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3. Alpha7 nicotinic acetylcholine receptor signaling modulates ovine fetal brain astrocytes transcriptome in response to endotoxin

Author

Cao, M., MacDonald, J. W., Liu, H. L., Weaver, M., Cortes, M., Durosier, L. D., Burns, P., Fecteau, G., Desrochers, A., Schulkin, J., Antonelli, M. C., Bernier, R. A., Dorschner, M., Bammler, T. K., and Frasch, M. G.

Subjects
Quantitative Biology - Genomics, Quantitative Biology - Cell Behavior, Quantitative Biology - Molecular Networks
Abstract

Neuroinflammation in utero may result in lifelong neurological disabilities. Astrocytes play a pivotal role, but the mechanisms are poorly understood. No early postnatal treatment strategies exist to enhance neuroprotective potential of astrocytes. We hypothesized that agonism on alpha7 nicotinic acetylcholine receptor (alpha7nAChR) in fetal astrocytes will augment their neuroprotective transcriptome profile, while the antagonistic stimulation of alpha7nAChR will achieve the opposite. Using an in vivo - in vitro model of developmental programming of neuroinflammation induced by lipopolysaccharide (LPS), we validated this hypothesis in primary fetal sheep astrocytes cultures re-exposed to LPS in presence of a selective alpha7nAChR agonist or antagonist. Our RNAseq findings show that a pro-inflammatory astrocyte transcriptome phenotype acquired in vitro by LPS stimulation is reversed with alpha7nAChR agonistic stimulation. Conversely, antagonistic alpha7nAChR stimulation potentiates the pro-inflammatory astrocytic transcriptome phenotype. Furthermore, we conduct a secondary transcriptome analysis against the identical alpha7nAChR experiments in fetal sheep primary microglia cultures and discuss the implications for neurodevelopment., Comment: See also the accompanying repository on GitHub: https://github.com/martinfrasch/astrocytes_RNAseq

Published
2018
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15. Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

Author

Bramswig, Nuria C., Lüdecke, H.-J., Pettersson, M., Albrecht, B., Bernier, R. A., Cremer, K., Eichler, E. E., Falkenstein, D., Gerdts, J., Jansen, S., Kuechler, A., Kvarnung, M., Lindstrand, A., Nilsson, D., Nordgren, A., Pfundt, R., Spruijt, L., Surowy, H. M., de Vries, B. B. A., Wieland, T., Engels, H., Strom, T. M., Kleefstra, T., and Wieczorek, D.

Published
2017
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19. EEG Mu Rhythm and Imitation Impairments in Individuals with Autism Spectrum Disorder

Author

Bernier, R., Dawson, G., and Webb, S.

Abstract

Imitation ability has consistently been shown to be impaired in individuals with autism. A dysfunctional execution/observation matching system has been proposed to account for this impairment. The EEG mu rhythm is believed to reflect an underlying execution/observation matching system. This study investigated evidence of differential mu rhythm attenuation during the observation, execution, and imitation of movements and examined its relation to behaviorally assessed imitation abilities. Fourteen high-functioning adults with autism spectrum disorder (ASD) and 15 IQ- and age-matched typical adults participated. On the behavioral imitation task, adults with ASD demonstrated significantly poorer performance compared to typical adults in all domains of imitation ability. On the EEG task, both groups demonstrated significant attenuation of the mu rhythm when executing an action. However, when observing movement, the individuals with ASD showed significantly reduced attenuation of the mu wave. Behaviorally assessed imitation skills were correlated with degree of mu wave attenuation during observation of movement. These findings suggest that there is execution/observation matching system dysfunction in individuals with autism and that this matching system is related to degree of impairment in imitation abilities.

Published
2007
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20. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

Author

Dingemans, A.J.M., Truijen, Kim M.G., Ven, Sam van de, Bernier, R., Bongers, E.M.H.F., Bouman, Arjan, Kleefstra, T., Vissers, L.E.L.M., Vries, B.B.A. de, Dingemans, A.J.M., Truijen, Kim M.G., Ven, Sam van de, Bernier, R., Bongers, E.M.H.F., Bouman, Arjan, Kleefstra, T., Vissers, L.E.L.M., and Vries, B.B.A. de

Abstract

Contains fulltext : 282761.pdf (Publisher’s version ) (Open Access)

Published
2022

22. Realizing the translational promise of psychophysiological research in ASD

Author

McPartland, J.C., Bernier, R., and South, M.

Subjects
Pervasive developmental disorders -- Psychological aspects -- Physiological aspects -- Research, Health
Abstract

Introduction This special issue of the Journal of Autism and Developmental Disorders focuses on the contributions of psychophysiological research to scientific understanding of autism spectrum disorder (ASD). The past decade [...]

Published
2015
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24. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Author

Wang T., Hoekzema K., Vecchio D., Wu H., Sulovari A., Coe B. P., Gillentine M. A., Wilfert A. B., Perez-Jurado L. A., Kvarnung M., Sleyp Y., Earl R. K., Rosenfeld J. A., Geisheker M. R., Han L., Du B., Barnett C., Thompson E., Shaw M., Carroll R., Friend K., Catford R., Palmer E. E., Zou X., Ou J., Li H., Guo H., Gerdts J., Avola E., Calabrese G., Elia M., Greco D., Lindstrand A., Nordgren A., Anderlid B. -M., Vandeweyer G., Van Dijck A., Van der Aa N., McKenna B., Hancarova M., Bendova S., Havlovicova M., Malerba G., Bernardina B. D., Muglia P., van Haeringen A., Hoffer M. J. V., Franke B., Cappuccio G., Delatycki M., Lockhart P. J., Manning M. A., Liu P., Scheffer I. E., Brunetti Pierri N., Rommelse N., Amaral D. G., Santen G. W. E., Trabetti E., Sedlacek Z., Michaelson J. J., Pierce K., Courchesne E., Kooy R. F., Acampado J., Ace A. J., Amatya A., Astrovskaya I., Bashar A., Brooks E., Butler M. E., Cartner L. A., Chin W., Chung W. K., Daniels A. M., Feliciano P., Fleisch C., Ganesan S., Jensen W., Lash A. E., Marini R., Myers V. J., O'Connor E., Rigby C., Robertson B. E., Shah N., Shah S., Singer E., Snyder L. A. G., Stephens A. N., Tjernagel J., Vernoia B. M., Volfovsky N., White L. C., Hsieh A., Shen Y., Zhou X., Turner T. N., Bahl E., Thomas T. R., Brueggeman L., Koomar T., Michael R. J., O'Roak B. J., Barnard R. A., Gibbs R. A., Muzny D., Sabo A., Ahmed K. L. B., Eichler E. E., Siegel M., Abbeduto L., Hilscher B. A., Li D., Smith K., Thompson S., Albright C., Butter E. M., Eldred S., Hanna N., Jones M., Coury D. L., Scherr J., Pifher T., Roby E., Dennis B., Higgins L., Brown M., Alessandri M., Gutierrez A., Hale M. N., Herbert L. M., Schneider H. L., David G., Annett R. D., Sarver D. E., Arriaga I., Camba A., Gulsrud A. C., Haley M., McCracken J. T., Sandhu S., Tafolla M., Yang W. S., Carpenter L. A., Bradley C. C., Gwynette F., Manning P., Shaffer R., Thomas C., Bernier R. A., Fox E. A., Gerdts J. A., Pepper M., Ho T., Cho D., Piven J., Lechniak H., Soorya L. V., Gordon R., Wainer A., Yeh L., Ochoa-Lubinoff C., Russo N., Berry-Kravis E., Booker S., Erickson C. A., Prock L. M., Pawlowski K. G., Matthews E. T., Brewster S. J., Hojlo M. A., Abada E., Lamarche E., Murali S. C., Harvey W. T., Kaplan H. E., Pierce K. L., DeMarco L., Horner S., Pandey J., Plate S., Sahin M., Riley K. D., Carmody E., Constantini J., Esler A., Fatemi A., Hutter H., Landa R. J., McKenzie A. P., Neely J., Singh V., Van Metre B., Wodka E. L., Fombonne E. J., Huang-Storms L. Y., Pacheco L. D., Mastel S. A., Coppola L. A., Francis S., Jarrett A., Jacob S., Lillie N., Gunderson J., Istephanous D., Simon L., Wasserberg O., Rachubinski A. L., Rosenberg C. R., Kanne S. M., Shocklee A. D., Takahashi N., Bridwell S. L., Klimczac R. L., Mahurin M. A., Cotrell H. E., Grant C. A., Hunter S. G., Martin C. L., Taylor C. M., Walsh L. K., Dent K. A., Mason A., Sziklay A., Smith C. J., Nordenskjold M., Romano C., Peeters H., Gecz J., Xia K., SPARK Consortium, Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B. P., Gillentine, M. A., Wilfert, A. B., Perez-Jurado, L. A., Kvarnung, M., Sleyp, Y., Earl, R. K., Rosenfeld, J. A., Geisheker, M. R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E. E., Zou, X., Ou, J., Li, H., Guo, H., Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B. -M., Vandeweyer, G., Van Dijck, A., Van der Aa, N., Mckenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B. D., Muglia, P., van Haeringen, A., Hoffer, M. J. V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P. J., Manning, M. A., Liu, P., Scheffer, I. E., Brunetti Pierri, N., Rommelse, N., Amaral, D. G., Santen, G. W. E., Trabetti, E., Sedlacek, Z., Michaelson, J. J., Pierce, K., Courchesne, E., Kooy, R. F., Acampado, J., Ace, A. J., Amatya, A., Astrovskaya, I., Bashar, A., Brooks, E., Butler, M. E., Cartner, L. A., Chin, W., Chung, W. K., Daniels, A. M., Feliciano, P., Fleisch, C., Ganesan, S., Jensen, W., Lash, A. E., Marini, R., Myers, V. J., O'Connor, E., Rigby, C., Robertson, B. E., Shah, N., Shah, S., Singer, E., Snyder, L. A. G., Stephens, A. N., Tjernagel, J., Vernoia, B. M., Volfovsky, N., White, L. C., Hsieh, A., Shen, Y., Zhou, X., Turner, T. N., Bahl, E., Thomas, T. R., Brueggeman, L., Koomar, T., Michael, R. J., O'Roak, B. J., Barnard, R. A., Gibbs, R. A., Muzny, D., Sabo, A., Ahmed, K. L. B., Eichler, E. E., Siegel, M., Abbeduto, L., Hilscher, B. A., Li, D., Smith, K., Thompson, S., Albright, C., Butter, E. M., Eldred, S., Hanna, N., Jones, M., Coury, D. L., Scherr, J., Pifher, T., Roby, E., Dennis, B., Higgins, L., Brown, M., Alessandri, M., Gutierrez, A., Hale, M. N., Herbert, L. M., Schneider, H. L., David, G., Annett, R. D., Sarver, D. E., Arriaga, I., Camba, A., Gulsrud, A. C., Haley, M., Mccracken, J. T., Sandhu, S., Tafolla, M., Yang, W. S., Carpenter, L. A., Bradley, C. C., Gwynette, F., Manning, P., Shaffer, R., Thomas, C., Bernier, R. A., Fox, E. A., Gerdts, J. A., Pepper, M., Ho, T., Cho, D., Piven, J., Lechniak, H., Soorya, L. V., Gordon, R., Wainer, A., Yeh, L., Ochoa-Lubinoff, C., Russo, N., Berry-Kravis, E., Booker, S., Erickson, C. A., Prock, L. M., Pawlowski, K. G., Matthews, E. T., Brewster, S. J., Hojlo, M. A., Abada, E., Lamarche, E., Murali, S. C., Harvey, W. T., Kaplan, H. E., Pierce, K. L., Demarco, L., Horner, S., Pandey, J., Plate, S., Sahin, M., Riley, K. D., Carmody, E., Constantini, J., Esler, A., Fatemi, A., Hutter, H., Landa, R. J., Mckenzie, A. P., Neely, J., Singh, V., Van Metre, B., Wodka, E. L., Fombonne, E. J., Huang-Storms, L. Y., Pacheco, L. D., Mastel, S. A., Coppola, L. A., Francis, S., Jarrett, A., Jacob, S., Lillie, N., Gunderson, J., Istephanous, D., Simon, L., Wasserberg, O., Rachubinski, A. L., Rosenberg, C. R., Kanne, S. M., Shocklee, A. D., Takahashi, N., Bridwell, S. L., Klimczac, R. L., Mahurin, M. A., Cotrell, H. E., Grant, C. A., Hunter, S. G., Martin, C. L., Taylor, C. M., Walsh, L. K., Dent, K. A., Mason, A., Sziklay, A., Smith, C. J., Nordenskjold, M., Romano, C., Peeters, H., Gecz, J., and Xia, K.

Subjects
0301 basic medicine, Male, CCCTC-Binding Factor, Transcription Factor, Basic Helix-Loop-Helix Transcription Factor, DNA Mutational Analysis, General Physics and Astronomy, RNA-Binding Protein, Heterogeneous-Nuclear Ribonucleoprotein U, VARIANTS, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Neurodevelopmental Disorder, Basic Helix-Loop-Helix Transcription Factors, SPARK Consortium, 2.1 Biological and endogenous factors, Copy-number variation, Aetiology, lcsh:Science, GABRG2, Genetics, Mutation, Multidisciplinary, biology, Neurodevelopmental disorders, RNA-Binding Proteins, High-Throughput Nucleotide Sequencing, Autism spectrum disorders, Multidisciplinary Sciences, DNA-Binding Proteins, Science & Technology - Other Topics, Female, Case-Control Studie, Engineering sciences. Technology, Human, Science, DNA-Binding Protein, Genetic Association Studie, COPY-NUMBER VARIATION, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, Article, KCNQ3 Potassium Channel, DNA Mutational Analysi, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, AUTISM, Gene, Genetic Association Studies, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Science & Technology, DISABILITY, Prevention, Case-control study, General Chemistry, Repressor Protein, medicine.disease, FRAMEWORK, Repressor Proteins, DE-NOVO MUTATION, 030104 developmental biology, CTCF, Neurodevelopmental Disorders, Case-Control Studies, biology.protein, Next-generation sequencing, Autism, lcsh:Q, Cohort Studie, 030217 neurology & neurosurgery, Transcription Factors
Abstract

Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF, For many neurodevelopmental disorder (NDD) risk genes, the significance for mutational burden is unestablished. Here, the authors sequence 125 candidate NDD genes in over 16,000 NDD cases; case-control mutational burden analysis identifies 48 genes with a significant burden of severe ultra-rare mutations.

Published
2020

27. The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals

Author

Giannuzzi, G., Schmidt, P. J., Porcu, E., Willemin, G., Munson, K. M., Nuttle, X., Earl, R., Chrast, J., Hoekzema, K., Risso, D., Mannik, K., De Nittis, P., Baratz, E. D., Attanasio, C., Martin, S., Jacquemont, S., Bottani, A., Gerard, M., Weber, S., Jacquette, A., Lesne, F., Isidor, B., Le Caignec, C., Nizon, M., Vincent-Delorme, C., Gilbert-Dussardier, B., Curro`, A., Renieri, A., Giachino, D., Brusco, A., Herault, Y., Gao, X., Philpott, C. C., Bernier, R. A., Kutalik, Z., Fleming, M. D., Eichler, E. E., Reymond, A., Chercheur indépendant, Department of Genome Sciences [Seattle] (GS), University of Washington [Seattle], Weill Medical College of Cornell University [New York], University of Tartu, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), Christian Albrechts University, Department of Psychiatry and Behavioral Sciences, Department of Medical Genetics, Université de Lausanne (UNIL), Center for Integrative Genomics - Institute of Bioinformatics, Génopode (CIG), Swiss Institute of Bioinformatics [Lausanne] (SIB), and Université de Lausanne (UNIL)-Université de Lausanne (UNIL)

Subjects
Male, 0301 basic medicine, [SDV]Life Sciences [q-bio], Chromosome Disorders, 0302 clinical medicine, Chromosome Duplication, Gene duplication, Homeostasis, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), 2. Zero hunger, Genetics, iron deficiency anemia, medicine.diagnostic_test, Microcytosis, Anemia, Iron deficiency, 3. Good health, BOLA2, Phenotype, medicine.anatomical_structure, Serum iron, Female, Chromosome Deletion, Heterozygote, DNA Copy Number Variations, Genotype, 16p11.2 copy number variants, Iron, Biology, Article, 03 medical and health sciences, human evolution, gene duplication, human-specific segmental duplications, medicine, Animals, Humans, Autistic Disorder, [SDV.GEN]Life Sciences [q-bio]/Genetics, Proteins, medicine.disease, Red blood cell, 030104 developmental biology, Iron-deficiency anemia, Hemoglobin, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery
Abstract

Human-specific duplications at chromosome 16p11.2 mediate recurrent pathogenic 600 kbp BP4–BP5 copy-number variations, which are among the most common genetic causes of autism. These copy-number polymorphic duplications are under positive selection and include three to eight copies of BOLA2, a gene involved in the maturation of cytosolic iron-sulfur proteins. To investigate the potential advantage provided by the rapid expansion of BOLA2, we assessed hematological traits and anemia prevalence in 379,385 controls and individuals who have lost or gained copies of BOLA2: 89 chromosome 16p11.2 BP4–BP5 deletion carriers and 56 reciprocal duplication carriers in the UK Biobank. We found that the 16p11.2 deletion is associated with anemia (18/89 carriers, 20%, p = 4e−7, OR = 5), particularly iron-deficiency anemia. We observed similar enrichments in two clinical 16p11.2 deletion cohorts, which included 6/63 (10%) and 7/20 (35%) unrelated individuals with anemia, microcytosis, low serum iron, or low blood hemoglobin. Upon stratification by BOLA2 copy number, our data showed an association between low BOLA2 dosage and the above phenotypes (8/15 individuals with three copies, 53%, p = 1e-4). In parallel, we analyzed hematological traits in mice carrying the 16p11.2 orthologous deletion or duplication, as well as Bola2(+/−) and Bola2(−/−) animals. The Bola2-deficient mice and the mice carrying the deletion showed early evidence of iron deficiency, including a mild decrease in hemoglobin, lower plasma iron, microcytosis, and an increased red blood cell zinc-protoporphyrin-to-heme ratio. Our results indicate that BOLA2 participates in iron homeostasis in vivo, and its expansion has a potential adaptive role in protecting against iron deficiency.

Published
2019

29. A global-scale screening of non-native aquatic organisms to identify potentially invasive species under current and future climate conditions

Author

Vilizzi, L., Copp, G.H., Hill, J.E., Adamovich, B., Aislabie, L., Akin, D., Al-Faisal, A.J., Almeida, D., Azmai, M.N.A., Bakiu, R., Bellati, A., Bernier, R., Bies, J.M., Bilge, G., Branco, P., Bui, T.D., Canning-Clode, J., Cardoso Ramos, H.A., Castellanos-Galindo, G.A., Castro, N., Chaichana, R., Chainho, P., Chan, J., Cunico, A.M., Curd, A., Dangchana, P., Dashinov, D., Davison, P.I., de Camargo, M.P., Dodd, J.A., Durland Donahou, A.L., Edsman, L., Ekmekçi, F.G., Elphinstone-Davis, J., Erős, T., Evangelista, C., Fenwick, G., Ferincz, Á., Ferreira, T., Feunteun, E., Filiz, H., Forneck, S.C., Gajduchenko, H.S., Gama Monteiro, J., Gestoso, I., Giannetto, D., Gilles A.S., Jr, Gizzi, F., Glamuzina, B., Glamuzina, L., Goldsmit, J., Gollasch, S., Goulletquer, P., Grabowska, J., Harmer, R., Haubrock, P.J., He, D., Hean, J.W., Herczeg, G., Howland, K.L., İlhan, A., Interesova, E., Jakubčinová, K., Jelmert, A., Johnsen, S.I., Kakareko, T., Kanongdate, K., Killi, N., Kim, J.-E., Kırankaya, Ş.G., Kňazovická, D., Kopecký, O., Kostov, V., Koutsikos, N., Kozic, S., Kuljanishvili, T., Kumar, B., Kumar, L., Kurita, Y., Kurtul, I., Lazzaro, L., Lee, L., Lehtiniemi, M., Leonardi, G., Leuven, R.S.E.W., Li, S., Lipinskaya, T., Liu, F., Lloyd, L., Lorenzoni, M., Luna, S.A., Lyons, T.J., Magellan, K., Malmstrøm, M., Marchini, A., Marr, S.M., Masson, G., Masson, L., McKenzie, C.H., Memedemin, D., Mendoza, R., Minchin, D., Miossec, L., Moghaddas, S.D., Moshobane, M.C., Mumladze, L., Naddafi, R., Najafi-Majd, E., Năstase, A., Năvodaru, I., Neal, J.W., Nienhuis, S., Nimtim, M., Nolan, E.T., Occhipinti-Ambrogi, A., Ojaveer, H., Olenin, S., Olsson, K., Onikura, N., O'Shaughnessy, K., Paganelli, D., Parretti, P., Patoka, J., Pavia R.T.B., Jr, Pellitteri-Rosa, D., Pelletier-Rousseau, M., Peralta, E.M., Perdikaris, C., Pietraszewski, D., Piria, M., Pitois, S., Pompei, L., Poulet, N., Preda, C., Puntila-Dodd, R., Qashqaei, A.T., Radočaj, T., Rahmani, H., Raj, S., Reeves, D., Ristovska, M., Rizevsky, V., Robertson, D.R., Robertson, P., Ruykys, L., Saba, A.O., Santos, J.M., Sarı, H.M., Segurado, P., Semenchenko, V., Senanan, W., Simard, N., Simonović, P., Skóra, M.E., Slovák Švolíková, K., Smeti, E., Šmídová, T., Špelić, I., Srėbalienė, G., Stasolla, G., Stebbing, P., Števove, B., Suresh, V.R., Szajbert, B., Ta, K.A.T., Tarkan, A.S., Tempesti, J., Therriault, T.W., Tidbury, H.J., Top-Karakuş, N., Tricarico, E., Troca, D.F.A., Tsiamis, K., Tuckett, Q.M., Tutman, P., Uyan, U., Uzunova, E., Vardakas, L., Velle, G., Verreycken, H., Vintsek, L., Wei, H., Weiperth, A., Weyl, O.L.F., Winter, E.R., Włodarczyk, R., Wood, L.E., Yang, R., Yapıcı, S., Yeo, S.S.B., Yoğurtçuoğlu, B., Yunnie, A.L.E., Zhu, Y., Zięba, G., Žitňanová, K., Clarke, S., Vilizzi, L., Copp, G.H., Hill, J.E., Adamovich, B., Aislabie, L., Akin, D., Al-Faisal, A.J., Almeida, D., Azmai, M.N.A., Bakiu, R., Bellati, A., Bernier, R., Bies, J.M., Bilge, G., Branco, P., Bui, T.D., Canning-Clode, J., Cardoso Ramos, H.A., Castellanos-Galindo, G.A., Castro, N., Chaichana, R., Chainho, P., Chan, J., Cunico, A.M., Curd, A., Dangchana, P., Dashinov, D., Davison, P.I., de Camargo, M.P., Dodd, J.A., Durland Donahou, A.L., Edsman, L., Ekmekçi, F.G., Elphinstone-Davis, J., Erős, T., Evangelista, C., Fenwick, G., Ferincz, Á., Ferreira, T., Feunteun, E., Filiz, H., Forneck, S.C., Gajduchenko, H.S., Gama Monteiro, J., Gestoso, I., Giannetto, D., Gilles A.S., Jr, Gizzi, F., Glamuzina, B., Glamuzina, L., Goldsmit, J., Gollasch, S., Goulletquer, P., Grabowska, J., Harmer, R., Haubrock, P.J., He, D., Hean, J.W., Herczeg, G., Howland, K.L., İlhan, A., Interesova, E., Jakubčinová, K., Jelmert, A., Johnsen, S.I., Kakareko, T., Kanongdate, K., Killi, N., Kim, J.-E., Kırankaya, Ş.G., Kňazovická, D., Kopecký, O., Kostov, V., Koutsikos, N., Kozic, S., Kuljanishvili, T., Kumar, B., Kumar, L., Kurita, Y., Kurtul, I., Lazzaro, L., Lee, L., Lehtiniemi, M., Leonardi, G., Leuven, R.S.E.W., Li, S., Lipinskaya, T., Liu, F., Lloyd, L., Lorenzoni, M., Luna, S.A., Lyons, T.J., Magellan, K., Malmstrøm, M., Marchini, A., Marr, S.M., Masson, G., Masson, L., McKenzie, C.H., Memedemin, D., Mendoza, R., Minchin, D., Miossec, L., Moghaddas, S.D., Moshobane, M.C., Mumladze, L., Naddafi, R., Najafi-Majd, E., Năstase, A., Năvodaru, I., Neal, J.W., Nienhuis, S., Nimtim, M., Nolan, E.T., Occhipinti-Ambrogi, A., Ojaveer, H., Olenin, S., Olsson, K., Onikura, N., O'Shaughnessy, K., Paganelli, D., Parretti, P., Patoka, J., Pavia R.T.B., Jr, Pellitteri-Rosa, D., Pelletier-Rousseau, M., Peralta, E.M., Perdikaris, C., Pietraszewski, D., Piria, M., Pitois, S., Pompei, L., Poulet, N., Preda, C., Puntila-Dodd, R., Qashqaei, A.T., Radočaj, T., Rahmani, H., Raj, S., Reeves, D., Ristovska, M., Rizevsky, V., Robertson, D.R., Robertson, P., Ruykys, L., Saba, A.O., Santos, J.M., Sarı, H.M., Segurado, P., Semenchenko, V., Senanan, W., Simard, N., Simonović, P., Skóra, M.E., Slovák Švolíková, K., Smeti, E., Šmídová, T., Špelić, I., Srėbalienė, G., Stasolla, G., Stebbing, P., Števove, B., Suresh, V.R., Szajbert, B., Ta, K.A.T., Tarkan, A.S., Tempesti, J., Therriault, T.W., Tidbury, H.J., Top-Karakuş, N., Tricarico, E., Troca, D.F.A., Tsiamis, K., Tuckett, Q.M., Tutman, P., Uyan, U., Uzunova, E., Vardakas, L., Velle, G., Verreycken, H., Vintsek, L., Wei, H., Weiperth, A., Weyl, O.L.F., Winter, E.R., Włodarczyk, R., Wood, L.E., Yang, R., Yapıcı, S., Yeo, S.S.B., Yoğurtçuoğlu, B., Yunnie, A.L.E., Zhu, Y., Zięba, G., Žitňanová, K., and Clarke, S.

Abstract

The threat posed by invasive non-native species worldwide requires a global approach to identify which introduced species are likely to pose an elevated risk of impact to native species and ecosystems. To inform policy, stakeholders and management decisions on global threats to aquatic ecosystems, 195 assessors representing 120 risk assessment areas across all six inhabited continents screened 819 non-native species from 15 groups of aquatic organisms (freshwater, brackish, marine plants and animals) using the Aquatic Species Invasiveness Screening Kit. This multi-lingual decision-support tool for the risk screening of aquatic organisms provides assessors with risk scores for a species under current and future climate change conditions that, following a statistically based calibration, permits the accurate classification of species into high-, medium- and low-risk categories under current and predicted climate conditions. The 1730 screenings undertaken encompassed wide geographical areas (regions, political entities, parts thereof, water bodies, river basins, lake drainage basins, and marine regions), which permitted thresholds to be identified for almost all aquatic organismal groups screened as well as for tropical, temperate and continental climate classes, and for tropical and temperate marine ecoregions. In total, 33 species were identified as posing a ‘very high risk’ of being or becoming invasive, and the scores of several of these species under current climate increased under future climate conditions, primarily due to their wide thermal tolerances. The risk thresholds determined for taxonomic groups and climate zones provide a basis against which area-specific or climate-based calibrated thresholds may be interpreted. In turn, the risk rankings help decision-makers identify which species require an immediate ‘rapid’ management action (e.g. eradication, control) to avoid or mitigate adverse impacts, which require a full risk assessment, and which are to be r

Published
2021

30. Relevance of Brain MRI in Patients with Uveitis: Retrospective Cohort on 402 Patients.

Author

Chirpaz, N. , MD, Kerever, S., MD, PhD, Gavoille, A., MD, Kodjikian, L., MD, PhD, Bernier, R., MD, Gerfaud-Valentin, M., MD, Denis, P., MD, PhD, Mathis, T., MD, PhD, Jamilloux, Y., MD, PhD, and Sève, P., MD, PhD

Subjects
BLOOD cell count, UVEITIS, MAGNETIC resonance imaging, ANGIOTENSIN converting enzyme, IRIDOCYCLITIS, COMPUTED tomography
Abstract

To assess the diagnostic value of brain magnetic resonance imaging (bMRI) for the etiological diagnosis of uveitis and to establish predictive factors associated with its advantageous use. Retrospective study on all patients with de novo uveitis who were referred to our tertiary hospital and who underwent a bMRI between 2003 and 2018. bMRI was contributive in 19 out of 402 cases (5%), among patients with a contributive bMRI, 68% had neurological signs. Univariate analysis established that neurological signs (p <.001), granulomatous uveitis (p =.003), retinal vasculitis (p =.002), and intermediate uveitis (p <.001) were all significantly associated with a contributive bMRI. Multivariate analysis confirms the significant association of neurological signs (p <.001) and intermediate uveitis (p =.01). bMRI appears to be a relevant exam in specific cases; intermediate/posterior uveitis or panuveitis accompanied by neurological signs, retinal vasculitis, or in patients older than 40, to rule out an oculocerebral lymphoma. ACE: Angiotensin-Converting Enzyme; bMRI: Magnetic Resonance Imaging; CBC: Complete Blood cell Count; BMRI: Brain Magnetic Resonance Imaging; CT: Computerized Tomography; MS: Multiple Sclerosis; NS: Neurological Signs; OCL: Oculocerebral Lymphoma; RIS: Radiologically Isolated Syndrome [ABSTRACT FROM AUTHOR]

Published
2022
Full Text
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32. Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (Nature Communications, (2020), 11, 1, (4932), 10.1038/s41467-020-18723-y)

Author

Wang, T., Hoekzema, K., Vecchio, Davide., Wu, H., Sulovari, A., Coe, B. P., Gillentine, M. A., Wilfert, A. B., Perez-Jurado, L. A., Kvarnung, M., Sleyp, Y., Earl, R. K., Rosenfeld, J. A., Geisheker, M. R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E. E., Zou, X., Ou, J., Li, H., Guo, H., Gerdts, J., Avola, E., Calabrese, Giuseppe, Elia, Maurizio., Greco, Donatella, Lindstrand, A., Nordgren, A., Anderlid, B. -M., Vandeweyer, G., Van Dijck, A., Van der Aa, N., Mckenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B. D., Muglia, P., van Haeringen, A., Hoffer, M. J. V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P. J., Manning, M. A., Liu, P., Scheffer, I. E., Brunetti-Pierri, N., Rommelse, N., Amaral, D. G., Santen, G. W. E., Trabetti, E., Sedlacek, Z., Michaelson, J. J., Pierce, K., Courchesne, E., Kooy, R. F., Acampado, J., Ace, A. J., Amatya, A., Astrovskaya, I., Bashar, A., Brooks, E., Butler, M. E., Cartner, L. A., Chin, W., Chung, W. K., Daniels, A. M., Feliciano, P., Fleisch, C., Ganesan, S., Jensen, W., Lash, A. E., Marini, R., Myers, V. J., O'Connor, E., Rigby, C., Robertson, B. E., Shah, N., Shah, S., Singer, E., Snyder, L. A. G., Stephens, A. N., Tjernagel, J., Vernoia, B. M., Volfovsky, N., White, L. C., Hsieh, A., Shen, Y., Zhou, X., Turner, T. N., Bahl, E., Thomas, T. R., Brueggeman, L., Koomar, T., O'Roak, B. J., Barnard, R. A., Gibbs, R. A., Muzny, D., Sabo, A., Ahmed, K. L. B., Eichler, E. E., Siegel, M., Abbeduto, L., Hilscher, B. A., Li, D., Smith, K., Thompson, S., Albright, C., Butter, E. M., Eldred, S., Hanna, N., Jones, M., Coury, D. L., Scherr, J., Pifher, T., Roby, E., Dennis, B., Higgins, L., Brown, M., Alessandri, M., Gutierrez, A., Hale, M. N., Herbert, L. M., Schneider, H. L., David, G., Annett, R. D., Sarver, D. E., Arriaga, I., Camba, A., Gulsrud, A. C., Haley, M., Mccracken, J. T., Sandhu, S., Tafolla, M., Yang, W. S., Carpenter, L. A., Bradley, C. C., Gwynette, F., Manning, P., Shaffer, R., Thomas, C., Bernier, R. A., Fox, E. A., Gerdts, J. A., Pepper, M., Ho, T., Cho, D., Piven, J., Lechniak, H., Soorya, L. V., Gordon, R., Wainer, A., Yeh, L., Ochoa-Lubinoff, C., Russo, N., Berry-Kravis, E., Booker, S., Erickson, C. A., Prock, L. M., Pawlowski, K. G., Matthews, E. T., Brewster, S. J., Hojlo, M. A., Abada, E., Lamarche, E., Murali, S. C., Harvey, W. T., Kaplan, H. E., Pierce, K. L., Demarco, L., Horner, S., Pandey, J., Plate, S., Sahin, M., Riley, K. D., Carmody, E., Constantini, J., Esler, A., Fatemi, A., Hutter, H., Landa, R. J., Mckenzie, A. P., Neely, J., Singh, V., Van Metre, B., Wodka, E. L., Fombonne, E. J., Huang-Storms, L. Y., Pacheco, L. D., Mastel, S. A., Coppola, L. A., Francis, S., Jarrett, A., Jacob, S., Lillie, N., Gunderson, J., Istephanous, D., Simon, L., Wasserberg, O., Rachubinski, A. L., Rosenberg, C. R., Kanne, S. M., Shocklee, A. D., Takahashi, N., Bridwell, S. L., Klimczac, R. L., Mahurin, M. A., Cotrell, H. E., Grant, C. A., Hunter, S. G., Martin, C. L., Taylor, C. M., Walsh, L. K., Dent, K. A., Mason, A., Sziklay, A., Smith, C. J., Nordenskjold, M., Romano, Corrado, Peeters, H., Gecz, J., and Xia, K.

Published
2020

33. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

Author

Scott, T.M., Guo, H, Eichler, E.E., Rosenfeld, J.A., Pang, K., Liu, Z, Lalani, S., Bi, W., Yang, Y., Bacino, C.A., Streff, H., Lewis, A.M., Koenig, M.K., Thiffault, I., Bellomo, A., Everman, D.B., Jones, J.R., Stevenson, R.E., Bernier, R., Gilissen, C.F., Pfundt, R.P., Hiatt, S.M., Cooper, G.M., Holder, J.L., Scott, D.A., Scott, T.M., Guo, H, Eichler, E.E., Rosenfeld, J.A., Pang, K., Liu, Z, Lalani, S., Bi, W., Yang, Y., Bacino, C.A., Streff, H., Lewis, A.M., Koenig, M.K., Thiffault, I., Bellomo, A., Everman, D.B., Jones, J.R., Stevenson, R.E., Bernier, R., Gilissen, C.F., Pfundt, R.P., Hiatt, S.M., Cooper, G.M., Holder, J.L., and Scott, D.A.

Abstract

Contains fulltext : 220420.pdf (Publisher’s version ) (Closed access), The bromodomain adjacent to zinc finger 2B gene (BAZ2B) encodes a protein involved in chromatin remodeling. Loss of BAZ2B function has been postulated to cause neurodevelopmental disorders. To determine whether BAZ2B deficiency is likely to contribute to the pathogenesis of these disorders, we performed bioinformatics analyses that demonstrated a high level of functional convergence during fetal cortical development between BAZ2B and genes known to cause autism spectrum disorder (ASD) and neurodevelopmental disorder. We also found an excess of de novo BAZ2B loss-of-function variants in exome sequencing data from previously published cohorts of individuals with neurodevelopmental disorders. We subsequently identified seven additional individuals with heterozygous deletions, stop-gain, or de novo missense variants affecting BAZ2B. All of these individuals have developmental delay (DD), intellectual disability (ID), and/or ASD. Taken together, our findings suggest that haploinsufficiency of BAZ2B causes a neurodevelopmental disorder, whose cardinal features include DD, ID, and ASD.

Published
2020

34. Life history of the sand shrimp, Crangon septemspinosa Say, in a southern Gulf of St. Lawrence estuary

Author

Locke, A., Klassen, G.J., Bernier, R., and Joseph, V.

Subjects
Gulf of Saint Lawrence -- Environmental aspects, Estuaries -- Research -- Environmental aspects -- Physiological aspects, Shrimps -- Research -- Physiological aspects -- Demographic aspects -- Environmental aspects, Ecological research -- Physiological aspects -- Research -- Environmental aspects, Biological sciences, Zoology and wildlife conservation, Physiological aspects, Research, Demographic aspects, Environmental aspects
Abstract

ABSTRACT Body size, sex ratio and timing of reproduction of the sand shrimp, Crangon septemspinosa Say (1818), and the distribution of larvae and adults with respect to temperature and salinity, [...]

Published
2005

37. Perforation Tests of Aluminum Alloy Specimens for a Wide Range of Temperatures Using High-Performance Thermal Chamber - Experimental and Numerical Analysis

Author

Jia, B., Pesci, R., Bernier, R., BAHI, Slim, Wood, P., Bendarma, A., Jankowiak, T., Rusinek, A., Lodygowski, T., Klosak, M., International University of Agadir (Universiapolis), Poznan University of Technology (PUT), Laboratoire d'Etude des Microstructures et de Mécanique des Matériaux (LEM3), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS)-Arts et Métiers Sciences et Technologies, HESAM Université (HESAM)-HESAM Université (HESAM), and University of Derby [United Kingdom]

Subjects
Range (particle radiation), Materials science, Numerical analysis, Alloy, Perforation (oil well), chemistry.chemical_element, [PHYS.MECA.GEME]Physics [physics]/Mechanics [physics]/Mechanical engineering [physics.class-ph], 02 engineering and technology, engineering.material, 021001 nanoscience & nanotechnology, [SPI]Engineering Sciences [physics], 020303 mechanical engineering & transports, 0203 mechanical engineering, chemistry, Aluminium, Thermal, engineering, Composite material, 0210 nano-technology, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2019

38. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Author

Dijck, A. van, Vulto-van Silfhout, A.T., Cappuyns, E., Werf, I.M. van der, Mancini, G.M., Tzschach, A., Bernier, R., Gozes, I., Eichler, E.E., Romano, C., Lindstrand, A., Nordgren, A., Kvarnung, M., Kleefstra, T., Vries, B.B.A. de, Kury, S., Rosenfeld, J.A., Meuwissen, M.E., Vandeweyer, G., Kooy, R.F., Bakshi, M., Wilson, M., Berman, Y., Dickson, R., Fransen, E., Helsmoortel, C., Ende, J. van den, Aa, N. van der, Wijdeven, M.J. van de, Rosenblum, J., Monteiro, F., Kok, F., Quercia, N., Bowdin, S., Dyment, D., Chitayat, D., Alkhunaizi, E., Boonen, S.E., Keren, B., Jacquette, A., Faivre, L., Bezieau, S., Isidor, B., Riess, A., Moog, U., Lynch, S.A., McVeigh, T., Elpeleg, O., Smeland, M.F., Fannemel, M., Haeringen, A. van, Maas, S.M., Veenstra-Knol, H.E., Schouten, M., Willemsen, M.H., Marcelis, C.L., Ockeloen, C., Burgt, I. van der, Feenstra, I., Smagt, J. van der, Jezela-Stanek, A., Krajewska-Walasek, M., Gonzalez-Lamuno, D., Anderlid, B.M., Malmgren, H., Nordenskjold, M., Clement, E., Hurst, J., Metcalfe, K., Mansour, S., Lachlan, K., Clayton-Smith, J., Hendon, L.G., Abdulrahman, O.A., Morrow, E., McMillan, C., Gerdts, J., Peeden, J., Vergano, S.A.S., Valentino, C., Chung, W.K., Ozmore, J.R., Bedrosian-Sermone, S., Dennis, A., Treat, K., Hughes, S.S., Safina, N., Pichon, J.B. le, McGuire, M., Infante, E., Madan-Khetarpal, S., Desai, S., Benke, P., Krokosky, A., Cristian, I., Baker, L., Gripp, K., Stessman, H.A., Eichenberger, J., Jayakar, P., Pizzino, A., Manning, M.A., Slattery, L., ADNP Consortium, Universidad de Cantabria, ADNP Consortium, Human Genetics, ANS - Complex Trait Genetics, and Clinical Genetics

Subjects
Male, 0301 basic medicine, Pediatrics, Autism Spectrum Disorder, Autism, Intellectual disability, Cohort Studies, Epilepsy, 0302 clinical medicine, Genotype-phenotype distinction, Neurodevelopmental disorder, Neurodevelopmental Disorder, Helsmoortel-Van der Aa syndrome, Child, ADNP, Syndrome, Hypotonia, Autism spectrum disorder, Child, Preschool, Cohort, Female, Abnormalities, medicine.symptom, Multiple, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, Adolescent, Nerve Tissue Proteins, Article, Young Adult, 03 medical and health sciences, Intellectual Disability, Helsmoortel-Van der Aa Síndrome, medicine, Genetics, Humans, Abnormalities, Multiple, Preschool, Biology, Biological Psychiatry, Homeodomain Proteins, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Infant, medicine.disease, 030104 developmental biology, Neurodevelopmental Disorders, Mutation, Human medicine, business, 030217 neurology & neurosurgery
Abstract

Background In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking. Methods We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents. Clinicians filled in a structured questionnaire on genetic and clinical findings to enable correlations between genotype and phenotype. Clinical photographs and specialist reports were gathered. Parents were interviewed to complement the written questionnaires. Results We report on the detailed clinical characterization of a large cohort of individuals with an ADNP mutation and demonstrate a distinctive combination of clinical features, including mild to severe intellectual disability, autism, severe speech and motor delay, and common facial characteristics. Brain abnormalities, behavioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, gastrointestinal problems, short stature, and hormonal deficiencies are common comorbidities. Strikingly, individuals with the recurrent p.Tyr719* mutation were more severely affected. Conclusions This overview defines the full clinical spectrum of individuals with ADNP mutations, a specific autism subtype. We show that individuals with mutations in ADNP have many overlapping clinical features that are distinctive from those of other autism and/or intellectual disability syndromes. In addition, our data show preliminary evidence of a correlation between genotype and phenotype. This work was supported by grants from the European Research Area Networks Network of European Funding for Neuroscience Research through the Research Foundation–Flanders and the Chief Scientist Office–Ministry of Health (to RFK, GV, IG). This research was supported, in part, by grants from the Simons Foundation Autism Research Initiative (Grant No. SFARI 303241 to EEE) and National Institutes of Health (Grant No. R01MH101221 to EEE). This work was also supported by the Italian Ministry of Health and ‘5 per mille’ funding (to CR). For many individuals, sequencing was provided by research initiatives like the Care4Rare Research Consortium in Canada or the Deciphering Developmental Disorders (DDD) study in the UK. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (Grant No. HICF-1009–003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (Grant No. WT098051). The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the Department of Health. The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South Research Ethics Committee, and GEN/284/12 granted by the Republic of Ireland Research Ethics Committee). The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network.

Published
2019

40. BaBar DIRC electronics front-end chain

Author

Bailly, P., Beigbeder, C., Bernier, R., Breton, D., Bonneaud, G., Caceres, T., Chase, R., Chauveau, J., Del Buono, L., Dohou, F., Ducorps, A., Gastaldi, G., Genat, J.F., Hrisoho, A., Imbert, P., Lebbolo, H., Matricon, P., Oxoby, G., Renard, C., Roos, L., Sen, S., Thiebaux, C., Truong, K., Tocut, V., Vasileidis, G., Va'Vra, J., Verderi, M., Warner, D., Wilson, R.J., Wormser, G., Zhang, B., and Zomer, F.

Subjects
Real-time data processing -- Analysis, Photodetectors -- Analysis, Cherenkov radiation -- Analysis, Photoelectrons -- Analysis, Business, Electronics, Electronics and electrical industries
Abstract

The Front-End electronics of the Detector of Internally Reflected Cerenkov light (DIRC) for the BaBar experiment is presented. Its aim is to measure to better than 1ns the arrival time of Cerenkov photoelectrons, detected in a 11,000 phototubes array and their amplitude spectra. It mainly comprises 64-channel DIRC Front-End Boards (DFB) equipped with eight full-custom Analog Chips performing zero-cross discrimination with 2 mV threshold and pulse shaping, four full-custom Digital TDC chips for timing measurements with 500 ps binning and a readout logic selecting hits in the trigger window, and DIRC Crate Controller cards (DCC) serializing the data collected from up to 16 DFBs onto a 1.2 Gb/s optical link. Extensive test results of the pre-production chips will be presented, as well as system tests.

Published
1998

41. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Author

D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Mace, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gerard, M., Goin-Kochel, R. P., Grant, E., Hunter, J. V., Isidor, B., Jacquette, A., Jonch, A. E., Keren, B., Lacombe, D., Le Caignec, C., Martin, C. L., Mannik, K., Metspalu, A., Mignot, C., Mukherjee, P., Owen, M. J., Passeggeri, M., Rooryck-Thambo, C., Rosenfeld, J. A., Spence, S. J., Steinman, K. J., Tjernagel, J., Van Haelst, M., Shen, Y., Draganski, B., Sherr, E. H., Ledbetter, D. H., van den Bree, M. B. M., Beckmann, J. S., Spiro, J. E., Reymond, A., Jacquemont, S., Chung, W. K., Knoers, N. V. A. M., Martinet, D., Belfiore, M., Cuvellier, J. -C., Devries, B., Delrue, M. -A., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, M. A., Minet, J. -C., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, B. H., Koolen, D. A., Vulto-Van Silfhout, A., de Leeuw, N., Rosanfeld, J. A., Filges, I., Achatz, E., Roetzer, K. M., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, P. M., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, G. P., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Freminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, R. F., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Endre, J., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., La, K., Levy, S., Lian, A., Llorens, A. V., Loftus, K., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith, B., Snow, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Blaumeiser, Bettina, Kooy, Frank, Other departments, Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium, Knoers, VA., Martinet, D., Belfiore, M., Cuvellier, JC., de Vries, B., Delrue, MA., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, MA., Minet, JC., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, BH., Koolen, DA., Vulto-van Silfhout, A., de Leeuw, N., Rosenfeld, JA., Filges, I., Achatz, E., Roetzer, KM., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, PM., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, GP., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Fréminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, RF., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, AL., Benedetti, M., Berg, J., Berman, J., Berry, LN., Bibb, AL., Blaskey, L., Brennan, J., Brewton, CM., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, AG., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, JE., Evans, YL., Findlay, A., Fischbach, GD., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, SE., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, FI., Jenkins J.<Suffix>3rd</Suffix>, Jeremy, RJ., Johnson, K., Kanne, SM., Kessler, S., Khan, SY., Ku, M., Kuschner, E., Laakman, AL., Lam, P., Lasala, MW., Lee, H., LaGuerre, K., Levy, S., Lian Cavanagh, A., Llorens, AV., Loftus Campe, K., Luks, TL., Marco, EJ., Martin, S., Martin, AJ., Marzano, G., Masson, C., McGovern, KE., McNally Keehn, R., Miller, DT., Miller, FK., Moss, TJ., Murray, R., Nagarajan, SS., Nowell, KP., Owen, J., Paal, AM., Packer, A., Page, PZ., Paul, BM., Peters, A., Peterson, D., Poduri, A., Pojman, NJ., Porche, K., Proud, MB., Qasmieh, S., Ramocki, MB., Reilly, B., Roberts, TP., Shaw, D., Sinha, T., Smith-Packard, B., Snow Gallagher, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, and Amsterdam Reproduction & Development (AR&D)

Subjects
Male, 0301 basic medicine, Proband, Pediatrics, Autism Spectrum Disorder, Developmental Disabilities, Chromosome Disorders, Comorbidity, Nonverbal learning disorder, Cohort Studies, Cognition, 0302 clinical medicine, Cerebellum, Chromosome Duplication, Gene duplication, Copy-number variation, Non-U.S. Gov't, Child, 2. Zero hunger, Intelligence quotient, Research Support, Non-U.S. Gov't, Middle Aged, Psychiatry and Mental health, Microcephaly, Female, Schizophrenic Psychology, Chromosome Deletion, Psychology, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Research Support, Nervous System Malformations, Article, Chromosomes, Young Adult, 03 medical and health sciences, Intellectual Disability, Journal Article, medicine, Humans, Autistic Disorder, Preschool, Psychiatry, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Epilepsy, Pair 16, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Case-control study, Autism Spectrum Disorder/epidemiology, Autism Spectrum Disorder/genetics, Autistic Disorder/epidemiology, Autistic Disorder/genetics, Case-Control Studies, Cerebellum/abnormalities, Child, Preschool, Chromosome Disorders/epidemiology, Chromosome Disorders/genetics, Chromosomes, Human, Pair 16/genetics, Developmental Disabilities/epidemiology, Developmental Disabilities/genetics, Epilepsy/epidemiology, Epilepsy/genetics, Intellectual Disability/epidemiology, Intellectual Disability/genetics, Microcephaly/epidemiology, Microcephaly/genetics, Nervous System Malformations/epidemiology, Nervous System Malformations/genetics, Schizophrenia/epidemiology, Schizophrenia/genetics, medicine.disease, 030104 developmental biology, Chromosomes, Human, Pair 16, Schizophrenia, Autism, Human medicine, 030217 neurology & neurosurgery
Abstract

Contains fulltext : 167711.pdf (Publisher’s version ) (Closed access) IMPORTANCE: The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI). OBJECTIVES: To characterize the effects of the 16p11.2 duplication on cognitive, behavioral, medical, and anthropometric traits and to understand the specificity of these effects by systematically comparing results in duplication carriers and reciprocal deletion carriers, who are also at risk for ASD. DESIGN, SETTING, AND PARTICIPANTS: This international cohort study of 1006 study participants compared 270 duplication carriers with their 102 intrafamilial control individuals, 390 reciprocal deletion carriers, and 244 deletion controls from European and North American cohorts. Data were collected from August 1, 2010, to May 31, 2015 and analyzed from January 1 to August 14, 2015. Linear mixed models were used to estimate the effect of the duplication and deletion on clinical traits by comparison with noncarrier relatives. MAIN OUTCOMES AND MEASURES: Findings on the Full-Scale IQ (FSIQ), Nonverbal IQ, and Verbal IQ; the presence of ASD or other DSM-IV diagnoses; BMI; head circumference; and medical data. RESULTS: Among the 1006 study participants, the duplication was associated with a mean FSIQ score that was lower by 26.3 points between proband carriers and noncarrier relatives and a lower mean FSIQ score (16.2-11.4 points) in nonproband carriers. The mean overall effect of the deletion was similar (-22.1 points; P < .001). However, broad variation in FSIQ was found, with a 19.4- and 2.0-fold increase in the proportion of FSIQ scores that were very low (100) compared with the deletion group (P < .001). Parental FSIQ predicted part of this variation (approximately 36.0% in hereditary probands). Although the frequency of ASD was similar in deletion and duplication proband carriers (16.0% and 20.0%, respectively), the FSIQ was significantly lower (by 26.3 points) in the duplication probands with ASD. There also were lower head circumference and BMI measurements among duplication carriers, which is consistent with the findings of previous studies. CONCLUSIONS AND RELEVANCE: The mean effect of the duplication on cognition is similar to that of the reciprocal deletion, but the variance in the duplication is significantly higher, with severe and mild subgroups not observed with the deletion. These results suggest that additional genetic and familial factors contribute to this variability. Additional studies will be necessary to characterize the predictors of cognitive deficits.

Published
2016

46. DEEP WOODS DEER HUNTING.

Author

BERNIER, R. G.

Subjects
WHITE-tailed deer hunting, DEER hunting, BIG game hunting, DEER hunters, FORESTS & forestry, HOME range (Animal geography)
Abstract

The article discusses tactics for hunting big, white-tailed deer in mature woodlands. Topics covered include the challenges faced in hunting the big woods, the resurgence of doe population and the need to consider buck movement. It also discusses the role of weather and temperature conditions in any deer hunt.

Published
2021

47. The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism

Author

Vandeweyer, G., Helsmoortel, C., Dijck, A. Van, Silfhout, A.T. van, Coe, B.P., Bernier, R., Gerdts, J., Rooms, L., Ende, J. van den, Bakshi, M., Wilson, M., Nordgren, A., Hendon, L.G., Abdulrahman, O.A., Romano, C, Vries, B. de, Kleefstra, T., Eichler, E.E., Aa, N. van der, and Kooy, R.F.

Subjects
Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Neurodevelopmental disorders Radboud Institute for Molecular Life Sciences [Radboudumc 7]
Abstract

Contains fulltext : 137084.pdf (Publisher’s version ) (Closed access)

Published
2014

50. The DIRC front-end electronics chain for BaBar

Author

Bailly, P., Chauveau, J., Buono, L.Del, Genat, J.F., Lebbolo, H., Roos, L., Zhang, B., Beigbeder, C., Bernier, R., Breton, D., Caceres, T., Chase, R., Ducorps, A., Hrisoho, A., Imbert, P., Sen, S., Tocut, V., Truong, K., Wormser, G., Zomer, F., Bonneaud, G., Dohou, F., Gastaldi, F., Matricon, P., Renard, C., Thiebaux, C., Vasileiadis, G., Verderi, M., Oxoby, G., Va'Vra, J., Warner, D., and Wilson, R.J.

Published
1999
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