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2. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
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de Boer, Elke, Ockeloen, Charlotte, Kampen, Rosalie, Hampstead, Juliet, Dingemans, Alexander, Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline, Helm, Benjamin, Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally, Mathijssen, Irene, Mcgowan, Ruth, Monaghan, Kristin, Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs, Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter, Stegmann, Alexander, Swagemakers, Sigrid, Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie, Wéber, Mathys, Gilissen, Christian, Low, Karen, Fisher, Simon, Dingemans, Alexander J.M., Goos, Jacqueline A.C., Mathijssen, Irene M.J., Santen, Gijs W.E., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske, MUMC+: DA KG Lab Specialisten (9), RS: FHML non-thematic output, Pathology, Plastic and Reconstructive Surgery and Hand Surgery, Radboud University [Nijmegen], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hospices Civils de Lyon (HCL), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, This work was financially supported by Aspasia grants of the Dutch Research Council (015.014.036 to T.K. and 015.014.066 to L.E.L.M.V.), Netherlands Organization for Health Research and Development (91718310 to T.K.), and the Max Planck Society (M.M.K.W., S.E.F.). Individual 4 was sequenced at the Scottish Genomes Partnership. The Scottish Genomes Partnership was funded by the Chief Scientist Office of the Scottish Government Health Directorates (SGP/1) and the Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative (MC/PC/15080). The Deciphering Developmental Disorders study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003). This study makes use of Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (https://www.deciphergenomics.org/), which is funded by Wellcome. See Deciphering Developmental Disorders study8 or https://www.ddduk.org/access.html for full acknowledgment., Institut Català de la Salut, [de Boer E, Dingemans AJM, Rots D] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands. [Ockeloen CW] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. [Kampen RA] Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands. [Hampstead JE] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands. [Lasa-Aranzasti A] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca en Medicina Genètica, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus
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Neuroinformatics ,Proteasome Endopeptidase Complex ,[SDV]Life Sciences [q-bio] ,fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo [FENÓMENOS Y PROCESOS] ,Mutation, Missense ,Genotype-phenotype study ,enfermedades musculoesqueléticas::enfermedades óseas::enfermedades óseas del desarrollo [ENFERMEDADES] ,Ossos - Malalties - Aspectes genètics ,ANKRD11 ,All institutes and research themes of the Radboud University Medical Center ,Missense variants ,Intellectual Disability ,Other subheadings::Other subheadings::/genetics [Other subheadings] ,Humans ,Genotype–phenotype study ,Musculoskeletal Diseases::Bone Diseases::Bone Diseases, Developmental [DISEASES] ,Abnormalities, Multiple ,Genetics (clinical) ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,Bone Diseases, Developmental ,Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Stomatognathic System Abnormalities::Tooth Abnormalities [DISEASES] ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,Otros calificadores::Otros calificadores::/genética [Otros calificadores] ,Tooth Abnormalities ,Neurodevelopmental disorders ,Facies ,Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6] ,KBG syndrome ,Repressor Proteins ,Anomalies cromosòmiques ,Phenotype ,enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::anomalías del sistema estomatognático::anomalías dentarias [ENFERMEDADES] ,Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense [PHENOMENA AND PROCESSES] ,Chromosome Deletion ,Dents - Malformacions - Aspectes genètics ,Transcription Factors - Abstract
KBG syndrome; Missense variants; Neurodevelopmental disorders Síndrome KBG; Variants de missense; Trastorns del neurodesenvolupament Síndrome KBG; Variantes de missense; Trastornos del neurodesarrollo Purpose Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11 missense variants. Methods We collected clinical information of individuals with ANKRD11 missense variants and evaluated phenotypic fit to KBG syndrome. We assessed pathogenicity of variants through in silico analyses and cell-based experiments. Results We identified 20 unique, mostly de novo, ANKRD11 missense variants in 29 individuals, presenting with syndromic neurodevelopmental disorders similar to KBG syndrome caused by ANKRD11 protein truncating variants or 16q24.3 microdeletions. Missense variants significantly clustered in repression domain 2 at the ANKRD11 C-terminus. Of the 10 functionally studied missense variants, 6 reduced ANKRD11 stability. One variant caused decreased proteasome degradation and loss of ANKRD11 transcriptional activity. Conclusion Our study indicates that pathogenic heterozygous ANKRD11 missense variants cause the clinically recognizable KBG syndrome. Disrupted transrepression capacity and reduced protein stability each independently lead to ANKRD11 loss-of-function, consistent with haploinsufficiency. This highlights the diagnostic relevance of ANKRD11 missense variants, but also poses diagnostic challenges because the KBG-associated phenotype may be mild and inherited pathogenic ANKRD11 (missense) variants are increasingly observed, warranting stringent variant classification and careful phenotyping.
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- 2022
3. Human subcortical brain asymmetries in 15,847 people worldwide reveal effects of age and sex
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Derek W. Morris, Carles Soriano-Mas, Tomáš Paus, Henrik Walter, Dick J. Veltman, Yuqi Cheng, Benjamin S. Aribisala, Anna Cattrell, Hilleke E. Hulshoff Pol, Vatche G. Baboyan, Simon E. Fisher, Michael N. Smolka, Saskia P. Hagenaars, Sarah Jurk, Roberto Roiz-Santiañez, Nicholas G. Martin, Lars T. Westlye, Odile A. van den Heuvel, Lucija Abramovic, Jan Egil Nordvik, Guillén Fernández, Jürgen Gallinat, Je Yeon Yun, Benson Mwangi, Ignacio Martínez-Zalacaín, Bernd Kraemer, Gareth J. Barker, José M. Menchón, Marie-Laure Paillère Martinot, Zhen Wang, Jan K. Buitelaar, Jean-Luc Martinot, Herve Lemaitre, Aiden Corvin, Henry Brodaty, Thomas Wolfers, Silvia Brem, Christine Lochner, Derrek P. Hibar, Susanne Walitza, Susana Muñoz Maniega, Premika S.W. Boedhoe, Nathalie Tzourio-Mazoyer, Uli Bromberg, Sonja M C de Zwarte, Dan J. Stein, Mark E. Bastin, Clyde Francks, Tobias U. Hauser, Sinead Kelly, Hugh Garavan, Omar Mothersill, Gary Donohoe, Neda Jahanshad, Greig I. de Zubicaray, Yoshinari Abe, Roel A. Ophoff, Christian Büchel, Esther Walton, Pieter J. Hoekstra, Nils Opel, Gunter Schumann, Jian Xu, Dara M. Cannon, Elena Shumskaya, Ingrid Agartz, Bernhard T. Baune, A. Marten H. Onnink, Tomohiro Nakao, Rosa Ayesa-Arriola, David Mataix-Cols, Sylvane Desrivières, Klaus-Peter Lesch, Paul Pauli, Wei Wen, Nora C. Vetter, Martine Hoogman, Ganesan Venkatasubramanian, Miguel E. Rentería, Ole A. Andreassen, Penny A. Gowland, Ian J. Deary, Patricia J. Conrod, Nicola J. Armstrong, Masaki Fukunaga, Vince D. Calhoun, Volker Arolt, Dimitri Papadopoulos Orfanos, Benedicto Crespo-Facorro, Lachlan T. Strike, Natalie A. Royle, Joanna M. Wardlaw, Sarah E. Medland, Annette Conzelmann, Andrea Gonzalez Suarez, Arun L.W. Bokde, Ryota Hashimoto, Robert Whelan, Michelle Luciano, Pascual Sánchez-Juan, Neeltje E.M. van Haren, Hao Hu, Luise Poustka, Jun Soo Kwon, Hans J. Grabe, Andreas Heinz, Katharina Wittfeld, Michael Gill, Erik G. Jönsson, Frauke Nees, Perminder S. Sachdev, Oliver Gruber, David C. Glahn, Chaim Huyser, Anushree Bose, Herta Flor, Janardhan Y. C. Reddy, Bernd Ittermann, John Blangero, Dennis van der Meer, Andre F. Marquand, Xiufeng Xu, Tulio Guadalupe, Dominik Grotegerd, Jessica A. Turner, Annerine Roos, Tobias Banaschewski, Theo G.M. vanErp, Jean-Paul Fouche, Paul M. Thompson, Alejandro Arias-Vasquez, Christopher D. Whelan, Maria del C. Valdés Hernández, Eric Artiges, Janardhanan C. Narayanaswaamy, Thomas Espeseth, Bernard Mazoyer, Katie L. McMahon, Erlend S. Dørum, Samantha J. Brooks, Samuel R. Mathias, Vincent Frouin, Fleur M. Howells, Barbara Franke, Colm McDonald, Jingjing Zhao, Daniella Vuletic, Nhat Trung Doan, Harald Kugel, Lianne Schmaal, Marcel P. Zwiers, Fabrice Crivello, Anne Uhlmann, Karen A. Mather, René S. Kahn, Roberto Toro, Stefan Ehrlich, Udo Dannlowski, Jair C. Soares, Takashi Nakamae, Margaret J. Wright, RS: MHeNs - R3 - Neuroscience, Psychiatrie & Neuropsychologie, Psychiatry, Anatomy and neurosciences, Amsterdam Neuroscience - Brain Imaging, Child Psychiatry, Other departments, ANS - Complex Trait Genetics, International Max Planck Research School for Language Sciences (IMPRS ), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, Language and Genetics Department [Nijmegen], Yale University [New Haven], Department of Psychiatry and Human Behavior, University of California [Irvine] (UCI), University of California-University of California, David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), Donders Institute for Brain, Cognition and Behaviour, Radboud university [Nijmegen], Department of Psychiatry, Graduate School of Medical Science Kyoto Prefectural University of Medicine Kyoto Japan, University Medical Center [Utrecht], KG Jebsen Centre for Psychosis Research, University of Oslo (UiO)-Institute of Clinical Medicine-Oslo University Hospital [Oslo], University of Oslo (UiO), Department of Human Genetics, Radboud University Medical Center [Nijmegen], Department of Psychiatry, Donders Centre for Neuroscience, Radboud university [Nijmegen]-Radboud University Medical Center [Nijmegen]-Radboud university [Nijmegen]-Radboud University Medical Center [Nijmegen], University of Edinburgh, Lagos State University (LASU), Heriot-Watt University [Edinburgh] (HWU), Mental Health Sciences Unit, University College of London [London] (UCL), Adolescent psychopathology and Medicine, CHU Cochin [AP-HP], Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Hospital Sant Joan de Déu [Barcelona], Centro de Investigación Biomédica en Red Salud Mental [Madrid] (CIBER-SAM), University of Southern California (USC), Department of Child and Adolescent Psychiatry and Psychotherapy [Mannheim], Universität Heidelberg [Heidelberg], Centre for Neuroimaging Sciences, Institute of Psychiatry, King‘s College London, University of Adelaide, The University of Texas Health Science Center at Houston (UTHealth), Texas Biomedical Research Institute [San Antonio, Texas], Discipline of Psychiatry [Dublin], School of Medicine [Dublin], Trinity College Dublin-Trinity College Dublin, VU University Medical Center [Amsterdam], National Institute of Mental Health and Neurosciences [Bagalore, India], Hospital of the University of Pennsylvania, Department of Neurosurgery, Perelman School of Medicine, University of Pennsylvania [Philadelphia]-University of Pennsylvania [Philadelphia], Dementia Collaborative Research Centre, University of New South Wales [Sydney] (UNSW), Centre for Healthy Brain Ageing, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Donders Center for Cognitive Neuroimaging, Donders Centre for Cognitive Neuroimaging, Radboud university [Nijmegen]-Radboud university [Nijmegen], The Mind Research Network, Department of Electrical and Computer Engineering [Albuquerque] (ECE Department), The University of New Mexico [Albuquerque], Human Genetics Branch, National Institutes of Health [Bethesda] (NIH)-National Institute of Mental Health (NIMH), Institute of Psychiatry, Psychology & Neuroscience, King's College London, Center for disease control, China (Chinese CDC), Center for Disease Control, China, Department of Psychology (Biological Psychology, Clinical Psychology, and Psychotherapy), University of Würzburg, Germany, Tübingen, Würzburg, Germany, Neuropsychiatric Genetics Research Group, Trinity College Dublin, Trinity College Dublin-St. James's Hospital, Groupe d'imagerie neurofonctionnelle (GIN), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), School of Psychology, University of Queensland, University of Queensland [Brisbane], MetaGenoPolis, Institut National de la Recherche Agronomique (INRA), Department of Psychology [Oslo], Faculty of Social Sciences [Oslo], University of Oslo (UiO)-University of Oslo (UiO), sans affiliation, Universität Mannheim [Mannheim], Service NEUROSPIN (NEUROSPIN), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Division of Cerebral Integration National Institute for Physiological Sciences Okazaki Japan, Charité - Universitätsmedizin Berlin / Charite - University Medicine Berlin, University of Calgary, Sir Peter Mansfield Magnetic Resonance Centre [Nottingham], University of Nottingham, UK (UON), Department of Psychiatry and Psychotherapy, HELIOS Klinikum Stralsund Hanseatic-Greifswald University Hospital, Molecular Research Center for Children’s Mental Development, United Graduate School of Child Development, Osaka University [Osaka], University Clinic for Child and Adolescent Psychiatry (UCCAP), University of Zürich [Zürich] (UZH), University Medical Center Groningen [Groningen] (UMCG), Department of Medicine, Clinical Pharmacology Unit, Karolinska University Hospital [Stockholm], Brain Centre Rudolf Magnus [Utrecht], MetaCase [Jyväskylä], Center for Translational Research in Systems Neuroscience and Psychiatry, Department of Psychiatry and Psychotherapy, University Medical Center, Goettingen 37075, Germany, Department of Psychiatry & Behavioral Science Seoul National University College of Medicine Seoul Republic of Korea, Université de Cergy Pontoise (UCP), Université Paris-Seine, Institute of Human Genetics, Rheinische Friedrich-Wilhelms-Universität Bonn, Medstar Research Institute, Neuroimagerie en psychiatrie (U1000), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), IFR de Neuroimagerie Fonctionnelle (IFR 49), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre for Healthy Brain Ageing, School of Psychiatry, Faculty of Medicine, University of New South Wales, Sydney, Australia, Department of Life Sciences, Imperial College London, Centre for Advanced Imaging, Queensland Institute of Medical Research, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), Universitat de Barcelona (UB), National University of Ireland [Galway] (NUI Galway), Climate Change Unit [Ispra], JRC Institute for Environment and Sustainability (IES), European Commission - Joint Research Centre [Ispra] (JRC)-European Commission - Joint Research Centre [Ispra] (JRC), Sunnaas Rehabilitation Hospital HT Nesodden Norway, University Medical Center [Utrecht]-Brain Center Rudolf Magnus, McConnell Brain Imaging Centre (MNI), Montreal Neurological Institute and Hospital, McGill University-McGill University, Texas A&M University [College Station], QIMR Berghofer Medical Research Institute, Universiteit van Amsterdam (UvA), Centre for Healthy Brain Ageing [Sydney], The University of Sydney, CIBER de Enfermedades Neurodegenerativas (CIBERNED), Göttingen Zentrum Geowissenschaften, Georg-August-Universität Göttingen, Technische Universität Dresden (TUD), Instituto de Geociências, Universidade de Brasília, Magnetic Resonance Imaging, Department of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa, Centre for Advanced Imaging, University of Queensland, Brisbane 4072, Australia, School of Psychology, University of Queensland, Brisbane 4072, Australia, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], University of York [York, UK], Centre for Cognitive Ageing & Cognitive Epidemiology, Department of Anatomy & Neurosciences, VU University Medical Center, Amsterdam, The Netherlands, University of Twente [Netherlands], Berlin School of Mind and Brain [Berlin], Humboldt Universität zu Berlin, Centre épigénétique et destin cellulaire (EDC (UMR_7216)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Department of Computational and Applied Mathematics [Houston], Rice University [Houston], Department of Physics [Kowloon], Hong Kong University of Science and Technology (HKUST), University College Dublin [Dublin] (UCD), German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Greifswald University Hospital, University of Missouri [Columbia], University of Missouri System, Mechanics surfaces and materials processing (MSMP), École Nationale Supérieure d'Arts et Métiers (ENSAM), Arts et Métiers Sciences et Technologies, HESAM Université (HESAM)-HESAM Université (HESAM)-Arts et Métiers Sciences et Technologies, HESAM Université (HESAM)-HESAM Université (HESAM), Department of Genetics, North Carolina State University [Raleigh] (NC State), University of North Carolina System (UNC)-University of North Carolina System (UNC), Dpt of Psychiatry [New Haven], Yale University School of Medicine, University of California [Irvine] (UC Irvine), University of California (UC)-University of California (UC), Radboud University [Nijmegen], Radboud University [Nijmegen]-Radboud University Medical Center [Nijmegen]-Radboud University [Nijmegen]-Radboud University Medical Center [Nijmegen], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Universität Heidelberg [Heidelberg] = Heidelberg University, Texas Biomedical Research Institute [San Antonio, TX], University of Pennsylvania-University of Pennsylvania, Radboud University [Nijmegen]-Radboud University [Nijmegen], [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Sans affiliation, Universität Mannheim, Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Universität Zürich [Zürich] = University of Zurich (UZH), Seoul National University [Seoul] (SNU), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], Centro de Investigacion Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III [Madrid] (ISC), Georg-August-University = Georg-August-Universität Göttingen, Technische Universität Dresden = Dresden University of Technology (TU Dresden), Institut Pasteur [Paris] (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), University of Twente, Humboldt University Of Berlin, Centre épigénétique et destin cellulaire (EDC), Department of Physics [Hong Kong University of Science and Technology], University of Missouri [Columbia] (Mizzou), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM), Yale School of Medicine [New Haven, Connecticut] (YSM), Hal, GIN, Clinical Cognitive Neuropsychiatry Research Program (CCNP), Radboud University Medical Center [Nijmegen]-Radboud university [Nijmegen]-Radboud University Medical Center [Nijmegen]-Radboud university [Nijmegen], Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Georg-August-University [Göttingen], Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Humboldt-Universität zu Berlin, International Max Planck Research School for Language Sciences ( IMPRS ), Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen 6525 XD, The Netherlands, Department of Psychiatry Yale School of Medicine New Haven USA, University of California [Irvine] ( UCI ), Laboratory of Neuro Imaging, David Geffen School of Medicine, University of California, Los Angeles, California, USA, Brain Center Rudolf Magnus, Department of Psychiatry, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands, University of Oslo ( UiO ) -Institute of Clinical Medicine-Oslo University Hospital, NORMENT - KG Jebsen Centre, Institute of Clinical Medicine, University of Oslo, Oslo N-0316, Norway, Donders Centre for Neuroscience, Radboud University Nijmegen Medical Centre, Scottish Imaging Network, A Platform for Scientific Excellence (SINAPSE) Collaboration, Department of Neuroimaging Sciences, University of Edinburgh, Edinburgh EH4 2XU, UK, Department of Computer Science, Lagos State University, Lagos, Nigeria, Brain Research Imaging Centre, University of Edinburgh, Edinburgh EH4 2XU, UK, Heriot-Watt University [Edinburgh] ( HWU ), University College of London [London] ( UCL ), Centro de Investigación Biomédica en Red de Salud Mental ( CIBERSAM ), Cibersam (Centro Investigación Biomédica en Red Salud Mental), Madrid 28029, Spain, Imaging Genetics Center, Mark & Mary Stevens Neuroimaging & Informatics Institute, University of Southern California, Marina del Rey, CA, USA, The University of Adelaide, University of Texas Health Science Center, San Antonio, Texas 78229, USA, Texas Biomedical Research Institute, San Antonio, Texas 78245, USA, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore, India, Hospital of the University of Pennsylvania, University of New South Wales [Sydney] ( UNSW ), Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] ( UKE ), The Mind Research Network & LBERI, Albuquerque, New Mexico 87106, USA, Department of ECE, University of New Mexico, Albuquerque, New Mexico 87131, USA, National Institutes of Health ( NIH ) -National Institute of Mental Health (NIMH), King's College, Center for disease control, China ( Chinese CDC ), GIN - IMN UMR 5293 CNRS CEA Université de Bordeaux, Institut des Maladies Neurodégénératives [Bordeaux] ( IMN ), Université de Bordeaux ( UB ) -Centre National de la Recherche Scientifique ( CNRS ) -Université de Bordeaux ( UB ) -Centre National de la Recherche Scientifique ( CNRS ), Centre for Cognitive Ageing and Cognitive Epidemiology, Psychology, University of Edinburgh, Edinburgh EH8 9JZ, UK, MRC- SGDP Centre, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London SE5 8AF, UK, Institut Armand Frappier ( INRS-IAF ), Institut National de la Recherche Scientifique [Québec] ( INRS ) -Réseau International des Instituts Pasteur ( RIIP ) -Institut Armand Frappier, NORMENT - KG Jebsen Centre, Division of Mental Health and Addiction, Oslo University Hospital, Oslo 0424, Norway, Institut national de la recherche agronomique [Jouy en Josas] ( INRA Jouy en Josas ), Department of Psychology, University of Oslo, Oslo 0373, Norway, Service NEUROSPIN ( NEUROSPIN ), Direction de Recherche Fondamentale (CEA) ( DRF (CEA) ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay, Charite-Universitatsmedizin Berlin [Berlin], University of Nottingham, UK ( UON ), University Medicine Greifswald,-HELIOS Hospital Stralsund, Molecular Research Center for Children’s Mental Development, United Graduate School of Child Development, Osaka University, Osaka 565-0871, Japan, (UCCAP) University of Zurich Zurich Switzerland, University Medical Center Groningen, University of Groningen, Karolinska University Hospital (Solna), Université de Cergy Pontoise ( UCP ), Bonn Universität [Bonn], Institut de Physique Nucléaire d'Orsay ( IPNO ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut National de Physique Nucléaire et de Physique des Particules du CNRS ( IN2P3 ) -Centre National de la Recherche Scientifique ( CNRS ), Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), IFR de Neuroimagerie Fonctionnelle ( IFR 49 ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] ( IDIBELL ), Universitat de Barcelona ( UB ), National University of Ireland [Galway] ( NUI Galway ), JRC Institute for Environment and Sustainability ( IES ), European Commission - Joint Research Centre [Ispra] ( JRC ) -European Commission - Joint Research Centre [Ispra] ( JRC ), University Medical Center Utrecht-Brain Center Rudolf Magnus, McConnell Brain Imaging Centre ( MNI ), Montreal Neurological Institute [Montréal], Universiteit van Amsterdam ( UvA ), The University of Sydney [Sydney], Department of Psychiatry, Neuroscience Campus Amsterdam, VU University Medical Center/GGZ inGeest, Amsterdam 1081 HL, The Netherlands, Technische Universität Dresden ( TUD ), Génétique humaine et Fonctions cognitives - Human Genetics and Cognitive Functions, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique ( CNRS ), Centre épigénétique et destin cellulaire ( EDC ), Université Paris Diderot - Paris 7 ( UPD7 ) -Centre National de la Recherche Scientifique ( CNRS ), Hong Kong University of Science and Technology ( HKUST ), University College Dublin [Dublin] ( UCD ), German Center for Neurodegenerative Diseases (DZNE) Rostock/Greifswald, Greifswald 17487, Germany, Department of Psychiatry, University Medicine Greifswald, Greifswald 17489, Germany, University of Missouri-Columbia, Mechanics surfaces and materials processing ( MSMP ), North Carolina State University [Raleigh] ( NCSU ), and Yale School of Medicine
- Subjects
Male ,Aging ,Planum temporale ,Caudate nucleus ,Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13] ,Subcortical brain asymmetry ,Functional Laterality ,Behavioral Neuroscience ,0302 clinical medicine ,pathology [Aging] ,ddc:150 ,130 000 Cognitive Neurology & Memory ,Basal ganglia ,YOUNG-ADULTS ,Brain asymmetry ,GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries) ,Handedness ,Original Research ,Sex Characteristics ,Age ,Enigma ,Heritability ,Meta-analysis ,Sex ,Putamen ,05 social sciences ,Brain ,Human brain ,Organ Size ,Middle Aged ,Magnetic Resonance Imaging ,AMYGDALA VOLUME ,Psychiatry and Mental health ,genetics [Functional Laterality] ,Globus pallidus ,medicine.anatomical_structure ,Neurology ,BASAL GANGLIA VOLUMES ,Radiology Nuclear Medicine and imaging ,genetics [Aging] ,[ SCCO.NEUR ] Cognitive science/Neuroscience ,CAUDATE-NUCLEUS ,Female ,Psychology ,Sex characteristics ,MRI ,Neuroinformatics ,Adult ,Adolescent ,Cognitive Neuroscience ,Clinical Neurology ,BF ,HAND PREFERENCE ,050105 experimental psychology ,150 000 MR Techniques in Brain Function ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,Young Adult ,Quantitative Trait, Heritable ,Meta-Analysis as Topic ,medicine ,Journal Article ,Humans ,0501 psychology and cognitive sciences ,Radiology, Nuclear Medicine and imaging ,diagnostic imaging [Brain] ,Aged ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,[SCCO.NEUR]Cognitive science/Neuroscience ,TOURETTE-SYNDROME ,[SCCO.NEUR] Cognitive science/Neuroscience ,PLANUM TEMPORALE ,NORMAL INDIVIDUALS ,HEMISPHERIC-DIFFERENCES ,nervous system ,RC0321 ,Neurology (clinical) ,Neuroscience ,anatomy & histology [Brain] ,030217 neurology & neurosurgery - Abstract
The two hemispheres of the human brain differ functionally and structurally. Despite over a century of research, the extent to which brain asymmetry is influenced by sex, handedness, age, and genetic factors is still controversial. Here we present the largest ever analysis of subcortical brain asymmetries, in a harmonized multi-site study using meta-analysis methods. Volumetric asymmetry of seven subcortical structures was assessed in 15,847 MRI scans from 52 datasets worldwide. There were sex differences in the asymmetry of the globus pallidus and putamen. Heritability estimates, derived from 1170 subjects belonging to 71 extended pedigrees, revealed that additive genetic factors influenced the asymmetry of these two structures and that of the hippocampus and thalamus. Handedness had no detectable effect on subcortical asymmetries, even in this unprecedented sample size, but the asymmetry of the putamen varied with age. Genetic drivers of asymmetry in the hippocampus, thalamus and basal ganglia may affect variability in human cognition, including susceptibility to psychiatric disorders. Electronic supplementary material The online version of this article (doi:10.1007/s11682-016-9629-z) contains supplementary material, which is available to authorized users.
- Published
- 2016
4. Common genetic variants influence human subcortical brain structures
- Author
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T., Woldehawariat, Girma, Greve, Douglas, Schmidt, Helena, Nyquist, Paul, Vinke, Louis N, van Duijn, Cornelia M, Xue, Luting, Mazoyer, Bernard, Bis, Joshua C, Gudnason, Vilmundur, Seshadri, Sudha, Holmes, Avram J, Ikram, M Arfan, Initiative, Alzheimer’s Disease Neuroimaging, Consortium, CHARGE, EPIGEN, IMAGEN, SYS, Martin, Nicholas G, Wright, Margaret J, Schumann, Gunter, Franke, Barbara, Hoogman, Martine, Thompson, Paul M, Medland, Sarah E, Weiner, Michael, Aisen, Paul, Petersen, Ronald, Jagust, William, Trojanowki, John Q, Beckett, Laurel, Arias-Vasquez, Alejandro, Janowitz, Deborah, Morris, John, Shaw, Leslie M, Khachaturian, Zaven, Sorensen, Greg, Carrillo, Maria, Kuller, Lew, Raichle, Marc, Paul, Steven, Jia, Tianye, Davies, Peter, Fillit, Howard, Hefti, Franz, Holtzman, Davie, Mesulman, M Marcel, Potter, William, Snyder, Peter, Schwartz, Adam, Montine, Tom, Kim, Sungeun, Thomas, Ronald G, Donohue, Michael, Walter, Sarah, Gessert, Devon, Sather, Tamie, Jiminez, Gus, Harvey, Danielle, Klein, Marieke, Bernstein, Matthew, Fox, Nick, Thompson, Paul, Schuff, Norbert, DeCarli, Charles, Borowski, Bret, Gunter, Jeff, Senjem, Matt, Kraemer, Bernd, Vemuri, Prashanthi, Jones, David, Kantarci, Kejal, Ward, Chad, Koeppe, Robert A, Foster, Norm, Reiman, Eric M, Chen, Kewei, Mathis, Chet, Lee, Phil H, Landau, Susan, Cairns, Nigel J, Householder, Erin, Taylor-Reinwald, Lisa, Trojanowki, J. Q., Shaw, Les, Lee, Virginia M Y, Korecka, Magdalena, Figurski, Michal, Olde Loohuis, Loes M, Crawford, Karen, Neu, Scott, Potkin, Steven, Shen, Li, Faber, Kelley, Nho, Kwangsik, Luciano, Michelle, Thal, Leon, Frank, Richard, Snyder, Peter J, Buckholtz, Neil, Macare, Christine, Albert, Marilyn, Hsiao, John, Kaye, Jeffrey, Quinn, Joseph, Lind, Betty, Carter, Raina, Dolen, Sara, Gutman, Boris A, Schneider, Lon S, Mather, Karen A, Pawluczyk, Sonia, Beccera, Mauricio, Teodoro, Liberty, Spann, Bryan M, Brewer, James, Vanderswag, Helen, Fleisher, Adam, Heidebrink, Judith L, Lord, Joanne L, Desrivières, Sylvane, Mattheisen, Manuel, Mason, Sara S, Albers, Colleen S, Knopman, David, Johnson, Kris, Doody, Rachelle S, Villanueva-Meyer, Javier, Chowdhury, Munir, Rountree, Susan, Dang, Mimi, Stern, Yaakov, Milaneschi, Yuri, Honig, Lawrence S, Bell, Karen L, Ances, Beau, Morris, John C, Carroll, Maria, Leon, Sue, Mintun, Mark A, Schneider, Stacy, Oliver, Angela, Marson, Daniel, Griffith, Randall, Clark, David, Geldmacher, David, Brockington, John, Roberson, Erik, Grossman, Hillel, Mitsis, Effie, deToledo-Morrell, Leyla, Shah, Raj C, Papmeyer, Martina, Duara, Ranjan, Varon, Daniel, Greig, Maria T, Roberts, Peggy, Onyike, Chiadi, D'Agostino, Daniel, Kielb, Stephanie, Galvin, James E, Pogorelec, Dana M, Ramasamy, Adaikalavan, Cerbone, Brittany, Michel, Christina A, Rusinek, Henry, de Leon, Mony J, Glodzik, Lidia, De Santi, Susan, Doraiswamy, P Murali, Petrella, Jeffrey R, Wong, Terence Z, Arnold, Steven E, Risacher, Shannon L, Karlawish, Jason H, Wolk, David, Smith, Charles D, Jicha, Greg, Hardy, Peter, Sinha, Partha, Oates, Elizabeth, Conrad, Gary, Lopez, Oscar L, Oakley, MaryAnn, Roiz-Santiañez, Roberto, Simpson, Donna M, Porsteinsson, Anton P, Goldstein, Bonnie S, Martin, Kim, Makino, Kelly M, Ismail, M Saleem, Brand, Connie, Mulnard, Ruth A, Thai, Gaby, Mc-Adams-Ortiz, Catherine, Rose, Emma J, Womack, Kyle, Mathews, Dana, Quiceno, Mary, Diaz-Arrastia, Ramon, King, Richard, Weiner, Myron, Martin-Cook, Kristen, DeVous, Michael, Levey, Allan I, Lah, James J, Salami, Alireza, Cellar, Janet S, Burns, Jeffrey M, Anderson, Heather S, Swerdlow, Russell H, Apostolova, Liana, Tingus, Kathleen, Woo, Ellen, Silverman, Daniel H S, Lu, Po H, Bartzokis, George, Sämann, Philipp G, Graff-Radford, Neill R, Parfitt, Francine, Kendall, Tracy, Johnson, Heather, Farlow, Martin R, Hake, Ann Marie, Matthews, Brandy R, Herring, Scott, Hunt, Cynthia, van Dyck, Christopher H, Jahanshad, Neda, Schmaal, Lianne, Carson, Richard E, MacAvoy, Martha G, Chertkow, Howard, Bergman, Howard, Hosein, Chris, Black, Sandra, Stefanovic, Bojana, Caldwell, Curtis, Hsiung, Yuek Robin, Feldman, Howard, Schork, Andrew J, Mudge, Benita, Assaly, Michele, Kertesz, Andrew, Rogers, John, Trost, Dick, Bernick, Charles, Munic, Donna, Kerwin, Diana, Mesulam, Marek-Marsel, Lipowski, Kristine, Shin, Jean, Wu, Chuang-Kuo, Johnson, Nancy, Sadowsky, Carl, Martinez, Walter, Villena, Teresa, Turner, Raymond Scott, Johnson, Kathleen, Reynolds, Brigid, Sperling, Reisa A, Johnson, Keith A, Strike, Lachlan T, Marshall, Gad, Frey, Meghan, Yesavage, Jerome, Taylor, Joy L, Lane, Barton, Rosen, Allyson, Tinklenberg, Jared, Sabbagh, Marwan N, Belden, Christine M, Jacobson, Sandra A, Teumer, Alexander, Sirrel, Sherye A, Kowall, Neil, Killiany, Ronald, Budson, Andrew E, Norbash, Alexander, Johnson, Patricia Lynn, Obisesan, Thomas O, Wolday, Saba, Allard, Joanne, Lerner, Alan, van Donkelaar, Marjolein M J, Ogrocki, Paula, Hudson, Leon, Fletcher, Evan, Carmichael, Owen, Olichney, John, Kittur, Smita, Borrie, Michael, Lee, T-Y, Bartha, Rob, van Eijk, Kristel R, Johnson, Sterling, Asthana, Sanjay, Carlsson, Cynthia M, Preda, Adrian, Nguyen, Dana, Tariot, Pierre, Reeder, Stephanie, Bates, Vernice, Walters, Raymond K, Capote, Horacio, Rainka, Michelle, Scharre, Douglas W, Kataki, Maria, Adeli, Anahita, Zimmerman, Earl A, Celmins, Dzintra, Brown, Alice D, Pearlson, Godfrey D, Blank, Karen, Westlye, Lars T, Anderson, Karen, Santulli, Robert B, Kitzmiller, Tamar J, Schwartz, Eben S, Sink, Kaycee M, Williamson, Jeff D, Garg, Pradeep, Watkins, Franklin, Ott, Brian R, Querfurth, Henry, Whelan, Christopher D, Tremont, Geoffrey, Salloway, Stephen, Malloy, Paul, Correia, Stephen, Rosen, Howard J, Miller, Bruce L, Mintzer, Jacobo, Spicer, Kenneth, Bachman, David, Finger, Elizabether, Toro, Roberto, Winkler, Anderson M, Pasternak, Stephen, Rachinsky, Irina, Drost, Dick, Pomara, Nunzio, Hernando, Raymundo, Sarrael, Antero, Schultz, Susan K, Ponto, Laura L Boles, Zwiers, Marcel P, Shim, Hyungsub, Smith, Karen Elizabeth, Relkin, Norman, Chaing, Gloria, Raudin, Lisa, Smith, Amanda, Fargher, Kristin, Raj, Balebail Ashok, Amin, Najaf, Becker, Diane, Alhusaini, Saud, Beiser, Alexa, Debette, Stéphanie, DeStefano, Anita, Hofer, Edith, Hofman, Albert, Niessen, Wiro J, Smith, Albert, Tzourio, Christophe, Vaidya, Dhananjay, Athanasiu, Lavinia, Vernooij, Meike W, Goldstein, David B, Heinzen, Erin L, Shianna, Kevin, Radtke, Rodney, Ottmann, Ruth, Albrecht, Lisa, Andrew, Chris, Arroyo, Mercedes, Artiges, Eric, Ehrlich, Stefan, Aydin, Semiha, Bach, Christine, Banaschewski, Tobias, Barbot, Alexis, Barker, Gareth, Boddaert, Nathalie, Bokde, Arun, Bricaud, Zuleima, Bromberg, Uli, Bruehl, Ruediger, Hakobjan, Marina M H, Büchel, Christian, Cachia, Arnaud, Cattrell, Anna, Conrod, Patricia, Constant, Patrick, Crombag, Hans, Czech, Katharina, Dalley, Jeffrey, Decideur, Benjamin, Desrivieres, Sylvane, Hartberg, Cecilie B, Fadai, Tahmine, Flor, Herta, Frouin, Vincent, Fuchs, Birgit, Gallinat, Jürgen, Garavan, Hugh, Briand, Fanny Gollier, Gowland, Penny, Head, Kay, Heinrichs, Bert, Haukvik, Unn K, Heym, Nadja, Hübner, Thomas, Ihlenfeld, Albrecht, Ireland, James, Ittermann, Bernd, Ivanov, Nikolay, Jones, Jennifer, Klaassen, Arno, Heister, Angelien J G A M, Lalanne, Christophe, Lathrop, Mark, Lanzerath, Dirk, Lemaitre, Hervé, Lüdemann, Katharina, Mallik, Catherine, Mangin, Jean-François, Mann, Karl, Mar, Adam, Hoehn, David, Martinot, Jean-Luc, Massicotte, Jessica, Mennigen, Eva, Mesquita de Carvahlo, Fabiana, Mignon, Xavier, Miranda, Ruben, Müller, Kathrin, Nees, Frauke, Nymberg, Charlotte, Paillere, Marie-Laure, Wittfeld, Katharina, Kasperaviciute, Dalia, Pena-Oliver, Yolanda, Poline, Jean-Baptiste, Poustka, Luise, Rapp, Michael, Reed, Laurence, Robert, Gabriel, Reuter, Jan, Liewald, David C M, Ripke, Stephan, Ripley, Tamzin, Robbins, Trevor, Rodehacke, Sarah, Romanowski, Alexander, Ruggeri, Barbara, Schilling, Christina, Schmäl, Christine, Schmidt, Dirk, Lopez, Lorna M, Schneider, Sophia, Schroeder, Markus, Schubert, Florian, Schwartz, Yannick, Smolka, Michael, Sommer, Wolfgang, Spanagel, Rainer, Speiser, Claudia, Spranger, Tade, Stedman, Alicia, Makkinje, Remco R R, Steiner, Sabina, Stephens, Dai, Strache, Nicole, Ströhle, Andreas, Struve, Maren, Subramaniam, Naresh, Theobald, David, Topper, Lauren, Vollstaedt-Klein, Sabine, Walaszek, Bernadeta, Matarin, Mar, Weiß, Katharina, Werts, Helen, Whelan, Robert, Williams, Steve, Yacubian, Juliana, Ziesch, Veronika, Zilbovicius, Monica, Wong, C Peng, Lubbe, Steven, Naber, Marlies A M, Martinez-Medina, Lourdes, Kepa, Agnes, Fernandes, Alinda, Tahmasebi, Amir, Abrahamowicz, Michal, Gaudet, Daniel, Leonard, Gabriel, Perron, Michel, Richer, Louis, Seguin, Jean, McKay, D Reese, Veillette, Suzanne, Needham, Margaret, Nugent, Allison C, Pütz, Benno, Abramovic, Lucija, Royle, Natalie A, Sprooten, Emma, Trabzuni, Daniah, van der Marel, Saskia S L, van Hulzen, Kimm J E, Walton, Esther, Wolf, Christiane, Almasy, Laura, Ames, David, Andersson, Micael, Arepalli, Sampath, Assareh, Amelia A, Bastin, Mark E, Brodaty, Henry, Bulayeva, Kazima B, Carless, Melanie A, Cichon, Sven, Corvin, Aiden, Curran, Joanne E, Czisch, Michael, MUMC+: DA Klinische Genetica (5), RS: GROW - Developmental Biology, RS: GROW - R4 - Reproductive and Perinatal Medicine, Université de Montréal. Faculté de médecine. Département de psychiatrie et d'addictologie, David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), University of California (UC)-University of California (UC), QIMR Berghofer Medical Research Institute, Department of Psychiatry, Donders Centre for Neuroscience, Radboud University [Nijmegen]-Radboud University Medical Center [Nijmegen]-Radboud University [Nijmegen]-Radboud University Medical Center [Nijmegen], Department of Human Genetics, Radboud University Medical Center [Nijmegen], Institute of Psychiatry, Psychology & Neuroscience, King's College London, King‘s College London, PRES Sorbonne Paris Cité, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Gènes, Synapses et Cognition (CNRS - UMR3571 ), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Greifswald University Hospital, University Medical Center [Utrecht], European Commission, University of Edinburgh, Lagos State University (LASU), Heriot-Watt University [Edinburgh] (HWU), Unité d'expérimentation sur les Ruminants de Theix, Institut National de la Recherche Agronomique (INRA), Donders Institute for Brain, Cognition and Behaviour, Radboud University [Nijmegen], University of Oslo (UiO), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada], School of Technical Physics, Xidian University, Dept. of Mechanical Engineering, McMaster University [Hamilton, Ontario], Biological Psychology, Neuroscience Campus Amsterdam & EMGO Institute for Health and Care Research, VU University & VU Medical Center, Amsterdam 1081 BT, The Netherlands, Haukeland University Hospital, University of Bergen (UiB), Physicochimie des Processus de Combustion et de l’Atmosphère - UMR 8522 (PC2A), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Department of Geriatric Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, Universität Heidelberg [Heidelberg] = Heidelberg University, Language and Genetics Department [Nijmegen], Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, International Max Planck Research School for Language Sciences (IMPRS ), Georgia Institute of Technology [Atlanta], National Institutes of Health [Bethesda] (NIH), Yale University [New Haven], Massachusetts General Hospital [Boston], Mental Health Sciences Unit, University College of London [London] (UCL), Beijing Normal University (BNU), Indiana University School of Medicine, Indiana University System, Indiana Alzheimer Disease Center, Indiana University System-Indiana University System, Center for Translational Research in Systems Neuroscience and Psychiatry, Department of Psychiatry and Psychotherapy, University Medical Center, Goettingen 37075, Germany, Scottish Fish Immunology Research Centre, School of Biological Sciences, University of Aberdeen, University of California (UC), Medstar Research Institute, Centre for Healthy Brain Ageing, School of Psychiatry, Faculty of Medicine, University of New South Wales, Sydney, Australia, Department of Genomics, Life and Brain Center, Universität Bonn = University of Bonn, Institute of Human Genetics, Department of Biomedicine and the Centre for Integrative Sequencing, Aarhus University [Aarhus], VU University Medical Center [Amsterdam], Respiratory Epidemiology and Public Health, Imperial College London-School of public health, The University of Hong Kong (HKU)-The University of Hong Kong (HKU)-MRC-HPA Centre for Environment and Health, Centro de Investigación Biomédica en Red Salud Mental [Madrid] (CIBER-SAM), Institut Parisien de Chimie Moléculaire (IPCM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Umeå Centre for Functional Brain Imaging (UFBI), Umeå University, Umeå 901 87, Sweden, Aging Research Center [Karolinska Institutet] (ARC ), Stockholm University-Karolinska Institutet [Stockholm], Max Planck Institute of Psychiatry, Max-Planck-Gesellschaft, Department of Neurosciences [Univ California San Diego] (Neuro - UC San Diego), School of Medicine [Univ California San Diego] (UC San Diego), University of California [San Diego] (UC San Diego), University of California (UC)-University of California (UC)-University of California [San Diego] (UC San Diego), Department of Cognitive Sciences [Univ California San Diego] (CogSci - UC San Diego), The Hospital for sick children [Toronto] (SickKids), Queensland Institute of Medical Research, School of Psychology, University of Queensland, Brisbane 4072, Australia, University of Queensland [Brisbane], Centre for Advanced Imaging, University of Queensland, Brisbane 4072, Australia, Department of Genomics of Common Disease, Imperial College London, Department of Psychology [Oslo], Faculty of Social Sciences [Oslo], University of Oslo (UiO)-University of Oslo (UiO), Deutsche Bundesbank, Department of Neurology and Neurosurgery [Montreal], McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland (RCSI), MetaGenoPolis, Department of Psychiatric Research and Development, Diakonhjemmet Hospital, Oslo 0319, Norway, UCL Institute of Neurology and Epilepsy Society, Department of Medicine, Clinical And Experimental Epilepsy, Dpt of Psychiatry [New Haven], Yale School of Medicine [New Haven, Connecticut] (YSM), Hartford Hospital, Neuropsychiatric Genetics Research Group and Department of Psychiatry, Trinity College Institute of Psychiatry, Trinity College Dublin, Dublin 2, Ireland, Institute of Food & Health, University College Dublin, University College Dublin [Dublin] (UCD), Statistical Genetics Group, State Key Laboratory of Lead Compound Research, WuXi AppTec, Co., Ltd, Reta Lila Weston Institute and Department of Molecular Neuroscience, UCL, Institute of Neurology [London], Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSH & RC), Centre épigénétique et destin cellulaire (EDC), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Dundee Technopole, CXR Biosciences Ltd, Ninewells Hospital and Medical School, Biomedical Research Centre, University of Dundee, Southwest Foundation for Biomedical Research, Department of Psychiatry and National Ageing Research Institute, University of Melbourne, Department of Clinical Genetics, Department of Medical Parasitology and Mycology, School of public health, The University of Hong Kong (HKU)-The University of Hong Kong (HKU)-Tehran University of Medical Siences, Centre for Healthy Brain Ageing, University of New South Wales [Sydney] (UNSW), Dementia Collaborative Research Centre, N.I. Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119333, Russia, Texas Biomedical Research Institute [San Antonio, TX], Institute of Neuroscience and Medicine (INM-1), Research Center Juelich, Division of Medical Genetics, University of Basel (Unibas), Trinity College Dublin-St. James's Hospital, Neuropsychiatric Genetics Research Group, Trinity College Dublin, Department of Materials Science & Metallurgy, University of Cambridge [UK] (CAM), Bijvoet Center of Biomolecular Research [Utrecht], Utrecht University [Utrecht], School of Psychology, University of Queensland, Laboratory of Neurogenetics, The University of Texas Health Science Center at Houston (UTHealth), Department of Genomics, Department of Medical and Molecular Genetics, South Texas Veterans Health Care System, San Antonio, Texas 78229, USA, Biofunctional Imaging, Immunology Frontier Research Center, Osaka University, Osaka 565-0871, Japan, Public Health Genomics Unit, Department of Biomolecular Engineering, Rheinische Friedrich-Wilhelms-Universität Bonn, Estación Experimental de Pastos y Forrajes 'Indio Hatuey', University Medical Center Groningen [Groningen] (UMCG), Neuronal Plasticity / Mouse Behaviour, Interfaculty Institute for Genetics and Functional Genomics, Universität Greifswald - University of Greifswald, Department of Psychiatry, Fujita Health University School of Medicine, Toyoake 470-1192, Japan, Department of Radiology, Mayo Clinic, Department of Clinical Neurology [Oxford], University of Oxford-FMRIB Centre- John Radcliffe Hospital [Oxford University Hospital], University of Maryland School of Medicine, University of Maryland System, University of Sussex, Institute of Cognitive Neuroscience, United Kingdom Met Office [Exeter], University of Maryland [Baltimore County] (UMBC), University of Maryland System-University of Maryland System-University of Maryland School of Medicine, Department of Civil and Structural Engineering, The Hong Kong Polytechnic University [Hong Kong] (POLYU)-The Hong Kong Polytechnic University [Hong Kong] (POLYU), Columbia University Irving Medical Center (CUIMC), Lymphocyte Cell Biology Unit, Laboratory of Genetics, Centre for Advanced Imaging, Psychiatry and Psychotherapy, KG Jebsen Centre for Psychosis Research, University of Oslo (UiO)-Institute of Clinical Medicine-Oslo University Hospital [Oslo], Division of Mental Health and Addiction, Oslo University Hospital [Oslo], Institute of Clinical Medicine [Oslo], Faculty of Medicine [Oslo], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Genetic Epidemiology Unit, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Department of Statistics [Warwick], University of Warwick [Coventry], Osaka University [Osaka], Institute of Psychiatry, King’s College London, London SE5 8AF, UK, University of Calgary, Psychiatry and Human Behavior, University of California, Irvine, California 92617, USA, University of California [Irvine] (UC Irvine), Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health [Mannheim], University Hospital Mannheim | Universitätsmedizin Mannheim-University Hospital Mannheim | Universitätsmedizin Mannheim, Space and Naval Warfare Systems Center, Klinik für Psychiatrie, Martin-Luther-University Halle-Wittenberg, Department of Psychiatry, Division of Medical Psychology, Genetics of Mental Illness and Brain Function, Neuroscience Research Australia, Développement et amélioration des plantes (UMR DAP), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Institut National de la Recherche Agronomique (INRA)-Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS), Centre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney 2052, Australia, Laboratory of Neuro Imaging [Los Angeles] (LONI), Departamento de Física Aplicada, Universidade de Vigo, Georgia State University, University System of Georgia (USG), Genentech, Inc. [San Francisco], Psychiatry and Leiden Institute for Brain and Cognition, Leiden University Medical Center (LUMC), Universiteit Leiden-Universiteit Leiden, Universiteit Leiden, Carver College of Medicine [Iowa City], University of Iowa [Iowa City]-University of Iowa [Iowa City], Department of Neurobiology, Care Sciences and Society, Karolinska Institutet [Stockholm], University of Manchester [Manchester], The University of Tennessee Health Science Center [Memphis] (UTHSC), iangsu Province Key Laboratory for Inflammation and Molecular Drug Target, Medical College of Nantong University, Nantong 226001, China, Centre for Ultrahigh Bandwidth Devices for Optical Systems (CUDOS), Macquarie University, Cognitive Neuroscience Laboratory (CNL), Harvard University, Donders Center for Cognitive Neuroimaging, Donders Centre for Cognitive Neuroimaging, Radboud University [Nijmegen]-Radboud University [Nijmegen], Icahn School of Medicine at Mount Sinai [New York] (MSSM), The Mind Research Network, Department of Electrical and Computer Engineering [Albuquerque] (ECE Department), The University of New Mexico [Albuquerque], Division of Molecular and Cellular Therapeutics, Scottish Association for Marine Science (SAMS), Structural Biology Laboratory, Department of Chemistry, University of York, Neurology Division, Beaumont Hospital, Dublin 9, Ireland, Beaumont Hospital, Department of Neurology, Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB)-Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), Deparment of Medical Genetics, Human Genetics Branch, National Institutes of Health [Bethesda] (NIH)-National Institute of Mental Health (NIMH), Athinoula A. Martinos Center for Biomedical Imaging, Harvard Medical School [Boston] (HMS)-Massachusetts General Hospital [Boston], Department of Psychiatry, University of Iowa, University of Iowa [Iowa City], Institute for Community Medicine, Department Epidemiology of Health Care and Community Health, Translational Centre for Regenerative Medicine (TRM), Department of Cell Therapy, Universität Leipzig-Universität Leipzig, Institute of Clinical Chemistry and Laboratory Medicine, Department of Health Science, Division of Health and Rehabilitation, Luleå University of Technology (LUT), Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston]-Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Psychiatric and Neurodevelopmental Genetics Unit, 849 Department of Human Genetics, Institute for Community Medicine, Institute for Energy Systems and Thermodynamics, Renyi Institute, Neuropsychiatric Institute, Prince of Wales Hospital, Randwick, NSW, Department of Child and Adolescent Psychiatry, Erasmus University Medical Centre, Rotterdam 3000 CB, The Netherlands, Department of Radiology, Erasmus University Medical Centre, Rotterdam 3015 CN, The Netherlands, Vrije Universiteit Amsterdam [Amsterdam] (VU), Cell Biology and Gene Expression Section, National Institute of Health, Bethesda, Dept of Psychology, Laboratoire de Recherche Magellan, Université Jean Moulin - Lyon 3 (UJML), Université de Lyon-Université de Lyon-Institut d'Administration des Entreprises (IAE) - Lyon, Institut de Socio-économie des Entreprises et des ORganisations (ISEOR), Institut de socio-économie des entreprises et des organisations, Department of Psychiatry and Psychotherapy, HELIOS Klinikum Stralsund Hanseatic-Greifswald University Hospital, Laboratoire d'Informatique de Grenoble (LIG), Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Institut National Polytechnique de Grenoble (INPG)-Centre National de la Recherche Scientifique (CNRS), Molecular Research Center for Children’s Mental Development, United Graduate School of Child Development, Centre for Allergy Research, Department of Medicine, Clinical Pharmacology Unit, Karolinska University Hospital [Stockholm], Medical University of Łódź (MUL), Psychiatry Institute, Department of Health and Human Services, Institute of Gerontology and Geriatrics, Università degli Studi di Perugia = University of Perugia (UNIPG), Commonwealth Scientific and Industrial Research Organisation [Canberra] (CSIRO), Australian Centre for Research into Injury in Sport and its Prevention, Monash University [Clayton], University Medical Center [Utrecht]-Brain Center Rudolf Magnus, School of Psychology [Nottingham], University of Nottingham, UK (UON), McConnell Brain Imaging Centre (MNI), SickKids - The Hospital for sick children, European Centre for Medium-Range Weather Forecasts (ECMWF), University of Eastern Finland, Centre for Population Health Sciences, Lieber Institute for Brain Development [Baltimore] (LIBD), Johns Hopkins University (JHU), Institut Gilbert-Laustriat : Biomolécules, Biotechnologie, Innovation Thérapeutique, Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), Department of Neurology, Clinical Division of Neurogeriatrics, Medical University Graz, Graz 8010, Austria, Austrian Institute of Technology [Vienna] (AIT), INSERM Research Center for Epidemiology and Biostatistics (U897) Team Neuroepidemiology, Bordeaux, France College of Health Sciences, University of Bordeaux, Bordeaux, France, INSERM, Neuroepidemiology U708, Bordeaux, France, Karlsruhe Institute of Technology (KIT), General Internal Medicine, Johns Hopkins School of Medicine, Johns Hopkins University School of Medicine [Baltimore], Harvard Medical School [Boston] (HMS), Computer Science and Artificial Intelligence Laboratory [Cambridge] (CSAIL), Massachusetts Institute of Technology (MIT), University of Washington [Seattle], Department of Physics [Stockholm], Stockholm University, Center for Medical Systems Biology, Netherlands Genomics Initiative, Leiden University Medical Center, Leiden, The Netherlands, Netherlands Consortium for Healthy Ageing, Leiden, The Netherlands, Boston University [Boston] (BU), Groupe d'Imagerie Neurofonctionnelle (GIN - UMR 5296), Service NEUROSPIN (NEUROSPIN), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Faculty of Medicine, University of Iceland [Reykjavik], Icelandic Heart Association, Kopavogur, Iceland., Boston University School of Medicine (BUSM), Laboratoire d'Ingénierie des Matériaux de Bretagne (LIMATB), Université de Bretagne Sud (UBS)-Université de Brest (UBO)-Institut Brestois du Numérique et des Mathématiques (IBNM), Université de Brest (UBO)-Université de Brest (UBO), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], University of California-University of California, Radboud university [Nijmegen]-Radboud University Medical Center [Nijmegen]-Radboud university [Nijmegen]-Radboud University Medical Center [Nijmegen], Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], Gènes, Synapses et Cognition, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), UE 1354 Unité d'expérimentation sur les Ruminants de Theix, Institut National de la Recherche Agronomique (INRA)-Physiologie Animale et Systèmes d'Elevage (PHASE), Institut National de la Recherche Agronomique (INRA)-Unité d'expérimentation sur les Ruminants de Theix (UE RT), Radboud university [Nijmegen], McGill University, University of Bergen (UIB), Universität Heidelberg [Heidelberg], Beijing Normal University, University of California, University of Bonn, Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC), Department of Neurosciences [San Diego], Department of Cognitive Sciences [San Diego], The Hospital for Sick Children, University of Toronto, Toronto M5G 1X8, Canada, McGill University-McGill University, US 1367 MetaGénoPolis, Institut National de la Recherche Agronomique (INRA)-Département Microbiologie et Chaîne Alimentaire (MICA), Institut National de la Recherche Agronomique (INRA)-MetaGénoPolis (MGP), Yale University School of Medicine, King Faisal Specialist Hospital and Research Centre, Centre épigénétique et destin cellulaire (EDC (UMR_7216)), Texas Biomedical Research Institute [San Antonio, Texas], Bijvoet Center of Biomolecular Research, Academic Unit for Psychiatry of Old Age, University of Melbourne, Melbourne 3101, Australia, Department of Genomics, Life & Brain Center, University of Bonn, Bonn D-53127, Germany, University of Oxford [Oxford]-FMRIB Centre- John Radcliffe Hospital [Oxford University Hospital], School of Psychology, University of Sussex, Brighton BN1 9QH, UK, Charité - Universitätsmedizin Berlin / Charite - University Medicine Berlin, Department of Neurology [University of Calgary], Department of Clinical Neuroscience [University of Calgary], University of California [Irvine] (UCI), Medical Faculty [Mannheim]-Medical Faculty [Mannheim], Centre National de la Recherche Scientifique (CNRS)-Université Montpellier 2 - Sciences et Techniques (UM2)-Institut National de la Recherche Agronomique (INRA)-Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad), Universidate de Vigo, Harvard University [Cambridge], Radboud university [Nijmegen]-Radboud university [Nijmegen], Université Libre de Bruxelles [Bruxelles] (ULB)-Hôpital Erasme (Bruxelles), Universität Leipzig [Leipzig]-Universität Leipzig [Leipzig], Centre de Recherche Magellan, Institut d'Administration des Entreprises (IAE) - Lyon-Université Jean Moulin - Lyon 3 (UJML), Université de Lyon-Université de Lyon, Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-Institut National Polytechnique de Grenoble (INPG)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Università degli Studi di Perugia (UNIPG), Department of neurology, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland, Department of neurology, University of Eastern Finland-University Hospital of Kuopio-University of Eastern Finland-University Hospital of Kuopio, Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Service NEUROSPIN (NEUROSPIN), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Université de Bretagne Sud (UBS)-Institut Brestois du Numérique et des Mathématiques (IBNM), Université de Brest (UBO)-Université de Brest (UBO)-Université de Brest (UBO), The Alzheimer’s Disease Neuroimaging Initiative, The CHARGE Consortium, EPIGEN, IMAGEN, SYS, Radboud University Medical Center [Nijmegen]-Radboud university [Nijmegen]-Radboud University Medical Center [Nijmegen]-Radboud university [Nijmegen], Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), FMRIB Centre- John Radcliffe Hospital [Oxford University Hospital]-University of Oxford [Oxford], Massachusetts General Hospital [Boston]-Harvard Medical School [Boston] (HMS), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Institut National Polytechnique de Grenoble (INPG)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Life Course Epidemiology (LCE), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7)-Institut Pasteur [Paris], Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), University of Oxford [Oxford]- John Radcliffe Hospital [Oxford University Hospital]-FMRIB Centre, Neurology, Psychiatry, Anatomy and neurosciences, NCA - Neurobiology of mental health, EMGO - Mental health, NCA - Brain imaging technology, Biological Psychology, Cognitive Psychology, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, Neuroscience Campus Amsterdam - Brain Imaging Technology, EMGO+ - Mental Health, Child and Adolescent Psychiatry / Psychology, Epidemiology, Radiology & Nuclear Medicine, Laboratory of Neuro Imaging, David Geffen School of Medicine, University of California, Los Angeles, California, USA, Donders Centre for Neuroscience, Radboud University Nijmegen Medical Centre, MRC- SGDP Centre, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London SE5 8AF, UK, Génétique humaine et Fonctions cognitives - Human Genetics and Cognitive Functions, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique ( CNRS ), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 ( UPD7 ) -Centre National de la Recherche Scientifique ( CNRS ), German Center for Neurodegenerative Diseases (DZNE) Rostock/Greifswald, Greifswald 17487, Germany, Department of Psychiatry, University Medicine Greifswald, Greifswald 17489, Germany, Brain Center Rudolf Magnus, Department of Psychiatry, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands, Brain Research Imaging Centre, University of Edinburgh, Edinburgh EH4 2XU, UK, Department of Computer Science, Lagos State University, Lagos, Nigeria, Scottish Imaging Network, A Platform for Scientific Excellence (SINAPSE) Collaboration, Department of Neuroimaging Sciences, University of Edinburgh, Edinburgh EH4 2XU, UK, Heriot-Watt University [Edinburgh] ( HWU ), Institut National de la Recherche Agronomique ( INRA ) -Physiologie Animale et Systèmes d'Elevage ( PHASE ) -Unité d'expérimentation sur les Ruminants de Theix ( UE RT ), Department of Human Genetics, Radboud university medical center, Nijmegen 6500 HB, The Netherlands, Department of Cognitive Neuroscience, Radboud university medical center, Nijmegen 6500 HB, The Netherlands, NORMENT - KG Jebsen Centre, Institute of Clinical Medicine, University of Oslo, Oslo N-0316, Norway, NORMENT - KG Jebsen Centre, Division of Mental Health and Addiction, Oslo University Hospital, Oslo 0424, Norway, Montreal Neurological Institute [Montréal], NORMENT - KG Jebsen Centre for Psychosis Research, Department of Clinical Science, University of Bergen, 5021 Bergen, Norway, Dr. Einar Martens Research Group for Biological Psychiatry, Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen 5021, Norway, Physicochimie des Processus de Combustion et de l’Atmosphère - UMR 8522 ( PC2A ), Université de Lille-Centre National de la Recherche Scientifique ( CNRS ), Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen 6525 XD, The Netherlands, International Max Planck Research School for Language Sciences, Nijmegen 6525 XD, The Netherlands, Human Genetics Branch and Experimental Therapeutics and Pathophysiology Branch, National Institute of Mental Health Intramural Research Program, Bethesda, Maryland 20892, USA, Department of Psychology, Yale University, New Haven, Connecticut 06511, USA, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts 02115, USA, University College of London [London] ( UCL ), Center for Neuroimaging, Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA, Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA, Center for Neurobehavioral Genetics, University of California, Los Angeles, California 90095, USA, Université de Bonn, Department of Psychiatry, Neuroscience Campus Amsterdam, VU University Medical Center/GGZ inGeest, Amsterdam 1081 HL, The Netherlands, Division of Psychiatry, Royal Edinburgh Hospital, University of Edinburgh, Edinburgh EH10 5HF, UK, Imperial College London-School of public health-MRC-HPA Centre for Environment and Health, Cibersam (Centro Investigación Biomédica en Red Salud Mental), Madrid 28029, Spain, Institut Parisien de Chimie Moléculaire ( IPCM ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Centre National de la Recherche Scientifique ( CNRS ), Aging Research Center [Karolinska Institutet] ( ARC ), Max Planck Institute of Psychiatry, Munich 80804, Germany, Multimodal Imaging Laboratory, Department of Neurosciences, University of California, San Diego, California 92093, USA, Department of Cognitive Sciences, University of California, San Diego, California 92161, USA, Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia, Department of Psychology, University of Oslo, Oslo 0373, Norway, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal H3A 2B4, Canada, Molecular and Cellular Therapeutics, The Royal College of Surgeons, Dublin 2, Ireland, Institut National de la Recherche Agronomique ( INRA ) -MetaGénoPolis ( MGP ) -Microbiologie et Chaîne Alimentaire ( MICA ), UCL Institute of Neurology, London, United Kingdom and Epilepsy Society, London WC1N 3BG, UK, Department of Medicine, Imperial College London, London W12 0NN, UK, Centre for Cognitive Ageing and Cognitive Epidemiology, Psychology, University of Edinburgh, Edinburgh EH8 9JZ, UK, Yale School of Medicine, Olin Neuropsychiatric Research Center, Institute of Living, Hartford Hospital, Hartford, Connecticut 06106, USA, University College Dublin [Dublin] ( UCD ), Reta Lila Weston Institute and Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK, Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia, Centre épigénétique et destin cellulaire ( EDC ), Université Paris Diderot - Paris 7 ( UPD7 ) -Centre National de la Recherche Scientifique ( CNRS ), School of public health-Tehran University of Medical Siences, University of New South Wales [Sydney] ( UNSW ), Texas Biomedical Research Institute, San Antonio, Texas 78245, USA, Institute of Neuroscience and Medicine ( INM-1 ), University of Basel ( Unibas ), Cambridge University, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA, University of Texas Health Science Center, San Antonio, Texas 78229, USA, Clinical Research Branch, National Institute on Aging, Baltimore, Maryland 20892, USA, Institute of Diagnostic Radiology and Neuroradiology, University Medicine Greifswald, Greifswald 17475, Germany, University Medical Center Groningen, University of Groningen, University of Greifswald, Department of Radiology, Mayo Clinic, Rochester, Minnesota, USA, NICHD Brain and Tissue Bank for Developmental Disorders, University of Maryland Medical School, Baltimore, Maryland 21201, USA, nstitute of Cognitive Neuroscience, University College London, London WC1N 3AR, UK, Department of Psychiatry, Maryland Psychiatric Research Center, University of Maryland, Baltimore, Maryland 21201, USA, Department of Pathology and Cell Biology, Columbia University Medical Center, New York 10032, USA, Lymphocyte Cell Biology Unit, Laboratory of Genetics, National Institute on Aging, National Institutes of Health, Baltimore, Maryland 21224, USA, University of Oslo ( UiO ) -Institute of Clinical Medicine-Oslo University Hospital, Oslo University Hospital, Institute of Clinical Medicine, University of Oslo ( UiO ) -European Network of Bipolar Research Expert Centers (ENBREC) Group, Department of Psychiatry and Psychotherapy, Charité Universitätsmedizin Berlin, CCM, Berlin 10117, Germany, Erasmus MC, Laboratory of Neurogenetics, Intramural Research Program, National Institute on Aging, National Institutes of Health (NIH), Bethesda, Maryland, USA, Department of Psychiatry, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA, Central Institute of Mental Health, UMR 1098 Développement et Amélioration des Plantes, Institut National de la Recherche Agronomique ( INRA ) -Université Montpellier 2 - Sciences et Techniques ( UM2 ) -MontpellierSupAgro ( MontpellierSupAgro ) -Génétique et amélioration des plantes ( G.A.P. ) -Développement et Amélioration des Plantes ( DAP ), Laboratory of Neuro Imaging [Los Angeles] ( LONI ), University of California at Los Angeles [Los Angeles] ( UCLA ), Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh EH4 2XU, UK, Genentech, South San Francisco, California 94080, USA, Psychiatry and Leiden Institute for Brain and Cognition, Leiden University Medical Center, Leiden 2333 ZA, The Netherlands, LUMC, Carver College of Medicine, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm SE-141 83, Sweden, Behavioral Epidemiology Section, National Institute on Aging Intramural Research Program, Baltimore, Maryland 20892, USA, Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, UK, Center for Integrative and Translational Genomics, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA, Department of Genetics, Genomics, and Informatics, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA, Centre Interlangues - Texte, Image, Langage ( TIL ), Université de Bourgogne ( UB ), Centre for Ultrahigh Bandwidth Devices for Optical Systems ( CUDOS ), Icahn School of Medicine at Mount Sinai [New York], The Mind Research Network & LBERI, Albuquerque, New Mexico 87106, USA, Department of ECE, University of New Mexico, Albuquerque, New Mexico 87131, USA, Scottish Association for Marine Science ( SAMS ), Department of Neurology, Hopital Erasme, Universite Libre de Bruxelles, Brussels 1070, Belgium, National Institutes of Health ( NIH ) -National Institute of Mental Health (NIMH), Harvard Medical School [Boston] ( HMS ) -Massachusetts General Hospital [Boston], Department of Psychiatry, University of Iowa, Iowa City, Iowa 52242, USA, Luleå University of Technology ( LUT ), Broad Institute of MIT and Harvard, Massachusetts General Hospital, Vrije Universiteit Amsterdam [Amsterdam] ( VU ), Université Jean Moulin - Lyon III-Institut d'Administration des Entreprises (IAE) - Lyon, Institut de Socio-économie des Entreprises et des ORganisations ( ISEOR ), University Medicine Greifswald,-HELIOS Hospital Stralsund, Laboratoire d'Informatique de Grenoble ( LIG ), Université Pierre Mendès France - Grenoble 2 ( UPMF ) -Université Joseph Fourier - Grenoble 1 ( UJF ) -Institut National Polytechnique de Grenoble ( INPG ) -Centre National de la Recherche Scientifique ( CNRS ) -Université Grenoble Alpes ( UGA ), Molecular Research Center for Children’s Mental Development, United Graduate School of Child Development, Osaka University, Osaka 565-0871, Japan, Karolinska University Hospital (Solna), Medical University of Łódź ( MUL ), National Institutes of Health ( NIH ), University of Perugia, Commonwealth Scientific and Industrial Research Organisation, University Medical Center Utrecht-Brain Center Rudolf Magnus, University of Nottingham, UK ( UON ), McConnell Brain Imaging Centre ( MNI ), The Hospital for sick children [Toronto] ( SickKids ), Department of Medical and Molecular Genetics, King’s College London, London SE1 9RT, UK, European Centre for Medium-Range Weather Forecasts ( ECMWF ), Lieber Institute for Brain Development, Baltimore, Maryland 21205, USA, Departments of Psychiatry, Neurology, Neuroscience and the Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA, Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique ( CNRS ), Department of Psychiatry, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, Austrian Institute of Technology [Vienna] ( AIT ), Karlsruhe Institute of Technology ( KIT ), General Internal Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland 21205, USA, Department of Radiology, Erasmus Medical Center University Medical Center, Rotterdam, The Netherlands, Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA, Computer Science and Artificial Intelligence Laboratory [Cambridge] ( CSAIL ), Massachusetts Institute of Technology ( MIT ), Department of Epidemiology, University of Washington, Seattle, Washington, USA, Department of Neurology, University of Washington, Seattle, Washington, USA, Department of Physics, Stockholm University ( Department of Physics, Stockholm University ), Université de Lille, Sciences Humaines et Sociales, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA, Genetic Epidemiology Unit, Department of Epidemiology, Erasmus Medical Center University Medical Center, Rotterdam, The Netherlands, Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts 02118, USA, Groupe d'Imagerie Neurofonctionnelle ( GIN - UMR 5296 ), Service NEUROSPIN ( NEUROSPIN ), Direction de Recherche Fondamentale (CEA) ( DRF (CEA) ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) ( DRF (CEA) ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Centre National de la Recherche Scientifique ( CNRS ) -Université de Bordeaux ( UB ), Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, USA, Faculty of Medicine, University of Iceland, Reykjavik, Iceland, Department of Neurology, Boston University School of Medicine, Framingham Heart Study, Boston, MA, Department of Neurology, Erasmus Medical Center University Medical Center, Rotterdam, The Netherlands, Laboratoire d'Ingénierie des Matériaux de Bretagne ( LIMATB ), Université de Bretagne Sud ( UBS ) -Institut Brestois du Numérique et des Mathématiques ( IBNM ), Université de Brest ( UBO ) -Université de Brest ( UBO ) -Université de Brest ( UBO ), King's College, Department of Psychiatry, Radboud university medical center, Nijmegen 6500 HB, The Netherlands, and Broad Institute of © 2012 Nature America, Inc. All rights reserved. Nature Ge N etics aDV a NCE ONLINE PUBLIC a TION 7 l e t t e r s Harvard and MIT, Cambridge, Massachusetts, US
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CHROMATIN ,Male ,Netherlands Twin Register (NTR) ,Aging ,Identification ,nervous-system ,human geography ,SEGMENTATION ,Caudate nucleus ,Apoptosis ,Expression ,Genome-wide association study ,Striatum ,Hippocampal formation ,Hippocampus ,BASAL GANGLIA ,130 000 Cognitive Neurology & Memory ,Basal ganglia ,genetics [Gene Expression Regulation, Developmental] ,Hippocampal ,Child ,anatomy & histology [Skull] ,Aged, 80 and over ,Genetics ,Sex Characteristics ,KINECTIN ,Genome-wide association ,Multidisciplinary ,Putamen ,Brain ,Gene Expression Regulation, Developmental ,blood ,brain ,disease incidence ,genetic variation ,neurology ,Organ Size ,Human brain ,Middle Aged ,organization ,Magnetic Resonance Imaging ,genetics [Genetic Variation] ,Chromatin ,Dynamics ,genetics [Membrane Proteins] ,medicine.anatomical_structure ,genetics [Aging] ,Anatomy & histology ,[ SCCO.NEUR ] Cognitive science/Neuroscience ,Female ,ddc:500 ,anatomy & histology [Caudate Nucleus] ,Neuroinformatics ,EXPRESSION ,Adult ,Adolescent ,Evolution ,anatomy & histology [Hippocampus] ,ORGANIZATION ,genetics [Genetic Loci] ,Biology ,Article ,Young Adult ,SDG 3 - Good Health and Well-being ,Journal Article ,medicine ,Humans ,GENOME-WIDE ASSOCIATION ,General ,genetics [Apoptosis] ,Kinectin ,Aged ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,HIPPOCAMPAL ,IDENTIFICATION ,genetics [Organ Size] ,[SCCO.NEUR]Cognitive science/Neuroscience ,Skull ,segmentation ,Genetic Variation ,Membrane Proteins ,NERVOUS-SYSTEM ,anatomy & histology [Putamen] ,Genetic Loci ,KTN1 protein, human ,Caudate Nucleus ,anatomy & histology [Brain] ,Neuroscience ,Genome-Wide Association Study - Abstract
Contains fulltext : 144426.pdf (Publisher’s version ) (Closed access) Contains fulltext : 144426pre.pdf (Author’s version preprint ) (Open Access) The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume and intracranial volume. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 x 10(-33); 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction. 6 p.
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- 2015
5. Genome-wide association study of circulating interleukin 6 levels identifies novel loci
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Martina Müller-Nurasyid, Jerome I. Rotter, David M. Evans, John P. Kemp, Emelia J. Benjamin, Graciela E. Delgado, Vilmundur Gudnason, Ann Hammarstedt, Panos Deloukas, Aroon D. Hingorani, Riccardo E. Marioni, David Stacey, Jenny van Dongen, Eric Boerwinkle, Joachim Heinrich, Yongmei Liu, S. Goya Wannamethee, Delilah Zabaneh, Braxton D. Mitchell, Marie Standl, Jackie F. Price, Maria G. Stathopoulou, Yoav Ben-Shlomo, Joris Deelen, Eero Kajantie, Mohammadreza Abdollahi, Christie M. Ballantyne, Johan G. Eriksson, Ilkka Seppälä, Elnaz Naderi, Barbara J. Jefferis, Richard W Morris, Nicholas J. Timpson, George Dedoussis, Sirpa Jalkanen, Mika Kivimäki, Perminder S. Sachdev, Diana van Heemst, Melanie Waldenberger, Gaurav Singhal, Elisabeth Thiering, Olli T. Raitakari, Anders Hamsten, Zoltán Kutalik, L. Bain, Eco J. C. de Geus, Tarunveer S. Ahluwalia, Yuri Milaneschi, Hubert Scharnagl, Juan P. Casas, Georg Homuth, Claes Ohlsson, Abbas Dehghan, Nicola J. Armstrong, Behrooz Z. Alizadeh, Terho Lehtimäki, Steve E. Humphries, Naveed Sattar, Bram P. Prins, Peter Rossing, Sophie Visvikis-Siest, Joana A. Revez, Ilja M. Nolte, Stella Trompet, Harold Snieder, Marian Beekman, Diana Marek, Beate St Pourcain, Thorkild I. A. Sørensen, Silvia Naitza, Karen A. Mather, Uwe Völker, Eline Slagboom, Tina Shah, Magdalene C. Jawahar, Jens Baumert, Alexander Teumer, Dorret I. Boomsma, Marcus E. Kleber, Peter Vollenweider, Wolfgang Koenig, Brenda W.J.H. Penninx, Kenneth Rice, Ian J. Deary, Pedro Marques-Vidal, Donna K. Arnett, Eleonora Porcu, Jouke-Jan Hottenga, Maria Sabater-Lleal, Bruce M. Psaty, Matthias Nauck, Dan Mellström, Joel Eriksson, Bernhard T. Baune, Debbie A Lawlor, Catherine Toben, Peter H. Whincup, Toshiko Tanaka, Stavroula Kanoni, Katri Räikkönen, Gonneke Willemsen, Bengt Sennblad, Julian N. Trollor, Yalda Jamshidi, Sarah E. Harris, Jari Lahti, Joshua C. Bis, Peter Durda, Yen Pei C. Chang, Jorgen Engmann, Tom R. Gaunt, Stella Aslibekyan, Anbupalam Thalamuthu, Mary F. Feitosa, Angela Silveira, Tine Jess, Stela McLachlan, J. Wouter Jukema, Chen Lu, Simon P. Mooijaart, Tim D. Spector, Harald Grallert, Winfried März, Alexandros M. Petrelis, Manuel A. R. Ferreira, Meena Kumari, Stochastics, Biological Psychology, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases, APH - Mental Health, APH - Methodology, CHARGE Inflammation Working Group, Epidemiology, Tampere University, Department of Clinical Chemistry, Clinical Medicine, Steno Diabetes Center, University of Copenhagen = Københavns Universitet (KU), University of Groningen [Groningen], Murdoch University, University of Alabama at Birmingham [ Birmingham] (UAB), QIMR Berghofer Medical Research Institute, University College of London [London] (UCL), Helmholtz-Zentrum München (HZM), Leiden University Medical Center (LUMC), University of Bristol [Bristol], University of Washington [Seattle], University of Maryland School of Medicine, University of Maryland System, Vrije Universiteit Amsterdam [Amsterdam] (VU), VU University Medical Center [Amsterdam], University of Heidelberg, Medical Faculty, Swiss Institute of Bioinformatics [Lausanne] (SIB), Université de Lausanne (UNIL), Sahlgrenska Academy at University of Gothenburg [Göteborg], National Institute for Health and Welfare [Helsinki], University of Helsinki, William Harvey Research Institute, Barts and the London Medical School, University of Queensland [Brisbane], School of Public Health [Boston], Boston University [Boston] (BU), MRC Institute of Genetics and Molecular Medicine [Edinburgh] (IGMM), University of Edinburgh-Medical Research Council, University of Edinburgh, Amsterdam UMC, Interactions Gène-Environnement en Physiopathologie Cardio-Vasculaire (IGE-PCV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerche [Roma] (CNR), Karolinska Institutet [Stockholm], University of Tampere [Finland], Adelaide Medical School [Australia], University of Adelaide, Universität Greifswald - University of Greifswald, University of New South Wales [Sydney] (UNSW), Prince of Wales Hospital, Ludwig-Maximilians-Universität München (LMU), Baylor College of Medicine (BCM), Baylor University, Boston University School of Medicine (BUSM), VA Boston Healthcare System, Harokopio University of Athens, Max planck Institute for Biology of Ageing [Cologne], Larner College of Medicine [University of Vermont, Burlington], University of Vermont [Burlington], Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Interfaculty Institute for Genetics and Functional Genomics, Ernst-Moritz-Arndt-Universität Greifswald, University of Turku, St George's, University of London, Statens Serum Institut [Copenhagen], Medical Faculty [Mannheim], Wake Forest School of Medicine [Winston-Salem], Wake Forest Baptist Medical Center, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Johannes Gutenberg - Universität Mainz (JGU), Vrije Universiteit Medical Centre (VUMC), British Heart Foundation Glasgow Cardiovascular Research Centre (BHF GCRC), University of Glasgow-NHS Greater Glasgow and Clyde, Medical University Graz, Uppsala Universitet [Uppsala], Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Donders Institute for Brain, Cognition and Behaviour, Radboud university [Nijmegen], University of Kentucky, Melbourne Medical School [Melbourne], Faculty of Medicine, Dentistry and Health Sciences [Melbourne], University of Melbourne-University of Melbourne, University Hospital Münster - Universitaetsklinikum Muenster [Germany] (UKM), University of Maryland [Baltimore], Queen Mary University of London (QMUL), University of Iceland [Reykjavik], Ludwig Maximilian University [Munich] (LMU), Melbourne School of Population and Global Health [Melbourne], University of Melbourne, Deutsches Herzzentrum München (DHM), German Center for Cardiovascular Research (DZHK), Berlin Institute of Health (BIH), University of Ulm (UUlm), University of Essex, Greifswald University Hospital, Novo Nordisk Foundation Center for Basic Metabolic Research (CBMR), Faculty of Health and Medical Sciences, University of Copenhagen = Københavns Universitet (KU)-University of Copenhagen = Københavns Universitet (KU), King‘s College London, University of Cambridge [UK] (CAM), Harbor UCLA Medical Center [Torrance, Ca.], Erasmus University Medical Center [Rotterdam] (Erasmus MC), University of Texas Health Science Center, The University of Texas Health Science Center at Houston (UTHealth), Human Genome Sequencing Center [Houston] (HGSC), Baylor University-Baylor University, Psychiatry, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Digital Health, HUS Children and Adolescents, Lastentautien yksikkö, Children's Hospital, Clinicum, Department of Bacteriology and Immunology, Department of Public Health, Department of Psychology and Logopedics, Research Programs Unit, Johan Eriksson / Principal Investigator, Department of General Practice and Primary Health Care, Doctoral Programme in Human Behaviour, Life Course Epidemiology (LCE), Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET), and Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)
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AcademicSubjects/SCI01140 ,[SDV]Life Sciences [q-bio] ,Genome-wide association study ,030204 cardiovascular system & hematology ,DISEASE ,Pathogenesis ,Cohort Studies ,0302 clinical medicine ,cytokine ,SYSTEMIC-LUPUS-ERYTHEMATOSUS ,Association Studies Article ,ComputingMilieux_MISCELLANEOUS ,Genetics (clinical) ,Genetics ,0303 health sciences ,ARCHITECTURE ,CHRONIC INFLAMMATION ,1184 Genetics, developmental biology, physiology ,General Medicine ,RECEPTOR IL-6R GENE ,C-REACTIVE PROTEIN ,hla-drb1 gene ,3. Good health ,Medical genetics ,Medical Genetics ,chromosomes ,medicine.medical_specialty ,SUSCEPTIBILITY LOCI ,European Continental Ancestry Group ,Locus (genetics) ,Single-nucleotide polymorphism ,Biology ,Polymorphism, Single Nucleotide ,anti-inflammatory agents ,White People ,03 medical and health sciences ,medicine ,Humans ,Genetic Predisposition to Disease ,Interleukin 6 ,Molecular Biology ,Medicinsk genetik ,030304 developmental biology ,PRODUCE IL-6 ,Interleukin-6 ,Chromosome ,Receptors, Interleukin-6 ,RHEUMATOID-ARTHRITIS ,Interleukin 1 Receptor Antagonist Protein ,Gene Expression Regulation ,Genetic Loci ,CELLS ,biology.protein ,1182 Biochemistry, cell and molecular biology ,Human genome ,3111 Biomedicine ,Genome-Wide Association Study ,HLA-DRB1 Chains ,Interleukin-1 - Abstract
Interleukin 6 (IL-6) is a multifunctional cytokine with both pro- and anti-inflammatory properties with a heritability estimate of up to 61%. The circulating levels of IL-6 in blood have been associated with an increased risk of complex disease pathogenesis. We conducted a two-staged, discovery and replication meta genome-wide association study (GWAS) of circulating serum IL-6 levels comprising up to 67 428 (ndiscovery = 52 654 and nreplication = 14 774) individuals of European ancestry. The inverse variance fixed effects based discovery meta-analysis, followed by replication led to the identification of two independent loci, IL1F10/IL1RN rs6734238 on chromosome (Chr) 2q14, (Pcombined = 1.8 × 10−11), HLA-DRB1/DRB5 rs660895 on Chr6p21 (Pcombined = 1.5 × 10−10) in the combined meta-analyses of all samples. We also replicated the IL6R rs4537545 locus on Chr1q21 (Pcombined = 1.2 × 10−122). Our study identifies novel loci for circulating IL-6 levels uncovering new immunological and inflammatory pathways that may influence IL-6 pathobiology.
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- 2021
6. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
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Danielle J. Owen, David FitzPatrick, Nina Mann, Stuart B. Bauer, Ilona Krey, Heather C Mefford, Jacob Zyskind, Roger Fick, Ana C. Onuchic-Whitford, Floor A. M. Duijkers, Etienne Coyaud, Simon E. Fisher, Juliann M. Savatt, Richard P. Lifton, Isabel Ottlewski, Amelie T. van der Ven, Peter J. Hulick, Nancy Rodig, Michelle A. Baum, Marielle Alders, Elysa J. Marco, Konrad Platzer, Ghaleb Daouk, Hadas Ityel, Eva H. Brilstra, Ian A. Glass, Heiko Reutter, Adda L. Graham-Paquin, Makiko Nakayama, Michael A. J. Ferguson, Amy Kolb, Weining Lu, Florian Buerger, Prabha Senguttuvan, Marcia Ferguson, Ronen Schneider, Isabelle Thiffault, Hila Milo Rasouly, Verena Klämbt, Tobias Bartolomaeus, Evan Chen, Mao Youying, Amar J. Majmundar, Jia Rao, Carrie Costin, Dina Ahram, Ali G. Gharavi, Lot Snijders Blok, Avram Z. Traum, Franziska Kause, Konstantin Deutsch, Arianna Vino, Dervla M. Connaughton, Antonie D. Kline, Deborah R. Stein, Daanya Salmanullah, Maxime Bouchard, Estelle M.N. Laurent, Audrey Squire, Daniel G. MacArthur, Kristen M. Laricchia, Asaf Vivante, Thomas M. Kitzler, Jonathan St-Germain, Brian Raught, Heidi L. Rehm, Ellen van Binsbergen, Chen Han Wilfred Wu, Caroline M. Kolvenbach, Monkol Lek, Selvin Kumar, Jing Chen, Mustafa K. Khokha, Ankana Daga, Hong Xu, Andrew D. Sharrocks, N. V. Shcherbakova, Simone Sanna-Cherchi, Inna S. Povolotskaya, Tze Y Lim, Johanna M. Rieke, Katrina M. Dipple, Gabriel C. Dworschak, Michael J. Somers, Tobias Hermle, Stefan Kohl, Steve Seltzsam, Victoria Y. Voinova, Shirlee Shril, Ingrid M. Wentzensen, Daw Yang Hwang, Velibor Tasic, Shrikant Mane, Jonathan Marquez, Friedhelm Hildebrandt, Rufeng Dai, Paulien A Terhal, Loai A. Eid, Thomas D. Challman, Boston Children's Hospital, Harvard Medical School [Boston] (HMS), University of Western Ontario (UWO), Fudan University [Shanghai], University of Manchester [Manchester], Yale University [New Haven], McGill University = Université McGill [Montréal, Canada], Protéomique, Réponse Inflammatoire, Spectrométrie de Masse (PRISM) - U 1192 (PRISM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), University Health Network, University of Toronto, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Donders Institute for Brain, Cognition and Behaviour, Radboud University [Nijmegen], Radboud University Medical Center [Nijmegen], Brigham & Women’s Hospital [Boston] (BWH), Tel Aviv University (TAU), University of Amsterdam [Amsterdam] (UvA), Universität Leipzig, University Medical Center [Utrecht], Geisinger Autism & Developmental Medicine Institute [Danville, PA, USA] (ADMI), GeneDx [Gaithersburg, MD, USA], University of Akron, University of Washington [Seattle], William Harvey Research Institute, Barts and the London Medical School, University of Edinburgh, Mary Bridge Childrens Hospital [Tacoma, WA, USA], NorthShore University HealthSystem [Evanston, IL, USA], Institute of Child Health [Tamil Nadu, India] (Hospital for Children), Boston University [Boston] (BU), Cortica Healthcare [San Rafael, CA, USA], Moscow Medical Institute of Health Ministry [Moscow, Russia], Pirogov Russian National Research Medical University, Dr. Mehta's Hospitals [Tamil Nadu, India], Seattle Children’s Hospital, Children's Mercy Hospital [Kansas City], University of Missouri [Kansas City] (UMKC), University of Missouri System, Neuro Spinal Hospital [Dubai, UAE], University Children’s Hospital [Skopje, Macédoine], Columbia University [New York], University Hospital Bonn, Massachusetts General Hospital [Boston], Rockefeller University [New York], Yale School of Medicine [New Haven, Connecticut] (YSM), Human Genetics, ARD - Amsterdam Reproduction and Development, ACS - Pulmonary hypertension & thrombosis, Université de Lille-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Radboud university [Nijmegen], Tel Aviv University [Tel Aviv], Universität Leipzig [Leipzig], Pirogov Russian National Research Medical University [Moscow, Russia], Yale University School of Medicine, INSERM, Université de Lille, Protéomique, Réponse Inflammatoire, Spectrométrie de Masse (PRISM) - U1192, and SALZET, Michel
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0301 basic medicine ,Male ,Morpholino ,Xenopus ,030232 urology & nephrology ,Endogenous retrovirus ,[SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC] ,transcription regulator ,Interactome ,Epigenesis, Genetic ,Morpholinos ,Pathogenesis ,ZNF198 ,Mice ,0302 clinical medicine ,whole-exome sequencing ,Child ,Urinary Tract ,Genetics (clinical) ,Exome sequencing ,Genetics ,Mice, Knockout ,ZMYM2 ,genetic kidney disease ,Forkhead Transcription Factors ,FOXP1 ,3. Good health ,Pedigree ,extra-renal features ,DNA-Binding Proteins ,Child, Preschool ,Larva ,syndromic CAKUT ,Female ,Protein Binding ,Neuroinformatics ,Heterozygote ,Biology ,Article ,Amphibian Proteins ,03 medical and health sciences ,Exome Sequencing ,[SDV.BC.BC] Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC] ,Gene silencing ,Animals ,Humans ,Family ,Transcription factor ,FIM ,Infant ,Repressor Proteins ,030104 developmental biology ,genomic analysis ,Case-Control Studies ,Urogenital Abnormalities ,congenital anomalies of the kidney and urinary tract ,Mutation ,Transcription Factors - Abstract
International audience; Congenital anomalies of the kidney and urinary tract (CAKUT) constitute one of the most frequent birth defects and represent the most common cause of chronic kidney disease in the first three decades of life. Despite the discovery of dozens of monogenic causes of CA-KUT, most pathogenic pathways remain elusive. We performed whole-exome sequencing (WES) in 551 individuals with CAKUT and identified a heterozygous de novo stop-gain variant in ZMYM2 in two different families with CAKUT. Through collaboration, we identified in total 14 different heterozygous loss-of-function mutations in ZMYM2 in 15 unrelated families. Most mutations occurred de novo, indicating possible interference with reproductive function. Human disease features are replicated in X. tropicalis larvae with morpho-lino knockdowns, in which expression of truncated ZMYM2 proteins, based on individual mutations, failed to rescue renal and cranio-facial defects. Moreover, heterozygous Zmym2-deficient mice recapitulated features of CAKUT with high penetrance. The ZMYM2 protein is a component of a transcriptional corepressor complex recently linked to the silencing of developmentally regulated endoge-nous retrovirus elements. Using protein-protein interaction assays, we show that ZMYM2 interacts with additional epigenetic silencing complexes, as well as confirming that it binds to FOXP1, a transcription factor that has also been linked to CAKUT. In summary, our findings establish that loss-of-function mutations of ZMYM2, and potentially that of other proteins in its interactome, as causes of human CAKUT, offering new routes for studying the pathogenesis of the disorder.
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- 2020
7. Analysis of structural brain asymmetries in attention-deficit/hyperactivity disorder in 39 datasets
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Dirk J. Heslenfeld, Merel Postema, Paul M. Thompson, Sarah Baumeister, Tiffany M. Chaim-Avancini, Catharina A. Hartman, Sara Lera-Miguel, Patrick de Zeeuw, Sara Ambrosino, Neil A. Harrison, Marcus V. Zanetti, Philip Asherson, Joel T. Nigg, Liesbeth Reneman, David Coghill, Gustavo Sudre, Alysa E. Doyle, Francisco X. Castellanos, Tobias Banaschewski, Oscar Vilarroya, Mario Rodrigues Louzã, Kaylita Chantiluke, Annette Conzelmann, Georg G. von Polier, Lizanne J. S. Schweren, Anastasia Christakou, Klaus-Peter Lesch, Sarah Durston, Simon E. Fisher, Yuliya N. Yoncheva, Jochen Seitz, David C. Glahn, Timothy J. Silk, Norbert Skokauskas, Mark A. Bellgrove, Damien A. Fair, Geraldo F. Busatto, Georg C. Ziegler, Eric Earl, Yannis Paloyelis, Jeffery N. Epstein, Jaap Oosterlaan, Clare Kelly, Paulo Mattos, Gregor Kohls, Jan Haavik, Joseph Biederman, Janita Bralten, Neda Jahanshad, Claiton H.D. Bau, Thomas Ethofer, Paul Pauli, Cibele Edom Bandeira, Andreas Reif, Pieter J. Hoekstra, Theo G.M. van Erp, Susanne Walitza, Marie F. Høvik, Sarah Hohmann, Barbara Franke, Luisa Lázaro, Thomas Frodl, Tinatin Gogberashvili, Jonna Kuntsi, J. Antoni Ramos-Quiroga, Daniel Brandeis, Stephanie E. Novotny, Martine Hoogman, Juan Carlos Soliva Vila, Anouk Schrantee, Rosa Nicolau, Kerstin Konrad, Eileen Oberwelland Weiss, Ruth O'Gorman Tuura, Bernd Kardatzki, Felipe Almeida Picon, Hazel McCarthy, Yolanda Vives-Gilabert, Ana Cubillo, Charles B Malpas, Mara Cercignani, Astri J. Lundervold, Michael C. Stevens, Eugenio H. Grevet, Katya Rubia, Renata B. Cupertino, Philip Shaw, Georgii Karkashadze, Fernanda Tovar-Moll, Bob Oranje, Leyla Namazova-Baranova, A.A. Baranov, Andreas J. Fallgatter, Leanne Tamm, Terry L. Jernigan, Matt C. Gabel, Clyde Francks, Pedro G.P. Rosa, Stephen V. Faraone, Jan K. Buitelaar, Kerstin J. Plessen, Silvia Brem, Sarah E. Medland, Alasdair Vance, Ramona Baur-Streubel, ENIGMA ADHD Working Group, General Paediatrics, ARD - Amsterdam Reproduction and Development, Radiology and Nuclear Medicine, APH - Mental Health, APH - Personalized Medicine, ANS - Brain Imaging, ANS - Compulsivity, Impulsivity & Attention, Institut Català de la Salut, [Postema MC] Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands. [Hoogman M] Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands. Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, Netherlands. [Ambrosino S] NICHE lab, Department of Psychiatry, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands. [Asherson P] Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, UK. [Banaschewski T] Department of Child and Adolescent Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim/Heidelberg University, Mannheim, Germany. [Bandeira CE] Adulthood ADHD Outpatient Program (ProDAH), Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil. Department of Genetics, Institute of Biosciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. [Ramos-Quiroga JA] Servei de Psiquiatria, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca en Psiquiatria, Salut Mental i Addiccions, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Biomedical Network Research Centre on Mental Health (CIBERSAM), Barcelona, Catalonia, Spain. Departament de Psiquiatria i Medicina Legal, Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus, Cognitive Psychology, IBBA, Clinical Neuropsychology, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Pediatric surgery, and Radiology and nuclear medicine
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Dominància cerebral ,trastornos mentales::trastornos del desarrollo neurológico::trastornos generalizados del desarrollo del niño::trastorno del espectro del autismo [PSIQUIATRÍA Y PSICOLOGÍA] ,Autism Spectrum Disorder ,Caudate nucleus ,Attention-deficit ,Audiology ,sistema nervioso::sistema nervioso central::encéfalo [ANATOMÍA] ,0302 clinical medicine ,Mental Disorders::Neurodevelopmental Disorders::Attention Deficit and Disruptive Behavior Disorders::Attention Deficit Disorder with Hyperactivity [PSYCHIATRY AND PSYCHOLOGY] ,130 000 Cognitive Neurology & Memory ,Developmental and Educational Psychology ,Brain asymmetry ,Child ,media_common ,large-scale data ,brain laterality ,05 social sciences ,scale data ,Brain ,hyperactivity disorder ,brain asymmetry ,structural MRI ,Mental Disorders::Neurodevelopmental Disorders::Child Development Disorders, Pervasive::Autism Spectrum Disorder [PSYCHIATRY AND PSYCHOLOGY] ,Magnetic Resonance Imaging ,Psychiatry and Mental health ,Globus pallidus ,Attention‐ ,Autism spectrum disorder ,Psychology ,050104 developmental & child psychology ,Neuroinformatics ,Adult ,medicine.medical_specialty ,Adolescent ,media_common.quotation_subject ,deficit ,Nervous System::Central Nervous System::Brain [ANATOMY] ,Asymmetry ,behavioral disciplines and activities ,Article ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,Age groups ,mental disorders ,medicine ,Humans ,Attention deficit hyperactivity disorder ,0501 psychology and cognitive sciences ,ddc:610 ,large‐ ,Other subheadings::Other subheadings::/diagnostic imaging [Other subheadings] ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,Otros calificadores::Otros calificadores::/diagnóstico por imagen [Otros calificadores] ,Cervell - Imatgeria ,medicine.disease ,Trastorn per dèficit d'atenció amb hiperactivitat ,Attention Deficit Disorder with Hyperactivity ,Pediatrics, Perinatology and Child Health ,Orbitofrontal cortex ,Caudate Nucleus ,trastornos mentales::trastornos del desarrollo neurológico::trastornos conductuales disruptivos y déficit de atención::trastornos de déficit de atención con hiperactividad [PSIQUIATRÍA Y PSICOLOGÍA] ,030217 neurology & neurosurgery - Abstract
Objective Some studies have suggested alterations of structural brain asymmetry in attention-deficit/hyperactivity disorder (ADHD), but findings have been contradictory and based on small samples. Here, we performed the largest ever analysis of brain left-right asymmetry in ADHD, using 39 datasets of the ENIGMA consortium. Methods We analyzed asymmetry of subcortical and cerebral cortical structures in up to 1,933 people with ADHD and 1,829 unaffected controls. Asymmetry Indexes (AIs) were calculated per participant for each bilaterally paired measure, and linear mixed effects modeling was applied separately in children, adolescents, adults, and the total sample, to test exhaustively for potential associations of ADHD with structural brain asymmetries. Results There was no evidence for altered caudate nucleus asymmetry in ADHD, in contrast to prior literature. In children, there was less rightward asymmetry of the total hemispheric surface area compared to controls (t = 2.1, p = .04). Lower rightward asymmetry of medial orbitofrontal cortex surface area in ADHD (t = 2.7, p = .01) was similar to a recent finding for autism spectrum disorder. There were also some differences in cortical thickness asymmetry across age groups. In adults with ADHD, globus pallidus asymmetry was altered compared to those without ADHD. However, all effects were small (Cohen’s d from −0.18 to 0.18) and would not survive study-wide correction for multiple testing. Conclusion Prior studies of altered structural brain asymmetry in ADHD were likely underpowered to detect the small effects reported here. Altered structural asymmetry is unlikely to provide a useful biomarker for ADHD, but may provide neurobiological insights into the trait., Journal of Child Psychology and Psychiatry, 62 (10), ISSN:0021-9630, ISSN:1469-7610
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- 2021
8. ALICE: An open-source tool for automatic measurement of phoneme, syllable, and word counts from child-centered daylong recordings
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Alejandrina Cristia, Okko Räsänen, Marisa Casillas, Marvin Lavechin, Shreyas Seshadri, Dept Signal Process and Acoust, École normale supérieure, Max Planck Institute for Psycholinguistics, Aalto-yliopisto, Aalto University, Tampere University, and Computing Sciences
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Adult ,LENA ,Computer science ,Speech recognition ,Word count ,Experimental and Cognitive Psychology ,Language Development ,Article ,050105 experimental psychology ,Arts and Humanities (miscellaneous) ,Phone ,Speaker diarization ,Developmental and Educational Psychology ,Humans ,Speech ,0501 psychology and cognitive sciences ,Language development ,Child ,General Psychology ,Language ,computer.programming_language ,Word count estimation ,05 social sciences ,Acoustics ,113 Computer and information sciences ,Child-centered audio ,Speech processing ,Speaker diarisation ,Child, Preschool ,Psychology (miscellaneous) ,Syllable ,Alice (programming language) ,computer ,Child Language ,Word (computer architecture) ,050104 developmental & child psychology - Abstract
Recordings captured by wearable microphones are a standard method for investigating young children’s language environments. A key measure to quantify from such data is the amount of speech present in children’s home environments. To this end, the LENA recorder and software—a popular system for measuring linguistic input—estimates the number of adult words that children may hear over the course of a recording. However, word count estimation is challenging to do in a language- independent manner; the relationship between observable acoustic patterns and language-specific lexical entities is far from uniform across human languages. In this paper, we ask whether some alternative linguistic units, namely phone(me)s or syllables, could be measured instead of, or in parallel with, words in order to achieve improved cross-linguistic applicability and comparability of an automated system for measuring child language input. We discuss the advantages and disadvantages of measuring different units from theoretical and technical points of view. We also investigate the practical applicability of measuring such units using a novel system called Automatic LInguistic unit Count Estimator (ALICE) together with audio from seven child-centered daylong audio corpora from diverse cultural and linguistic environments. We show that language-independent measurement of phoneme counts is somewhat more accurate than syllables or words, but all three are highly correlated with human annotations on the same data. We share an open-source implementation of ALICE for use by the language research community, enabling automatic phoneme, syllable, and word count estimation from child-centered audio recordings.
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- 2021
9. Synchronization between Keyboard Typing and Neural Oscillations
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Linda Drijvers, Mitchel Stokkermans, Michael X Cohen, Joan Duprez, HAL UR1, Admin, Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Radboud University Medical Center [Nijmegen], Radboud University [Nijmegen], Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, JD was funded by the Rennes Clinical Neuroscience Institute (INCR:21www.incr.fr). MXC is funded by ERC-StG 638589. LD is funded by ERC-COG 773079, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Radboud University Medical Centre [Nijmegen, The Netherlands], and Radboud university [Nijmegen]
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Neuroinformatics ,Computer science ,Cognitive Neuroscience ,Speech recognition ,Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13] ,Electroencephalography ,050105 experimental psychology ,Synchronization ,Neural activity ,03 medical and health sciences ,All institutes and research themes of the Radboud University Medical Center ,0302 clinical medicine ,Rhythm ,Sniffing ,130 000 Cognitive Neurology & Memory ,medicine ,Humans ,0501 psychology and cognitive sciences ,Typing ,Theta Rhythm ,Neurons ,[SDV.IB] Life Sciences [q-bio]/Bioengineering ,Psycholinguistics ,medicine.diagnostic_test ,05 social sciences ,Brain ,160 000 Neuronal Oscillations ,Cognition ,Keyboard Typing ,Electrophysiology ,Interval (music) ,Breathing ,[SDV.IB]Life Sciences [q-bio]/Bioengineering ,Psychology ,030217 neurology & neurosurgery - Abstract
Rhythmic neural activity synchronizes with certain rhythmic behaviors, such as breathing, sniffing, saccades, and speech. The extent to which neural oscillations synchronize with higher-level and more complex behaviors is largely unknown. Here we investigated electrophysiological synchronization with keyboard typing, which is an omnipresent behavior daily engaged by an uncountably large number of people. Keyboard typing is rhythmic with frequency characteristics roughly the same as neural oscillatory dynamics associated with cognitive control, notably through midfrontal theta (4 -7 Hz) oscillations. We tested the hypothesis that synchronization occurs between typing and midfrontal theta, and breaks down when errors are committed. Thirty healthy participants typed words and sentences on a keyboard without visual feedback, while EEG was recorded. Typing rhythmicity was investigated by inter-keystroke interval analyses and by a kernel density estimation method. We used a multivariate spatial filtering technique to investigate frequency-specific synchronization between typing and neuronal oscillations. Our results demonstrate theta rhythmicity in typing (around 6.5 Hz) through the two different behavioral analyses. Synchronization between typing and neuronal oscillations occurred at frequencies ranging from 4 to 15 Hz, but to a larger extent for lower frequencies. However, peak synchronization frequency was idiosyncratic across subjects, therefore not specific to theta nor to midfrontal regions, and correlated somewhat with peak typing frequency. Errors and trials associated with stronger cognitive control were not associated with changes in synchronization at any frequency. As a whole, this study shows that brain-behavior synchronization does occur during keyboard typing but is not specific to midfrontal theta.Significance statementEvery day, millions of people type on keyboards. Keyboard typing is a rhythmic behavior, with inter-keystroke-intervals of around 135 ms (~7 Hz), which is roughly the same frequency as the brain rhythm implicated in cognitive control (“theta” band, ~6 Hz). Here we investigated the hypothesis that the EEG signature of cognitive control is synchronized with keyboard typing. By recording EEG during typing in 30 healthy subjects we showed that keyboard typing indeed follows theta rhythmicity, and that synchronization between typing and neural oscillations occurs. However, synchronization was not limited to theta but occurred at frequencies ranging from 4 to 15 Hz, and in several regions. Brain-behavior synchronization during typing thus seems more nuanced and complex than we originally hypothesized.
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- 2021
10. Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia
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Daniel Brandeis, Nazanin Mirza-Schreiber, Bruce F. Pennington, Shelley D. Smith, Guillaume Huguet, Milene Bonte, Franck Ramus, Valéria Csépe, Till F. M. Andlauer, Silvia Paracchini, Arndt Wilcke, Paavo H.T. Leppänen, Dénes Tóth, Markus M. Nöthen, Heikki Lyytinen, Jessica Becker, Thomas Bourgeron, Jacqueline Hulslander, Simon E. Fisher, Karin Landerl, Richard K. Olson, Bertram Müller-Myhsok, Fabien Fauchereau, Yves Chaix, Stéphanie Iannuzzi, Juha Kere, Jean-François Démonet, Darina Czamara, Anniek Vaessen, Beate St Pourcain, Andrew P. Morris, Clyde Francks, Per Hoffmann, Myriam Peyrard-Janvid, Ferenc Honbolygó, John C. DeFries, Urs Maurer, John F. Stein, Thomas S. Scerri, Holger Kirsten, Joel B. Talcott, Gerd Schulte-Körne, Anthony P. Monaco, Alessandro Gialluisi, Erik G. Willcutt, Kerstin U. Ludwig, Bent Müller, Kristina Moll, Johannes Schumacher, STEMM - Stem Cells and Metabolism Research Program, Juha Kere / Principal Investigator, Research Programs Unit, University of Helsinki, Language, RS: FPN CN 7, Max-Planck-Institut für Psychiatrie, Max-Planck-Gesellschaft, Munich Cluster for systems neurology [Munich] (SyNergy), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Ludwig-Maximilians-Universität München (LMU), Istituto Neurologico Mediterraneo (NEUROMED I.R.C.C.S.), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome]-Università degli studi di Napoli Federico II, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Helmholtz-Zentrum München (HZM), Ludwig-Maximilians-Universität München (LMU), University of Bonn, Max Planck Institute for Psycholinguistics, Radboud university [Nijmegen], University of Bristol [Bristol], Hungarian Academy of Sciences (MTA), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Toulouse Neuro Imaging Center (ToNIC), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Université de Lausanne (UNIL), University of Liverpool, University of Manchester [Manchester], University of Oxford [Oxford], University of Colorado [Boulder], University of Nebraska Medical Center, University of Nebraska System, University of Denver, Maastricht University [Maastricht], The Chinese University of Hong Kong [Hong Kong], University of Jyväskylä (JYU), Karolinska Institutet [Stockholm], Universität Zürich [Zürich] = University of Zurich (UZH), Eidgenössische Technische Hochschule - Swiss Federal Institute of Technology [Zürich] (ETH Zürich), Universität Heidelberg [Heidelberg], Aston University [Birmingham], Fraunhofer Institute for Cell Therapy and Immunology (Fraunhofer IZI), Fraunhofer (Fraunhofer-Gesellschaft), Universität Leipzig [Leipzig], Tufts University [Medford], Laboratoire de sciences cognitives et psycholinguistique (LSCP), Département d'Etudes Cognitives - ENS Paris (DEC), École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-École des hautes études en sciences sociales (EHESS)-Centre National de la Recherche Scientifique (CNRS), BioTechMed-Graz, Graz University of Technology [Graz] (TU Graz)-University of Graz-Medical University Graz, University of Melbourne, University of St Andrews [Scotland], AG and TFMA were supported by the Munich Cluster for Systems Neurology (SyNergy). AG was supported by Fondazione Umberto Veronesi. SP is a Royal Society University Research fellow. BMM, CF, BSP and SEF are supported by the Max Planck Society. AW, BM and HK were funded by the Fraunhofer Society and the Max Planck Society within the 'Pakt für Forschung und Innovation'. HK was also supported by LIFE—Leipzig Research Center for Civilization Diseases funded by means of the European Union, the European Regional Development Fund (ERDF), and the Free State of Saxony within the excellence initiative. FR is supported by Agence Nationale de la Recherche (ANR-06-NEURO-019-01, ANR-17-EURE-0017 IEC, ANR-10-IDEX-0001-02 PSL, ANR-11-BSV4-014-01), European Commission (LSHM-CT-2005-018696). TFMA was supported by the B.M.B.F. through the DIFUTURE consortium of the Medical Informatics Initiative Germany (grant 01ZZ1804A) and by the European Union’s Horizon 2020 Research and Innovation Programme (grant MultipleMS, EU RIA 733161)., ANR-06-NEUR-0019,GENEDYS,Origines cognitives, neurologiques et génétiques des troubles développementaux du langage(2006), ANR-17-EURE-0017,FrontCog,Frontières en cognition(2017), ANR-10-IDEX-0001,PSL,Paris Sciences et Lettres(2010), ANR-11-BSV4-0014,DYSBRAIN,Le cerveau dyslexique(2011), Graz University of Technology [Graz] (TU Graz)-Medical University Graz-Karl-Franzens-Universität [Graz, Autriche], Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA)-University of Naples Federico II = Università degli studi di Napoli Federico II, Helmholtz Zentrum München = German Research Center for Environmental Health, Universität Bonn = University of Bonn, Radboud University [Nijmegen], Institut Pasteur [Paris] (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Toulouse Mind & Brain Institut (TMBI), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université de Lausanne = University of Lausanne (UNIL), University of Oxford, Universität Heidelberg [Heidelberg] = Heidelberg University, Universität Leipzig, École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS-PSL), Graz University of Technology [Graz] (TU Graz)-Karl-Franzens-Universität Graz-Medical University Graz, Helsingin yliopisto = Helsingfors universitet = University of Helsinki, The Royal Society, University of St Andrews. School of Medicine, University of St Andrews. Centre for Biophotonics, University of St Andrews. Biomedical Sciences Research Complex, and University of St Andrews. Cellular Medicine Division
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Multifactorial Inheritance ,Intelligence ,LANGUAGE ,Genome-wide association study ,INTELLIGENCE ,Educational attaintment ,3124 Neurology and psychiatry ,Dyslexia ,READING-DISABILITY ,MOLECULAR-GENETICS ,0302 clinical medicine ,SCHIZOPHRENIA ,GWAS ,Brain cortical thickness ,Genetics ,0303 health sciences ,Intracellular Signaling Peptides and Proteins ,[SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences ,3. Good health ,ddc ,Psychiatry and Mental health ,SUSCEPTIBILITY GENE ,Schizophrenia ,BDC ,RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry ,Neuroinformatics ,Reading disability ,Bipolar disorder ,Developmental dyslexia ,NDAS ,QH426 Genetics ,Biology ,Polymorphism, Single Nucleotide ,INDIVIDUAL-DIFFERENCES ,Article ,Heritability ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,AGE ,medicine ,LOCUS ,Attention deficit hyperactivity disorder ,SNP ,ADHD ,Humans ,Genetic Predisposition to Disease ,Molecular Biology ,QH426 ,030304 developmental biology ,Polygenic risk ,medicine.disease ,Transverse temporal gyrus ,Reading ,Attention Deficit Disorder with Hyperactivity ,RC0321 ,Psychiatric disorders ,COMORBIDITY ,030217 neurology & neurosurgery ,Neuroscience ,Genome-Wide Association Study - Abstract
Funding: AG and TFMA were supported by the Munich Cluster for Systems Neurology (SyNergy). AG 535 was supported by Fondazione Umberto Veronesi. SP is a Royal Society University Research fellow. BMM, CF, BSP and SEF are supported by the Max Planck Society. AW, BM and HK were funded by the Fraunhofer Society and the Max Planck Society within the ‘Pakt für Forschung und Innovation’. HK was also supported by LIFE – Leipzig Research Center for Civilization Diseases funded by means of the European Union; the European Regional Development Fund (ERDF); and the Free State of Saxony within the excellence initiative. FR is supported by Agence Nationale de la Recherche (ANR-06-NEURO-019-01, ANR-17-EURE-542 0017 IEC, ANR-10-IDEX-0001-02 PSL, ANR-11-BSV4-014-01), European Commission (LSHM-CT-2005-018696). TFMA was supported by the BMBF through the DIFUTURE consortium of the Medical Informatics Initiative Germany (grant 01ZZ1804A) and by the European Union’s Horizon 2020 Research and Innovation Programme (grant MultipleMS, EU RIA 733161). Developmental dyslexia (DD) is a learning disorder affecting the ability to read, with a heritability of 40–60%. A notable part of this heritability remains unexplained, and large genetic studies are warranted to identify new susceptibility genes and clarify the genetic bases of dyslexia. We carried out a genome-wide association study (GWAS) on 2274 dyslexia cases and 6272 controls, testing associations at the single variant, gene, and pathway level, and estimating heritability using single-nucleotide polymorphism (SNP) data. We also calculated polygenic scores (PGSs) based on large-scale GWAS data for different neuropsychiatric disorders and cortical brain measures, educational attainment, and fluid intelligence, testing them for association with dyslexia status in our sample. We observed statistically significant (p
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- 2021
11. Evolution of communication signals and information during species radiation
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Maxime Garcia, Frédéric Sèbe, Jérôme Fuchs, Andrea Ravignani, Julien Clavel, Thibaut Marin-Cudraz, Nicolas Mathevon, Frédéric E. Theunissen, Fuchs, Jérôme, Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Evolutionary Biology and Environmental Studies, Universität Zürich [Zürich] = University of Zurich (UZH), The Helen Wills Neuroscience Institute (HWNI), University of California [Berkeley] (UC Berkeley), University of California (UC)-University of California (UC), Department of Psychology and Integrative Biology, Institut de biologie de l'Ecole Normale Supérieure (IBENS), École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Ecologie des Hydrosystèmes Naturels et Anthropisés (LEHNA), Université de Lyon-Université de Lyon-École Nationale des Travaux Publics de l'État (ENTPE)-Centre National de la Recherche Scientifique (CNRS), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Muséum national d'Histoire naturelle (MNHN), Institut de Systématique, Evolution, Biodiversité (ISYEB ), Muséum national d'Histoire naturelle (MNHN)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université des Antilles (UA), Institut Universitaire de France (IUF), Ministère de l'Education nationale, de l’Enseignement supérieur et de la Recherche (M.E.N.E.S.R.), University of Zurich, Garcia, Maxime, Mathevon, Nicolas, Centre de recherche en neurosciences de Lyon (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of California [Berkeley], University of California-University of California, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Paris (ENS Paris), and Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)
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0106 biological sciences ,0301 basic medicine ,Sympatry ,Speciation ,Information Theory ,General Physics and Astronomy ,Woodpecker ,Evolutionary ecology ,01 natural sciences ,clade radiation ,Character displacement ,Animal communication ,Passeriformes ,Clade ,lcsh:Science ,Phylogeny ,Multidisciplinary ,Phylogenetic tree ,communication ,[SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE] ,Animal behaviour ,Biological Evolution ,3100 General Physics and Astronomy ,Sympatric speciation ,490 Other languages ,590 Animals (Zoology) ,890 Other literatures ,evolution of communication ,Science ,410 Linguistics ,1600 General Chemistry ,Biology ,010603 evolutionary biology ,rhythm ,General Biochemistry, Genetics and Molecular Biology ,Article ,evolution ,bioacoustics ,03 medical and health sciences ,10127 Institute of Evolutionary Biology and Environmental Studies ,Species Specificity ,Phylogenetics ,1300 General Biochemistry, Genetics and Molecular Biology ,[SDV.BA.ZV]Life Sciences [q-bio]/Animal biology/Vertebrate Zoology ,[SDV.BID.EVO] Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE] ,Animals ,vocal signals ,Ecosystem ,biological information ,General Chemistry ,[SDV.EE.IEO] Life Sciences [q-bio]/Ecology, environment/Symbiosis ,Acoustics ,biology.organism_classification ,Animal Communication ,030104 developmental biology ,Evolutionary biology ,570 Life sciences ,biology ,lcsh:Q ,[SDV.BA.ZV] Life Sciences [q-bio]/Animal biology/Vertebrate Zoology ,[SDV.EE.IEO]Life Sciences [q-bio]/Ecology, environment/Symbiosis - Abstract
Communicating species identity is a key component of many animal signals. However, whether selection for species recognition systematically increases signal diversity during clade radiation remains debated. Here we show that in woodpecker drumming, a rhythmic signal used during mating and territorial defense, the amount of species identity information encoded remained stable during woodpeckers’ radiation. Acoustic analyses and evolutionary reconstructions show interchange among six main drumming types despite strong phylogenetic contingencies, suggesting evolutionary tinkering of drumming structure within a constrained acoustic space. Playback experiments and quantification of species discriminability demonstrate sufficient signal differentiation to support species recognition in local communities. Finally, we only find character displacement in the rare cases where sympatric species are also closely related. Overall, our results illustrate how historical contingencies and ecological interactions can promote conservatism in signals during a clade radiation without impairing the effectiveness of information transfer relevant to inter-specific discrimination., Animal signals often encode information on the emitter’s species identity. Using woodpecker drumming as a model, here the authors show that limited signal divergence during a clade radiation does not impair species discrimination, as long as the signals are adapted to local ecological requirements.
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- 2020
12. Foraging postures are a potential communicative signal in female bonobos
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Elisa Demuru, Dan Dediu, François Pellegrino, Florence Levréro, Dynamique Du Langage (DDL), Université Lumière - Lyon 2 (UL2)-Centre National de la Recherche Scientifique (CNRS), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Ecologie et Neuro-Ethologie Sensorielles (ENES), Université Jean Monnet [Saint-Étienne] (UJM), This work was supported by LabEX ASLAN—Advanced Studies on LANguage complexity (ANR-10-LABX-0081) and IDEXLYON (ANR-16-IDEX-005 and ANR-11-IDEX-0007) of the University of Lyon. The 2012 and 2014 data collections were funded by the University of Parma (Italy)., ANR-11-IDEX-0007,Avenir L.S.E.,Advanced Studies on Language Complexity(2011), ANR: IDEXLYON,ANR-16-IDEX-005, and ANR-16-IDEX-0005,IDEXLYON,IDEXLYON(2016)
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0106 biological sciences ,Functional role ,Male ,Pan troglodytes ,[SDV]Life Sciences [q-bio] ,Foraging ,Posture ,lcsh:Medicine ,Biology ,010603 evolutionary biology ,01 natural sciences ,Article ,Developmental psychology ,[SHS]Humanities and Social Sciences ,[SCCO]Cognitive science ,Animals ,0501 psychology and cognitive sciences ,Sex organ ,050102 behavioral science & comparative psychology ,lcsh:Science ,Social Behavior ,Social evolution ,Multidisciplinary ,Behavior, Animal ,Communication ,lcsh:R ,05 social sciences ,Sexual swelling ,Animal behaviour ,Pan paniscus ,Anogenital region ,lcsh:Q ,Female ,Social relevance - Abstract
Body postures are essential in animal behavioural repertoires and their communicative role has been assessed in a wide array of taxa and contexts. Some body postures function as amplifiers, a class of signals that increase the detection likelihood of other signals. While foraging on the ground, bonobos (Pan paniscus) can adopt different crouching postures exposing more or less of their genital area. To our knowledge, their potential functional role in the sociosexual life of bonobos has not been assessed yet. Here we show, by analysing more than 2,400 foraging events in 21 captive bonobos, that mature females adopt a rear-exposing posture (forelimb-crouch) and do so significantly more often when their anogenital region is swollen than during the non-swollen phase. In contrast, mature males almost completely avoid this posture. Moreover, this strong difference results from a diverging ontogeny between males and females since immature males and females adopt the forelimb-crouch at similar frequencies. Our findings suggest that the forelimb-crouch posture may play a communicative role of amplification by enhancing the visibility of female sexual swellings, a conspicuous signal that is very attractive for both males and females. Given the high social relevance of this sexual signal, our study emphasizes that postural signalling in primates probably deserves more attention, even outside of reproductive contexts.
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- 2020
13. A review on the electroencephalography markers of Stroop executive control processes
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Karin Heidlmayr, Frédéric Isel, Maria Kihlstedt, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Modèles, Dynamiques, Corpus (MoDyCo), and Université Paris Nanterre (UPN)-Centre National de la Recherche Scientifique (CNRS)
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Male ,Cognitive Neuroscience ,Experimental and Cognitive Psychology ,Electroencephalography ,050105 experimental psychology ,Conflict, Psychological ,[SCCO]Cognitive science ,03 medical and health sciences ,Executive Function ,0302 clinical medicine ,Arts and Humanities (miscellaneous) ,Conflict resolution ,Developmental and Educational Psychology ,medicine ,Reaction Time ,Humans ,0501 psychology and cognitive sciences ,[SHS.LANGUE]Humanities and Social Sciences/Linguistics ,Prefrontal cortex ,Evoked Potentials ,ComputingMilieux_MISCELLANEOUS ,Anterior cingulate cortex ,medicine.diagnostic_test ,05 social sciences ,Cognition ,Neurophysiology ,N400 ,Neuropsychology and Physiological Psychology ,medicine.anatomical_structure ,Stroop Test ,Female ,Psychology ,030217 neurology & neurosurgery ,Cognitive psychology ,Stroop effect - Abstract
International audience; The present article on executive control addresses the issue of the locus of the Stroop effect by examining neurophysiological components marking conflict monitoring, interference suppression, and conflict resolution. Our goal was to provide an overview of a series of determining neurophysiological findings including neural source reconstruction data on distinct executive control processes and sub-processes involved in the Stroop task. Consistently, a fronto-central N2 component is found to reflect conflict monitoring processes, with its main neural generator being the anterior cingulate cortex (ACC). Then, for cognitive control tasks that involve a linguistic component like the Stroop task, the N2 is followed by a centro-posterior N400 and subsequently a late sustained potential (LSP). The N400 is mainly generated by the ACC and the prefrontal cortex (PFC) and is thought to reflect interference suppression, whereas the LSP plausibly reflects conflict resolution processes. The present overview shows that ERP constitute a reliable methodological tool for tracing with precision the time course of different executive processes and sub-processes involved in experimental tasks involving a cognitive conflict. Future research should shed light on the fine-grained mechanisms of control respectively involved in linguistic and non-linguistic tasks.
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- 2020
14. A meta-analytic approach to evaluating the explanatory adequacy of theories
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Alejandrina Cristia, Sho Tsuji, Christina Bergmann, Laboratoire de sciences cognitives et psycholinguistique (LSCP), Département d'Etudes Cognitives - ENS Paris (DEC), École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-École des hautes études en sciences sociales (EHESS)-Centre National de la Recherche Scientifique (CNRS), The University of Tokyo (UTokyo), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, ANR-17-CE28-0007,LangAge,Différences dans l'apprenabilité du langage selon l'âge(2017), ANR-16-DATA-0004,ACLEW,Analyzing Child Language Experiences Around the World(2016), ANR-14-CE30-0003,MechELex,Méchanismes d'acquisition lexicale précoce(2014), ANR-17-EURE-0017,FrontCog,Frontières en cognition(2017), European Project: 659553,H2020,H2020-MSCA-IF-2014,SCIL(2016), and European Project: 660911,H2020,H2020-MSCA-IF-2014,VIOLA(2015)
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meta-analysis ,cumulative science ,replication ,explanatory adequacy ,quantitative ,variability ,effect size ,open science ,[SCCO.PSYC]Cognitive science/Psychology ,General Medicine ,theory adjudication ,[SCCO.LING]Cognitive science/Linguistics ,sample size - Abstract
International audience; How can data be used to check theories' explanatory adequacy? The two traditional and most widespread approaches use single studies and non-systematic narrative reviews to evaluate theories' explanatory adequacy; more recently, large-scale replications entered the picture. We argue here that none of these approaches fits in with cumulative science tenets. We propose instead Community-Augmented Meta-Analyses (CAMAs), which, like meta-analyses and systematic reviews, are built using all available data; like meta-analyses but not systematic reviews, can rely on sound statistical practices to model methodological effects; and like no other approach, are broad-scoped, cumulative and open. We explain how CAMAs entail a conceptual shift from meta-analyses and systematic reviews, a shift that is useful when evaluating theories' explanatory adequacy. We then provide step-by-step recommendations for how to implement this approach - and what it means when one cannot. This leads us to conclude that CAMAs highlight areas of uncertainty better than alternative approaches that bring data to bear on theory evaluation, and can trigger a much needed shift towards a cumulative mindset with respect to both theory and data, leading us to do and view experiments and narrative reviews differently.
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- 2020
15. Variability in the analysis of a single neuroimaging dataset by many teams
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Richard C. Reynolds, Jeremy Hogeveen, Joseph T. McGuire, Vittorio Iacovella, Gregory R. Samanez-Larkin, Cemal Koba, Paolo Avesani, Mikella A. Green, Margaret L. Schlichting, Claudio Toro-Serey, Tristan Glatard, Phui Cheng Lim, Emily A. Yearling, Simon B. Eickhoff, Katherine L. Bottenhorn, Susanne Weis, Andrew Erhart, Doris Pischedda, Mauricio R. Delgado, William A. Cunningham, Robert Langner, Matthew B. Wall, Amr Eed, Jorge Moll, Jeffrey B. Dennison, Wouter D. Weeda, Annabel B. Losecaat Vermeer, Anthony C. Juliano, Felix Hoffstaedter, Julia A. Camilleri, Nadège Bault, Cristian Buc Calderon, Xu Zhang, Gustav Tinghög, Vuong Truong, Leah Bakst, Stephan Heunis, Bertrand Thirion, Colin F. Camerer, Bradley C. Love, Tom Verguts, Luca Cecchetti, Patricia A. Reuter-Lorenz, Camille Maumet, Gabrielle Herman, Giacomo Handjaras, Michalis Kassinopoulos, Anthony Romyn, Xiangzhen Kong, Michael Notter, Nina Lauharatanahirun, Claire Donnat, Norberto Malpica, Jelle J. Goeman, Kamalaker Dadi, Michael Mack, Joke Durnez, Alberto De Luca, Margaret A. Sheridan, Shruti Ray, Colin Hawco, Enrico Glerean, J. Paul Hamilton, Qiang Shen, Sebastian Bobadilla-Suarez, Andrea Leo, David Wisniewski, Ayse Ilkay Isik, Lei Zhang, Bharat B. Biswal, Rotem Botvinik-Nezer, Flora Li, Bronson Harry, Andrew Jahn, Elise Lesage, Jean M. Vettel, Marco Barilari, Adrian I. Onicas, Susan Holmes, Khoi Vo, Aahana Bajracharya, Matthew Hughes, Rui Yuan, Nuri Erkut Kucukboyaci, Remi Gau, Sangsuk Yoon, Hongmi Lee, Alexandru D. Iordan, John Thorp, Russell A. Poldrack, Anna Dreber, Joshua E. Zosky, Dylan M. Nielson, Adriana S. Méndez Leal, Erin W. Dickie, Roeland Hancock, Tiago Bortolini, Kaustubh R. Patil, Monica Y.C. Li, Kristin N. Meyer, Fu Shiguang, Kenny Skagerlund, Juan Carlos de la Torre, Jennifer A. Silvers, R. Alison Adcock, Gustav Nilsonne, Zachary J. Cole, Emilio Sanz-Morales, Charles P. Davis, Michael Joseph, Sangil Lee, Tom Johnstone, Peder M. Isager, Jonathan E. Peelle, Emiliano Ricciardi, Scott A. Huettel, G. Matthew Fricke, Leonardo Tozzi, Brice A. Kuhl, Sagana Vijayarajah, Alexander Bowring, Jeanette A. Mumford, Blazej M. Baczkowski, Shabnam Hakimi, Sebastian Kupek, Michael Kirchler, Yanina Prystauka, Niall W. Duncan, Anna van 't Veer, Emily G. Brudner, Jamil P. Bhanji, Sarah M. Tashjian, Senne Braem, Paolo Papale, Simon R. Steinkamp, Georgios D. Mitsis, Kenneth S. L. Yuen, Magnus Johannesson, David J. White, Alec Smith, Krzysztof J. Gorgolewski, Alexander Leemans, Robert W. Cox, Emanuele Olivetti, Luca Turella, Juergen Huber, Tom Schonberg, David V. Smith, Lysia Demetriou, Peter Sokol-Hessner, Juergen Dukart, Glad Mihai, Taylor Salo, Jean-Baptiste Poline, Angela R. Laird, Sergej A.E. Golowin, Sarah Genon, Adriana Galván, Claus Lamm, Joseph W. Kable, Roni Iwanir, Theo Marins, Matthew R. Johnson, Anais Rodriguez-Thompson, Benjamin Meyer, Stefan Czoschke, Loreen Tisdall, Douglas H. Schultz, Evan N. Lintz, Derek Beaton, Peer Herholz, Olivia Guest, Jenny R. Rieck, Laura Fontanesi, Ekaterina Dobryakova, Alexandre Pérez, Olivier Collignon, Xin Di, Ruud Berkers, Sheryl B. Ball, Carlos González-García, Schuyler W. Liphardt, Edna C. Cieslik, Roland G. Benoit, João F. Guassi Moreira, Helena Melero, Jaime J. Castrellon, Hayley R. Brooks, Chuan-Peng Hu, Felix Holzmeister, Cheryl L. Grady, Thomas E. Nichols, Alba Xifra-Porxas, Steven H. Tompson, Kelsey McDonald, Julia Beitner, Timothy R. Koscik, Tel Aviv University (TAU), Dartmouth College [Hanover], Leopold Franzens Universität Innsbruck - University of Innsbruck, California Institute of Technology (CALTECH), Stockholm School of Economics (SSE), University of Wisconsin-Madison, Duke University [Durham], Fondazione Bruno Kessler [Trento, Italy] (FBK), University of Trento [Trento], Max Planck Institute for Human Cognitive and Brain Sciences [Leipzig] (IMPNSC), Max-Planck-Gesellschaft, Washington University in Saint Louis (WUSTL), Boston University [Boston] (BU), Virginia Tech [Blacksburg], Université Catholique de Louvain = Catholic University of Louvain (UCL), Plymouth University, Rotman Research Institute at the Baycrest Centre (RRI), University of Amsterdam [Amsterdam] (UvA), Goethe-University Frankfurt am Main, Rutgers University [Newark], Rutgers University System (Rutgers), New Jersey Institute of Technology [Newark] (NJIT), University of Electronic Science and Technology of China [Chengdu] (UESTC), University College of London [London] (UCL), D'Or Institute for Research and Education [Rio de Janeiro], Florida International University [Miami] (FIU), University of Oxford, Vrije Universiteit Brussel (VUB), Universiteit Gent = Ghent University (UGENT), University of Denver, Heinrich Heine Universität Düsseldorf = Heinrich Heine University [Düsseldorf], Jülich Research Centre, School for Advanced Studies Lucca (IMT), University of Nebraska–Lincoln, University of Nebraska System, National Institutes of Health [Bethesda] (NIH), University of Toronto, Modelling brain structure, function and variability based on high-field MRI data (PARIETAL), Service NEUROSPIN (NEUROSPIN), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Inria Saclay - Ile de France, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Lancashire Teaching Hospital, University of Connecticut (UCONN), University Medical Center [Utrecht], Imperial College London, Temple University [Philadelphia], Pennsylvania Commonwealth System of Higher Education (PCSHE), Kessler Foundation [East Hanover], Stanford University, Taipei Medical University, TMU-ShuangHo Hospital [New Taipei City], Instituto de Neurociencias de Alicante, University of Basel (Unibas), The University of New Mexico [Albuquerque], Zhejiang University of Technology, University of California [Los Angeles] (UCLA), University of California (UC), Université catholique de Lille (UCL), Concordia University [Montreal], Aalto University, Leiden University Medical Center (LUMC), Universiteit Leiden, Linköping University (LIU), Western Sydney University, Centre for Addiction and Mental Health [Toronto] (CAMH), McGill University = Université McGill [Montréal, Canada], Eindhoven University of Technology [Eindhoven] (TU/e), Epilepsy Centre Kempenhaeghe [Heeze], Leibniz-Institut für Resilienzforschung [Mainz] (LIR), Swinburne University of Technology (Hawthorn campus), University of Michigan [Ann Arbor], University of Michigan System, Max Planck Institute for Empirical Aesthetics [Frankfurt am Main], University of Pennsylvania, Max Planck Institute for Psycholinguistics, Carver College of Medicine, University of Iowa, Rutgers New Jersey Medical School (NJMS), University of Oregon [Eugene], University of Vienna [Vienna], Johns Hopkins University (JHU), Nanjing University (NJU), Haskins Laboratories, The Alan Turing Institute, Universidad Rey Juan Carlos [Madrid] (URJC), Neuroimagerie: méthodes et applications (Empenn), Institut National de la Santé et de la Recherche Médicale (INSERM)-Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-SIGNAUX ET IMAGES NUMÉRIQUES, ROBOTIQUE (IRISA-D5), Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT), University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), Technische Universität Dresden = Dresden University of Technology (TU Dresden), Karolinska Institutet [Stockholm], Stockholm University, Université de Lausanne = University of Lausanne (UNIL), Netherlands Institute for Neuroscience (NIN), Royal Netherlands Academy of Arts and Sciences (KNAW), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Humboldt University Of Berlin, Technical University of Berlin / Technische Universität Berlin (TU), University of California [Berkeley] (UC Berkeley), Columbia University [New York], Human Research and Engineering Directorate [Aberdeen Proving Ground], Stanford School of Medicine [Stanford], Stanford Medicine, Stanford University-Stanford University, University of California [Santa Barbara] (UC Santa Barbara), University of Dayton, Maumet, Camille, Technische Universität Berlin (TU), Leiden University, European Commission, Fundación 'la Caixa', Tel Aviv University [Tel Aviv], University of Innsbruck, University of Electronic Science and Technology of China (UESTC), University of Oxford [Oxford], Universiteit Gent = Ghent University [Belgium] (UGENT), University of Nebraska [Lincoln], Inria Saclay - Ile de France, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Service NEUROSPIN (NEUROSPIN), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, University of California, University of Pennsylvania [Philadelphia], Empenn, Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National de Recherche en Informatique et en Automatique (Inria)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-CentraleSupélec-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Lausanne (UNIL), Humboldt-Universität zu Berlin, University of California [Berkeley], University of California [Santa Barbara] (UCSB), Signal Processing Systems, and Human Technology Interaction
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Data Analysis ,Male ,Scientific community ,Computer science ,Decision ,Datasets as Topic ,Variation (game tree) ,Field (computer science) ,0302 clinical medicine ,Multidisciplinary approach ,Data Science/methods ,Models ,Meta-Analysis as Topic ,0303 health sciences ,Multidisciplinary ,medicine.diagnostic_test ,Brain ,Magnetic Resonance Imaging ,Research Personnel ,Datasets as Topic/statistics & numerical data ,Neurological ,Female ,ddc:500 ,Research Personnel/organization & administration ,Models, Neurological ,BF ,Article ,03 medical and health sciences ,Neuroimaging ,Functional neuroimaging ,Human behaviour ,medicine ,Humans ,030304 developmental biology ,Statistical hypothesis testing ,Flexibility (engineering) ,[SCCO.NEUR]Cognitive science/Neuroscience ,Functional Neuroimaging ,[SCCO.NEUR] Cognitive science/Neuroscience ,Data Science ,Reproducibility of Results ,Brain/diagnostic imaging ,Pipeline (software) ,Data science ,Workflow ,Logistic Models ,Functional magnetic resonance imaging ,Decision making ,030217 neurology & neurosurgery ,Software - Abstract
Botvinik-Nezer, Rotem et al., Data analysis workflows in many scientific domains have become increasingly complex and flexible. Here we assess the effect of this flexibility on the results of functional magnetic resonance imaging by asking 70 independent teams to analyse the same dataset, testing the same 9 ex-ante hypotheses. The flexibility of analytical approaches is exemplified by the fact that no two teams chose identical workflows to analyse the data. This flexibility resulted in sizeable variation in the results of hypothesis tests, even for teams whose statistical maps were highly correlated at intermediate stages of the analysis pipeline. Variation in reported results was related to several aspects of analysis methodology. Notably, a meta-analytical approach that aggregated information across teams yielded a significant consensus in activated regions. Furthermore, prediction markets of researchers in the field revealed an overestimation of the likelihood of significant findings, even by researchers with direct knowledge of the dataset. Our findings show that analytical flexibility can have substantial effects on scientific conclusions, and identify factors that may be related to variability in the analysis of functional magnetic resonance imaging. The results emphasize the importance of validating and sharing complex analysis workflows, and demonstrate the need for performing and reporting multiple analyses of the same data. Potential approaches that could be used to mitigate issues related to analytical variability are discussed., European Union’s Horizon 2020 research and innovation programme (https://ec.europa.eu/programmes/horizon2020/en) under the Marie Skłodowska-Curie grant agreement no. 665501. A. Eed was supported by a predoctoral fellowship La Caixa-Severo Ochoa from Obra Social La Caixa. S.B.E. was supported by the European Union’s Horizon 2020 Research and Innovation Programme under grant agreement no. 785907 (HBP SGA2).
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- 2020
16. Reading music and words: The anatomical connectivity of musicians’ visual cortex
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Michel Thiebaut de Schotten, Valeria Mongelli, Laurent D. Cohen, Florence Bouhali, Sorbonne Université (SU), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of California, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, University of Amsterdam [Amsterdam] (UvA), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Fédération de neurologie 4, Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Gestionnaire, Hal Sorbonne Université, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of California (UC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), and Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)
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Adult ,Male ,Musical notation ,Cognitive Neuroscience ,media_common.quotation_subject ,[SDV]Life Sciences [q-bio] ,Musicians ,Musical ,Music notation ,behavioral disciplines and activities ,050105 experimental psychology ,lcsh:RC321-571 ,03 medical and health sciences ,[SCCO]Cognitive science ,0302 clinical medicine ,Reading (process) ,medicine ,Humans ,Visual Pathways ,0501 psychology and cognitive sciences ,Visual word form area ,lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry ,ComputingMilieux_MISCELLANEOUS ,Visual Cortex ,media_common ,Temporal cortex ,Neural correlates of consciousness ,[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology ,Structural connectivity ,05 social sciences ,Structure-function relationship ,Cognition ,[SCCO] Cognitive science ,humanities ,[SDV] Life Sciences [q-bio] ,Diffusion Tensor Imaging ,Visual cortex ,medicine.anatomical_structure ,Neurology ,Reading ,Visual Perception ,Female ,Psychology ,human activities ,Music ,030217 neurology & neurosurgery ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology ,Cognitive psychology - Abstract
International audience; Musical score reading and word reading have much in common, from their historical origins to their cognitive foundations and neural correlates. In the ventral occipitotemporal cortex (VOT), the specialization of the so-called Visual Word Form Area for word reading has been linked to its privileged structural connectivity to distant language regions. Here we investigated how anatomical connectivity relates to the segregation of regions specialized for musical notation or words in the VOT. In a cohort of professional musicians and non-musicians, we used probabilistic tractography combined with task-related functional MRI to identify the connections of individually defined word- and music-selective left VOT regions. Despite their close proximity, these regions differed significantly in their structural connectivity, irrespective of musical expertise. The music-selective region was significantly more connected to posterior lateral temporal regions than the word-selective region, which, conversely, was significantly more connected to anterior ventral temporal cortex. Furthermore, musical expertise had a double impact on the connectivity of the music region. First, music tracts were significantly larger in musicians than in non-musicians, associated with marginally higher connectivity to perisylvian music-related areas. Second, the spatial similarity between music and word tracts was significantly increased in musicians, consistently with the increased overlap of language and music functional activations in musicians, as compared to non-musicians. These results support the view that, for music as for words, very specific anatomical connections influence the specialization of distinct VOT areas, and that reciprocally those connections are selectively enhanced by the expertise for word or music reading.
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- 2020
17. Neuroplasticity in the phonological system: The PMN and the N400 as markers for the perception of non-native phonemic contrasts by late second language learners
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Karin Heidlmayr, Emmanuel Ferragne, Frédéric Isel, Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Centre de Linguistique Inter-langues, de Lexicologie, de Linguistique Anglaise et de Corpus (CLILLAC-ARP (URP_3967)), Université de Paris (UP), Modèles, Dynamiques, Corpus (MoDyCo), Université Paris Nanterre (UPN)-Centre National de la Recherche Scientifique (CNRS), Projet SOPHOCLE - IDEX Sorbonne Paris Cité, ANR-10-LABX-0083,EFL,Empirical Foundations of Linguistics : data, methods, models(2010), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Université Paris Cité (UPCité)
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Male ,Deep linguistic processing ,Cognitive Neuroscience ,Mismatch negativity ,Experimental and Cognitive Psychology ,Context (language use) ,Multilingualism ,050105 experimental psychology ,Phonemic contrast ,03 medical and health sciences ,Behavioral Neuroscience ,[SCCO]Cognitive science ,0302 clinical medicine ,Semantic memory ,Animals ,Humans ,0501 psychology and cognitive sciences ,[SHS.LANGUE]Humanities and Social Sciences/Linguistics ,Evoked Potentials ,ComputingMilieux_MISCELLANEOUS ,Language ,Neuronal Plasticity ,Sheep ,05 social sciences ,Phonology ,Electroencephalography ,Second-language acquisition ,N400 ,Semantics ,Female ,Perception ,Psychology ,030217 neurology & neurosurgery ,Cognitive psychology - Abstract
Second language (L2) learners frequently encounter persistent difficulty in perceiving certain non-native sound contrasts, i.e., a phenomenon called “phonological deafness”. However, if extensive L2 experience leads to neuroplastic changes in the phonological system, then the capacity to discriminate non-native phonemic contrasts should progressively improve. Such perceptual changes should be attested by modifications at the neurophysiological level. We designed an EEG experiment in which the listeners’ perceptual capacities to discriminate second language phonemic contrasts influence the processing of lexical-semantic violations. Semantic congruency of critical words in a sentence context was driven by a phonemic contrast that was unique to the L2, English (e.g.,/ɪ/-/i:/, ship – sheep). Twenty-eight young adult native speakers of French with intermediate proficiency in English listened to sentences that contained either a semantically congruent or incongruent critical word (e.g., The anchor of the ship/*sheep was let down) while EEG was recorded. Three ERP effects were found to relate to increasing L2 proficiency: (1) a left frontal auditory N100 effect, (2) a smaller fronto-central phonological mismatch negativity (PMN) effect and (3) a semantic N400 effect. No effect of proficiency was found on oscillatory markers. The current findings suggest that neuronal plasticity in the human brain allows for the late acquisition of even hard-wired linguistic features such as the discrimination of phonemic contrasts in a second language. This is the first time that behavioral and neurophysiological evidence for the critical role of neural plasticity underlying L2 phonological processing and its interdependence with semantic processing has been provided. Our data strongly support the idea that pieces of information from different levels of linguistic processing (e.g., phonological, semantic) strongly interact and influence each other during online language processing.
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- 2020
18. A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development
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Simon E. Fisher, Bernard Mazoyer, Ingrid E. Scheffer, Else Eising, Arianna Vino, Angela T Morgan, Edythe A. Strand, Richard Webster, Melanie Bahlo, Lawrence D. Shriberg, Michael S. Hildebrand, Amaia Carrion-Castillo, Clyde Francks, Thomas S. Scerri, Kathy J. Jakielski, Alan Ma, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Mayo Clinic [Rochester], University of Melbourne, [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), and Hal, GIN
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Neuroinformatics ,0301 basic medicine ,Proband ,Apraxias ,[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology ,Gene regulatory network ,[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics ,Biology ,Genome ,Speech Disorders ,Article ,Language in Interaction ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,0302 clinical medicine ,[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN] ,Genetics ,medicine ,Humans ,Speech ,Gene Regulatory Networks ,Gene ,Molecular Biology ,Histone Acetyltransferases ,Regulator gene ,Homeodomain Proteins ,Regulation of gene expression ,[SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology ,DNA Helicases ,Intracellular Signaling Peptides and Proteins ,Brain ,Gene Expression Regulation, Developmental ,Nuclear Proteins ,RNA-Binding Proteins ,FOXP2 ,Histone-Lysine N-Methyltransferase ,medicine.disease ,Psychiatry and Mental health ,030104 developmental biology ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Childhood apraxia of speech ,[SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN] ,Carrier Proteins ,030217 neurology & neurosurgery ,Mi-2 Nucleosome Remodeling and Deacetylase Complex ,Transcription Factors ,Neuroscience - Abstract
International audience; Genetic investigations of people with impaired development of spoken language provide windows into key aspects of human biology. Over 15 years after FOXP2 was identified, most speech and language impairments remain unexplained at the molecular level. We sequenced whole genomes of nineteen unrelated individuals diagnosed with childhood apraxia of speech, a rare disorder enriched for causative mutations of large effect. Where DNA was available from unaffected parents, we discovered de novo mutations, implicating genes, including CHD3, SETD1A and WDR5. In other probands, we identified novel loss-of-function variants affecting KAT6A, SETBP1, ZFHX4, TNRC6B and MKL2, regulatory genes with links to neurodevelopment. Several of the new candidates interact with each other or with known speech-related genes. Moreover, they show significant clustering within a single co-expression module of genes highly expressed during early human brain development. This study highlights gene regulatory pathways in the developing brain that may contribute to acquisition of proficient speech.
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- 2018
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19. Language documentation twenty-five years on
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Nicholas Evans, Harald Hammarström, Stephen C. Levinson, Frank Seifart, Seifart, Frank, ACLC (FGw), Dynamique Du Langage (DDL), Université Lumière - Lyon 2 (UL2)-Centre National de la Recherche Scientifique (CNRS), Max Planck Institute for Psycholinguistics, and Max-Planck-Gesellschaft
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060201 languages & linguistics ,Linguistics and Language ,endangered languages ,History ,language description ,Interpretation (philosophy) ,Face (sociological concept) ,history of linguistics ,Context (language use) ,06 humanities and the arts ,Language documentation ,Variety (linguistics) ,Semantics ,[SHS.LANGUE] Humanities and Social Sciences/Linguistics ,Language and Linguistics ,Linguistics ,Bridging (programming) ,Transcription (linguistics) ,language documentation ,0602 languages and literature ,linguistic diversity ,[SHS.LANGUE]Humanities and Social Sciences/Linguistics - Abstract
International audience; This discussion note reviews responses of the linguistics profession to the grave issues of language endangerment identified a quarter of a century ago in the journal Language by Krauss, Hale, England, Craig, and others (Hale et al. 1992). Two and a half decades of worldwide research not only have given us a much more accurate picture of the number, phylogeny, and typological variety of the world's languages, but they have also seen the development of a wide range of new approaches, conceptual and technological, to the problem of documenting them. We review these approaches and the manifold discoveries they have unearthed about the enormous variety of linguistic structures. The reach of our knowledge has increased by about 15% of the world's languages , especially in terms of digitally archived material, with about 500 languages now reasonably documented thanks to such major programs as DoBeS, ELDP, and DEL. But linguists are still falling behind in the race to document the planet's rapidly dwindling linguistic diversity, with around 35-42% of the world's languages still substantially undocumented, and in certain countries (such as the US) the call by Krauss (1992) for a significant professional realignment toward language documentation has only been heeded in a few institutions. Apart from the need for an intensified documentarist push in the face of accelerating language loss, we argue that existing language documentation efforts need to do much more to focus on crosslinguistically comparable data sets, sociolinguistic context, semantics, and interpretation of text material, and on methods for bridging the 'transcription bottleneck', which is creating a huge gap between the amount we can record and the amount in our transcribed corpora.*
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- 2018
20. Humans identify negative (but not positive) arousal in silver fox vocalizations: implications for the adaptive value of interspecific eavesdropping
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Elena V. Volodina, Piera Filippi, Ilya A. Volodin, Bart de Boer, Svetlana S. Gogoleva, Institute of Language, Communication and the Brain (ILCB), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de psychologie cognitive (LPC), Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), Laboratoire Parole et Langage (LPL), Artificial Intelligence Laboratory, Vrije Universiteit Brussel, Vrije Universiteit Brussel [Bruxelles] (VUB), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Informatics and Applied Informatics, and ANR-16-CONV-0002,ILCB,ILCB: Institute of Language Communication and the Brain(2016)
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0106 biological sciences ,Adaptive value ,Special Column: Animal Vocal Communication: Function, Structures, and Production Mechanisms ,[SHS.PSY]Humanities and Social Sciences/Psychology ,Emotional valence ,Biology ,Affect (psychology) ,010603 evolutionary biology ,01 natural sciences ,Article ,silver foxes ,Arousal ,emotional arousal ,Guest Editors: Maxime Garcia, Enes Lab, Neuro-Psi, CNRS UMR 9197, Université Lyon/Saint-Etienne, France, Livio FAVARO, Dipartimento di Scienze della Vita e Biologia dei Sistemi, Università degli Studi di Torino, Italy ,inter-species communication ,0501 psychology and cognitive sciences ,050102 behavioral science & comparative psychology ,ComputingMilieux_MISCELLANEOUS ,Ecology ,[SDV.BA]Life Sciences [q-bio]/Animal biology ,05 social sciences ,eavesdropping ,Eavesdropping ,Interspecific competition ,Silver fox ,emotional valence ,vocal communication ,Animal Science and Zoology ,Emotional arousal ,Cognitive psychology - Abstract
The ability to identify emotional arousal in heterospecific vocalizations may facilitate behaviors that increase survival opportunities. Crucially, this ability may orient inter-species interactions, particularly between humans and other species. Research shows that humans identify emotional arousal in vocalizations across multiple species, such as cats, dogs, and piglets. However, no previous study has addressed humans’ ability to identify emotional arousal in silver foxes. Here, we adopted low- and high-arousal calls emitted by three strains of silver fox—Tame, Aggressive, and Unselected—in response to human approach. Tame and Aggressive foxes are genetically selected for friendly and attacking behaviors toward humans, respectively. Unselected foxes show aggressive and fearful behaviors toward humans. These three strains show similar levels of emotional arousal, but different levels of emotional valence in relation to humans. This emotional information is reflected in the acoustic features of the calls. Our data suggest that humans can identify high-arousal calls of Aggressive and Unselected foxes, but not of Tame foxes. Further analyses revealed that, although within each strain different acoustic parameters affect human accuracy in identifying high-arousal calls, spectral center of gravity, harmonic-to-noise ratio, and F0 best predict humans’ ability to discriminate high-arousal calls across all strains. Furthermore, we identified in spectral center of gravity and F0 the best predictors for humans’ absolute ratings of arousal in each call. Implications for research on the adaptive value of inter-specific eavesdropping are discussed.
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- 2017
21. The more, the better? Behavioral and neural correlates of frequent and infrequent vowel exposure
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Yasuyo Minagawa, Luca Filippin, Alejandrina Cristia, Paula Fikkert, Emmanuel Dupoux, Sho Tsuji, Peter Hagoort, Maarten Versteegh, University of Pennsylvania, Radboud University [Nijmegen], Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Keio University, Laboratoire de sciences cognitives et psycholinguistique (LSCP), Département d'Etudes Cognitives - ENS Paris (DEC), École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-École des hautes études en sciences sociales (EHESS)-Centre National de la Recherche Scientifique (CNRS), Apprentissage machine et développement cognitif (CoML), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-École des hautes études en sciences sociales (EHESS)-Centre National de la Recherche Scientifique (CNRS)-Département d'Etudes Cognitives - ENS Paris (DEC), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-École des hautes études en sciences sociales (EHESS)-Centre National de la Recherche Scientifique (CNRS)-Inria de Paris, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), University of Pennsylvania [Philadelphia], Radboud university [Nijmegen], École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS Paris), Inria de Paris, and Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire de sciences cognitives et psycholinguistique (LSCP)
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Male ,medicine.medical_specialty ,Speech perception ,110 000 Neurocognition of Language ,Audiology ,Language Development ,050105 experimental psychology ,Attunement ,[SCCO]Cognitive science ,03 medical and health sciences ,Behavioral Neuroscience ,Discrimination, Psychological ,0302 clinical medicine ,Developmental Neuroscience ,Functional neuroimaging ,Vowel ,Developmental and Educational Psychology ,medicine ,Humans ,0501 psychology and cognitive sciences ,Habituation ,10. No inequality ,First Language Acquisition ,ComputingMilieux_MISCELLANEOUS ,Neural correlates of consciousness ,Spectroscopy, Near-Infrared ,Psycholinguistics ,[SCCO.NEUR]Cognitive science/Neuroscience ,Functional Neuroimaging ,05 social sciences ,Brain ,Infant ,Contrast (statistics) ,Language & Communication ,Language development ,Speech Perception ,Female ,Language and Communication [DI-BCB_DCC_Theme 1] ,Psychology ,Social psychology ,030217 neurology & neurosurgery ,Developmental Biology - Abstract
Item does not contain fulltext A central assumption in the perceptual attunement literature holds that exposure to a speech sound contrast leads to improvement in native speech sound processing. However, whether the amount of exposure matters for this process has not been put to a direct test. We elucidated indicators of frequency-dependent perceptual attunement by comparing 5-8-month-old Dutch infants’ discrimination of tokens containing a highly frequent [hɪt-he:t] and a highly infrequent [hʏt-hø:t] native vowel contrast as well as a non-native [hɛt-hæt] vowel contrast in a behavioral visual habituation paradigm (Experiment 1). Infants discriminated both native contrasts similarly well, but did not discriminate the non-native contrast. We sought further evidence for subtle differences in the processing of the two native contrasts using near-infrared spectroscopy and a within-participant design (Experiment 2). The neuroimaging data did not provide additional evidence that responses to native contrasts are modulated by frequency of exposure. These results suggest that even large differences in exposure to a native contrast may not directly translate to behavioral and neural indicators of perceptual attunement, raising the possibility that frequency of exposure does not influence improvements in discriminating native contrasts. 10 p.
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- 2017
22. Different languages, similar encoding efficiency: Comparable information rates across the human communicative niche
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Dan Dediu, Yoon Mi Oh, Christophe Coupé, François Pellegrino, Dynamique Du Langage (DDL), Université Lumière - Lyon 2 (UL2)-Centre National de la Recherche Scientifique (CNRS), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, and European Institutes for Advanced Study (EURIAS) Fellowship 2017-2018IDEXLYON (16-IDEX-0005) Fellowship grant (2018-2021)LABEX ASLAN (ANR-10-LABX-0081) of Université de Lyon within the French program Investissements d’Avenir program (ANR-11-IDEX-0007) operated by the National Research Agency (ANR).
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Property (programming) ,Social Sciences ,ENCODE ,computer.software_genre ,050105 experimental psychology ,Heterogeneous-Nuclear Ribonucleoproteins ,03 medical and health sciences ,[SCCO]Cognitive science ,0302 clinical medicine ,Encoding (memory) ,Humans ,Speech ,Psychology ,0501 psychology and cognitive sciences ,Research Articles ,ComputingMilieux_MISCELLANEOUS ,Language ,Multidisciplinary ,business.industry ,Intersection (set theory) ,Communication ,05 social sciences ,SciAdv r-articles ,Linguistics ,[SCCO.LING]Cognitive science/Linguistics ,Niche construction ,Variation (linguistics) ,Artificial intelligence ,Syllable ,business ,computer ,030217 neurology & neurosurgery ,Natural language processing ,Natural language ,Research Article - Abstract
Human languages encode similar average information rates (~39 bits/s) despite their remarkable differences., Language is universal, but it has few indisputably universal characteristics, with cross-linguistic variation being the norm. For example, languages differ greatly in the number of syllables they allow, resulting in large variation in the Shannon information per syllable. Nevertheless, all natural languages allow their speakers to efficiently encode and transmit information. We show here, using quantitative methods on a large cross-linguistic corpus of 17 languages, that the coupling between language-level (information per syllable) and speaker-level (speech rate) properties results in languages encoding similar information rates (~39 bits/s) despite wide differences in each property individually: Languages are more similar in information rates than in Shannon information or speech rate. These findings highlight the intimate feedback loops between languages’ structural properties and their speakers’ neurocognition and biology under communicative pressures. Thus, language is the product of a multiscale communicative niche construction process at the intersection of biology, environment, and culture.
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- 2019
23. Automatic word count estimation from daylong child-centered recordings in various language environments using language-independent syllabification of speech
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Eric Riebling, Florian Metze, Alejandrina Cristia, Elika Bergelson, Julien Karadayi, John Bunce, Celia Renata Rosemberg, Okko Räsänen, Melanie Soderstrom, Shreyas Seshadri, Marisa Casillas, Tampere University, Computing Sciences, Jorma Skyttä's Group, Dept Signal Process and Acoust, CNRS, Carnegie Mellon University, University of Manitoba, Max Planck Institute for Psycholinguistics, Consejo Nacional de Investigaciones Científicas y Técnicas, Duke University, Aalto-yliopisto, and Aalto University
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Linguistics and Language ,Computer science ,Speech recognition ,Word count ,Ciencias de la Educación ,purl.org/becyt/ford/5.3 [https] ,02 engineering and technology ,01 natural sciences ,Language and Linguistics ,NOISE ROBUSTNESS ,CIENCIAS SOCIALES ,Software ,WORD COUNT ESTIMATION ,0103 physical sciences ,AUTOMATIC SYLLABIFICATION ,0202 electrical engineering, electronic engineering, information engineering ,Feature (machine learning) ,010301 acoustics ,Voice activity detection ,purl.org/becyt/ford/5 [https] ,Syllabification ,business.industry ,Communication ,American English ,020206 networking & telecommunications ,113 Computer and information sciences ,Language acquisition ,Computer Science Applications ,Modeling and Simulation ,Otras Ciencias de la Educación ,Computer Vision and Pattern Recognition ,Syllable ,business ,DAYLONG RECORDINGS ,LANGUAGE ACQUISITION - Abstract
Automatic word count estimation (WCE) from audio recordings can be used to quantify the amount of verbal communication in a recording environment. One key application of WCE is to measure language input heard by infants and toddlers in their natural environments, as captured by daylong recordings from microphones worn by the infants. Although WCE is nearly trivial for high-quality signals in high-resource languages, daylong recordings are substantially more challenging due to the unconstrained acoustic environments and the presence of near- and far-field speech. Moreover, many use cases of interest involve languages for which reliable ASR systems or even well-defined lexicons are not available. A good WCE system should also perform similarly for low- and high-resource languages in order to enable unbiased comparisons across different cultures and environments. Unfortunately, the current state-of-the-art solution, the LENA system, is based on proprietary software and has only been optimized for American English, limiting its applicability. In this paper, we build on existing work on WCE and present the steps we have taken towards a freely available system for WCE that can be adapted to different languages or dialects with a limited amount of orthographically transcribed speech data. Our system is based on language-independent syllabification of speech, followed by a language-dependent mapping from syllable counts (and a number of other acoustic features) to the corresponding word count estimates. We evaluate our system on samples from daylong infant recordings from six different corpora consisting of several languages and socioeconomic environments, all manually annotated with the same protocol to allow direct comparison. We compare a number of alternative techniques for the two key components in our system: speech activity detection and automatic syllabification of speech. As a result, we show that our system can reach relatively consistent WCE accuracy across multiple corpora and languages (with some limitations). In addition, the system outperforms LENA on three of the four corpora consisting of different varieties of English. We also demonstrate how an automatic neural network-based syllabifier, when trained on multiple languages, generalizes well to novel languages beyond the training data, outperforming two previously proposed unsupervised syllabifiers as a feature extractor for WCE. Fil: Räsänen, Okko. Universidad de Tampere; Finlandia Fil: Seshadri, Shreyas. Aalto University; Finlandia Fil: Karadayi, Julien. Université Paris Sciences et Lettres; Francia Fil: Riebling, Eric. University of Carnegie Mellon; Estados Unidos Fil: Bunce, John. University of Manitoba; Canadá Fil: Cristia, Alejandrina. Université Paris Sciences et Lettres; Francia Fil: Metze, Florian. University of Carnegie Mellon; Estados Unidos Fil: Casillas, Marisa. Max Planck Institute For Psycholinguistics; Países Bajos Fil: Rosemberg, Celia Renata. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Saavedra 15. Centro Interdisciplinario de Investigaciones en Psicología Matemática y Experimental Dr. Horacio J. A. Rimoldi; Argentina Fil: Bergelson, Elika. University of Duke; Estados Unidos Fil: Soderstrom, Melanie. University of Manitoba; Canadá
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- 2019
24. The effects of larynx height on vowel production are mitigated by the active control of articulators
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Dan Dediu, Scott R. Moisik, Rick Janssen, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Dynamique Du Langage (DDL), Université Lumière - Lyon 2 (UL2)-Centre National de la Recherche Scientifique (CNRS), and School of Humanities
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Larynx ,Linguistics and Language ,Speech production ,Larynx Height ,Vowel Articulation ,Computer science ,Speech recognition ,05 social sciences ,Phonetics ,050105 experimental psychology ,Language and Linguistics ,[SHS]Humanities and Social Sciences ,030507 speech-language pathology & audiology ,03 medical and health sciences ,Speech and Hearing ,medicine.anatomical_structure ,Vowel ,medicine ,0501 psychology and cognitive sciences ,0305 other medical science ,Control (linguistics) ,Set (psychology) ,Articulation (phonetics) ,Vocal tract ,Linguistics [Humanities] - Abstract
The influence of larynx position on vowel articulation is an important topic in understanding speech production, the present-day distribution of linguistic diversity and the evolution of speech and language in our lineage. We introduce here a realistic computer model of the vocal tract, constructed from actual human MRI data, which can learn, using machine learning techniques, to control the articulators in such a way as to produce speech sounds matching as closely as possible to a given set of target vowels. We systematically control the vertical position of the larynx and we quantify the differences between the target and produced vowels for each such position across multiple replications. We report that, indeed, larynx height does affect the accuracy of reproducing the target vowels and the distinctness of the produced vowel system, that there is a “sweet spot” of larynx positions that are optimal for vowel production, but that nevertheless, even extreme larynx positions do not result in a collapsed or heavily distorted vowel space that would make speech unintelligible. Together with other lines of evidence, our results support the view that the vowel space of human languages is influenced by our larynx position, but that other positions of the larynx may also be fully compatible with speech. This work was Funded by the Netherlands Organisation for Scientific Research (NWO) VIDI grant 276-70-022 to DD. During the writing of this paper, DD was supported by an European Institutes for Advanced Study (EURIAS) Fellowship (2017–2018) and an IDEXLyon Fellowship, Université de Lyon (2018–2021).
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- 2019
25. Genome sequencing for rightward hemispheric language dominance
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Clyde Francks, Marc Brysbaert, Nathalie Tzourio-Mazoyer, Bernard Mazoyer, Solveig Badillo, Simon E. Fisher, Tulya Kavaklioglu, Lise Van der Haegen, Marie Chavent, Jérôme Saracco, Amaia Carrion-Castillo, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Ghent University Hospital, [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Laboratoire de Neuroimagerie Assistée par Ordinateur (LNAO), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Institut de Mathématiques de Bordeaux (IMB), Université Bordeaux Segalen - Bordeaux 2-Université Sciences et Technologies - Bordeaux 1 (UB)-Université de Bordeaux (UB)-Institut Polytechnique de Bordeaux (Bordeaux INP)-Centre National de la Recherche Scientifique (CNRS), Quality control and dynamic reliability (CQFD), Université Bordeaux Segalen - Bordeaux 2-Université Sciences et Technologies - Bordeaux 1 (UB)-Université de Bordeaux (UB)-Institut Polytechnique de Bordeaux (Bordeaux INP)-Centre National de la Recherche Scientifique (CNRS)-Université Bordeaux Segalen - Bordeaux 2-Université Sciences et Technologies - Bordeaux 1 (UB)-Université de Bordeaux (UB)-Institut Polytechnique de Bordeaux (Bordeaux INP)-Centre National de la Recherche Scientifique (CNRS)-Inria Bordeaux - Sud-Ouest, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Ecole Nationale Supérieure de Cognitique (ENSC), Institut Polytechnique de Bordeaux, Universiteit Gent = Ghent University (UGENT), École des hautes études en sciences sociales (EHESS), Donders Institute for Brain, Cognition and Behaviour, Radboud University [Nijmegen], Groupe d'imagerie neurofonctionnelle (GIN), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Université Bordeaux Segalen - Bordeaux 2-Université Sciences et Technologies - Bordeaux 1-Université de Bordeaux (UB)-Institut Polytechnique de Bordeaux (Bordeaux INP)-Centre National de la Recherche Scientifique (CNRS), Université Bordeaux Segalen - Bordeaux 2-Université Sciences et Technologies - Bordeaux 1-Université de Bordeaux (UB)-Institut Polytechnique de Bordeaux (Bordeaux INP)-Centre National de la Recherche Scientifique (CNRS)-Université Bordeaux Segalen - Bordeaux 2-Université Sciences et Technologies - Bordeaux 1-Université de Bordeaux (UB)-Institut Polytechnique de Bordeaux (Bordeaux INP)-Centre National de la Recherche Scientifique (CNRS)-Inria Bordeaux - Sud-Ouest, Universiteit Gent = Ghent University [Belgium] (UGENT), and Radboud university [Nijmegen]
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Male ,0301 basic medicine ,Social Sciences ,LEFT-RIGHT ASYMMETRY ,Genome ,Functional Laterality ,Behavioral Neuroscience ,0302 clinical medicine ,Medicine and Health Sciences ,Brain asymmetry ,GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries) ,Dominance (genetics) ,Primary ciliary dyskinesia ,next generation sequencing ,Genetics ,whole genome sequencing ,GENE ONTOLOGY ,Neurology ,laterality ,Laterality ,functional MRI ,Female ,Original Article ,INTRINSIC CONNECTIVITY ,Adult ,Neuroinformatics ,Genotype ,HANDEDNESS ,Biology ,dominance ,Lateralization of brain function ,03 medical and health sciences ,medicine ,Humans ,hemispheric lateralization ,HEALTHY ,Polymorphism, Genetic ,language ,Genome, Human ,MUTATIONS ,[SCCO.NEUR]Cognitive science/Neuroscience ,Original Articles ,DNA ,medicine.disease ,Actin cytoskeleton ,Situs inversus ,030104 developmental biology ,brain asymmetry ,PRIMARY CILIARY DYSKINESIA ,SITUS-INVERSUS ,PATHOGENICITY ,030217 neurology & neurosurgery - Abstract
Most people have left‐hemisphere dominance for various aspects of language processing, but only roughly 1% of the adult population has atypically reversed, rightward hemispheric language dominance (RHLD). The genetic‐developmental program that underlies leftward language laterality is unknown, as are the causes of atypical variation. We performed an exploratory whole‐genome‐sequencing study, with the hypothesis that strongly penetrant, rare genetic mutations might sometimes be involved in RHLD. This was by analogy with situs inversus of the visceral organs (left‐right mirror reversal of the heart, lungs and so on), which is sometimes due to monogenic mutations. The genomes of 33 subjects with RHLD were sequenced and analyzed with reference to large population‐genetic data sets, as well as 34 subjects (14 left‐handed) with typical language laterality. The sample was powered to detect rare, highly penetrant, monogenic effects if they would be present in at least 10 of the 33 RHLD cases and no controls, but no individual genes had mutations in more than five RHLD cases while being un‐mutated in controls. A hypothesis derived from invertebrate mechanisms of left‐right axis formation led to the detection of an increased mutation load, in RHLD subjects, within genes involved with the actin cytoskeleton. The latter finding offers a first, tentative insight into molecular genetic influences on hemispheric language dominance., Study design of the genome sequencing for rightward hemispheric language dominance. Images are shown from an example subject with typical left‐hemisphere language dominance, and an example subject with atypical rightward hemispheric language dominance, as assessed by functional magnetic resonance imaging. Genomic analysis was focused on rare, protein‐altering variants within genes and candidate gene‐sets.
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- 2019
26. Five Ways in Which Computational Modeling Can Help Advance Cognitive Science
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Willem Zuidema, Raquel G. Alhama, Timothy Q. Gentner, Kevin Ellis, Timothy J. O'Donnell, Tim Sainburg, Robert M. French, Institute for Logic, Language and Computation (ILLC), Universiteit van Amsterdam (UvA), Laboratoire d'Etude de l'Apprentissage et du Développement [Dijon] (LEAD), Université de Bourgogne (UB)-Centre National de la Recherche Scientifique (CNRS), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Department of Brain and Cognitive Sciences, The Picower Institute for Learning and Memory, Neuroscience Research Center (RIKEN-MIT), Massachusetts Institute of Technology (MIT), Department of Linguistics (McGill University), McGill University = Université McGill [Montréal, Canada], Department of Psychology (University of California San Diego), University of California [San Diego] (UC San Diego), and University of California-University of California
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Linguistics and Language ,Artificial grammar learning ,Computer science ,Cognitive Neuroscience ,[SHS.PSY]Humanities and Social Sciences/Psychology ,Experimental and Cognitive Psychology ,Bayesian inference ,Article ,050105 experimental psychology ,03 medical and health sciences ,0302 clinical medicine ,Artificial Intelligence ,Humans ,0501 psychology and cognitive sciences ,Cognitive science ,Computational model ,Psycholinguistics ,Artificial neural network ,Lift (data mining) ,Model selection ,05 social sciences ,Computational modeling ,Models, Theoretical ,Artificial language learning ,Formal grammars ,Experimental research ,Bayesian modeling ,Visualization ,Human-Computer Interaction ,Cognitive Science ,Neural Networks, Computer ,Forthcoming Topic: Learning Grammatical Structures: Developmental, Cross‐species and Computational Approaches ,030217 neurology & neurosurgery ,Neural networks - Abstract
There is a rich tradition of building computational models in cognitive science, but modeling, theoretical, and experimental research are not as tightly integrated as they could be. In this paper, we show that computational techniques—even simple ones that are straightforward to use—can greatly facilitate designing, implementing, and analyzing experiments, and generally help lift research to a new level. We focus on the domain of artificial grammar learning, and we give five concrete examples in this domain for (a) formalizing and clarifying theories, (b) generating stimuli, (c) visualization, (d) model selection, and (e) exploring the hypothesis space., Zuidema et al. illustrate how empirical AGL studies can benefit from computational models and techniques. Computational models can help clarifying theories, and thus in delineating research questions, but also in facilitating experimental design, stimulus generation, and data analysis. The authors show, with a series of examples, how computational modeling can be integrated with empirical AGL approaches, and how model selection techniques can indicate the most likely model to explain experimental outcomes.
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- 2019
27. Conserved regulation of neurodevelopmental processes and behavior by FoxP in Drosophila
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Christine Quentin, Jolanda M. Scheffer-de Gooyert, Simon E. Fisher, Ilse Eidhof, Michaela Fenckova, Rosa L. Schellevis, Anna Castells-Nobau, Jamie M. Kramer, Lisa van Ninhuijs, Kiran van der Laan, Dova B Brenman-Suttner, Sheren Christine, Anne Simon, Falko Hofmann, Radoslaw K. Ejsmont, Annette Schenck, Stephan J. Sigrist, Radboud university [Nijmegen], University of Western Ontario (UWO), Freie Universität Berlin, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Max Planck Institute of Molecular Cell Biology and Genetics (MPI-CBG), Max-Planck-Gesellschaft, and Max Planck Institute for Psycholinguistics
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0301 basic medicine ,Nervous system ,Life Cycles ,Physiology ,Nervous System ,Biochemistry ,Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] ,Animals, Genetically Modified ,Language in Interaction ,0302 clinical medicine ,Larvae ,Animal Cells ,Medicine and Health Sciences ,Drosophila Proteins ,[SDV.BDD]Life Sciences [q-bio]/Development Biology ,Conserved Sequence ,Energy-Producing Organelles ,Neurons ,Multidisciplinary ,Behavior, Animal ,Drosophila Melanogaster ,Brain ,Eukaryota ,FOXP2 ,Forkhead Transcription Factors ,FOXP1 ,Animal Models ,Phenotype ,Cell biology ,Mitochondria ,Insects ,medicine.anatomical_structure ,Experimental Organism Systems ,Gene Knockdown Techniques ,Mushroom bodies ,Medicine ,Drosophila ,Drosophila melanogaster ,Cellular Types ,Cellular Structures and Organelles ,Locomotion ,Research Article ,Neuroinformatics ,Sensory Receptor Cells ,Arthropoda ,Science ,Biology ,Bioenergetics ,Real-Time Polymerase Chain Reaction ,Research and Analysis Methods ,03 medical and health sciences ,Model Organisms ,Forkhead Box ,All institutes and research themes of the Radboud University Medical Center ,Protein Domains ,Two-Hybrid System Techniques ,medicine ,Animals ,Transcription factor ,Mushroom Bodies ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,Biological Locomotion ,fungi ,Organisms ,Biology and Life Sciences ,Proteins ,Cell Biology ,Neuronal Dendrites ,biology.organism_classification ,Invertebrates ,030104 developmental biology ,Cellular Neuroscience ,Animal Studies ,Ectopic expression ,030217 neurology & neurosurgery ,Neuroscience ,Developmental Biology - Abstract
International audience; FOXP proteins form a subfamily of evolutionarily conserved transcription factors involved in the development and functioning of several tissues, including the central nervous system. In humans, mutations in FOXP1 and FOXP2 have been implicated in cognitive deficits including intellectual disability and speech disorders. Drosophila exhibits a single ortholog, called FoxP, but due to a lack of characterized mutants, our understanding of the gene remains poor. Here we show that the dimerization property required for mammalian FOXP function is conserved in Drosophila. In flies, FoxP is enriched in the adult brain, showing strong expression in ~1000 neurons of cholinergic, glutamatergic and GABAergic nature. We generate Drosophila loss-of-function mutants and UAS-FoxP transgenic lines for ectopic expression, and use them to characterize FoxP function in the nervous system. At the cellular level, we demonstrate that Drosophila FoxP is required in larvae for synaptic morphogenesis at axonal terminals of the neuromuscular junction and for dendrite development of dorsal multidendritic sensory neurons. In the developing brain, we find that FoxP plays important roles in α-lobe mushroom body formation. Finally, at a behavioral level, we show that Drosophila FoxP is important for locomotion, habituation learning and social space behavior of adult flies. Our work shows that Drosophila FoxP is important for regulating several neurodevelopmental processes and behaviors that are related to human disease or vertebrate disease model phenotypes. This suggests a high degree of functional conservation with vertebrate FOXP orthologues and established flies as a model system for understanding FOXP related pathologies.
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- 2019
28. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
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Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, McRae, Jeremy F., Clayton, Stephen, Fitzgerald, Tomas W., Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M., Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D., King, Daniel, Krishnappa, Netravathi, Mason, Laura E., Singh, Tarjinder, Tivey, Adrian R., Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A. Paul, Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J., Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Cooper, Nicola, Cox, Helen, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D’Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus, Donaldson, Alan, Donnai, Dian, Donnelly, Deirdre, Donnelly, Carina, Douglas, Angela, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Ellis, Ian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Fendick, Tina, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fry, Andrew, Fryer, Alan, Gardiner, Carol, Gaunt, Lorraine, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Goodship, Judith, Goudie, David, Gray, Emma, Green, Andrew, Greene, Philip, Greenhalgh, Lynn, Gribble, Susan, Harrison, Rachel, Harrison, Lucy, Harrison, Victoria, Hawkins, Rose, He, Liu, Hellens, Stephen, Henderson, Alex, Hewitt, Sarah, Hildyard, Lucy, Hobson, Emma, Holden, Simon, Holder, Muriel, Holder, Susan, Hollingsworth, Georgina, Homfray, Tessa, Humphreys, Mervyn, Hurst, Jane, Hutton, Ben, Ingram, Stuart, Irving, Melita, Islam, Lily, Jackson, Andrew, Jarvis, Joanna, Jenkins, Lucy, Johnson, Diana, Jones, Elizabeth, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kelsell, Rosemary, Kerr, Bronwyn, Kingston, Helen, Kini, Usha, Kinning, Esther, Kirby, Gail, Kirk, Claire, Kivuva, Emma, Kraus, Alison, Kumar, Dhavendra, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lampe, Anne, Langman, Caroline, Lees, Melissa, Lim, Derek, Longman, Cheryl, Lowther, Gordon, Lynch, Sally A., Magee, Alex, Maher, Eddy, Male, Alison, Mansour, Sahar, Marks, Karen, Martin, Katherine, Maye, Una, McCann, Emma, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, McKay, Kirsten, McKee, Shane, McMullan, Dominic J., McNerlan, Susan, McWilliam, Catherine, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma, Mohammed, Shehla, Montgomery, Tara, Moore, David, Morgan, Sian, Morton, Jenny, Mugalaasi, Hood, Murday, Victoria, Murphy, Helen, Naik, Swati, Nemeth, Andrea, Nevitt, Louise, Norman, Andrew, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Park, Soo-Mi, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Phipps, Julie, Pilz, Daniela T., Pollard, Martin, Pottinger, Caroline, Poulton, Joanna, Pratt, Norman, Prescott, Katrina, Pridham, Abigail, Procter, Annie, Purnell, Hellen, Quarrell, Oliver, Ragge, Nicola, Rahbari, Raheleh, Randall, Josh, Raymond, Lucy, Rice, Debbie, Robert, Leema, Roberts, Eileen, Roberts, Jonathan, Roberts, Paul, Roberts, Gillian, Ross, Alison, Rosser, Elisabeth, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Sarkar, Ajoy, Schweiger, Susann, Scott, Richard, Scurr, Ingrid, Selby, Ann, Seller, Anneke, Sequeira, Cheryl, Shannon, Nora, Sharif, Saba, Shaw-Smith, Charles, Shearing, Emma, Shears, Debbie, Sheridan, Eamonn, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Smith, Audrey, Smith, Kath, Smithson, Sarah, Sneddon, Linda, Splitt, Miranda, Squires, Miranda, Stewart, Fiona, Stewart, Helen, Straub, Volker, Suri, Mohnish, Sutton, Vivienne, Swaminathan, Ganesh Jawahar, Sweeney, Elizabeth, Tatton-Brown, Kate, Taylor, Cat, Taylor, Rohan, Tein, Mark, Temple, I. Karen, Thomson, Jenny, Tischkowitz, Marc, Tomkins, Susan, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Vandersteen, Anthony, Varghese, Vinod, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Wellesley, Diana, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Williams, Denise, Williams, Nicola, Wilson, Louise, Woods, Geoff, Wragg, Christopher, Wright, Michael, Yates, Laura, Yau, Michael, Nellåker, Chris, Parker, Michael, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M., Radboud University Medical Center [Nijmegen], Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Donders Institute for Brain, Cognition and Behaviour, Radboud university [Nijmegen], CHU Sainte Justine [Montréal], Boston Children's Hospital, Massachusetts General Hospital [Boston], School for Oncology and Developmental Biology [Maastricht] (GROW), Maastricht University [Maastricht]-Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], Maastricht University Medical Centre (MUMC), University of British Columbia (UBC), University of Calgary, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Filière Neuromusculaire (FILNEMUS), Virginia Commonwealth University (VCU), University Medical Center Groningen [Groningen] (UMCG), Seoul National University [Seoul] (SNU), Oxford University Hospitals NHS Trust, University of Oxford [Oxford], Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), University Medical Center [Utrecht], University Hospitals Bristol, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Helmholtz-Zentrum München (HZM), Mayo Clinic [Rochester], Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Waseda University, Université de Bourgogne (UB), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Department of Human Genetics [Nijmegen], The DDD study, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, MUMC+: DA KG Lab Centraal Lab (9), and MUMC+: DA Klinische Genetica (5)
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0301 basic medicine ,DISORDER ,INTELLECTUAL DISABILITY ,[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology ,General Physics and Astronomy ,EXOME ,Language in Interaction ,fluids and secretions ,0302 clinical medicine ,Intellectual disability ,Missense mutation ,lcsh:Science ,Exome ,reproductive and urinary physiology ,Genetics ,Multidisciplinary ,[SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Structural Biology [q-bio.BM] ,Phenotype ,FAMILY ,DEACETYLASE COMPLEX ,NURD ,medicine.symptom ,Neuroinformatics ,Science ,Biology ,DIAGNOSIS ,Article ,General Biochemistry, Genetics and Molecular Biology ,Chromatin remodeling ,03 medical and health sciences ,All institutes and research themes of the Radboud University Medical Center ,mental disorders ,medicine ,CHROMATIN REMODELING COMPLEX ,Gene ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,Macrocephaly ,Helicase ,General Chemistry ,medicine.disease ,GENE ,030104 developmental biology ,[SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,DE-NOVO MUTATIONS ,biology.protein ,lcsh:Q ,Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19] ,030217 neurology & neurosurgery - Abstract
Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children with rare speech disorders. To gain a comprehensive view of features associated with disruption of this gene, we use a genotype-driven approach, collecting and characterizing 35 individuals with de novo CHD3 mutations and overlapping phenotypes. Most mutations cluster within the ATPase/helicase domain of the encoded protein. Modeling their impact on the three-dimensional structure demonstrates disturbance of critical binding and interaction motifs. Experimental assays with six of the identified mutations show that a subset directly affects ATPase activity, and all but one yield alterations in chromatin remodeling. We implicate de novo CHD3 mutations in a syndrome characterized by intellectual disability, macrocephaly, and impaired speech and language., Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with macrocephaly and speech and language impairment.
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- 2018
29. The evolution of language families is shaped by the environment beyond neutral drift
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Gerhard Jäger, Annemarie Verkerk, Dan Dediu, Christian Bentz, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, and Dediu, Dan
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0106 biological sciences ,0301 basic medicine ,Social Psychology ,Globe ,Family tree ,Experimental and Cognitive Psychology ,Diversification (marketing strategy) ,Environment ,[SDV.BID.SPT]Life Sciences [q-bio]/Biodiversity/Systematics, Phylogenetics and taxonomy ,010603 evolutionary biology ,01 natural sciences ,03 medical and health sciences ,Behavioral Neuroscience ,Sociobiology ,[SDV.BID.SPT] Life Sciences [q-bio]/Biodiversity/Systematics, Phylogenetics and taxonomy ,medicine ,Humans ,Economic geography ,[SHS.LANGUE]Humanities and Social Sciences/Linguistics ,Phylogeny ,ComputingMilieux_MISCELLANEOUS ,Language ,Phylogenetic tree ,Mechanism (biology) ,Population size ,Linguistics ,[SHS.LANGUE] Humanities and Social Sciences/Linguistics ,Phylogeography ,030104 developmental biology ,Geography ,medicine.anatomical_structure ,Null hypothesis ,On Language - Abstract
There are more than 7,000 languages spoken in the world today1. It has been argued that the natural and social environment of languages drives this diversity2-13. However, a fundamental question is how strong are environmental pressures, and does neutral drift suffice as a mechanism to explain diversification? We estimate the phylogenetic signals of geographic dimensions, distance to water, climate and population size on more than 6,000 phylogenetic trees of 46 language families. Phylogenetic signals of environmental factors are generally stronger than expected under the null hypothesis of no relationship with the shape of family trees. Importantly, they are also-in most cases-not compatible with neutral drift models of constant-rate change across the family tree branches. Our results suggest that language diversification is driven by further adaptive and non-adaptive pressures. Language diversity cannot be understood without modelling the pressures that physical, ecological and social factors exert on language users in different environments across the globe.
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- 2018
30. Early communicative gestures and signs in French Sign Language acquisition
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Guy-Guyenet, Elise, Bogliotti, Caroline, Lacheret-Dujour, Anne, Modèles, Dynamiques, Corpus (MoDyCo), Université Paris Nanterre (UPN)-Centre National de la Recherche Scientifique (CNRS), Max Planck Institute for Psycholinguistics, and Guy-Guyenet, Elise
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Lexical developement ,Sign language acquisition ,[SHS] Humanities and Social Sciences ,[SHS.LANGUE]Humanities and Social Sciences/Linguistics ,French Sign Language (LSF) corpora ,[SHS.LANGUE] Humanities and Social Sciences/Linguistics ,Gestural development ,[SHS]Humanities and Social Sciences - Abstract
International audience; Sign-exposed children (SI-E) acquiring Sign Languages follow a developmental sequence similar to their speech-exposed (SP-E) counterparts acquiring spoken languages. They communicate through gestural means – mainly deictic gestures – before they are able to produce their first lexical units ─ words or signs (Volterra, Iverson & Castrataro, 2006). Throughout the second year, two other types of communicative gestures complement the SP-E children’s repertoires: conventional gestures (CG: codified gestures shared among a given community) and representational gestures (RG: or iconic gestures, representing a referent based on its formal aspects or the action associated with it). What is specific to the language acquisition of SI-E children is that gestural and lexical development occurs in the same visual-gestural modality. It is therefore highly challenging to determine if a production is a RG or a sign without precise criteria (Petitto, 1992; Volterra & Iverson, 1995; Hoiting & Slobin, 2007). The aim of the study is twofold: 1) to collect developmental data on LSF acquisition from birth to 3 y.o in order to describe language acquisition milestones and lexical development in LSF and 2) to consider the gesture-sign continuum by investigating the way children reorganize their gestural communication system during language development, i.e., how gestural linguistic components are integrated into the existing prelinguistic gestural repertoire. We collected longitudinal data on four children exposed to LSF from birth by their deaf parents. Parent-child dyads were videotaped at monthly intervals during 45-minute spontaneous interactions. This study presents the preliminary results of 3 children (1 deaf and 2 hearing). Spontaneous gesturing and signing were coded and analyzed in terms of frequency between 9 and 15 months. The developmental progression of communicative gestures and signs observed is in line with previous research. The different types and tokens of communicative gestures and signs will be analysed and described further.
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- 2018
31. The Evolution of Musicality: What Can Be Learned from Language Evolution Research?
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Andrea Ravignani, Bill Thompson, Piera Filippi, Institute of Language, Communication and the Brain (ILCB), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de psychologie cognitive (LPC), Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), Laboratoire Parole et Langage (LPL), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, ANR-16-CONV-0002,ILCB,ILCB: Institute of Language Communication and the Brain(2016), and Informatics and Applied Informatics
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Value (ethics) ,comparative cognition ,Neuroscience(all) ,Mini Review ,evolution of language ,[SHS.PSY]Humanities and Social Sciences/Psychology ,theory-driven modeling ,050105 experimental psychology ,lcsh:RC321-571 ,[SCCO]Cognitive science ,03 medical and health sciences ,0302 clinical medicine ,universals ,internal mechanisms ,Natural (music) ,music cognition ,0501 psychology and cognitive sciences ,Sociology ,cultural evolution ,Sociocultural evolution ,lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry ,Cultural transmission in animals ,evolution of music ,computational neurocognitive modeling ,ComputingMilieux_MISCELLANEOUS ,top-down approach ,General Commentary ,evolving brain ,Music psychology ,General Neuroscience ,05 social sciences ,Problem of universals ,integrated approach ,Epistemology ,Musicality ,Scholarship ,music evolution ,cultural transmission ,mechanistic explanation ,030217 neurology & neurosurgery ,nature and nurture ,Neuroscience - Abstract
Language and music share many commonalities, both as natural phenomena and as subjects of intellectual inquiry. Rather than exhaustively reviewing these connections, we focus on potential cross-pollination of methodological inquiries and attitudes. We highlight areas in which scholarship on the evolution of language may inform the evolution of music. We focus on the value of coupled empirical and formal methodologies, and on the futility of mysterianism, the declining view that the nature, origins and evolution of language cannot be addressed empirically. We identify key areas in which the evolution of language as a discipline has flourished historically, and suggest ways in which these advances can be integrated into the study of the evolution of music.
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- 2018
32. Developing strategies for encoding additive and contrastive relations in French and German child narratives
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Dimroth, Christine, Benazzo, Sandra, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Structures Formelles du Langage (SFL), Université Paris Lumières (UPL)-Centre National de la Recherche Scientifique (CNRS)-Université Paris 8 Vincennes-Saint-Denis (UP8), Marco García & Melanie Uth, ANR-10-FRAL-0008,Langacross_2,Structure de l'énoncé en contexte : langage et cognition au cours de l'acquisition - perspective translinguistique(2010), Benazzo, Sandra, Appel Franco-allemand en sciences humaines et sociales - Structure de l'énoncé en contexte : langage et cognition au cours de l'acquisition - perspective translinguistique - - Langacross_22010 - ANR-10-FRAL-0008 - FRAL - VALID, and Université Paris 8 Vincennes-Saint-Denis (UP8)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Lumières (UPL)
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[SHS.LANGUE]Humanities and Social Sciences/Linguistics ,[SHS.LANGUE] Humanities and Social Sciences/Linguistics ,ComputingMilieux_MISCELLANEOUS - Abstract
International audience
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- 2018
33. Inhibition Efficiency in Highly Proficient Bilinguals and Simultaneous Interpreters: Evidence from Language Switching and Stroop Tasks
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Xavier Aparicio, Frédéric Isel, Karin Heidlmayr, Cognitions Humaine et ARTificielle (CHART), Université Paris 8 Vincennes-Saint-Denis (UP8)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Nanterre (UPN)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Modèles, Dynamiques, Corpus (MoDyCo), Université Paris Nanterre (UPN)-Centre National de la Recherche Scientifique (CNRS), Centre de Linguistique Inter-langues, de Lexicologie, de Linguistique Anglaise et de Corpus (CLILLAC-ARP (EA_3967)), Université Paris Diderot - Paris 7 (UPD7), and École pratique des hautes études (EPHE)-Université Paris 8 Vincennes-Saint-Denis (UP8)-Université Paris Nanterre (UPN)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)
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Adult ,Male ,Linguistics and Language ,Decision Making ,Experimental and Cognitive Psychology ,Multilingualism ,Neuropsychological Tests ,computer.software_genre ,050105 experimental psychology ,Language and Linguistics ,Psycholinguistics ,Task (project management) ,03 medical and health sciences ,Executive Function ,Young Adult ,[SCCO]Cognitive science ,0302 clinical medicine ,Cognitive resource theory ,Reaction Time ,Humans ,0501 psychology and cognitive sciences ,Language proficiency ,Attention ,Neuroscience of multilingualism ,General Psychology ,ComputingMilieux_MISCELLANEOUS ,05 social sciences ,Cognition ,[SCCO.LING]Cognitive science/Linguistics ,Inhibition, Psychological ,[SCCO.PSYC]Cognitive science/Psychology ,Female ,Psychology ,computer ,030217 neurology & neurosurgery ,Interpreter ,Stroop effect ,Cognitive psychology - Abstract
The present behavioral study aimed to examine the impact of language control expertise on two domain-general control processes, i.e. active inhibition of competing representations and overcoming of inhibition. We compared how Simultaneous Interpreters (SI) and Highly Proficient Bilinguals—two groups assumed to differ in language control capacity—performed executive tasks involving specific inhibition processes. In Experiment 1 (language decision task), both active and overcoming of inhibition processes are involved, while in Experiment 2 (bilingual Stroop task) only interference suppression is supposed to be required. The results of Experiment 1 showed a language switching effect only for the highly proficient bilinguals, potentially because overcoming of inhibition requires more cognitive resources than in SI. Nevertheless, both groups performed similarly on the Stroop task in Experiment 2, which suggests that active inhibition may work similarly in both groups. These contrasting results suggest that overcoming of inhibition may be harder to master than active inhibition. Taken together, these data indicate that some executive control processes may be less sensitive to the degree of expertise in bilingual language control than others. Our findings lend support to psycholinguistic models of bilingualism postulating a higher-order mechanism regulating language activation.
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- 2017
34. Drift, selection, or migration? Processes affecting genetic differentiation and variation along a latitudinal gradient in an amphibian
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Maria Cortázar-Chinarro, Ella Z. Lattenkamp, Yvonne Meyer-Lucht, Emilien Luquet, Anssi Laurila, Jacob Höglund, Department of Ecology and Genetics [Uppsala] (EBC), Uppsala University, Department of Neurogenetics of Vocal Communication, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, Laboratoire d'Ecologie des Hydrosystèmes Naturels et Anthropisés (LEHNA), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-École Nationale des Travaux Publics de l'État (ENTPE), Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-École Nationale des Travaux Publics de l'État (ENTPE)-Centre National de la Recherche Scientifique (CNRS)
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Heterozygote ,Evolution ,Climate Change ,Natural selection ,Major histocompatibility complex ,Amphibians ,Evolutionsbiologi ,Rana arvalis ,QH359-425 ,Animals ,Selection, Genetic ,Microsatellites ,Alleles ,Population Density ,Evolutionary Biology ,Geography ,Outlier tests ,Histocompatibility Antigens Class II ,Genetic Variation ,Exons ,Genetics, Population ,Genetic Loci ,Animal Migration ,Genetic drift ,[SDE.BE]Environmental Sciences/Biodiversity and Ecology ,Research Article ,Microsatellite Repeats - Abstract
Background Past events like fluctuations in population size and post-glacial colonization processes may influence the relative importance of genetic drift, migration and selection when determining the present day patterns of genetic variation. We disentangle how drift, selection and migration shape neutral and adaptive genetic variation in 12 moor frog populations along a 1700 km latitudinal gradient. We studied genetic differentiation and variation at a MHC exon II locus and a set of 18 microsatellites. Results Using outlier analyses, we identified the MHC II exon 2 (corresponding to the β-2 domain) locus and one microsatellite locus (RCO8640) to be subject to diversifying selection, while five microsatellite loci showed signals of stabilizing selection among populations. STRUCTURE and DAPC analyses on the neutral microsatellites assigned populations to a northern and a southern cluster, reflecting two different post-glacial colonization routes found in previous studies. Genetic variation overall was lower in the northern cluster. The signature of selection on MHC exon II was weaker in the northern cluster, possibly as a consequence of smaller and more fragmented populations. Conclusion Our results show that historical demographic processes combined with selection and drift have led to a complex pattern of differentiation along the gradient where some loci are more divergent among populations than predicted from drift expectations due to diversifying selection, while other loci are more uniform among populations due to stabilizing selection. Importantly, both overall and MHC genetic variation are lower at northern latitudes. Due to lower evolutionary potential, the low genetic variation in northern populations may increase the risk of extinction when confronted with emerging pathogens and climate change. Electronic supplementary material The online version of this article (doi:10.1186/s12862-017-1022-z) contains supplementary material, which is available to authorized users.
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- 2017
35. Bat Biology, Genomes, and the Bat1K Project: To Generate Chromosome-Level Genomes for All Living Bat Species
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Lucy Burkitt-Gray, Liliana Davalos, Tamily Carvalho Melo dos Santos, Graham Hughes, Emma Teeling, David Ray, Alexander Graphodatsky, Germán Botto Nuñez, Ella Lattenkamp, Serena Dool, Marcus Gilbert, Zixia Huang, Luisa Rodrigues, Gerson Paulino Lopes, University College Dublin [Dublin] (UCD), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Donders Centre for Cognitive Neuroimaging, Radboud university [Nijmegen], Stony Brook University [SUNY] (SBU), State University of New York (SUNY), Texas Tech University [Lubbock] (TTU), University of Copenhagen = Københavns Universitet (KU), Natural History Museum of Denmark, Faculty of Science [Copenhagen], University of Copenhagen = Københavns Universitet (KU)-University of Copenhagen = Københavns Universitet (KU), NTNU University Museum [Trondheim], Norwegian University of Science and Technology [Trondheim] (NTNU), Norwegian University of Science and Technology (NTNU)-Norwegian University of Science and Technology (NTNU), Max Planck Institute of Molecular Cell Biology and Genetics (MPI-CBG), Universität Greifswald - University of Greifswald, Institut des Sciences de l'Evolution de Montpellier (UMR ISEM), École pratique des hautes études (EPHE), and Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université de Montpellier (UM)-Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Centre National de la Recherche Scientifique (CNRS)-Institut de recherche pour le développement [IRD] : UR226
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0301 basic medicine ,Pollination ,media_common.quotation_subject ,Endangered species ,Human echolocation ,Biology ,[SDV.BID.SPT]Life Sciences [q-bio]/Biodiversity/Systematics, Phylogenetics and taxonomy ,Genome ,Ecosystem services ,03 medical and health sciences ,[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN] ,Chiroptera ,Genetics ,Animals ,ComputingMilieux_MISCELLANEOUS ,media_common ,Genetic diversity ,General Veterinary ,Ecology ,Longevity ,High-Throughput Nucleotide Sequencing ,15. Life on land ,Adaptation, Physiological ,Biological Evolution ,030104 developmental biology ,Research Design ,Threatened species ,Animal Science and Zoology ,Biotechnology - Abstract
Bats are unique among mammals, possessing some of the rarest mammalian adaptations, including true self-powered flight, laryngeal echolocation, exceptional longevity, unique immunity, contracted genomes, and vocal learning. They provide key ecosystem services, pollinating tropical plants, dispersing seeds, and controlling insect pest populations, thus driving healthy ecosystems. They account for more than 20% of all living mammalian diversity, and their crown-group evolutionary history dates back to the Eocene. Despite their great numbers and diversity, many species are threatened and endangered. Here we announce Bat1K, an initiative to sequence the genomes of all living bat species (n∼1,300) to chromosome-level assembly. The Bat1K genome consortium unites bat biologists (>148 members as of writing), computational scientists, conservation organizations, genome technologists, and any interested individuals committed to a better understanding of the genetic and evolutionary mechanisms that underlie the unique adaptations of bats. Our aim is to catalog the unique genetic diversity present in all living bats to better understand the molecular basis of their unique adaptations; uncover their evolutionary history; link genotype with phenotype; and ultimately better understand, promote, and conserve bats. Here we review the unique adaptations of bats and highlight how chromosome-level genome assemblies can uncover the molecular basis of these traits. We present a novel sequencing and assembly strategy and review the striking societal and scientific benefits that will result from the Bat1K initiative.
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- 2017
36. Perceptual adaptation to non-native sound contrasts: Electrophysiological evidence of neuroplasticity in the phonological system related to second language learning
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Karin Heidlmayr, Emmanuel Ferragne, Frédéric Isel, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Modèles, Dynamiques, Corpus (MoDyCo), Université Paris Nanterre (UPN)-Centre National de la Recherche Scientifique (CNRS), Centre de Linguistique Inter-langues, de Lexicologie, de Linguistique Anglaise et de Corpus (CLILLAC-ARP (EA_3967)), Université Paris Diderot - Paris 7 (UPD7), Projet SOPHOCLE - IDEX Sorbonne Paris Cité, ANR-11-IDEX-0005,USPC,Université Sorbonne Paris Cité(2011), and ANR-11-IDEX-0005-02/10-LABX-0083,EFL,Empirical Foundations of Linguistics : data, methods, models(2011)
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[SCCO]Cognitive science ,[SCCO.NEUR]Cognitive science/Neuroscience ,[SCCO.PSYC]Cognitive science/Psychology ,[SCCO.LING]Cognitive science/Linguistics - Abstract
International audience; Second language (L2) learners frequently encounter difficulty in perceiving specific non-native sound contrasts (Dupoux et al., 2008), i.e. a phenomenon called phonological deafness (Troubetzkoi, 1939). However, if the neurocognitive network underlying phonological processing is plastic to some extent, extensive L2 experience should lead to adaptive processes and eventually to a certain capacity to discriminate non-native phonemic contrasts even in late L2 learners (Best & Strange, 1992; Flege et al., 1997; Iverson et al., 2012). Here, our goal was to examine the extent to which neuroplastic changes take place in the phonological system as a function of L2 experience. We designed an ERP experiment in which the capacity of listeners to discriminate second language phonemic contrasts mediated lexical access. A semantic violation paradigm was used in which the difference between semantically congruent and incongruent items was implemented by a phonemic contrast that was unique to the L2, English (e.g., /ɪ/ - /i/: ship – sheep). Nineteen young adult native speakers of French with intermediate proficiency in English participated in the ERP experiment. Participants listened to sentences that contained either a semantically congruent item (e.g., The anchor of the ship was let down) or an incongruent one (e.g., *The anchor of the sheep was let down) and were asked to perform an acceptability judgement. The ERP data revealed a fronto-central incongruency effect, i.e. a larger negativity for incongruent than congruent words between 180-220 ms after critical word onset. Importantly, this early effect was larger in more proficient L2 learners. Moreover, a centro-parietal N400 incongruency effect was found, i.e. larger negativity for incongruent than congruent words between 350-650 ms. Within this time window, the effect peaked earlier in more proficient L2 learners. The present findings indicate that L2 learners were sensitive to semantic incongruencies mediated by non-native phonemic contrasts. The proficiency-related variations of ERP effects suggest that perceptual sensitivity to non-native sounds depends on the amount and type of sustained non-native language experience. However, the capacity to acquire non-native phonology has previously been found to show considerable inter-individual variability (Pruitt et al., 2006; Golestani & Zatorre, 2009). Thus, in the future it will be of importance to delimitate facilitating and limiting factors for neuroplastic changes in the phonological system. Amongst others, investigations should identify how targeted training can improve the sensitivity to second language phonemic contrasts.
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- 2017
37. Perceptual sensitivity to non-native sounds: ERP evidence of neuroplasticity in the phonological system related to second language learning
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Heidlmayr, Karin, Ferragne, Emmanuel, Isel, Frédéric, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Modèles, Dynamiques, Corpus (MoDyCo), Université Paris Nanterre (UPN)-Centre National de la Recherche Scientifique (CNRS), Centre de Linguistique Inter-langues, de Lexicologie, de Linguistique Anglaise et de Corpus (CLILLAC-ARP (EA_3967)), Université Paris Diderot - Paris 7 (UPD7), Projet SOPHOCLE - IDEX Sorbonne Paris Cité, ANR-11-IDEX-0005,USPC,Université Sorbonne Paris Cité(2011), and ANR-11-IDEX-0005-02/10-LABX-0083,EFL,Empirical Foundations of Linguistics : data, methods, models(2011)
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[SCCO]Cognitive science ,[SCCO.NEUR]Cognitive science/Neuroscience ,[SCCO.PSYC]Cognitive science/Psychology ,[SCCO.LING]Cognitive science/Linguistics ,ComputingMilieux_MISCELLANEOUS - Abstract
International audience
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- 2017
38. « Replicating input-based studies, contextual factors, and ecological validity
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Rast, Rebekah, Dimroth, Christine, Starren, Marianne, Watorek, Marzena, Structures Formelles du Langage (SFL), Université Paris Lumières (UPL)-Centre National de la Recherche Scientifique (CNRS)-Université Paris 8 Vincennes-Saint-Denis (UP8), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Université de Muenster, Université Radboud Nijmegen, Université Paris 8 Vincennes-Saint-Denis (UP8)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Lumières (UPL), and Watorek, Marzena
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[SHS.LANGUE]Humanities and Social Sciences/Linguistics ,[SHS.LANGUE] Humanities and Social Sciences/Linguistics ,ComputingMilieux_MISCELLANEOUS - Abstract
International audience
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- 2017
39. Humans recognize emotional arousal in vocalizations across all classes of terrestrial vertebrates: Evidence for acoustic universals
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Jenna V. Congdon, Daniel L. Bowling, Piera Filippi, Onur Güntürkün, Marisa Hoeschele, Sebastian Ocklenburg, Andrius Pašukonis, Albert Newen, Bart de Boer, John Hoang, Stephan Alexander Reber, Christopher B. Sturdy, Institute of Language, Communication and the Brain (ILCB), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de psychologie cognitive (LPC), Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), Laboratoire Parole et Langage (LPL), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Artificial Intelligence Laboratory, Vrije Universiteit Brussel, Vrije Universiteit Brussel [Bruxelles] (VUB), Center for Mind, Brain and Cognitive Evolution, Ruhr-Universitaet Bochum, ANR-16-CONV-0002,ILCB,ILCB: Institute of Language Communication and the Brain(2016), and Informatics and Applied Informatics
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0106 biological sciences ,Evolution ,Emotions ,Signalling system ,[SHS.PSY]Humanities and Social Sciences/Psychology ,010603 evolutionary biology ,01 natural sciences ,Mandarin Chinese ,General Biochemistry, Genetics and Molecular Biology ,Arousal ,biology.animal ,[SDV.BA.ZV]Life Sciences [q-bio]/Animal biology/Vertebrate Zoology ,otorhinolaryngologic diseases ,Animals ,Humans ,0501 psychology and cognitive sciences ,Emotional expression ,050102 behavioral science & comparative psychology ,Language ,General Environmental Science ,Communication ,General Immunology and Microbiology ,biology ,business.industry ,05 social sciences ,Vertebrate ,Acoustics ,General Medicine ,Problem of universals ,language.human_language ,Emotional prosody ,Vertebrates ,language ,Vocalization, Animal ,General Agricultural and Biological Sciences ,business ,Emotional arousal ,Psychology - Abstract
International audience; Writing over a century ago, Darwin hypothesized that vocal expression of emotion dates back to our earliest terrestrial ancestors. If this hypothesis is true, we should expect to find cross-species acoustic universals in emotional vocalizations. Studies suggest that acoustic attributes of aroused vocalizations are shared across many mammalian species, and that humans can use these attributes to infer emotional content. But do these acoustic attributes extend to non-mammalian vertebrates? In this study, we asked human participants to judge the emotional content of vocalizations of nine vertebrate species representing three different biological classes—Amphibia, Reptilia (non-aves and aves) and Mammalia. We found that humans are able to identify higher levels of arousal in vocalizations across all species. This result was consistent across different language groups (English, German and Mandarin native speakers), suggesting that this ability is biologically rooted in humans. Our findings indicate that humans use multiple acoustic parameters to infer relative arousal in vocalizations for each species, but mainly rely on fundamental frequency and spectral centre of gravity to identify higher arousal vocalizations across species. These results suggest that fundamental mechanisms of vocal emotional expression are shared among vertebrates and could represent a homologous signalling system.
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- 2017
40. MultiPic: A standardized set of 750 drawings with norms for six European languages
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Antje S. Meyer, Davide Crepaldi, Marc Brysbaert, Christos Pliatsikas, Boris New, Jon Andoni Duñabeitia, Eva Smolka, Basque Center on Cognition Brain and Language [Gipuzkoa, Espagne] (BCBL), Milan Center for Neuroscience (NeuroMi), Università degli Studi di Milano-Bicocca [Milano] (UNIMIB), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Laboratoire de Psychologie et NeuroCognition (LPNC ), Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), School of Psychology & Clinical Language Sciences, University of Reading (UOR), University of Konstanz, and Universiteit Gent = Ghent University [Belgium] (UGENT)
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Male ,Visual perception ,Physiology ,Culture ,[SHS.PSY]Humanities and Social Sciences/Psychology ,Psycholinguistics ,German ,0302 clinical medicine ,Cluster Analysis ,psycholinguistic resources ,General Psychology ,translation equivalents ,visual complexity ,Language ,05 social sciences ,Line drawings ,Cognition ,General Medicine ,Translation equivalents ,Linguistics ,Europe ,Neuropsychology and Physiological Psychology ,Colored ,Visual Perception ,language ,Female ,Language and Communication [DI-BCB_DCC_Theme 1] ,Visual complexity ,Psychology ,Multilingual database ,Settore M-PSI/01 - Psicologia Generale ,Adult ,Picture database ,Adolescent ,British English ,Experimental and Cognitive Psychology ,Cognitive neuroscience ,050105 experimental psychology ,Young Adult ,03 medical and health sciences ,Psycholinguistic resources ,Physiology (medical) ,Humans ,0501 psychology and cognitive sciences ,Drawings ,Recognition, Psychology ,language.human_language ,drawings ,multilingual database ,Photic Stimulation ,030217 neurology & neurosurgery - Abstract
Article first published online: January 1, 2018 Numerous studies in psychology, cognitive neuroscience and psycholinguistics have used pictures of objects as stimulus materials. Currently, authors engaged in cross-linguistic work or wishing to run parallel studies at multiple sites where different languages are spoken must rely on rather small sets of black-and-white or colored line drawings. These sets are increasingly experienced as being too limited. Therefore, we constructed a new set of 750 colored pictures of concrete concepts. This set, MultiPic, constitutes a new valuable tool for cognitive scientists investigating language, visual perception, memory and/or attention in monolingual or multilingual populations. Importantly, the MultiPic databank has been normed in six different European languages (British English, Spanish, French, Dutch, Italian and German). All stimuli and norms are freely available at http://www.bcbl.eu/databases/multipic. The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This research has been partially funded by grants PSI2015-65689-P and SEV-2015-0490 from the Spanish Government, and by the AThEME project funded by the European Union (grant number 613465). This project has been also supported by a 2016 BBVA Foundation Grant for Researchers and Cultural Creators awarded to the first author.
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- 2017
41. Novel genetic loci associated with hippocampal volume
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Benjamin S. Aribisala, Marjolein M.J. van Donkelaar, Randy L. Gollub, Rachel M. Brouwer, Norman Delanty, Tomas Axelsson, Oscar L. Lopez, Thomas Espeseth, Alejandro Arias-Vasquez, Kristel R. van Eijk, Tien Yin Wong, Jeroen van der Grond, Georg Homuth, James T. Becker, Sebastian Guelfi, Anton J. M. de Craen, Bruno Vellas, Christopher R.K. Ching, Charles C. DeCarli, Janita Bralten, Lars T. Westlye, Ryota Hashimoto, Sampath Arepalli, Bertram Müller-Myhsok, Loes M. Olde Loohuis, Sudha Seshadri, Simon E. Fisher, K Hegenscheid, Konstantinos Arfanakis, Zdenka Pausova, Robert C. Green, Simone Reppermund, Katie L. McMahon, Ashley Beecham, Daan van Rooij, Marcel P. Zwiers, Karen A. Mather, Randy L. Buckner, Edith Hofer, Marcella Rietschel, Fabrice Crivello, Ronald H. Zielke, G. Bruce Pike, Thomas W. Mühleisen, Myriam Fornage, Kazutaka Ohi, Gareth E. Davies, Chantal Depondt, Gabriel Cuellar-Partida, Iryna O. Fedko, Peter R. Schofield, Steven G. Potkin, Albert Hofman, Paul M. Thompson, Wiro J. Niessen, Deborah Janowitz, Nicholas G. Martin, Li Shen, Mina Ryten, Meike W. Vernooij, Michael E. Weale, Tonya White, Dennis van 't Ent, Sudheer Giddaluru, Nanda Rommelse, Wei Wen, Sven J. van der Lee, Eco J. C. de Geus, Aaron Goldman, Joanne E. Curran, Qiang Chen, Jean Shin, Wayne C. Drevets, Thomas H. Mosley, Matthias Nauck, Massimo Pandolfo, Anders M. Dale, Paul A. Nyquist, Girma Woldehawariat, Francis J. McMahon, Najaf Amin, Emma J. Rose, Norbert Hosten, David J. Stott, Sigurdur Sigursson, Andrew J. Saykin, M. Kamran Ikram, Pieter J. Hoekstra, Neda Jahanshad, Grant W. Montgomery, Michael Weiner, Aad van der Lugt, Esther Walton, Gunter Schumann, Clyde Francks, Narelle K. Hansell, Xinmin Liu, Herve Lemaitre, Cornelia M. van Duijn, Ralph L. Sacco, Clinton B. Wright, Arvin Saremi, Clifford R. Jack, Andre G. Uitterlinden, G. Donohoe, Tomáš Paus, Michael Griswold, Peter T. Fox, Alan B. Zonderman, Lukas Pirpamer, Christiane Wolf, Aiden Corvin, Shannon L. Risacher, Ian Ford, Philippe Amouyel, Henrik Walter, Beng-Choon Ho, William T. Longstreth, M. Arfan Ikram, Hieab H.H. Adams, Colin Smith, Sungeun Kim, Simon Lovestone, Stefan Ehrlich, Benno Pütz, Markus M. Nöthen, Susana Muñoz Maniega, Ian J. Deary, Elena Shumskaya, Susan H. Blanton, Jerome I. Rotter, Neeltje E.M. van Haren, Mar Matarin, I. Kloszewska, Ganesh Chauhan, Anita L. DeStefano, Barbara Franke, Lars Nyberg, Tatiana Foroud, Tianye Jia, Manon Bernard, Unn K. Haukvik, Rebecca F. Gottesman, Srdjan Djurovic, Ching-Yu Cheng, Lachlan T. Strike, Alex P. Zijdenbos, Jouke-Jan Hottenga, Vince D. Calhoun, Yuri Milaneschi, David C. Glahn, Phil Lee, Amelia A. Assareh, Adaikalavan Ramasamy, Emma Sprooten, Debra A. Fleischman, David R. McKay, J. Raphael Gibbs, Bruce M. Psaty, Kazima B. Bulayeva, Bryan J. Traynor, Vilmundur Gudnason, Jessika E. Sussmann, Alexander Teumer, Guillén Fernández, Katharina Wittfeld, Christophe Tzourio, Dennis van der Meer, Wolfgang Hoffmann, Sebastian Mohnke, David C. Liewald, Jordan W. Smoller, Theo G.M. van Erp, Marcel Van Der Brug, Dara M. Cannon, Lenore J. Launer, D. Ames, Juan C. Troncoso, Brenda W.J.H. Penninx, Dhananjay Vaidya, Thomas D. Dyer, Marie-José van Tol, Han G. Brunner, Andrew Singleton, Lavinia Athanasiu, Adam M. Brickman, Eric Westman, P. Mecocci, Sandra Barral, Dick J. Veltman, Catharina A. Hartman, Benedicto Crespo-Facorro, Alexa S. Beiser, Vincent Chouraki, Nhat Trung Doan, Marieke Klein, Jaap Oosterlaan, Natalie A. Royle, John B.J. Kwok, Saud Alhusaini, Ingrid Melle, Roberto Toro, Ravi Duggirala, Allissa Dillman, Reinhold Schmidt, Lisa R. Yanek, Anbupalam Thalamuthu, Helena Schmidt, Derrek P. Hibar, Albert V. Smith, Jean-Luc Martinot, Thomas H. Wassink, Jennifer S. Richards, Oliver Martinez, Joshua L. Roffman, Sylvane Desrivières, Hilkka Soininen, Rene L. Olvera, Ole A. Andreassen, Diana Tordesillas-Gutiérrez, Claudia L. Satizabal, Owen Carmichael, Lianne Schmaal, Bernd Kraemer, Martine Hoogman, Daniah Trabzuni, Oliver Grimm, Andrew M. McIntosh, René S. Kahn, Nazanin Karbalai, Margaret J. Wright, Harald H.H. Göring, Martina Papmeyer, Roberto Roiz-Santiañez, Luigi Ferrucci, David A. Bennett, Kwangsik Nho, Gianpiero L. Cavalleri, Andreas Meyer-Lindenberg, Masashi Ikeda, Avram J. Holmes, Greig I. de Zubicaray, Andreas Heinz, Tatjana Rundek, Maria del C. Valdés Hernández, Dalia Kasperaviciute, Dan L. Longo, Matthew J. Huentelman, Wiepke Cahn, Beverly G. Windham, Michael A. Nalls, Philipp G. Sämann, Stella Trompet, Vidar M. Steen, Marc M. Bohlken, Christopher D. Whelan, Hilleke E. Hulshoff Pol, Susanne Erk, Dorret I. Boomsma, Dirk J. Heslenfeld, Masaki Fukunaga, D. Hoehn, Stephen M. Lawrie, Mark E. Bastin, Marco P. Boks, M. Mallar Chakravarty, M. R. Cookson, C. McDonald, Magda Tsolaki, Badri N. Vardarajan, Jason L. Stein, Jan K. Buitelaar, Erik G. Jönsson, Oliver Gruber, Robert Johnson, Jingyun Yang, Joshua C. Bis, J. Wouter Jukema, Tulio Guadalupe, Nina Romanczuk-Seiferth, Kjetil Nordbø Jørgensen, Henry Brodaty, Diane M. Becker, Anouk den Braber, Allison C. Nugent, Thomas Wolfers, John Hardy, Joanna M. Wardlaw, Michelle Luciano, Christine Macare, Dena G. Hernandez, D. Morris, John Blangero, Andrew J. Schork, Daniel R. Weinberger, Johanna Hass, Andrew Simmons, Micael Andersson, Lucija Abramovic, David S. Knopman, Mark Jenkinson, Roel A. Ophoff, Sanjay M. Sisodiya, Boris A. Gutman, Asta Håberg, Stephanie Le Hellard, Stéphanie Debette, Nicola J. Armstrong, Sarah E. Medland, Hans J. Grabe, Henry Völzke, Thomas E. Nichols, Manuel Mattheisen, Sven Cichon, Venkata S. Mattay, Ingrid Agartz, Stefan Ropele, Lorna M. Lopez, Hans van Bokhoven, Philip L. De Jager, Miguel E. Rentería, Laura Almasy, Arthur W. Toga, Michael Czisch, Florian Holsboer, Ryota Kanai, Nic J.A. van der Wee, Peter Kochunov, Perminder S. Sachdev, Andre F. Marquand, Christian Enzinger, Anderson M. Winkler, David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), University of California-University of California, Metacohorts Consortium, Institut Gilbert-Laustriat : Biomolécules, Biotechnologie, Innovation Thérapeutique, Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), INSERM Research Center for Epidemiology and Biostatistics (U897) Team Neuroepidemiology, Bordeaux, France College of Health Sciences, University of Bordeaux, Bordeaux, France, sans affiliation, QIMR Berghofer Medical Research Institute, University of Washington [Seattle], Department of Psychiatry, Donders Centre for Neuroscience, Radboud University Medical Center [Nijmegen]-Radboud university [Nijmegen]-Radboud University Medical Center [Nijmegen]-Radboud university [Nijmegen], Department of Human Genetics, Radboud University Medical Center [Nijmegen], Institute of Psychiatry, Psychology & Neuroscience, King's College London, King‘s College London, University Medical Center [Utrecht], Department of Neurology and Neurosurgery [Montreal], Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland (RCSI), Erasmus University Medical Center [Rotterdam] (Erasmus MC), Sahlgrenska University Hospital [Gothenburg], Department of Biomedical Engineering, Illinois Institute of Technology (IIT), Rush University Medical Center [Chicago], University of Edinburgh, Lagos State University (LASU), Assistance Publique - Hôpitaux de Marseille (APHM), University of Oslo (UiO), Department of medical sciences, Uppsala University-Molecular Medicine-Science for Life Laboratory, John P. Hussman Institute for Human Genomics, University of Miami Leonard M. Miller School of Medicine (UMMSM), Boston University School of Medicine (BUSM), Boston University [Boston] (BU), Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud university [Nijmegen], Neurology Department, University of California, Davis (UCDavis-Neuro), University of California [Davis] (UC Davis), Douglas Mental Health University Institute, McGill University = Université McGill [Montréal, Canada], Université Lille Nord de France (COMUE), Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement - U 1167 (RID-AGE), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Groupe d'imagerie neurofonctionnelle (GIN), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), MetaGenoPolis, Institut National de la Recherche Agronomique (INRA), Haukeland University Hospital, University of Bergen (UiB), Ames Laboratory [Ames, USA], Iowa State University (ISU)-U.S. Department of Energy [Washington] (DOE), Johns Hopkins University School of Medicine [Baltimore], Language and Genetics Department [Nijmegen], Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, International Max Planck Research School for Language Sciences (IMPRS ), Laboratory of Neuro Imaging [Los Angeles] (LONI), Department of Mathematics [UCLA], Georgia Institute of Technology [Atlanta], Medizinische Klinik, Universitätsklinikum Heidelberg, Heidelberg, Germany, Greifswald University Hospital, Beijing Normal University (BNU), Aalborg University [Denmark] (AAU), UCL Institute of Neurology and Epilepsy Society, Department of Medicine, Imperial College London, Service d'Endocrinologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Center for Translational Research in Systems Neuroscience and Psychiatry, Department of Psychiatry and Psychotherapy, University Medical Center, Goettingen 37075, Germany, Medstar Research Institute, Clinical And Experimental Epilepsy, Centre for Healthy Brain Ageing, School of Psychiatry, Faculty of Medicine, University of New South Wales, Sydney, Australia, Department of Genomics, Life and Brain Center, University of Bonn, Institute of Human Genetics, Department of Biomedicine and the Centre for Integrative Sequencing, Aarhus University [Aarhus], VU University Medical Center [Amsterdam], Indiana University School of Medicine, Indiana University System, Indiana Alzheimer Disease Center, Indiana University System-Indiana University System, Institute of Food & Health, University College Dublin, University College Dublin [Dublin] (UCD), Department of Neurology, Statistical Genetics Group, Respiratory Epidemiology and Public Health, Imperial College London-School of public health, The University of Hong Kong (HKU)-The University of Hong Kong (HKU)-MRC-HPA Centre for Environment and Health, Centro de Investigación Biomédica en Red Salud Mental [Madrid] (CIBER-SAM), Karakter Child and Adolescent Psychiatry University Centre [Nijmegen], Department of Neurology [Austria], Medical University Graz, Institut Parisien de Chimie Moléculaire (IPCM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Max Planck Institute of Psychiatry, Max-Planck-Gesellschaft, INSERM, Neuroepidemiology U708, Bordeaux, France, Department of Neurosciences [San Diego], University of California [San Diego] (UC San Diego), Department of Cognitive Sciences [San Diego], Wuhan University [China], Plymouth University, Dpt of Psychiatry [New Haven], Yale University School of Medicine, Queensland Institute of Medical Research, School of Psychology, University of Queensland, Brisbane 4072, Australia, University of Queensland [Brisbane], Centre for Advanced Imaging, University of Queensland, Brisbane 4072, Australia, Gènes, Synapses et Cognition (CNRS - UMR3571 ), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Reta Lila Weston Institute and Department of Molecular Neuroscience, UCL, Institute of Neurology [London], Department of Genetics, King Faisal Specialist Hospital and Research Centre, Depts of Radiology, Leiden University Medical Center (LUMC), University of Twente [Netherlands], Department of Psychiatry and Human Behavior [Irvine], University of California [Irvine] (UCI), RCMG Ghent, Universiteit Gent = Ghent University [Belgium] (UGENT), Centre épigénétique et destin cellulaire (EDC (UMR_7216)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Department of Psychology [Oslo], Faculty of Social Sciences [Oslo], University of Oslo (UiO)-University of Oslo (UiO), German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), National Institutes of Health [Bethesda] (NIH), Biospective [Montréal], KG Jebsen Centre for Psychosis Research, University of Oslo (UiO)-Institute of Clinical Medicine-Oslo University Hospital [Oslo], Southwest Foundation for Biomedical Research, Department of Psychiatry and National Ageing Research Institute, University of Melbourne, Université de Lille, Department of Clinical Genetics, Department of Experimental Physics, National University of Ireland Maynooth (Maynooth University), Texas Biomedical Research Institute [San Antonio, TX], The University of Texas Health Science Center at Houston (UTHealth), 849 Department of Human Genetics, Centre for Healthy Brain Ageing, University of New South Wales [Sydney] (UNSW), Dementia Collaborative Research Centre, Brain Center Rudolf Magnus, Department of Psychiatry, UMC Utrecht, Utrecht 3584 CX, The Netherlands, Department of Psychiatry [Boston], Massachusetts General Hospital [Boston], N.I. Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119333, Russia, Icahn School of Medicine at Mount Sinai [New York] (MSSM), Department of Electrical and Computer Engineering [Albuquerque] (ECE Department), The University of New Mexico [Albuquerque], The Mind Research Network, Human Genetics Branch, National Institutes of Health [Bethesda] (NIH)-National Institute of Mental Health (NIMH), Division of Molecular and Cellular Therapeutics, Northwestern Polytechnical University [Xi'an] (NPU), Institute of Neuroscience and Medicine (INM-1), Research Center Juelich, Division of Medical Genetics, University of Basel (Unibas), Cell Biology and Gene Expression Section, National Institute of Health, Bethesda, Trinity College Dublin-St. James's Hospital, Neuropsychiatric Genetics Research Group, Trinity College Dublin, Bijvoet Center of Biomolecular Research [Utrecht], Utrecht University [Utrecht], York Structural Biology Laboratory, Department of Chemistry, University of York [York, UK], Harvard Medical School [Boston] (HMS), Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA, Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston]-Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Program in Translational NeuroPsychiatric Genomics, Brigham and Women's Hospital [Boston], School of Psychology, University of Queensland, Epidémiologie et Biostatistique [Bordeaux], Université Bordeaux Segalen - Bordeaux 2-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neurology Division, Beaumont Hospital, Dublin 9, Ireland, Beaumont Hospital, Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB)-Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), Laboratory of Neurogenetics, Department of Genomics, Biological Psychology, Neuroscience Campus Amsterdam & EMGO Institute for Health and Care Research, VU University & VU Medical Center, Amsterdam 1081 BT, The Netherlands, Institut des Sciences du Mouvement Etienne Jules Marey (ISM), Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), École des hautes études en sciences sociales (EHESS), Department of Radiology, Mayo Clinic, Robertson Centre for Biostatistics, University of Glasgow, Human Genetics Center, Department of Medical and Molecular Genetics, Rensselaer Polytechnic Institute (RPI), Department of Physics, Okayama University, Okayama University, University of New Haven [Connecticut], Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital [Boston]-Harvard Medical School [Boston] (HMS), Public Health Genomics Unit, Department of Mathematics, University of Colorado, University of Colorado [Boulder], Faculty of Medicine, University of Iceland [Reykjavik], Icelandic Heart Association, Kopavogur, Iceland., University of Science, VNU-HCM, University Medical Center Groningen [Groningen] (UMCG), Neuronal Plasticity / Mouse Behaviour, Interfaculty Institute for Genetics and Functional Genomics, Universität Greifswald - University of Greifswald, Department of Medical Genetics, HMNC Brain Health, University of Oxford [Oxford], University of Florida [Gainesville] (UF), Göteborgs Universitet (GU), Department of Medicine, Clinical Pharmacology Unit, Karolinska University Hospital [Stockholm], Brain Centre Rudolf Magnus [Utrecht], School of Psychology, University of Sussex, Brighton BN1 9QH, UK, University of Sussex, Institute of Cognitive Neuroscience, University College of London [London] (UCL), Medical University of Łódź (MUL), Mayo Clinic [Rochester], University of Maryland School of Medicine, University of Maryland System-University of Maryland System-University of Maryland [Baltimore County] (UMBC), University of Maryland System, School of Biomedical Sciences, Faculty of Biological Sciences, University of Leeds, Université de Cergy Pontoise (UCP), Université Paris-Seine, Lymphocyte Cell Biology Unit, Laboratory of Genetics, Psychiatry Institute, Unité de Nutrition Humaine (UNH), Institut National de la Recherche Agronomique (INRA)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Department of Health and Human Services, Department of Life Sciences, Mathematical Sciences Institute (MSI), Australian National University (ANU), Centre for Advanced Imaging, Institute of Gerontology and Geriatrics, Università degli Studi di Perugia (UNIPG), Division of Mental Health and Addiction, Oslo University Hospital [Oslo], Institute of Clinical Medicine [Oslo], Faculty of Medicine [Oslo], Medical Faculty [Mannheim], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Genetic Epidemiology Unit, University of Mississippi Medical Center (UMMC), Translational Centre for Regenerative Medicine (TRM), Department of Cell Therapy, Universität Leipzig [Leipzig]-Universität Leipzig [Leipzig], Institute of Clinical Chemistry and Laboratory Medicine, Department of Statistics [Coventry], University of Warwick [Coventry], Delft University of Technology (TU Delft), Rheinische Friedrich-Wilhelms-Universität Bonn, Department of Health Science, Division of Health and Rehabilitation, Luleå University of Technology (LUT), Osaka University [Osaka], University Medical Center [Utrecht]-Brain Center Rudolf Magnus, University of Nottingham, UK (UON), McConnell Brain Imaging Centre (MNI), Departments of Physiology and Nutritional Sciences, University of Toronto, Toronto, Canada, Psychiatry and Human Behavior, University of California, Irvine, California 92617, USA, Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health [Mannheim], Medical Faculty [Mannheim]-Medical Faculty [Mannheim], Cedars-Sinai Medical Center, Politecnico di Milano [Milan] (POLIMI), University of Applied Sciences [Munich], Dpt of Pharmacology and Personalised Medicine [Maastricht], Maastricht University [Maastricht], Genetics of Mental Illness and Brain Function, Neuroscience Research Australia, Department of neurology, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland, Department of neurology, University of Eastern Finland-University Hospital of Kuopio-University of Eastern Finland-University Hospital of Kuopio, Centre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney 2052, Australia, National Institute of Aging, 3rd Department of Neurology, Aristotle University of Thessaloniki-General Hospital of Thessaloniki George Papanikolaou, Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Santé Publique, d'Epidémiologie et de Développement (ISPED), Université Bordeaux Segalen - Bordeaux 2, Genentech, Inc. [San Francisco], Psychiatry and Leiden Institute for Brain and Cognition, Epidémiologie et analyses en santé publique : risques, maladies chroniques et handicaps (LEASP), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Institute for Community Medicine, Berlin School of Mind and Brain [Berlin], Humboldt-Universität zu Berlin, Carver College of Medicine [Iowa City], University of Iowa [Iowa City]-University of Iowa [Iowa City], Centre for Population Health Sciences, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet [Stockholm], University of Pretoria [South Africa], University of Missouri [Columbia] (Mizzou), University of Missouri System, Department of Psychiatry and Psychotherapy, HELIOS Klinikum Stralsund Hanseatic-Greifswald University Hospital, Donders Center for Cognitive Neuroimaging, Donders Centre for Cognitive Neuroimaging, Radboud university [Nijmegen]-Radboud university [Nijmegen], University of Southern California (USC), University of California (UC)-University of California (UC), Sans affiliation, Radboud University [Nijmegen]-Radboud University Medical Center [Nijmegen]-Radboud University [Nijmegen]-Radboud University Medical Center [Nijmegen], University of Toronto, Radboud University [Nijmegen], Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Universität Bonn = University of Bonn, Department of Neurosciences [Univ California San Diego] (Neuro - UC San Diego), School of Medicine [Univ California San Diego] (UC San Diego), University of California (UC)-University of California (UC)-University of California [San Diego] (UC San Diego), Department of Cognitive Sciences [Univ California San Diego] (CogSci - UC San Diego), Yale School of Medicine [New Haven, Connecticut] (YSM), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), King Faisal Specialist Hospital and Research Centre (KFSH & RC), Universiteit Leiden-Universiteit Leiden, University of Twente, University of California [Irvine] (UC Irvine), Universiteit Gent = Ghent University (UGENT), Centre épigénétique et destin cellulaire (EDC), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Harvard Medical School [Boston] (HMS)-Massachusetts General Hospital [Boston], University of Oxford, University of Maryland [Baltimore County] (UMBC), University of Maryland System-University of Maryland System-University of Maryland School of Medicine, Università degli Studi di Perugia = University of Perugia (UNIPG), University Hospital Mannheim | Universitätsmedizin Mannheim, Universität Leipzig-Universität Leipzig, University Hospital Mannheim | Universitätsmedizin Mannheim-University Hospital Mannheim | Universitätsmedizin Mannheim, University of Eastern Finland, Universiteit Leiden, Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Humboldt University Of Berlin, Radboud University [Nijmegen]-Radboud University [Nijmegen], School of Medicine / Clinical Medicine, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Other departments, Adult Psychiatry, ARD - Amsterdam Reproduction and Development, Radboud university [Nijmegen]-Radboud University Medical Center [Nijmegen]-Radboud university [Nijmegen]-Radboud University Medical Center [Nijmegen], McGill University-McGill University, Sahlgrenska University Hospital, McGill University, Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement (Inserm U1167 - RID-AGE - Institut Pasteur), University of Bergen (UIB), Iowa State University (ISU)-U.S. Department of Energy (DOE), Beijing Normal University, Karakter Child and Adolescent Psychiatry University Center Nijmegen, Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC), Gènes, Synapses et Cognition, Ghent University [Belgium] (UGENT), National University of Ireland Maynooth (NUIM), Texas Biomedical Research Institute [San Antonio, Texas], Bijvoet Center of Biomolecular Research, Université Libre de Bruxelles [Bruxelles] (ULB)-Hôpital Erasme (Bruxelles), Okayama University [Okayama], University of Florida [Gainesville], Institut National de la Recherche Agronomique (INRA)-Université d'Auvergne - Clermont-Ferrand I (UdA)-Clermont Université, Charité - Universitätsmedizin Berlin / Charite - University Medicine Berlin, Aristotle University of Thessaloniki-G. Papanikolaou Hospital, Humboldt Universität zu Berlin, University of Missouri [Columbia], Epidemiology, Radiology & Nuclear Medicine, Medical Informatics, Internal Medicine, Neurology, Biological Psychology, APH - Mental Health, APH - Methodology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Health Behaviors & Chronic Diseases, Cognitive Psychology, IBBA, APH - Personalized Medicine, Amsterdam Neuroscience - Brain Imaging, MUMC+: DA Klinische Genetica (5), Klinische Genetica, Psychiatry, Amsterdam Neuroscience - Complex Trait Genetics, Anatomy and neurosciences, APH - Digital Health, Hal, GIN, Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland, Universidad de Cantabria, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées
- Subjects
Male ,Netherlands Twin Register (NTR) ,Genome-wide association study ,600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit ,Spatial memory ,0302 clinical medicine ,610 Medicine & health ,Child ,GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries) ,Episodic memory ,Aged, 80 and over ,Subiculum ,220 Statistical Imaging Neuroscience ,COMMON VARIANTS ,ALZHEIMERS-DISEASE ,ddc:500 ,Alzheimer's disease ,genetics [Methionine Sulfoxide Reductases] ,Science ,Locus (genetics) ,genetics [Protein-Serine-Threonine Kinases] ,Article ,General Biochemistry, Genetics and Molecular Biology ,03 medical and health sciences ,Alzheimer Disease ,ASTN2 protein, human ,Humans ,GENOME-WIDE ASSOCIATION ,METAANALYSIS ,Aged ,Glycoproteins ,Dentate gyrus ,MEMORY ,medicine.disease ,R1 ,030104 developmental biology ,nervous system ,Genetic Loci ,MSRB3 protein, human ,030217 neurology & neurosurgery ,0301 basic medicine ,General Physics and Astronomy ,genetics [Alzheimer Disease] ,Hippocampal formation ,Hippocampus ,Genome-wide association studies ,Taugasjúkdómar ,Cohort Studies ,DPP4 protein, human ,TEMPORAL-LOBE EPILEPSY ,BRAIN-REGIONS ,genetics [Dipeptidyl Peptidase 4] ,genetics [Nerve Tissue Proteins] ,Genetics ,Multidisciplinary ,Neurodegenerative diseases ,BIPOLAR DISORDER ,Organ Size ,Middle Aged ,SUBFIELDS ,Protein-Serine-Threonine Kinases ,growth & development [Hippocampus] ,Female ,genetics [Glycoproteins] ,Microtubule-Associated Proteins ,Medical Genetics ,Neuroinformatics ,Adult ,genetics [Microtubule-Associated Proteins] ,Adolescent ,SUSCEPTIBILITY LOCI ,Dipeptidyl Peptidase 4 ,genetics [Protein Serine-Threonine Kinases] ,Nerve Tissue Proteins ,Bioinformatik och systembiologi ,Protein Serine-Threonine Kinases ,Biology ,physiopathology [Alzheimer Disease] ,150 000 MR Techniques in Brain Function ,Young Adult ,MAST4 protein, human ,medicine ,Journal Article ,Erfðafræði ,Genetic Predisposition to Disease ,ddc:610 ,Medicinsk genetik ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,Bioinformatics and Systems Biology ,[SCCO.NEUR]Cognitive science/Neuroscience ,[SCCO.NEUR] Cognitive science/Neuroscience ,Rannsóknir ,General Chemistry ,Methionine Sulfoxide Reductases ,150 Psychology ,Genome-Wide Association Study - Abstract
The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (rg=-0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness., published version, peerReviewed
- Published
- 2017
42. ENIGMA and the individual: Predicting factors that affect the brain in 35 countries worldwide
- Author
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Thompson, Paul M., Dennis, Emily L., Gutman, Boris A., Hibar, Derrek P., Jahanshad, Neda, Kelly, Sinead, Stein, Jason L., Whelan, Christopher D., Andreassen, Ole A., Arias-Vasquez, Alejandro, Bearden, Carrie E., Boedhoe, Premika S., van den Heuvel, Odile L., Veltman, Dick J., Brouwer, Rachel M., de Reus, Marcel A., Pol, Hilleke E.Hulshoff, van den Heuvel, Martijn P., Buckner, Randy L., Buitelaar, Jan K., Fisher, Simon E., Francks, Clyde, Franke, Barbara, Hoogman, Martine, van Rooij, Daan, Bulayeva, Kazima B., Cannon, Dara M., McDonald, Colm, Cohen, Ronald A., Conrod, Patricia J., Dale, Anders M., Holland, Dominic, Deary, Ian J., Wardlaw, Joanna M., Desrivieres, Sylvane, Schumann, Gunter, Dima, Danai, Frangou, Sophia, Donohoe, Gary, Guadalupe, Tulio, Fouche, Jean Paul, Stein, Dan J., Ganjgahi, Habib, Garavan, Hugh, Glahn, David C., Grabe, Hans J., Hashimoto, Ryota, Hosten, Norbert, Kochunov, Peter, Kremen, William S., Lee, Phil H., Mackey, Scott, Mazoyer, Bernard, Martin, Nicholas G., Medland, Sarah E., Morey, Rajendra A., Nichols, Thomas E., Paus, Tomas, Pausova, Zdenka, Shen, Li, Sisodiya, Sanjay M., Smit, Dirk J.A., Smoller, Jordan W., Toro, Roberto, Turner, Jessica A., Schmaal, Lianne, van Erp, Theo G.M., Walter, Henrik, Wang, Yalin, Wright, Margaret J., Ye, Jieping, Anatomy and neurosciences, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Psychiatry, University of Southern California (USC), Division of Mental Health and Addiction, Oslo University Hospital [Oslo], KG Jebsen Centre for Psychosis Research, University of Oslo (UiO)-Institute of Clinical Medicine-Oslo University Hospital [Oslo], Department of Human Genetics, Radboud University Medical Center [Nijmegen], Department of Psychiatry, Donders Centre for Neuroscience, Radboud university [Nijmegen]-Radboud University Medical Center [Nijmegen]-Radboud university [Nijmegen]-Radboud University Medical Center [Nijmegen], Department of Anatomy & Neurosciences, VU University Medical Center, Amsterdam, The Netherlands, Brain Center Rudolf Magnus, Department of Psychiatry, UMC Utrecht, Utrecht 3584 CX, The Netherlands, Department of Psychiatry [Boston], Massachusetts General Hospital [Boston], Donders Center for Cognitive Neuroimaging, Donders Centre for Cognitive Neuroimaging, Radboud university [Nijmegen]-Radboud university [Nijmegen], N.I. Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119333, Russia, Human Genetics Branch, National Institutes of Health [Bethesda] (NIH)-National Institute of Mental Health (NIMH), University of Florida [Gainesville], Institute of Psychiatry, Psychology & Neuroscience, King's College London, King‘s College London, University of California [San Diego] (UC San Diego), University of California, University of Edinburgh, Department of Hematology, 'Ion Chiricuta' Cancer Institute, Trinity College Dublin-St. James's Hospital, Department of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa, Language and Genetics Department [Nijmegen], Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, Donders Institute for Brain, Cognition and Behaviour, Radboud university [Nijmegen], Icahn School of Medicine at Mount Sinai [New York] (MSSM), Shahid Beheshti Medical University, University of Vermont [Burlington], Dpt of Psychiatry [New Haven], Yale University School of Medicine, Department of Psychiatry and Psychotherapy, HELIOS Klinikum Stralsund Hanseatic-Greifswald University Hospital, International Max Planck Research School for Language Sciences (IMPRS ), Department of Mathematics [UCLA], University of California [Los Angeles] (UCLA), University of California-University of California, Laboratory of Neuro Imaging [Los Angeles] (LONI), Molecular Research Center for Children’s Mental Development, United Graduate School of Child Development, Osaka University [Osaka], David Geffen School of Medicine [Los Angeles], University Medical Center [Utrecht], Greifswald University Hospital, MetaCase [Jyväskylä], University of Maryland [Baltimore County] (UMBC), University of Maryland System-University of Maryland System-University of Maryland School of Medicine, University of Maryland System, Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Department of Psychiatry, University of Vermont, Burlington 05401, VT, USA, Groupe d'Imagerie Neurofonctionnelle (GIN - UMR 5296), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Service NEUROSPIN (NEUROSPIN), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Department of Life Sciences, Imperial College London, Queensland Institute of Medical Research, Duke University [Durham], Warwick Manufacturing Group [Coventry] (WMG), University of Warwick [Coventry], Department of Statistics [Warwick], McConnell Brain Imaging Centre (MNI), Montreal Neurological Institute and Hospital, McGill University-McGill University, Departments of Physiology and Nutritional Sciences, University of Toronto, Toronto, Canada, VU University Medical Center [Amsterdam], Göttingen Zentrum Geowissenschaften, Georg-August-Universität Göttingen, Indiana University School of Medicine, Indiana University System, Department of Clinical and Experimental Epilepsy, University College of London [London] (UCL), Shell (Netherlands), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), University of York [York, UK], Department of Psychiatry and Human Behavior [Irvine], University of California [Irvine] (UCI), Charité - Universitätsmedizin Berlin / Charite - University Medicine Berlin, Berlin School of Mind and Brain [Berlin], Humboldt Universität zu Berlin, Arizona State University [Tempe] (ASU), Queensland Brain Institute, University of Queensland, Brisbane 4072, Australia, Chinese Center for Disease Control and Prevention, Radboud University Medical Center [Nijmegen]-Radboud university [Nijmegen]-Radboud University Medical Center [Nijmegen]-Radboud university [Nijmegen], University of Florida [Gainesville] (UF), McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], Georg-August-University [Göttingen], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Humboldt-Universität zu Berlin, University of Maryland School of Medicine, University of Maryland System-University of Maryland System-University of Maryland [Baltimore County] (UMBC), Amsterdam Neuroscience - Brain Imaging, Biological Psychology, Radboud University [Nijmegen]-Radboud University Medical Center [Nijmegen]-Radboud University [Nijmegen]-Radboud University Medical Center [Nijmegen], Radboud University [Nijmegen]-Radboud University [Nijmegen], University of California (UC), Radboud University [Nijmegen], Yale School of Medicine [New Haven, Connecticut] (YSM), University of California (UC)-University of California (UC), Service NEUROSPIN (NEUROSPIN), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Georg-August-University = Georg-August-Universität Göttingen, Institut Pasteur [Paris] (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), University of California [Irvine] (UC Irvine), Humboldt University Of Berlin, and Université de Montréal. Faculté de médecine. Département de psychiatrie et d'addictologie
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0301 basic medicine ,Neuroinformatics ,Candidate gene ,endocrine system ,Cognitive Neuroscience ,Brain Structure and Function ,BF ,Genome-wide association study ,Disease ,Affect (psychology) ,Article ,150 000 MR Techniques in Brain Function ,03 medical and health sciences ,0302 clinical medicine ,SDG 17 - Partnerships for the Goals ,Neuroimaging ,cortical surface-area ,medicine ,Journal Article ,Humans ,Multicenter Studies as Topic ,alzheimers-disease ,GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries) ,Depression (differential diagnoses) ,Brain Diseases ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,white-matter ,Mental Disorders ,[SCCO.NEUR]Cognitive science/Neuroscience ,medicine.disease ,heritability analysis ,susceptibility loci ,3. Good health ,030104 developmental biology ,Neurology ,Evolutionary biology ,Schizophrenia ,22q11.2 deletion syndrome ,Research Programm of Donders Centre for Neuroscience ,genome-wide association ,chronic-schizophrenia ,genetic associations ,Psychology ,candidate genes ,Neuroscience ,030217 neurology & neurosurgery ,Genome-Wide Association Study - Abstract
Contains fulltext : 165964pub.pdf (Publisher’s version ) (Open Access) In this review, we discuss recent work by the ENIGMA Consortium (http://enigma.ini.usc.edu) – a global alliance of over 500 scientists spread across 200 institutions in 35 countries collectively analyzing brain imaging, clinical, and genetic data. Initially formed to detect genetic influences on brain measures, ENIGMA has grown to over 30 working groups studying 12 major brain diseases by pooling and comparing brain data. In some of the largest neuroimaging studies to date – of schizophrenia and major depression – ENIGMA has found replicable disease effects on the brain that are consistent worldwide, as well as factors that modulate disease effects. In partnership with other consortia including ADNI, CHARGE, IMAGEN and others11 Abbreviations: ADNI, Alzheimer's Disease Neuroimaging Initiative (http://www.adni-info.org); CHARGE, the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (http://www.chargeconsortium.com); IMAGEN, IMAging GENetics Consortium (http://www.imagen-europe.com). , ENIGMA's genomic screens – now numbering over 30,000 MRI scans – have revealed at least 8 genetic loci that affect brain volumes. Downstream of gene findings, ENIGMA has revealed how these individual variants – and genetic variants in general – may affect both the brain and risk for a range of diseases. The ENIGMA consortium is discovering factors that consistently affect brain structure and function that will serve as future predictors linking individual brain scans and genomic data. It is generating vast pools of normative data on brain measures – from tens of thousands of people – that may help detect deviations from normal development or aging in specific groups of subjects. We discuss challenges and opportunities in applying these predictors to individual subjects and new cohorts, as well as lessons we have learned in ENIGMA's efforts so far.
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- 2017
43. Novel genetic loci underlying human intracranial volume identified through genome-wide association
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G. Bruce Pike, Marcel P. Zwiers, Andreas Meyer-Lindenberg, Jeroen van der Grond, Randy L. Gollub, Karen A. Mather, Andrew J. Schork, Vidar M. Steen, Marc M. Bohlken, Nhat Trung Doan, Derek W. Morris, John B.J. Kwok, Emma J. Rose, Johanna Hass, Andrew Simmons, Tian Ge, Reinhold Schmidt, Micael Andersson, Ian J. Deary, Christopher Chen, Derrek P. Hibar, Simon E. Fisher, Lucija Abramovic, Marcella Rietschel, Edith Hofer, Simon Lovestone, Clyde Francks, Christopher R.K. Ching, Srdjan Djurovic, Lachlan T. Strike, Lorna M. Lopez, Rene L. Olvera, Owen Carmichael, M. Arfan Ikram, Andre F. Marquand, Christine Macare, W.T. Longstreth, Philippe Amouyel, Aaron L. Goldman, Wolfgang Hoffmann, Philip L. De Jager, David C. Liewald, Harald H H Göring, Aad van der Lugt, David Ames, Neeltje E.M. van Haren, Lars Nyberg, Nina Romanczuk-Seiferth, Lukas Pirpamer, Stefan Ehrlich, Alexa S. Beiser, Lianne Schmaal, Hilkka Soininen, Mark Jenkinson, Kazima B. Bulayeva, Anderson M. Winkler, Mike A. Nalls, Diana Tordesillas-Gutiérrez, Martine Hoogman, Lars T. Westlye, Loes M. Olde Loohuis, Andrew Singleton, Gabriel Cuellar-Partida, Randy L. Buckner, Dorret I. Boomsma, Dena G. Hernandez, Steven G. Potkin, Sudha Seshadri, Bertram Müller-Myhsok, D. Hoehn, Gareth E. Davies, Chantal Depondt, Henrik Walter, Michael E. Weale, Deborah Janowitz, Susanne Erk, Iryna O. Fedko, Daniel R. Weinberger, Nic J A van der Wee, Jean-Luc Martinot, Jessica A. Turner, Marieke Klein, Sandra Barral, Sebastian Mohnke, Albert Hofman, Ingrid Melle, Saud Alhusaini, Vincent Chouraki, Stephen M. Lawrie, Mark E. Bastin, Juan C. Troncoso, Jean Shin, Wiro J. Niessen, Diane M. Becker, Laura Almasy, Anders M. Dale, Benjamin S. Aribisala, Dennis van 't Ent, Marco P. Boks, M. Mallar Chakravarty, Paul M. Thompson, David Reese McKay, Michael Griswold, John Blangero, Narelle K. Hansell, Eco J. C. de Geus, Paul A. Nyquist, Susana Muñoz Maniega, Sampath Arepalli, Tatjana Rundek, Dan L. Longo, Anton J. M. de Craen, Rebekah McWhirter, Nazanin Mirza-Schreiber, Henning Tiemeier, Girma Woldehawariat, Sven Cichon, Irene Pappa, Amelia A. Assareh, Sudheer Giddaluru, Pieter J. Hoekstra, Hieab H.H. Adams, Hilleke E. Hulshoff Pol, Grant W. Montgomery, Roel A. Ophoff, Markus M. Nöthen, Sara Pudas, Sigurdur Sigurdsson, Arthur W. Toga, Tien Yin Wong, Massimo Pandolfo, Corina U. Greven, Esther Walton, Tianye Jia, David J. Stott, Gunter Schumann, Marie-José van Tol, Dalia Kasperaviciute, Thomas Wolfers, Henry Völzke, Ian Ford, Shannon L. Risacher, Jessika E. Sussmann, Nicholas G. Martin, Wei Wen, Daniah Trabzuni, Iwona Kłoszewska, Kwangsik Nho, Gianpiero L. Cavalleri, Adam M. Brickman, Sungeun Kim, Andreas Heinz, Ralph L. Sacco, Neda Jahanshad, Velandai Srikanth, Elena Shumskaya, Susan H. Blanton, Katharina Wittfeld, Badri N. Vardarajan, Joshua C. Bis, Joanne E. Curran, Helena Schmidt, Peter T. Fox, Clifford R. Jack, Jason L. Stein, Laura M. E. Blanken, Thomas Espeseth, Dick J. Veltman, Sebastian Guelfi, Margaret J. Wright, Norman Delanty, Michael Czisch, Martina Papmeyer, Oscar L. Lopez, Marjolein M. J. Van Donkelaar, Bruce M. Psaty, Jan K. Buitelaar, Sven J. van der Lee, David A. Bennett, Beng-Choon Ho, Oliver Martinez, Wiepke Cahn, Li Shen, J. Wouter Jukema, Janita Bralten, Peter Kochunov, Greig I. Zubicaray, Marcel P. van der Brug, Ching-Yu Cheng, Philipp G. Sämann, Stella Trompet, Roberto Roiz-Santiañez, David C. Glahn, Allissa Dillman, Venkata S. Mattay, Dara M. Cannon, Michael W. Weiner, Christopher D. Whelan, Alexander Teumer, Sylvane Desrivières, Ole A. Andreassen, Thomas E. Nichols, Manuel Mattheisen, Matthias Nauck, René S. Kahn, Albert V. Smith, Colin Smith, Vilmundur Gudnason, Denis A. Evans, Anouk den Braber, Katie L. McMahon, Han G. Brunner, Florian Holsboer, Yuri Milaneschi, Andrew J. Saykin, Jiemin Liao, Vince D. Calhoun, Neelum T. Aggarwal, Dennis van der Meer, Hans J. Grabe, Anita L. DeStefano, Claudia L. Satizabal, Alan B. Zonderman, Alex P. Zijdenbos, Tulio Guadalupe, Ingrid Agartz, Jordan W. Smoller, Allison C. Nugent, Alejandro Arias-Vasquez, Masashi Ikeda, Avram J. Holmes, Brenda W.J.H. Penninx, John Hardy, Herve Lemaitre, Charles DeCarli, Patrizia Mecocci, Catharina A. Hartman, Tomas Axelsson, Oliver Grimm, Irina Filippi, Wayne C. Drevets, Hans van Bokhoven, Miguel E. Rentería, Aiden Corvin, Ryota Kanai, Kristel R. van Eijk, Andrew M. McIntosh, Jouke-Jan Hottenga, Roberto Toro, Lavinia Athanasiu, Joanna M. Wardlaw, Thomas H. Mosley, Mina Ryten, Meike W. Vernooij, Michelle Luciano, Joshua L. Roffman, Rebecca F. Gottesman, Dhananjay Vaidya, Ryota Hashimoto, Mar Matarin, Adaikalavan Ramasamy, Jerome I. Rotter, Ryan L. Muetzel, Konstantinos Arfanakis, Theo G.M. van Erp, Ganesh Chauhan, Xinmin Liu, Tomáš Paus, Emma Sprooten, Christiane Wolf, David S. Knopman, Manon Bernard, Zdenka Pausova, Bryan J. Traynor, Maria C. Valdés Hernández, Robert C. Green, Russell Thomson, Ravi Duggirala, Lisa R. Yanek, Luigi Ferrucci, Bing Xu, Thomas D. Dyer, Thomas H. Wassink, Eric Westman, Jennifer S. Richards, Phil H. Lee, Benno Pütz, Mark R. Cookson, Benedicto Crespo-Facorro, Natalie A. Royle, Bernd Kraemer, Katrin Hegenscheid, Francis J. McMahon, Tatiana Foroud, M. Kamran Ikram, Myriam Fornage, Nanda Rommelse, Saima Hilal, Perminder S. Sachdev, Qiang Chen, Najaf Amin, Lenore J. Launer, Norbert Hosten, Guillén Fernández, Simone Reppermund, Ashley Beecham, Dirk J. Heslenfeld, Masaki Fukunaga, Cornelia M. van Duijn, Clinton B. Wright, Erik G. Jönsson, Sanjay M. Sisodiya, Oliver Gruber, Christophe Tzourio, André G. Uitterlinden, Robert Johnson, Jaap Oosterlaan, Bernard Mazoyer, H. Ronald Zielke, Stephanie Le Hellard, Jingyun Yang, Georg Homuth, Stéphanie Debette, Nicola J. Armstrong, Sarah E. Medland, Henry Brodaty, Beverly G Windham, Gary Donohoe, Rachel M. Brouwer, James T. Becker, Kumar B. Rajan, Daan van Rooij, Thomas W. Mühleisen, Kazutaka Ohi, Peter R. Schofield, Tonya White, Barbara Franke, Unn K. Haukvik, Debra A. Fleischman, J. Raphael Gibbs, Colm McDonald, Anbupalam Thalamuthu, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Keck School of Medicine [Los Angeles], University of Southern California (USC), Boston University School of Medicine (BUSM), Boston University [Boston] (BU), Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement - U 1167 (RID-AGE), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université de Lille-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Johns Hopkins University (JHU), QIMR Berghofer Medical Research Institute, Leiden University Medical Center (LUMC), Radboud University Medical Center [Nijmegen], Institute of Psychiatry, Psychology & Neuroscience, King's College London, King‘s College London, University of Miami Leonard M. Miller School of Medicine (UMMSM), German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Greifswald University Hospital, Department of Neurology and Neurosurgery [Montreal], Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], Royal College of Surgeons in Ireland (RCSI), Umeå University, Illinois Institute of Technology (IIT), Rush University Medical Center [Chicago], University of Edinburgh, Lagos State University (LASU), University of New South Wales [Sydney] (UNSW), Murdoch University, University of Oslo (UiO), Uppsala University, Framingham Heart Study, Boston University [Boston] (BU)-National Heart, Lung, and Blood Institute [Bethesda] (NHLBI), University of Toronto, University of Washington [Seattle], Donders Institute for Brain, Cognition and Behaviour, Radboud university [Nijmegen], Columbia University Medical Center (CUMC), Columbia University [New York], Pennington Biomedical Research Center, Louisiana State University (LSU), McGill University = Université McGill [Montréal, Canada], Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Lieber Institute for Brain Development [Baltimore] (LIBD), University of California [Los Angeles] (UCLA), University of California, Vrije Universiteit Amsterdam [Amsterdam] (VU), Technische Universität Dresden = Dresden University of Technology (TU Dresden), Massachusetts General Hospital [Boston], Neuroimagerie en psychiatrie (U1000), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Maison de Solenn [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], University of Bergen (UiB), Haukeland University Hospital, Johns Hopkins University School of Medicine [Baltimore], Universität Heidelberg [Heidelberg], University of Mississippi Medical Center (UMMC), International Max Planck Research School for Language Sciences (IMPRS ), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, Language and Genetics Department [Nijmegen], National University of Singapore (NUS), Medical University Graz, Max Planck Institute of Psychiatry, Max-Planck-Gesellschaft, Yale University [New Haven], University College of London [London] (UCL), Imperial College London, Structure et Réactivité des Systèmes Moléculaires Complexes (SRSMC), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC), Center for Translational Research in Systems Neuroscience and Psychiatry, Department of Psychiatry and Psychotherapy, University Medical Center, Goettingen 37075, Germany, Medstar Research Institute, Clinical And Experimental Epilepsy, Centre for Healthy Brain Ageing, School of Psychiatry, Faculty of Medicine, University of New South Wales, Sydney, Australia, Department of Biomedicine and the Centre for Integrative Sequencing, Aarhus University [Aarhus], Institute of Human Genetics, University of Bonn, Department of Genomics, Life and Brain Center, Groupe d'imagerie neurofonctionnelle (GIN), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Dpt of Psychiatry [New Haven], Yale University School of Medicine, Department of Psychiatry, VU University Medical Center [Amsterdam], Department of Psychology [Minneapolis], University of Minnesota [Twin Cities] (UMN), University of Minnesota System-University of Minnesota System, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indiana University System-Indiana University System, Indiana University System, Institute of Food & Health, University College Dublin, University College Dublin [Dublin] (UCD), Statistical Genetics Group, Respiratory Epidemiology and Public Health, Imperial College London-School of public health, The University of Hong Kong (HKU)-The University of Hong Kong (HKU)-MRC-HPA Centre for Environment and Health, Centro de Investigación Biomédica en Red Salud Mental [Madrid] (CIBER-SAM), Karakter Child and Adolescent Psychiatry University Centre [Nijmegen], Institut Parisien de Chimie Moléculaire (IPCM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), INSERM, Neuroepidemiology U708, Bordeaux, France, Department of Cognitive Sciences [San Diego], University of California [San Diego] (UC San Diego), University of California-University of California, Department of Neurosciences [San Diego], Centre for Advanced Imaging, University of Queensland, Brisbane 4072, Australia, School of Psychology, University of Queensland, Brisbane 4072, Australia, University of Queensland [Brisbane], Queensland Institute of Medical Research, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Department of Genetics, King Faisal Specialist Hospital and Research Centre, Reta Lila Weston Institute and Department of Molecular Neuroscience, UCL, Institute of Neurology [London], Depts of Radiology, University of Twente [Netherlands], Department of Psychiatry and Human Behavior [Irvine], University of California [Irvine] (UCI), Donders Center for Cognitive Neuroimaging, Donders Centre for Cognitive Neuroimaging, Radboud university [Nijmegen]-Radboud university [Nijmegen], Centre épigénétique et destin cellulaire (EDC (UMR_7216)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7), Department of Psychology [Oslo], Faculty of Social Sciences [Oslo], University of Oslo (UiO)-University of Oslo (UiO), Deutsche Bundesbank, National Institutes of Health [Bethesda] (NIH), General Internal Medicine, Johns Hopkins School of Medicine, Biospective [Montréal], KG Jebsen Centre for Psychosis Research, University of Oslo (UiO)-Institute of Clinical Medicine-Oslo University Hospital [Oslo], Southwest Foundation for Biomedical Research, Department of Psychiatry and National Ageing Research Institute, University of Melbourne, Department of Clinical Genetics, Department of Medical Parasitology and Mycology, School of public health, The University of Hong Kong (HKU)-The University of Hong Kong (HKU)-Tehran University of Medical Siences, Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Departments of Psychiatry, Neurology, and Psychology, University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE), The University of Texas Health Science Center at Houston (UTHealth), Texas Biomedical Research Institute [San Antonio, TX], 849 Department of Human Genetics, Dementia Collaborative Research Centre, Centre for Healthy Brain Ageing, Brain Center Rudolf Magnus, Department of Psychiatry, UMC Utrecht, Utrecht 3584 CX, The Netherlands, Université de Lausanne (UNIL), Department of Psychiatry [Boston], N.I. Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119333, Russia, Icahn School of Medicine at Mount Sinai [New York] (MSSM), The Mind Research Network, Department of Electrical and Computer Engineering [Albuquerque] (ECE Department), The University of New Mexico [Albuquerque], Human Genetics Branch, National Institutes of Health [Bethesda] (NIH)-National Institute of Mental Health (NIMH), Division of Molecular and Cellular Therapeutics, Metacohorts Consortium, Division of Medical Genetics, University of Basel (Unibas), Institute of Neuroscience and Medicine (INM-1), Research Center Juelich, Cell Biology and Gene Expression Section, National Institute of Health, Bethesda, Neuropsychiatric Genetics Research Group, Trinity College Dublin, Trinity College Dublin-St. James's Hospital, Department of Materials Science & Metallurgy, University of Cambridge [UK] (CAM), Bijvoet Center of Biomolecular Research [Utrecht], Utrecht University [Utrecht], VU University Amsterdam, Program in Translational NeuroPsychiatric Genomics, Brigham and Women's Hospital [Boston], Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA, Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston]-Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Harvard Medical School [Boston] (HMS), School of Psychology, University of Queensland, Neurology Division, Beaumont Hospital, Dublin 9, Ireland, Beaumont Hospital, Molecular and Cellular Therapeutics, Department of Neurology, Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB)-Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), Laboratory of Neurogenetics, Department of Genomics, Biological Psychology, Neuroscience Campus Amsterdam & EMGO Institute for Health and Care Research, VU University & VU Medical Center, Amsterdam 1081 BT, The Netherlands, Department of Radiology, Mayo Clinic, Department of Medical and Molecular Genetics, South Texas Veterans Health Care System, San Antonio, Texas 78229, USA, Department of Physics, Okayama University, Okayama University, National Institute of Aging, Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital [Boston]-Harvard Medical School [Boston] (HMS), Public Health Genomics Unit, Department of Psychiatry and Psychotherapy, HELIOS Klinikum Stralsund Hanseatic-Greifswald University Hospital, Department of Mathematics, University of Colorado, University of Colorado [Boulder], Icelandic Heart Association, Kopavogur, Iceland., Faculty of Medicine, University of Iceland [Reykjavik], Department of Molecular Neurosciences, Institute of Neurology, UCL, Molecular Research Center for Children’s Mental Development, United Graduate School of Child Development, Osaka University [Osaka], Department of Psychiatry, University of Iowa, University of Iowa [Iowa City], University Medical Center Groningen [Groningen] (UMCG), Neuronal Plasticity / Mouse Behaviour, Interfaculty Institute for Genetics and Functional Genomics, Universität Greifswald - University of Greifswald, Tohoku University [Sendai], Netherlands Consortium for Healthy Ageing, Leiden, The Netherlands, Stony Brook University [SUNY] (SBU), State University of New York (SUNY), Department of Medicine, Clinical Pharmacology Unit, Karolinska University Hospital [Stockholm], Centre for Allergy Research, Karolinska Institutet [Stockholm], Interuniversity Cardiology Institute Netherlands, Institute of Cognitive Neuroscience, School of Psychology, University of Sussex, Brighton BN1 9QH, UK, University of Sussex, Medical University of Łódź (MUL), Mayo Clinic [Rochester], University of Maryland School of Medicine, University of Maryland System-University of Maryland System-University of Maryland [Baltimore County] (UMBC), University of Maryland System, Department of Civil and Structural Engineering, The Hong Kong Polytechnic University [Hong Kong] (POLYU)-The Hong Kong Polytechnic University [Hong Kong] (POLYU), Université de Cergy Pontoise (UCP), Université Paris-Seine, Lymphocyte Cell Biology Unit, Laboratory of Genetics, Laboratoire de Statistique Théorique et Appliquée (LSTA), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Psychiatry Institute, Department of Health and Human Services, Department of Life Sciences, Mathematical Sciences Institute (MSI), Australian National University (ANU), Centre for Advanced Imaging, Institute of Gerontology and Geriatrics, Università degli Studi di Perugia (UNIPG), Division of Mental Health and Addiction, Oslo University Hospital [Oslo], Institute of Clinical Medicine [Oslo], Faculty of Medicine [Oslo], Medical Faculty [Mannheim], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Genetic Epidemiology Unit, Université de Toulon - UFR Lettres et Sciences Humaines (UTLN UFR LSH), Université de Toulon (UTLN), Translational Centre for Regenerative Medicine (TRM), Department of Cell Therapy, Universität Leipzig [Leipzig]-Universität Leipzig [Leipzig], Institute of Clinical Chemistry and Laboratory Medicine, Warwick Manufacturing Group [Coventry] (WMG), University of Warwick [Coventry], Department of Statistics [Warwick], Delft University of Technology (TU Delft), Rheinische Friedrich-Wilhelms-Universität Bonn, Department of Health Science, Division of Health and Rehabilitation, Luleå University of Technology (LUT), University Medical Center [Utrecht]-Brain Center Rudolf Magnus, McConnell Brain Imaging Centre (MNI), Departments of Physiology and Nutritional Sciences, University of Toronto, Toronto, Canada, Psychiatry and Human Behavior, University of California, Irvine, California 92617, USA, Group Health Research Institute, Group Health Cooperative, Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health [Mannheim], Medical Faculty [Mannheim]-Medical Faculty [Mannheim], Cedars-Sinai Medical Center, Centre for Healthy Brain Ageing [Sydney], The University of Sydney, Genetics of Mental Illness and Brain Function, Neuroscience Research Australia, Broad Institute [Cambridge], Harvard University [Cambridge]-Massachusetts Institute of Technology (MIT), Department of Medical Biochemistry and Microbiology, Department of Clinical and Experimental Epilepsy, Department of neurology, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland, Department of neurology, University of Eastern Finland-University Hospital of Kuopio-University of Eastern Finland-University Hospital of Kuopio, Stroke and Ageing Research Centre, Southern Clinical School, Department of Medicine, Monash University, Monash University [Melbourne], Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia, University of Tasmania [Hobart, Australia] (UTAS), Institute of Cardiovascular and Medical Sciences [Glasgow], University of Glasgow, Centre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney 2052, Australia, Department of Epidemiology, Laboratory of Neuro Imaging [Los Angeles] (LONI), University of York [York, UK], Epidémiologie et Biostatistique [Bordeaux], Université Bordeaux Segalen - Bordeaux 2-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Genentech, Inc. [San Francisco], Departments of Radiology and of Epidemiology [Rotterdam], Psychiatry and Leiden Institute for Brain and Cognition, Department of Neurology [Rotterdam], Institute for Community Medicine, Berlin School of Mind and Brain [Berlin], Humboldt-Universität zu Berlin, Carver College of Medicine [Iowa City], University of Iowa [Iowa City]-University of Iowa [Iowa City], Centre for Population Health Sciences, Department of Physics [Hong Kong University of Science and Technology], Hong Kong University of Science and Technology (HKUST), Department of Neurobiology, Care Sciences and Society, Research Laboratory for Archaeology & the History of Art, Singapore Eye Research Institute, Singapore National Eye Centre, School of Life Sciences, Arizona State University [Tempe] (ASU), Department of Neurology and Center for Neuroscience, University of California at Davis, Sacramento, University of California [Davis] (UC Davis), Dpt of Pharmacology and Personalised Medicine [Maastricht], Maastricht University [Maastricht], University of Missouri [Columbia] (Mizzou), University of Missouri System, Göttingen Zentrum Geowissenschaften, Georg-August-University [Göttingen], Human Genetics Center, Psychiatry, EMGO - Mental health, Amsterdam Neuroscience - Complex Trait Genetics, Anatomy and neurosciences, Klinische Genetica, MUMC+: DA Klinische Genetica (5), RS: FHML non-thematic output, RS: GROW - School for Oncology and Reproduction, RS: GROW - R4 - Reproductive and Perinatal Medicine, Genetica & Celbiologie, Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Chimie du CNRS (INC)-Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Institut de Chimie du CNRS (INC)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Vrije universiteit = Free university of Amsterdam [Amsterdam] (VU), University of Maryland [Baltimore County] (UMBC), University of Maryland System-University of Maryland System-University of Maryland School of Medicine, Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC), Universidad de Cantabria, Universiteit Leiden, Radboud University [Nijmegen], University of California (UC), Universität Heidelberg [Heidelberg] = Heidelberg University, Universität Bonn = University of Bonn, [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Yale School of Medicine [New Haven, Connecticut] (YSM), Department of Cognitive Sciences [Univ California San Diego] (CogSci - UC San Diego), University of California (UC)-University of California (UC), Department of Neurosciences [Univ California San Diego] (Neuro - UC San Diego), School of Medicine [Univ California San Diego] (UC San Diego), University of California (UC)-University of California (UC)-University of California [San Diego] (UC San Diego), Institut Pasteur [Paris] (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), King Faisal Specialist Hospital and Research Centre (KFSH & RC), Universiteit Leiden-Universiteit Leiden, University of Twente, University of California [Irvine] (UC Irvine), Radboud University [Nijmegen]-Radboud University [Nijmegen], Centre épigénétique et destin cellulaire (EDC), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Université de Lausanne = University of Lausanne (UNIL), Harvard Medical School [Boston] (HMS)-Massachusetts General Hospital [Boston], Università degli Studi di Perugia = University of Perugia (UNIPG), University Hospital Mannheim | Universitätsmedizin Mannheim, Universität Leipzig-Universität Leipzig, University Hospital Mannheim | Universitätsmedizin Mannheim-University Hospital Mannheim | Universitätsmedizin Mannheim, Harvard University-Massachusetts Institute of Technology (MIT), University of Eastern Finland, Humboldt University Of Berlin, Georg-August-University = Georg-August-Universität Göttingen, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Epidemiology, Child and Adolescent Psychiatry / Psychology, Ophthalmology, Radiology & Nuclear Medicine, Internal Medicine, Neurosciences, Obstetrics & Gynecology, Neurology, EMGO+ - Mental Health, Biological Psychology, Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement (Inserm U1167 - RID-AGE - Institut Pasteur), McGill University-McGill University, National Heart, Lung, and Blood Institute [Bethesda] (NHLBI)-Boston University [Boston] (BU), McGill University, Technische Universität Dresden (TUD), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP], University of Bergen (UIB), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), University of Minnesota [Twin Cities], Karakter Child and Adolescent Psychiatry University Center Nijmegen, Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7)-Institut Pasteur [Paris], Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Texas Biomedical Research Institute [San Antonio, Texas], Bijvoet Center of Biomolecular Research, Université Libre de Bruxelles [Bruxelles] (ULB)-Hôpital Erasme (Bruxelles), Okayama University [Okayama], Charité - Universitätsmedizin Berlin / Charite - University Medicine Berlin, Massachusetts Institute of Technology (MIT)-Harvard University [Cambridge], University of Tasmania (UTAS), Humboldt Universität zu Berlin, Department of Physics [Kowloon], University of Missouri [Columbia], Georg-August-Universität Göttingen, and the Alzheimer's Disease Neuroimaging Initiative, EPIGEN, IMAGEN, SYS
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0301 basic medicine ,Netherlands Twin Register (NTR) ,Genome-wide association study ,Disease ,methods [Genome-Wide Association Study] ,Genome-wide association studies ,Phosphatidylinositol 3-Kinases ,0302 clinical medicine ,Cognition ,PARKINSONS-DISEASE ,pathology [Brain] ,genetics [Parkinson Disease] ,610 Medicine & health ,General Neuroscience ,growth & development [Brain] ,physiology [Cognition] ,220 Statistical Imaging Neuroscience ,COMMON VARIANTS ,Brain ,Parkinson Disease ,Phenotype ,17Q21.31 MICRODELETION ,IGF-I ,genetics [Oncogene Protein v-akt] ,Oncogene Protein v-akt ,ALZHEIMERS-DISEASE ,HEAD CIRCUMFERENCE ,Brain size ,genetics [Polymorphism, Single Nucleotide] ,Medical genetics ,GROWTH ,Neuroinformatics ,medicine.medical_specialty ,Neuroscience(all) ,European Continental Ancestry Group ,genetics [Genetic Loci] ,Biology ,Genetic correlation ,Polymorphism, Single Nucleotide ,150 000 MR Techniques in Brain Function ,Article ,White People ,03 medical and health sciences ,Image processing ,SDG 3 - Good Health and Well-being ,ddc:570 ,medicine ,Journal Article ,Humans ,Genetic Predisposition to Disease ,Gene ,METAANALYSIS ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,Neurology & Neurosurgery ,Neuroscience (all) ,Height ,[SCCO.NEUR]Cognitive science/Neuroscience ,CONSORTIUM ,Development of the nervous system ,1702 Cognitive Science ,030104 developmental biology ,Genetic Loci ,Human genome ,BRAIN SIZE ,1109 Neurosciences ,genetics [Phosphatidylinositol 3-Kinases] ,Neuroscience ,030217 neurology & neurosurgery ,Genome-Wide Association Study - Abstract
Contains fulltext : 165723pub.pdf (Publisher’s version ) (Closed access) Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (rhogenetic = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, and Parkinson's disease, and were enriched near genes involved in growth pathways, including PI3K-AKT signaling. These findings identify the biological underpinnings of intracranial volume and their link to physiological and pathological traits.
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- 2016
44. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription
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Gabriela Sánchez-Andrade, Susan E. Holder, Jeremy F. McRae, Stephen J. Sawiak, Song-Choon Lee, Pelagia Deriziotis, Shelagh Joss, Tjitske Kleefstra, Julien Thevenon, Jenny Morton, Simon E. Fisher, Cristina Dias, Mathew E. Hurles, Sara Busquets Estruch, Kelly Mellul, Claire L. S. Turner, Darren W. Logan, Sarah A. Graham, Rui Santos, Ximena Ibarra-Soria, Laurence Faivre, Jane A. Hurst, Pentao Liu, DDD Study, Biologie moléculaire et cellulaire de la différenciation, Université Joseph Fourier - Grenoble 1 (UJF)-Institut Albert Bonniot-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), 849 Department of Human Genetics, Radboud University Medical Center [Nijmegen], Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, The Wellcome Trust Sanger Institute [Cambridge], and Max Planck Society University of Cambridge Wellcome Trust EMBO Health Innovation Challenge Fund HICF-1009-003 Department of Health Wellcome Trust Sanger Institute National Institute for Health Research through the Comprehensive Clinical Research Network Regional Council of Burgundy Dijon University Hospital
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0301 basic medicine ,Male ,Haploinsufficiency/genetics ,Microcephaly ,Transcription, Genetic ,Codon, Nonsense/genetics ,Haploinsufficiency ,Neurodevelopmental Disorders/genetics ,Hippocampus ,projection neurons ,neural development ,Microcephaly/genetics ,Mice ,0302 clinical medicine ,Intellectual disability ,epileptic encephalopathies ,Missense mutation ,Genetics(clinical) ,genes ,Frameshift Mutation ,Genetics (clinical) ,Genetics ,Cerebral Cortex ,axon guidance ,2p15p16.1 microdeletion syndrome ,Nuclear Proteins ,cell-differentiation ,Syndrome ,Transcription Factors/chemistry ,Phenotype ,Mutation, Missense/genetics ,Codon, Nonsense ,Neuroinformatics ,lymphoid development ,autism spectrum disorders ,Hippocampus/metabolism ,Mutation, Missense ,Nuclear Proteins/chemistry ,Biology ,Article ,Frameshift mutation ,03 medical and health sciences ,Intellectual Disability ,medicine ,Animals ,Humans ,Social Behavior ,Transcription factor ,Frameshift Mutation/genetics ,Loss function ,de-novo mutations ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,Genetic heterogeneity ,Chromatin Assembly and Disassembly/genetics ,Carrier Proteins/chemistry ,medicine.disease ,Chromatin Assembly and Disassembly ,Intellectual Disability/genetics ,Repressor Proteins ,030104 developmental biology ,Cerebral Cortex/metabolism ,Neurodevelopmental Disorders ,Carrier Proteins ,Cognition Disorders ,Transcriptome ,Cognition Disorders/genetics ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology ,030217 neurology & neurosurgery ,Transcription Factors - Abstract
Contains fulltext : 167380.pdf (Publisher’s version ) (Open Access) Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an increasing number of genes implicated in ID, but their roles in neurodevelopment remain largely unexplored. Here we report an ID syndrome caused by de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcription factor that is a putative member of the BAF swi/snf chromatin-remodeling complex. Using a comprehensive integrated approach to ID disease modeling, involving human cellular analyses coupled to mouse behavioral, neuroanatomical, and molecular phenotyping, we provide multiple lines of functional evidence for phenotypic effects. The etiological missense variants cluster in the amino-terminal region of human BCL11A, and we demonstrate that they all disrupt its localization, dimerization, and transcriptional regulatory activity, consistent with a loss of function. We show that Bcl11a haploinsufficiency in mice causes impaired cognition, abnormal social behavior, and microcephaly in accordance with the human phenotype. Furthermore, we identify shared aberrant transcriptional profiles in the cortex and hippocampus of these mouse models. Thus, our work implicates BCL11A haploinsufficiency in neurodevelopmental disorders and defines additional targets regulated by this gene, with broad relevance for our understanding of ID and related syndromes. 22 p.
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- 2016
45. Processing resyllabified words in French
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Elsa Spinelli, Anne Cutler, James M. McQueen, Laboratoire de Psychologie et NeuroCognition (LPNC), Centre National de la Recherche Scientifique (CNRS)-Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry]), Max Planck Institute for Psycholinguistics, and Max-Planck-Gesellschaft
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Linguistics and Language ,Psycholinguistics ,05 social sciences ,French ,Experimental and Cognitive Psychology ,050105 experimental psychology ,Language and Linguistics ,Linguistics ,language.human_language ,030507 speech-language pathology & audiology ,03 medical and health sciences ,Atypical development in communications and cognition ,Neuropsychology and Physiological Psychology ,Artificial Intelligence ,Spoken word recognition ,Vowel ,[SCCO.PSYC]Cognitive science/Psychology ,Word recognition ,language ,0501 psychology and cognitive sciences ,Syllable ,0305 other medical science ,Psychology ,Priming (psychology) ,ComputingMilieux_MISCELLANEOUS - Abstract
Contains fulltext : 63179.pdf (Publisher’s version ) (Closed access) In French, the final [(r)] of dernier is not pronounced in dernier train (last train), but is pronounced, in the following syllable, in a liaison environment like dernier oignon (last onion). Due to liaison, dernier oignon becomes homophonous with dernier rognon (last kidney). In four pairs of cross-modal priming experiments, French participants made visual lexical decisions to vowel- or consonant-initial targets (e.g., oignon, rognon) following both versions of spoken sentences like C'est le dernier oignon/rognon. Facilitation was found for both types of target when targets matched the speaker's intended segmentation, but was weaker when they mismatched the intended segmentation. In unambiguous sentences there was facilitation only for targets matching the speaker's intentions. The consonants in the liaison environments were shorter than the word-initial consonants (e.g., [(r)] in dernier oignon vs. rognon). Word recognition therefore appears to be influenced by subphonemic cues to the words that speakers intend.
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- 2003
46. Segueing from a Data Category Registry to a Data Concept Registry
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Wright, S. E., Menzo Windhouwer, Schuurman, I., Broeder, D., Data Archiving and Networked Services (DANS), Lowinger, Hélène, The Language Archive - DANS, Kent State University, Max Planck Institute for Psycholinguistics, and Max-Planck-Gesellschaft
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semantic refistries ,[INFO.INFO-CL] Computer Science [cs]/Computation and Language [cs.CL] ,datacategories ,communities of practise ,[INFO.INFO-CL]Computer Science [cs]/Computation and Language [cs.CL] - Abstract
The terminology Community of Practice has long standardized data categories in the framework of ISO TC 37. ISO 12620:2009 specifies the data model and procedures for a Data Category Registry (DCR), which has been implemented by the Max Planck Institute for Psycholinguistics as the ISOcat DCR. The DCR has been used by not only ISO TC 37, but also by the CLARIN research infrastructure. This paper describes how the needs of these communities have started to diverge and the process of segueing from a DCR to a Data Concept Registry in order to meet the needs of both communities. ispartof: pages:177-187 ispartof: Proccedings of the 11th international conference on Terminology and Knowledge Engineering 2014 vol:11 pages:177-187 ispartof: 11th international conference on Terminology and Knowledge Engineering location:Berlin date:19 Jun - 21 Jun 2014 status: published
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- 2014
47. Dendritic cell-based therapeutic vaccine elicits polyfunctional HIV-specific T-cell immunity associated with control of viral load
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Lévy, Yves, Thiébaut, Rodolphe, Montes, Matthieu, Lacabaratz, Christine, Sloan, Louis, King, Bryan, Pérusat, Sophie, Harrod, Carson, Cobb, Amanda, Roberts, Lee K, Surénaud, Mathieu, Boucherie, Céline, Zurawski, Sandra, Delaugerre, Constance, Richert, Laura, Chêne, Geneviève, Banchereau, Jacques, Palucka, Karolina, DARMIGNY, Sandrine, Service d'immunologie clinique [Créteil], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Epidémiologie et Biostatistique [Bordeaux], Université Bordeaux Segalen - Bordeaux 2-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Statistics In System biology and Translational Medicine (SISTM), Université Bordeaux Segalen - Bordeaux 2-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Bordeaux Segalen - Bordeaux 2-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Inria Bordeaux - Sud-Ouest, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Laboratoire génomique, bioinformatique et applications (GBA), Conservatoire National des Arts et Métiers [CNAM] (CNAM), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Baylor Institute for Immunology Research (BIIR), North Texas Infectious Diseases Consultants [Dallas], Vaccine Research Institute (VRI), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Développement de nouveaux vaccins pour le traitement de maladies virales chroniques, Institut National de la Santé et de la Recherche Médicale (INSERM), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Baylor College of Medecine, Service de microbiologie [Saint-Louis], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Fonctions et dysfonctions épithéliales - UFC (EA 4267) (FDE), Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Inria Bordeaux - Sud-Ouest, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Epidémiologie et Biostatistique [Bordeaux], Université Bordeaux Segalen - Bordeaux 2-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Bordeaux Segalen - Bordeaux 2-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
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Adult ,CD4-Positive T-Lymphocytes ,Male ,[SDV]Life Sciences [q-bio] ,HIV Infections ,CD8-Positive T-Lymphocytes ,Virus Replication ,MESH: HIV-1 ,Lipopeptides ,MESH: AIDS Vaccines ,MESH: Lipopeptides ,Humans ,AIDS Vaccines ,MESH: Cytokines ,MESH: Humans ,MESH: Dendritic Cells ,Vaccination ,MESH: Virus Replication ,MESH: CD4-Positive T-Lymphocytes ,MESH: Adult ,Dendritic Cells ,MESH: HIV Infections ,MESH: Vaccination ,Viral Load ,MESH: CD8-Positive T-Lymphocytes ,MESH: Male ,[SDV] Life Sciences [q-bio] ,[SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie ,HIV-1 ,Cytokines ,Female ,[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie ,MESH: Viral Load ,MESH: Female - Abstract
International audience; Efforts aimed at restoring robust immune responses limiting human immunodeficiency virus (HIV)-1 replication therapeutically are warranted. We report that vaccination with dendritic cells generated ex vivo and loaded with HIV lipopeptides in patients (n = 19) on antiretroviral therapy was well tolerated and immunogenic. Vaccination increased: (i) the breadth of the immune response from 1 (1-3) to 4 (2-5) peptide-pool responses/patient (p = 0.009); (ii) the frequency of functional T cells (producing at least two cytokines among IFN-γ, TNF-α, and IL-2) from 0.026 to 0.32% (p = 0.002) and from 0.26 to 0.35% (p = 0.005) for CD4(+) and CD8(+) T cells, respectively; and (iii) the breadth of cytokines secreted by PBMCs upon antigen exposure, including IL-2, IFN-γ, IL-21, IL-17, and IL-13. Fifty percent of patients experienced a maximum of viral load (VL) 1 log10 lower than the other half following antiretroviral treatment interruption. An inverse correlation was found between the maximum of VL and the frequency of polyfunctional CD4(+) T cells (p = 0.007), production of IL-2 (p = 0.006), IFN-γ (p = 0.01), IL-21 (p = 0.006), and IL-13 (p = 0.001). These results suggest an association between vaccine responses and a better control of viral replication. These findings will help in the development of strategies for a functional cure for HIV infection.
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- 2014
48. Smart Phone, Smart Science: How the Use of Smartphones Can Revolutionize Research in Cognitive Science
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Aileen McGonigal, Olivier Sasburg, Melvin J. Yap, Jonathan Grainger, Jon Andoni Duñabeitia, Stéphane Dufau, Ludovic Ferrand, David Peeters, F.-Xavier Alario, Johannes C. Ziegler, Kathy Rastle, Manuel Perea, Maria Ktori, Manuel Carreiras, David A. Balota, Carmen Moret-Tatay, Marc Brysbaert, Laboratoire de psychologie cognitive (LPC), Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), Basque Center on Cognition Brain and Language [Gipuzkoa, Espagne] (BCBL), Universidad Catolica de Valencia (UCV), Epilepsies, Lesions Cerebrales et Systemes Neuraux de la Cognition, Université de la Méditerranée - Aix-Marseille 2-Institut National de la Santé et de la Recherche Médicale (INSERM), International Max Planck Research School for Language Sciences (IMPRS ), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, Washington University in Saint Louis (WUSTL), Universiteit Gent = Ghent University [Belgium] (UGENT), Laboratoire de Psychologie Sociale et Cognitive (LAPSCO), Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), Universitat de València (UV), University of London [London], Aix Marseille Université (AMU), National University of Singapore (NUS), European Project: 230313,EC:FP7:ERC,ERC-2008-AdG,O-CODE(2009), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Universiteit Gent = Ghent University (UGENT), Ghent University [Belgium] (UGENT), Laboratoire de Psychologie Sociale et Cognitive - Clermont Auvergne (LAPSCO), Université Clermont Auvergne (UCA)-Centre National de la Recherche Scientifique (CNRS), Service de Neurophysiologie Clinique, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Laboratoire de psychologie sociale et de psychologie cognitive (LAPSCO), Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-Centre National de la Recherche Scientifique (CNRS), Universidad Catolica de Valencia, Washington University in St Louis, and Centre National de la Recherche Scientifique (CNRS)-Université Blaise Pascal - Clermont-Ferrand 2 (UBP)
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Cognitive science ,Social and Behavioral Sciences ,Psycholinguistics ,[SCCO]Cognitive science ,Cognition ,Engineering ,0302 clinical medicine ,Software ,Software Design ,Psychology ,Medicine ,Attention ,ComputingMilieux_MISCELLANEOUS ,Language ,Faculty of Science\Psychology ,LEXICAL DECISION TASK ,Multidisciplinary ,05 social sciences ,Experimental psychology ,Software Engineering ,DIFFUSION-MODEL ACCOUNT ,Experimental economics ,Test (assessment) ,Semantics ,Research facilities ,Mental Health ,Computers, Handheld ,[SCCO.PSYC]Cognitive science/Psychology ,Information Technology ,Research Article ,Science ,Cognitive Neuroscience ,Cell phones ,050105 experimental psychology ,Databases ,03 medical and health sciences ,Memory ,Humans ,0501 psychology and cognitive sciences ,Chemistry (relationship) ,Biology ,Behavior ,business.industry ,Research ,Cognitive Psychology ,Biology and Life Sciences ,Reproducibility of Results ,Computer Science ,Attention (Behavior) ,business ,Cell Phone ,030217 neurology & neurosurgery ,Neuroscience - Abstract
WOS:000295936900019; International audience; Investigating human cognitive faculties such as language, attention, and memory most often relies on testing small and homogeneous groups of volunteers coming to research facilities where they are asked to participate in behavioral experiments. We show that this limitation and sampling bias can be overcome by using smartphone technology to collect data in cognitive science experiments from thousands of subjects from all over the world. This mass coordinated use of smartphones creates a novel and powerful scientific "instrument" that yields the data necessary to test universal theories of cognition. This increase in power represents a potential revolution in cognitive science.
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- 2011
49. Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain
- Author
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Peter L. Oliver, Simon E. Fisher, Elizabeth Spiteri, Natasha Sahgal, Dilair Baban, Rathi Puliyadi, Ernesto Lowy, Daniel H. Geschwind, Matthias Groszer, Jean-Baptiste Cazier, Jiannis Ragoussis, Joses Ho, Kay E. Davies, Cedric Mombereau, Ariel Brewer, Helen Lockstone, Sonja C. Vernes, Jérôme Nicod, Jennifer M. Taylor, Akey, Joshua M, The Wellcome Trust Centre for Human Genetics [Oxford], University of Oxford [Oxford], Medical Research Council Functional Genetics Unit, Program in Neurogenetics, University of California [Los Angeles] (UCLA), University of California-University of California, Institut du Fer à Moulin, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Human Genetics, UCLA, University of California-University of California-Semel Institute, Language and Genetics Department, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, This work was supported by the Wellcome Trust (grant numbers 075491 and 080971), the Royal Society (fellowship to SEF), Autism Speaks, the Simons Foundation Autism Research Initiative (SFARI, grant number 137593 to SEF), and the Max Planck Society. SCV was supported by the Christopher Welch Biological Sciences Scholarship and the Wellcome Trust V.I.P programme. JN was supported by a Marie Curie Intra-European Fellowship. HEL, NS, JBC, DB and JR were supported by the Wellcome Trust Core Grant Award (grant number 075491/Z/04). MG and CM are supported by the Ecole des Neurosciences de Paris Ile-de-France (ENP) and the Inserm AVENIR programme. This research was supported in part by National Institutes of Health (NIH) grant 5R21MH075028. ES was supported by NIH grant T32GM008243., Autard, Delphine, University of Oxford, University of California (UC)-University of California (UC), and University of California (UC)-University of California (UC)-Semel Institute
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Cancer Research ,Messenger ,Gene regulatory network ,Gene Expression ,[SDV.GEN] Life Sciences [q-bio]/Genetics ,Bioinformatics ,Inbred C57BL ,MESH: Corpus Striatum ,Mice ,0302 clinical medicine ,Models ,MESH: Gene Expression Regulation, Developmental ,2.1 Biological and endogenous factors ,MESH: Animals ,Developmental ,Gene Regulatory Networks ,Aetiology ,Neurolinguistics ,Genetics (clinical) ,MESH: Gene Regulatory Networks ,Oligonucleotide Array Sequence Analysis ,Regulation of gene expression ,MESH: Chromatin Immunoprecipitation ,0303 health sciences ,FOXP2 Gene ,Tumor ,Rehabilitation ,Gene Expression Regulation, Developmental ,Brain ,FOXP2 ,Forkhead Transcription Factors ,Genomics ,MESH: Repressor Proteins ,Neurological ,Mental health ,Functional genomics ,Research Article ,Biotechnology ,Chromatin Immunoprecipitation ,MESH: Mutation ,MESH: Cell Line, Tumor ,Neurite ,lcsh:QH426-470 ,1.1 Normal biological development and functioning ,Primary Cell Culture ,Biology ,Models, Biological ,Cell Line ,Molecular Genetics ,MESH: Primary Cell Culture ,03 medical and health sciences ,MESH: Brain ,MESH: Gene Expression Profiling ,Developmental Neuroscience ,MESH: Mice, Inbred C57BL ,MESH: Forkhead Transcription Factors ,Underpinning research ,Cell Line, Tumor ,Neurites ,Genetics ,Animals ,RNA, Messenger ,Gene Networks ,Molecular Biology ,MESH: Mice ,Ecology, Evolution, Behavior and Systematics ,030304 developmental biology ,MESH: RNA, Messenger ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,Gene Expression Profiling ,Human Genome ,MESH: Models, Biological ,Neurosciences ,Biological ,MESH: Neurites ,Corpus Striatum ,Mice, Inbred C57BL ,Gene expression profiling ,Repressor Proteins ,lcsh:Genetics ,Gene Expression Regulation ,Cellular Neuroscience ,Genetics of Disease ,Synaptic plasticity ,MESH: Oligonucleotide Array Sequence Analysis ,Mutation ,RNA ,Gene Function ,Molecular Neuroscience ,Animal Genetics ,Neuroscience ,030217 neurology & neurosurgery ,Developmental Biology - Abstract
Forkhead-box protein P2 is a transcription factor that has been associated with intriguing aspects of cognitive function in humans, non-human mammals, and song-learning birds. Heterozygous mutations of the human FOXP2 gene cause a monogenic speech and language disorder. Reduced functional dosage of the mouse version (Foxp2) causes deficient cortico-striatal synaptic plasticity and impairs motor-skill learning. Moreover, the songbird orthologue appears critically important for vocal learning. Across diverse vertebrate species, this well-conserved transcription factor is highly expressed in the developing and adult central nervous system. Very little is known about the mechanisms regulated by Foxp2 during brain development. We used an integrated functional genomics strategy to robustly define Foxp2-dependent pathways, both direct and indirect targets, in the embryonic brain. Specifically, we performed genome-wide in vivo ChIP–chip screens for Foxp2-binding and thereby identified a set of 264 high-confidence neural targets under strict, empirically derived significance thresholds. The findings, coupled to expression profiling and in situ hybridization of brain tissue from wild-type and mutant mouse embryos, strongly highlighted gene networks linked to neurite development. We followed up our genomics data with functional experiments, showing that Foxp2 impacts on neurite outgrowth in primary neurons and in neuronal cell models. Our data indicate that Foxp2 modulates neuronal network formation, by directly and indirectly regulating mRNAs involved in the development and plasticity of neuronal connections., Author Summary Foxp2 codes for an intriguing regulatory protein that provides a window into unusual aspects of brain function in multiple species. For example, the gene is implicated in speech and language disorders in humans, song learning in songbirds, and learning of rapid movement sequences in mice. Foxp2 acts by tuning the expression levels of other genes (its downstream targets). In this study we used genome-wide techniques to comprehensively identify the major targets of Foxp2 in the embryonic brain, in order to understand its roles in fundamental biological pathways during neurodevelopment, which we followed up through functional analyses of neurons. Most notably, we found that Foxp2 directly and indirectly regulates networks of genes that alter the length and branching of neuronal projections, an important route for modulating the wiring of neural connections in the developing brain. Overall, our findings shed light on how Foxp2 directs particular features of nervous system development, helping us to build bridges between genes and complex aspects of brain function.
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- 2011
50. The impairment of emotion recognition in Huntington's disease extends to positive emotions.: recognition of positive emotions in HD
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Robotham, Laura, Sauter, Disa, Bachoud-Lévi, Anne-Catherine, Trinkler, Iris, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Département d'Etudes Cognitives - ENS Paris (DEC), École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Centre de référence maladie de Huntington, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), École normale supérieure - Paris (ENS-PSL), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-CHU Trousseau [APHP]
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Emotion ,Vocalizations ,Affect ,mental disorders ,Huntington's disease ,[SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology - Abstract
International audience; Patients with Huntington's Disease (HD) are impaired in the recognition of emotional signals. However, the nature and extent of the impairment is controversial: it has variously been argued to disproportionately affect disgust (e.g., Sprengelmeyer et al., 1996), to be general for negative emotions (Snowden et al., 2008), or to be a consequence of item difficulty (Milders et al., 2003). Yet no study to date has included more than one positive stimulus category in emotion recognition tasks, and most studies have focused on the recognition of emotions from facial stimuli. In this study, we test the hypothesis that patients with HD may be impaired in their recognition of positive as well as negative emotional signals, by examining the recognition of a range of positive emotions from vocal cues. We present a study of 14 Huntington's patients and 15 controls performing a forced-choice task with a previously validated set of negative and positive non-verbal emotional vocalizations (Sauter and Scott, 2007). Although HD patients performed above chance for each emotion, they were found to be impaired in both positive and negative emotions, including pleasure, fear and anger. These findings complement previous work by demonstrating that impairments in emotion recognition in HD extend to positive and negative emotions, which may imply a general deficit.
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- 2011
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