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87 results on '"Brunner, Han G"'

1. Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Author: Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Havrylenko, Svitlana, Izem, Katia, Rigour, Fanny, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Allamand, Valérie, 't Hoen, Peter A C, Nelson, Isabelle, Yaou, Rabah Ben, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Vitobello, Antonio, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Kremlik, Vlastimil, Parkinson, Helen, Keane, Thomas, Senf, Alexander, Robinson, Peter, Danis, Daniel, Robert, Glenn, Schulze-Hentrich, Julia M, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Riess, Olaf, Baets, Jonathan, Van de Vondel, Liedewei, Beijer, Danique, de Jonghe, Peter, Nigro, Vincenzo, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Brunner, Han G, Selvatici, Rita, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, Brookes, Anthony J, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A, Johansson, Lennart, van der Velde, Joeri K, Rath, Ana, van der Vries, Gerben, Neerincx, Pieter B, Roelofs-Prins, Dieuwke, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Rooryck, Caroline, Trimouille, Aurelien, Castello, Raffaele, Bonne, Gisèle, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, de la Rosa, F Javier Alonso García, Ciolfi, Andrea, Dallapiccola, Bruno, Gumus, Gulcin, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Benetti, Elisa, Balicza, Peter, Molnar, Maria Judit, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Vissers, Lisenka E L M, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, Macaya, Alfons, Marcé-Grau, Anna, Osorio, Andres Nascimiento, de Benito, Daniel Natera, Lochmüller, Hanns, Thompson, Rachel, Polavarapu, Kiran, Hoogerbrugge, Nicoline, Beeson, David, Cossins, Judith, Cruz, Pedro M Rodriguez, Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Horvath, Rita, Capella, Gabriel, Valle, Laura, Evangelista, Teresinha, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas, Harmuth, Tina, Swertz, Morris, Spalding, Dylan, Hoischen, Alexander, Beltran, Sergi, Graessner, Holm, consortium, Solve-RD, Schüle-Freyer, Rebecca, Haack, Tobias B, Demidov, German, Sturm, Marc, Kessler, Christoph, Wayand, Melanie, Wilke, Carlo, Traschütz, Andreas, Synofzik, Matthis, Schöls, Ludger, Hengel, Holger, Heutink, Peter, Brunner, Han, Scheffer, Hans, Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M, Kamsteeg, Erik-Jan, van de Warrenburg, Bart, Töpf, Ana, van Os, Nienke, Te Paske, Iris, Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Banka, Siddharth, Laurie, Steven, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Matalonga, Leslie, Pélissier, Aurore, Gut, Ivo Glynne, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Garcia, Carles, Gilissen, Christian, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Bros-Facer, Virginie, Hanauer, Marc, Olry, Annie, and Lagorce, David
Subjects: Data sharing, Information retrieval, Pan european, Computer science, Published Erratum, Genetics, MEDLINE, ddc:610, Genetics (clinical)
Published: 2021
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2. Genome sequencing identifies major causes of severe intellectual disability

Author: Gilissen, Christian, Hehir-Kwa, Jayne Y., Thung, Djie Tjwan, van de Vorst, Maartje, van Bon, Bregje W.M., Willemsen, Marjolein H., Kwint, Michael, Janssen, Irene M., Hoischen, Alexander, Schenck, Annette, Leach, Richard, Klein, Robert, Tearle, Rick, Bo, Tan, Pfundt, Rolph, Yntema, Helger G., de Vries, Bert B.A., Kleefstra, Tjitske, Brunner, Han G., Vissers, Lisenka E.L.M., and Veltman, Joris A.
Subjects: Nucleotide sequencing -- Physiological aspects -- Methods, Gene mutations -- Identification and classification, Mental retardation -- Causes of -- Genetic aspects, DNA sequencing -- Physiological aspects -- Methods, Genetic variation -- Identification and classification, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract: Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely genetic in origin (1,2). The extensive genetic heterogeneity of this disorder requires a genome-wide detection of all types of genetic variation. Microarray studies and, more recently, exome sequencing have demonstrated the importance of de novo copy number variations (CNVs) and single-nucleotide variations (SNVs) in ID, but the majority of cases remain undiagnosed (3-6). Here we applied whole-genome sequencing to 50 patients with severe ID and their unaffected parents. All patients included had not received a molecular diagnosis after extensive genetic prescreening, including microarray-based CNV studies and exome sequencing. Notwithstanding this prescreening, 84 denovo SNVs affecting the coding region were identified, which showed a statistically significant enrichment of loss-of-function mutations as well as an enrichment for genes previously implicated in ID-related disorders. In addition, we identified eight denovo CNVs, including single-exon and intra-exonic deletions, as well as interchromosomal duplications. These CNVs affected known ID genes more frequently than expected. On the basis of diagnostic interpretation of all de novo variants, a conclusive genetic diagnosis was reached in 20 patients. Together with one compound heterozygous CNV causing disease in a recessive mode, this results in a diagnostic yield of 42% in this extensively studied cohort, and 62% as a cumulative estimate in an unselected cohort. These results suggest that denovo SNVs and CNVs affecting the coding region are a major cause of severe ID. Genome sequencing can be applied as a single genetic test to reliably identify and characterize the comprehensive spectrum of genetic variation, providing a genetic diagnosis in the majority of patients with severe ID., Whole-genome sequencing (WGS) is considered to be the most comprehensive genetic test so far (7), but widespread application to patient diagnostics has been hampered by challenges in data analysis, the [...]
Published: 2014

3. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author: 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., and Campeau, Philippe M.
Subjects: Male, Models, Molecular, Developmental Disabilities, Gene Expression, General Physics and Astronomy, 02 engineering and technology, Chromatin remodelling, Sociology, lcsh:Science, Independent research, Adenosine Triphosphatases, 0303 health sciences, Multidisciplinary, biology, Health innovation, Disease genetics, Published Erratum, Neurodevelopmental disorders, 021001 nanoscience & nanotechnology, Spelling, 3. Good health, Phenotype, General partnership, Child, Preschool, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Female, medicine.symptom, Construct (philosophy), 0210 nano-technology, Psychology, Mi-2 Nucleosome Remodeling and Deacetylase Complex, Clinical epigenetics, Genotype, Science, Mutation, Missense, Library science, Child health, Speech Disorders, General Biochemistry, Genetics and Molecular Biology, Domain (software engineering), 03 medical and health sciences, Protein Domains, Intellectual Disability, medicine, Humans, Author Correction, 030304 developmental biology, Research ethics, Language Disorders, Whole Genome Sequencing, Core Grant, Macrocephaly, DNA Helicases, Helicase, General Chemistry, Chromatin Assembly and Disassembly, Megalencephaly, HEK293 Cells, biology.protein, lcsh:Q, Neuroscience, Impaired speech
Abstract: An Author Correction to this article was published on 15 February 2019 An Author Correction to this article was published on 02 May 2019 We thank all individuals and families for their contribution. We thank Amaia Carrion Castillo and Else Eising for assistance with the WGS analysis of the index individual, and Sarah Graham and Elliot Sollis for cloning the wild-type CHD3 construct for immunofluorescence. This work was supported by the Netherlands Organization for Scientific Research (NWO) Gravitation Grant 24.001.006 to the Language in Interaction Consortium (L.S.B., S.E.F., and H.G.B.), the Max Planck Society (S.E.F.), the National Institute on Deafness and Other Communication Disorders Grant DC000496 (L.Sh.) and a core grant to the Waisman Center from the National Institute of Child Health and Human Development (Grant U54 HD090256) to L.Sh., the Canadian Institutes of Health Research Grants MOP-119595 and PJT-148830 to W.T.G. Individuals 11, 16, 24, and 28 were part of The DDD Study cohort. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund [Grant number HICF-1009-003], a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute [Grant number 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 DDD study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12, granted by the Republic of Ireland REC). The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network.
Published: 2019
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4. Genetic architecture of subcortical brain structures in 38,851 individuals

Author: Satizabal, Claudia L., Adams, Hieab H.H., Hibar, Derrek P., White, Charles C., Knol, Maria J, Stein, Jason L, Scholz, Markus, Sargurupremraj, Muralidharan, Jahanshad, Neda, Roshchupkin, Gennady V, Smith, Albert V, Bis, Joshua C, Jian, Xueqiu, Luciano, Michelle, Hofer, Edith, Teumer, Alexander, van der Lee, Sven J, Yang, Jingyun, Yanek, Lisa R, Lee, Tom V, Li, Shuo, Hu, Yanhui, Koh, Jia Yu, Eicher, John D, Desrivières, Sylvane, Arias-Vasquez, Alejandro, Chauhan, Ganesh, Athanasiu, Lavinia, Rentería, Miguel E, Kim, Sungeun, Hoehn, David, Armstrong, Nicola J, Chen, Qiang, Holmes, Avram J, den Braber, Anouk, Kloszewska, Iwona, Andersson, Micael, Espeseth, Thomas, Grimm, Oliver, Abramovic, Lucija, Alhusaini, Saud, Milaneschi, Yuri, Papmeyer, Martina, Axelsson, Tomas, Ehrlich, Stefan, Roiz-Santiañez, Roberto, Kraemer, Bernd, Håberg, Asta K, Jones, Hannah J, Pike, G Bruce, Stein, Dan J, Stevens, Allison, Bralten, Janita, Vernooij, Meike W, Harris, Tamara B, Filippi, Irina, Witte, A Veronica, Guadalupe, Tulio, Wittfeld, Katharina, Mosley, Thomas H, Becker, James T, Doan, Nhat Trung, Hagenaars, Saskia P, Saba, Yasaman, Cuellar-Partida, Gabriel, Amin, Najaf, Hilal, Saima, Nho, Kwangsik, Mirza-Schreiber, Nazanin, Arfanakis, Konstantinos, Becker, Diane M, Ames, David, Goldman, Aaron L, Lee, Phil H, Boomsma, Dorret I, Lovestone, Simon, Giddaluru, Sudheer, Le Hellard, Stephanie, Mattheisen, Manuel, Bohlken, Marc M, Kasperaviciute, Dalia, Schmaal, Lianne, Lawrie, Stephen M, Agartz, Ingrid, Walton, Esther, Tordesillas-Gutierrez, Diana, Davies, Gareth E, Shin, Jean, Ipser, Jonathan C, Vinke, Louis N, Hoogman, Martine, Jia, Tianye, Burkhardt, Ralph, Klein, Marieke, Crivello, Fabrice, Janowitz, Deborah, Carmichael, Owen, Haukvik, Unn K, Aribisala, Benjamin S, Schmidt, Helena, Strike, Lachlan T, Cheng, Ching-Yu, Risacher, Shannon L, Pütz, Benno, Fleischman, Debra A, Assareh, Amelia A, Mattay, Venkata S, Buckner, Randy L, Mecocci, Patrizia, Dale, Anders M, Cichon, Sven, Boks, Marco P, Matarin, Mar, Penninx, Brenda W J H, Calhoun, Vince D, Chakravarty, M Mallar, Marquand, Andre F, Macare, Christine, Kharabian Masouleh, Shahrzad, Oosterlaan, Jaap, Amouyel, Philippe, Hegenscheid, Katrin, Rotter, Jerome I, Schork, Andrew J, Liewald, David C M, de Zubicaray, Greig I, Wong, Tien Yin, Shen, Li, Sämann, Philipp G, Brodaty, Henry, Roffman, Joshua L, de Geus, Eco J C, Tsolaki, Magda, Erk, Susanne, van Eijk, Kristel R, Cavalleri, Gianpiero L, van der Wee, Nic J A, McIntosh, Andrew M, Gollub, Randy L, Bulayeva, Kazima B, Bernard, Manon, Richards, Jennifer S, Himali, Jayandra J, Loeffler, Markus, Rommelse, Nanda, Hoffmann, Wolfgang, Westlye, Lars T, Valdés Hernández, Maria C, Hansell, Narelle K, van Erp, Theo G M, Wolf, Christiane, Kwok, John B J, Vellas, Bruno, Heinz, Andreas, Olde Loohuis, Loes M, Delanty, Norman, Ho, Beng-Choon, Ching, Christopher R K, Shumskaya, Elena, Singh, Baljeet, Hofman, Albert, van der Meer, Dennis, Homuth, Georg, Psaty, Bruce M, Bastin, Mark E, Montgomery, Grant W, Foroud, Tatiana M, Reppermund, Simone, Hottenga, Jouke-Jan, Simmons, Andrew, Meyer-Lindenberg, Andreas, Cahn, Wiepke, Whelan, Christopher D, van Donkelaar, Marjolein M J, Yang, Qiong, Hosten, Norbert, Green, Robert C, Thalamuthu, Anbupalam, Mohnke, Sebastian, Hulshoff Pol, Hilleke E, Lin, Honghuang, Jack, Clifford R, Schofield, Peter R, Mühleisen, Thomas W, Maillard, Pauline, Potkin, Steven G, Wen, Wei, Fletcher, Evan, Toga, Arthur W, Gruber, Oliver, Huentelman, Matthew, Davey Smith, George, Launer, Lenore J, Nyberg, Lars, Jönsson, Erik G, Crespo-Facorro, Benedicto, Koen, Nastassja, Greve, Douglas N, Uitterlinden, André G, Weinberger, Daniel R, Steen, Vidar M, Fedko, Iryna O, Groenewold, Nynke A, Niessen, Wiro J, Toro, Roberto, Tzourio, Christophe, Longstreth, William T, Ikram, M Kamran, Smoller, Jordan W, van Tol, Marie-Jose, Sussmann, Jessika E, Paus, Tomas, Lemaître, Hervé, Schroeter, Matthias L, Mazoyer, Bernard, Andreassen, Ole A, Holsboer, Florian, Depondt, Chantal, Veltman, Dick J, Turner, Jessica A, Pausova, Zdenka, Schumann, Gunter, van Rooij, Daan, Djurovic, Srdjan, Deary, Ian J, McMahon, Katie L, Müller-Myhsok, Bertram, Brouwer, Rachel M, Soininen, Hilkka, Pandolfo, Massimo, Wassink, Thomas H, Cheung, Joshua W, Wolfers, Thomas, Martinot, Jean-Luc, Zwiers, Marcel P, Nauck, Matthias, Melle, Ingrid, Martin, Nicholas G, Kanai, Ryota, Westman, Eric, Kahn, René S, Sisodiya, Sanjay M, White, Tonya, Saremi, Arvin, van Bokhoven, Hans, Brunner, Han G, Völzke, Henry, Wright, Margaret J, van 't Ent, Dennis, Nöthen, Markus M, Ophoff, Roel A, Buitelaar, Jan K, Fernández, Guillén, Sachdev, Perminder S, Rietschel, Marcella, van Haren, Neeltje E M, Fisher, Simon E, Beiser, Alexa S, Francks, Clyde, Saykin, Andrew J, Mather, Karen A, Romanczuk-Seiferth, Nina, Hartman, Catharina A, DeStefano, Anita L, Heslenfeld, Dirk J, Weiner, Michael W, Walter, Henrik, Hoekstra, Pieter J, Nyquist, Paul A, Franke, Barbara, Bennett, David A, Grabe, Hans J, Johnson, Andrew D, Chen, Christopher, van Duijn, Cornelia M, Lopez, Oscar L, Fornage, Myriam, Wardlaw, Joanna M, Schmidt, Reinhold, DeCarli, Charles, De Jager, Philip L, Villringer, Arno, Debette, Stéphanie, Gudnason, Vilmundur, Medland, Sarah E, Shulman, Joshua M, Thompson, Paul M, Seshadri, Sudha, Ikram, M Arfan, Satizabal, Claudia L., Adams, Hieab H.H., Hibar, Derrek P., White, Charles C., Knol, Maria J, Stein, Jason L, Scholz, Markus, Sargurupremraj, Muralidharan, Jahanshad, Neda, Roshchupkin, Gennady V, Smith, Albert V, Bis, Joshua C, Jian, Xueqiu, Luciano, Michelle, Hofer, Edith, Teumer, Alexander, van der Lee, Sven J, Yang, Jingyun, Yanek, Lisa R, Lee, Tom V, Li, Shuo, Hu, Yanhui, Koh, Jia Yu, Eicher, John D, Desrivières, Sylvane, Arias-Vasquez, Alejandro, Chauhan, Ganesh, Athanasiu, Lavinia, Rentería, Miguel E, Kim, Sungeun, Hoehn, David, Armstrong, Nicola J, Chen, Qiang, Holmes, Avram J, den Braber, Anouk, Kloszewska, Iwona, Andersson, Micael, Espeseth, Thomas, Grimm, Oliver, Abramovic, Lucija, Alhusaini, Saud, Milaneschi, Yuri, Papmeyer, Martina, Axelsson, Tomas, Ehrlich, Stefan, Roiz-Santiañez, Roberto, Kraemer, Bernd, Håberg, Asta K, Jones, Hannah J, Pike, G Bruce, Stein, Dan J, Stevens, Allison, Bralten, Janita, Vernooij, Meike W, Harris, Tamara B, Filippi, Irina, Witte, A Veronica, Guadalupe, Tulio, Wittfeld, Katharina, Mosley, Thomas H, Becker, James T, Doan, Nhat Trung, Hagenaars, Saskia P, Saba, Yasaman, Cuellar-Partida, Gabriel, Amin, Najaf, Hilal, Saima, Nho, Kwangsik, Mirza-Schreiber, Nazanin, Arfanakis, Konstantinos, Becker, Diane M, Ames, David, Goldman, Aaron L, Lee, Phil H, Boomsma, Dorret I, Lovestone, Simon, Giddaluru, Sudheer, Le Hellard, Stephanie, Mattheisen, Manuel, Bohlken, Marc M, Kasperaviciute, Dalia, Schmaal, Lianne, Lawrie, Stephen M, Agartz, Ingrid, Walton, Esther, Tordesillas-Gutierrez, Diana, Davies, Gareth E, Shin, Jean, Ipser, Jonathan C, Vinke, Louis N, Hoogman, Martine, Jia, Tianye, Burkhardt, Ralph, Klein, Marieke, Crivello, Fabrice, Janowitz, Deborah, Carmichael, Owen, Haukvik, Unn K, Aribisala, Benjamin S, Schmidt, Helena, Strike, Lachlan T, Cheng, Ching-Yu, Risacher, Shannon L, Pütz, Benno, Fleischman, Debra A, Assareh, Amelia A, Mattay, Venkata S, Buckner, Randy L, Mecocci, Patrizia, Dale, Anders M, Cichon, Sven, Boks, Marco P, Matarin, Mar, Penninx, Brenda W J H, Calhoun, Vince D, Chakravarty, M Mallar, Marquand, Andre F, Macare, Christine, Kharabian Masouleh, Shahrzad, Oosterlaan, Jaap, Amouyel, Philippe, Hegenscheid, Katrin, Rotter, Jerome I, Schork, Andrew J, Liewald, David C M, de Zubicaray, Greig I, Wong, Tien Yin, Shen, Li, Sämann, Philipp G, Brodaty, Henry, Roffman, Joshua L, de Geus, Eco J C, Tsolaki, Magda, Erk, Susanne, van Eijk, Kristel R, Cavalleri, Gianpiero L, van der Wee, Nic J A, McIntosh, Andrew M, Gollub, Randy L, Bulayeva, Kazima B, Bernard, Manon, Richards, Jennifer S, Himali, Jayandra J, Loeffler, Markus, Rommelse, Nanda, Hoffmann, Wolfgang, Westlye, Lars T, Valdés Hernández, Maria C, Hansell, Narelle K, van Erp, Theo G M, Wolf, Christiane, Kwok, John B J, Vellas, Bruno, Heinz, Andreas, Olde Loohuis, Loes M, Delanty, Norman, Ho, Beng-Choon, Ching, Christopher R K, Shumskaya, Elena, Singh, Baljeet, Hofman, Albert, van der Meer, Dennis, Homuth, Georg, Psaty, Bruce M, Bastin, Mark E, Montgomery, Grant W, Foroud, Tatiana M, Reppermund, Simone, Hottenga, Jouke-Jan, Simmons, Andrew, Meyer-Lindenberg, Andreas, Cahn, Wiepke, Whelan, Christopher D, van Donkelaar, Marjolein M J, Yang, Qiong, Hosten, Norbert, Green, Robert C, Thalamuthu, Anbupalam, Mohnke, Sebastian, Hulshoff Pol, Hilleke E, Lin, Honghuang, Jack, Clifford R, Schofield, Peter R, Mühleisen, Thomas W, Maillard, Pauline, Potkin, Steven G, Wen, Wei, Fletcher, Evan, Toga, Arthur W, Gruber, Oliver, Huentelman, Matthew, Davey Smith, George, Launer, Lenore J, Nyberg, Lars, Jönsson, Erik G, Crespo-Facorro, Benedicto, Koen, Nastassja, Greve, Douglas N, Uitterlinden, André G, Weinberger, Daniel R, Steen, Vidar M, Fedko, Iryna O, Groenewold, Nynke A, Niessen, Wiro J, Toro, Roberto, Tzourio, Christophe, Longstreth, William T, Ikram, M Kamran, Smoller, Jordan W, van Tol, Marie-Jose, Sussmann, Jessika E, Paus, Tomas, Lemaître, Hervé, Schroeter, Matthias L, Mazoyer, Bernard, Andreassen, Ole A, Holsboer, Florian, Depondt, Chantal, Veltman, Dick J, Turner, Jessica A, Pausova, Zdenka, Schumann, Gunter, van Rooij, Daan, Djurovic, Srdjan, Deary, Ian J, McMahon, Katie L, Müller-Myhsok, Bertram, Brouwer, Rachel M, Soininen, Hilkka, Pandolfo, Massimo, Wassink, Thomas H, Cheung, Joshua W, Wolfers, Thomas, Martinot, Jean-Luc, Zwiers, Marcel P, Nauck, Matthias, Melle, Ingrid, Martin, Nicholas G, Kanai, Ryota, Westman, Eric, Kahn, René S, Sisodiya, Sanjay M, White, Tonya, Saremi, Arvin, van Bokhoven, Hans, Brunner, Han G, Völzke, Henry, Wright, Margaret J, van 't Ent, Dennis, Nöthen, Markus M, Ophoff, Roel A, Buitelaar, Jan K, Fernández, Guillén, Sachdev, Perminder S, Rietschel, Marcella, van Haren, Neeltje E M, Fisher, Simon E, Beiser, Alexa S, Francks, Clyde, Saykin, Andrew J, Mather, Karen A, Romanczuk-Seiferth, Nina, Hartman, Catharina A, DeStefano, Anita L, Heslenfeld, Dirk J, Weiner, Michael W, Walter, Henrik, Hoekstra, Pieter J, Nyquist, Paul A, Franke, Barbara, Bennett, David A, Grabe, Hans J, Johnson, Andrew D, Chen, Christopher, van Duijn, Cornelia M, Lopez, Oscar L, Fornage, Myriam, Wardlaw, Joanna M, Schmidt, Reinhold, DeCarli, Charles, De Jager, Philip L, Villringer, Arno, Debette, Stéphanie, Gudnason, Vilmundur, Medland, Sarah E, Shulman, Joshua M, Thompson, Paul M, Seshadri, Sudha, and Ikram, M Arfan
Abstract: Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.
Published: 2019

5. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author: Blok, Lot Snijders, 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, Andre, 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, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faive, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M., Blok, Lot Snijders, 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, Andre, 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, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faive, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., and Campeau, Philippe M.
Published: 2018

6. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Author: Jansen, Sandra, Hoischen, Alexander, Coe, Bradley P, Carvill, Gemma L, Van Esch, Hilde, Bosch, Daniëlle G M, Andersen, Ulla A, Baker, Carl, Bauters, Marijke, Bernier, Raphael A, van Bon, Bregje W, Claahsen-van der Grinten, Hedi L, Gecz, Jozef, Gilissen, Christian, Grillo, Lucia, Hackett, Anna, Kleefstra, Tjitske, Koolen, David, Kvarnung, Malin, Larsen, Martin J, Marcelis, Carlo, McKenzie, Fiona, Monin, Marie-Lorraine, Nava, Caroline, Schuurs-Hoeijmakers, Janneke H, Pfundt, Rolph, Steehouwer, Marloes, Stevens, Servi J C, Stumpel, Connie T, Vansenne, Fleur, Vinci, Mirella, van de Vorst, Maartje, Vries, Petra de, Witherspoon, Kali, Veltman, Joris A, Brunner, Han G, Mefford, Heather C, Romano, Corrado, Vissers, Lisenka E L M, Eichler, Evan E, de Vries, Bert B A, Jansen, Sandra, Hoischen, Alexander, Coe, Bradley P, Carvill, Gemma L, Van Esch, Hilde, Bosch, Daniëlle G M, Andersen, Ulla A, Baker, Carl, Bauters, Marijke, Bernier, Raphael A, van Bon, Bregje W, Claahsen-van der Grinten, Hedi L, Gecz, Jozef, Gilissen, Christian, Grillo, Lucia, Hackett, Anna, Kleefstra, Tjitske, Koolen, David, Kvarnung, Malin, Larsen, Martin J, Marcelis, Carlo, McKenzie, Fiona, Monin, Marie-Lorraine, Nava, Caroline, Schuurs-Hoeijmakers, Janneke H, Pfundt, Rolph, Steehouwer, Marloes, Stevens, Servi J C, Stumpel, Connie T, Vansenne, Fleur, Vinci, Mirella, van de Vorst, Maartje, Vries, Petra de, Witherspoon, Kali, Veltman, Joris A, Brunner, Han G, Mefford, Heather C, Romano, Corrado, Vissers, Lisenka E L M, Eichler, Evan E, and de Vries, Bert B A
Published: 2018

7. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author: Genetica Klinische Genetica, Brain, MS Gynaecologische Oncologie, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Child Health, Blok, Lot Snijders, 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, Andre, 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, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faive, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M., Genetica Klinische Genetica, Brain, MS Gynaecologische Oncologie, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Child Health, Blok, Lot Snijders, 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, Andre, 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, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faive, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., and Campeau, Philippe M.
Published: 2018

8. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Author: Genetica Klinische Genetica, Jansen, Sandra, Hoischen, Alexander, Coe, Bradley P, Carvill, Gemma L, Van Esch, Hilde, Bosch, Daniëlle G M, Andersen, Ulla A, Baker, Carl, Bauters, Marijke, Bernier, Raphael A, van Bon, Bregje W, Claahsen-van der Grinten, Hedi L, Gecz, Jozef, Gilissen, Christian, Grillo, Lucia, Hackett, Anna, Kleefstra, Tjitske, Koolen, David, Kvarnung, Malin, Larsen, Martin J, Marcelis, Carlo, McKenzie, Fiona, Monin, Marie-Lorraine, Nava, Caroline, Schuurs-Hoeijmakers, Janneke H, Pfundt, Rolph, Steehouwer, Marloes, Stevens, Servi J C, Stumpel, Connie T, Vansenne, Fleur, Vinci, Mirella, van de Vorst, Maartje, Vries, Petra de, Witherspoon, Kali, Veltman, Joris A, Brunner, Han G, Mefford, Heather C, Romano, Corrado, Vissers, Lisenka E L M, Eichler, Evan E, de Vries, Bert B A, Genetica Klinische Genetica, Jansen, Sandra, Hoischen, Alexander, Coe, Bradley P, Carvill, Gemma L, Van Esch, Hilde, Bosch, Daniëlle G M, Andersen, Ulla A, Baker, Carl, Bauters, Marijke, Bernier, Raphael A, van Bon, Bregje W, Claahsen-van der Grinten, Hedi L, Gecz, Jozef, Gilissen, Christian, Grillo, Lucia, Hackett, Anna, Kleefstra, Tjitske, Koolen, David, Kvarnung, Malin, Larsen, Martin J, Marcelis, Carlo, McKenzie, Fiona, Monin, Marie-Lorraine, Nava, Caroline, Schuurs-Hoeijmakers, Janneke H, Pfundt, Rolph, Steehouwer, Marloes, Stevens, Servi J C, Stumpel, Connie T, Vansenne, Fleur, Vinci, Mirella, van de Vorst, Maartje, Vries, Petra de, Witherspoon, Kali, Veltman, Joris A, Brunner, Han G, Mefford, Heather C, Romano, Corrado, Vissers, Lisenka E L M, Eichler, Evan E, and de Vries, Bert B A
Published: 2018

9. Identification of common variants associated with human hippocampal and intracranial volumes

Author: Stein, Jason L, Medland, Sarah E, Bernard, Manon, Nauck, Matthias, Nöthen, Markus M., Olvera, Rene L, Pandolfo, Massimo, Pike, G Bruce, Puls, Ralf, Reinvang, Ivar, Rentería, Miguel E, Rietschel, Marcella, Roffman, Joshua L, Brown, Andrew A, Royle, Natalie A, Rujescu, Dan, Savitz, Jonathan, Schnack, Hugo G, Schnell, Knut, Seiferth, Nina, Smith, Colin, Steen, Vidar M, Valdés Hernández, Maria C, Van den Heuvel, Martijn, Cannon, Dara M, van der Wee, Nic J, Van Haren, Neeltje E M, Veltman, Joris A, Völzke, Henry, Walker, Robert, Westlye, Lars T, Whelan, Christopher D, Agartz, Ingrid, Boomsma, Dorret I, Cavalleri, Gianpiero L, Chakravarty, M Mallar, Dale, Anders M, Djurovic, Srdjan, Drevets, Wayne C, Hagoort, Peter, Hall, Jeremy, Heinz, Andreas, Jack, Clifford R, Foroud, Tatiana M, Le Hellard, Stephanie, Macciardi, Fabio, Christoforou, Andrea, Montgomery, Grant W, Poline, Jean Baptiste, Porteous, David J, Sisodiya, Sanjay M, Starr, John M, Sussmann, Jessika, Toga, Arthur W, Veltman, Dick J, Walter, Henrik, Weiner, Michael W, Domin, Martin, Initiative, Alzheimer's Disease Neuroimaging, Consortium, EPIGEN, Consortium, IMAGEN, Group, Saguenay Youth Study, Bis, Joshua C, Ikram, M Arfan, Smith, Albert V, Gudnason, Vilmundur, Tzourio, Christophe, Vernooij, Meike W, Grimm, Oliver, Launer, Lenore J, DeCarli, Charles, Seshadri, Sudha, Consortium, Cohorts for Heart and Aging Research in Genomic Epidemiology, Andreassen, Ole A, Apostolova, Liana G, Bastin, Mark E, Blangero, John, Brunner, Han G, Buckner, Randy L, Hollinshead, Marisa, Cichon, Sven, Coppola, Giovanni, de Zubicaray, Greig I, Deary, Ian J, Donohoe, Gary, de Geus, Eco J C, Espeseth, Thomas, Fernández, Guillén, Glahn, David C, Grabe, Hans J, Holmes, Avram J, Hardy, John, Hulshoff Pol, Hilleke E, Jenkinson, Mark, Kahn, René S, McDonald, Colm, McIntosh, Andrew M, McMahon, Francis J, McMahon, Katie L, Meyer-Lindenberg, Andreas, Morris, Derek W, Homuth, Georg, Müller-Myhsok, Bertram, Nichols, Thomas E, Ophoff, Roel A, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W, Potkin, Steven G, Sämann, Philipp G, Saykin, Andrew J, Schumann, Gunter, Vasquez, Alejandro Arias, Hottenga, Jouke-Jan, Smoller, Jordan W, Wardlaw, Joanna M, Weale, Michael E, Martin, Nicholas G, Franke, Barbara, Wright, Margaret J, Thompson, Paul M, Consortium, Enhancing Neuro Imaging Genetics through Meta-Analysis, Weiner, Michael, Aisen, Paul, Langan, Camilla, Petersen, Ronald, Jagust, William, Trojanowki, John Q, Beckett, Laurel, Green, Robert C, Morris, John, Liu, Enchi, Lopez, Lorna M, Montine, Tom, Gamst, Anthony, Thomas, Ronald G, Donohue, Michael, Walter, Sarah, Gessert, Devon, Sather, Tamie, Hansell, Narelle K, Harvey, Danielle, Kornak, John, Dale, Anders, Bernstein, Matthew, Felmlee, Joel, Fox, Nick, Hwang, Kristy S, Thompson, Paul, Schuff, Norbert, Alexander, Gene, Bandy, Dan, Koeppe, Robert A, Foster, Norm, Reiman, Eric M, Chen, Kewei, Mathis, Chet, Kim, Sungeun, Cairns, Nigel J, Taylor-Reinwald, Lisa, Trojanowki, J. Q., Shaw, Les, Lee, Virginia M Y, Korecka, Magdalena, Crawford, Karen, Neu, Scott, Laje, Gonzalo, Potkin, Steven, Shen, Li, Kachaturian, Zaven, Frank, Richard, Snyder, Peter J, Molchan, Susan, Kaye, Jeffrey, Quinn, Joseph, Lee, Phil H, Lind, Betty, Dolen, Sara, Schneider, Lon S, Pawluczyk, Sonia, Spann, Bryan M, Brewer, James, Vanderswag, Helen, Heidebrink, Judith L, Lord, Joanne L, Liu, Xinmin, Johnson, Kris, Doody, Rachelle S, Villanueva-Meyer, Javier, Chowdhury, Munir, Stern, Yaakov, Honig, Lawrence S, Bell, Karen L, Morris, John C, Ances, Beau, Carroll, Maria, Loth, Eva, Leon, Sue, Mintun, Mark A, Schneider, Stacy, Marson, Daniel, Griffith, Randall, Clark, David, Grossman, Hillel, Mitsis, Effie, Romirowsky, Aliza, deToledo-Morrell, Leyla, Hibar, Derrek P, Lourdusamy, Anbarasu, Shah, Raj C, Duara, Ranjan, Varon, Daniel, Roberts, Peggy, Albert, Marilyn, Onyike, Chiadi, Kielb, Stephanie, Rusinek, Henry, de Leon, Mony J, Glodzik, Lidia, Mattingsdal, Morten, De Santi, Susan, Doraiswamy, P Murali, Petrella, Jeffrey R, Coleman, R Edward, Arnold, Steven E, Karlawish, Jason H, Wolk, David, Smith, Charles D, Jicha, Greg, Hardy, Peter, Mohnke, Sebastian, Lopez, Oscar L, Oakley, MaryAnn, Simpson, Donna M, Porsteinsson, Anton P, Goldstein, Bonnie S, Martin, Kim, Makino, Kelly M, Ismail, M Saleem, Mulnard, Ruth A, Thai, Gaby, Maniega, Susana Muñoz, Mc-Adams-Ortiz, Catherine, Womack, Kyle, Mathews, Dana, Quiceno, Mary, Diaz-Arrastia, Ramon, King, Richard, Weiner, Myron, Martin-Cook, Kristen, DeVous, Michael, Levey, Allan I, Nho, Kwangsik, Lah, James J, Cellar, Janet S, Burns, Jeffrey M, Anderson, Heather S, Swerdlow, Russell H, Apostolova, Liana, Lu, Po H, Bartzokis, George, Silverman, Daniel H S, Graff-Radford, Neill R, Nugent, Allison C, Parfitt, Francine, Johnson, Heather, Farlow, Martin R, Hake, Ann Marie, Matthews, Brandy R, Herring, Scott, van Dyck, Christopher H, Carson, Richard E, MacAvoy, Martha G, Chertkow, Howard, O'Brien, Carol, Bergman, Howard, Hosei, Chris, Black, Sandra, Stefanovic, Bojana, Caldwell, Curtis, Hsiung, Ging-Yuek Robin, Feldman, Howard, Mudge, Benita, Assaly, Michele, Kertesz, Andrew, Papmeyer, Martina, Rogers, John, Trost, Dick, Bernick, Charles, Munic, Donna, Kerwin, Diana, Mesulam, Marek-Marsel, Lipowski, Kristina, Wu, Chuang-Kuo, Johnson, Nancy, Sadowsky, Carl, Pütz, Benno, Martinez, Walter, Villena, Teresa, Turner, Raymond Scott, Johnson, Kathleen, Reynolds, Brigid, Sperling, Reisa A, Johnson, Keith A, Marshall, Gad, Frey, Meghan, Yesavage, Jerome, Ramasamy, Adaikalavan, Taylor, Joy L, Lane, Barton, Rosen, Allyson, Tinklenberg, Jared, Sabbagh, Marwan, Belden, Christine, Jacobson, Sandra, Kowall, Neil, Killiany, Ronald, Budson, Andrew E, Senstad, Rudy E, Rasmussen, Jerod, Norbash, Alexander, Johnson, Patricia Lynn, Obisesan, Thomas O, Wolday, Saba, Bwayo, Salome K, Lerner, Alan, Hudson, Leon, Ogrocki, Paula, Fletcher, Evan, Carmichael, Owen, Rijpkema, Mark, Olichney, John, Kittur, Smita, Borrie, Michael, Lee, T-Y, Bartha, Rob, Johnson, Sterling, Asthana, Sanjay, Carlsson, Cynthia M, Risacher, Shannon L, Preda, Adrian, Nguyen, Dana, Tariot, Pierre, Fleisher, Adam, Reeder, Stephanie, Bates, Vernice, Capote, Horacio, Rainka, Michelle, Scharre, Douglas W, Kataki, Maria, Roddey, J Cooper, Zimmerman, Earl A, Celmins, Dzintra, Brown, Alice D, Pearlson, Godfrey D, Blank, Karen, Anderson, Karen, Santulli, Robert B, Schwartz, Eben S, Sink, Kaycee M, Rose, Emma J, Williamson, Jeff D, Garg, Pradeep, Watkins, Franklin, Ott, Brian R, Querfurth, Henry, Tremont, Geoffrey, Salloway, Stephen, Malloy, Paul, Correia, Stephen, Rosen, Howard J, Ryten, Mina, Miller, Bruce L, Mintzer, Jacobo, Longmire, Crystal Flynn, Spicer, Kenneth, Finger, Elizabeth, Rachinsky, Irina, Drost, Dick, Cavalleri, Gianpiero, Alhusaini, Saud, Delanty, Norman, Whelan, Christopher, Sisodiya, Sanjay, Kasperaviciute, Dalia, Matarin, Mar, Depondt, Chantal, Goldstein, David B, Heinzen, Erin L, Shianna, Kevin, Sprooten, Emma, Radtke, Rodney, Ottmann, Ruth, Sergievsky, G. H., Schumann, G., Conrod, P., Reed, L., Barker, G., Williams, S., Loth, E., Struve, M., Strengman, Eric, Lourdusamy, A., Cattrell, A., Nymberg, C., Topper, L., Smith, L., Havatzias, S., Stueber, K., Mallik, C., Stacey, D., Wong, C Peng, Teumer, Alexander, Werts, H., Andrew, C., Desrivieres, S., Heinz, A., Gallinat, J., Häke, I., Ivanov, N., Klär, A., Reuter, J., Winkler, Anderson M, Trabzuni, Daniah, Palafox, C., Hohmann, C., Schilling, C., Lüdemann, K., Romanowski, A., Ströhle, A., Wolff, E., Rapp, M., Ittermann, B., Brühl, R., Turner, Jessica, Ihlenfeld, A., Walaszek, B., Schubert, F., Garavan, H., Connolly, C., Jones, J., Lalor, E., McCabe, E., Ní Shiothcháin, A., Whelan, R., van Eijk, Kristel, Spanagel, R., Leonardi-Essmann, F., Sommer, W., Flor, H., Vollstaedt-Klein, S., Nees, F., Banaschewski, T., Poustka, L., Steiner, S., Mann, K., van Erp, Theo G M, Buehler, M., Rietschel, M., Stolzenburg, E., Schmal, C., Schirmbeck, F., Paus, T., Gowland, P., Heym, N., Lawrence, C., Newman, C., van Tol, Marie-Jose, Pausova, Z., Smolka, M., Huebner, T., Ripke, S., Mennigen, E., Muller, K., Ziesch, V., Büchel, C., Bromberg, U., Fadai, T., Wittfeld, Katharina, Lueken, L., Yacubian, J., Finsterbusch, J., Martinot, J. L., Artiges, E., Bordas, N., de Bournonville, S., Bricaud, Z., Gollier Briand, F., Lemaitre, H., Wolf, Christiane, Massicotte, J., Miranda, R., Paillère Martinot, M. L., Penttilä, J., Poline, J. B., Barbot, A., Schwartz, Y., Lalanne, C., Frouin, V., Thyreau, B., Woudstra, Saskia, Dalley, J., Mar, A., Robbins, T., Subramaniam, N., Theobald, D., Richmond, N., de Rover, M., Molander, A., Jordan, E., Robinson, E., Aleman, Andre, Hipolata, L., Moreno, M., Arroyo, M., Stephens, D., Ripley, T., Crombag, H., Pena, Y., Lathrop, M., Zelenika, D., Heath, S., Lanzerath, D., Heinrichs, B., Spranger, T., Fuchs, B., Speiser, C., Resch, F., Haffner, J., Parzer, P., Brunner, R., Klaassen, A., Toro, Roberto, Almasy, Laura, Klaassen, I., Constant, P., Mignon, X., Thomsen, T., Zysset, S., Vestboe, A., Ireland, J., Rogers, J., Binder, Elisabeth B, Chakravarty, Mallar, Smith, Albert Vernon, van der Lijn, Fedde, Crivello, Fabrice, Fornage, Myriam, Shulman, Joshua M, Brohawn, David G, Schmidt, Helena, Srikanth, Velandai, Schuur, Maaike, Yu, Lei, Choi, Seung-Hoan, Sigurdsson, Sigurdur, Verhaaren, Benjamin F J, DeStefano, Anita L, Lambert, Jean-Charles, Cantor, Rita M, Struchalin, Maksim, Stankovich, Jim, Ibrahim-Verbaas, Carla A, Fleischman, Debra, Zijdenbos, Alex, den Heijer, Tom, Mazoyer, Bernard, Coker, Laura H, Enzinger, Christian, Danoy, Patrick, Carless, Melanie A, Amin, Najaf, Arfanakis, Konstantinos, van Buchem, Mark A, de Bruijn, Renée F A G, Beiser, Alexa, Dufouil, Carole, Huang, Juebin, Cavalieri, Margherita, Thomson, Russell, Niessen, Wiro J, Corvin, Aiden, Chibnik, Lori B, Gislason, Gauti K, Hofman, Albert, Pikula, Aleksandra, Amouyel, Philippe, Freeman, Kevin B, Phan, Thanh G, Oostra, Ben A, Nalls, Michael A, Uitterlinden, Andre G, Czisch, Michael, Au, Rhoda, Elbaz, Alexis, Beare, Richard J, van Swieten, John C, Lopez, Oscar, Harris, Tamara B, Chouraki, Vincent, Breteler, Monique M B, De Jager, Philip L, Becker, James T, Curran, Joanne E, Knopman, David, Fazekas, Franz, Wolf, Philip A, van der Lugt, Aad, Longstreth, W. T., Brown, Mathew A, Bennett, David A, van Duijn, Cornelia M, Davies, Gail, Mosley, Thomas H, Schmidt, Reinhold, de Almeida, Marcio A A, Appel, Katja, Duggirala, Ravi, Dyer, Thomas D, Erk, Susanne, Fagerness, Jesen, Fox, Peter T, Freimer, Nelson B, Gill, Michael, Göring, Harald H H, Bartecek, Richard, Hagler, Donald J, Hoehn, David, Holsboer, Florian, Hoogman, Martine, Hosten, Norbert, Jahanshad, Neda, Johnson, Matthew P, Kent, Jack W, Kochunov, Peter, Bergmann, Ørjan, Lancaster, Jack L, Lawrie, Stephen M, Liewald, David C, Mandl, René, Mattheisen, Manuel, Meisenzahl, Eva, Melle, Ingrid, Moses, Eric K, Mühleisen, Thomas W, David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), University of California-University of California, Queensland Institute of Medical Research, Radboud University Medical Center [Nijmegen], Yale University School of Medicine, Génétique Humaine et Fonctions Cognitives, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Universität Greifswald - University of Greifswald, Universität Heidelberg [Heidelberg], University Medical Center [Utrecht], University of Oslo (UiO), University of Toronto, National University of Ireland [Galway] (NUI Galway), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada], University of Bergen (UiB), Harvard University [Cambridge], VU University Amsterdam, University of Edinburgh, Structure et Réactivité des Systèmes Moléculaires Complexes (SRSMC), Institut de Chimie du CNRS (INC)-Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], National Institutes of Health [Bethesda] (NIH), Department of Forensic and Neurodevelopmental Sciences, King‘s College London, Institute of Psychiatry, Psychology & Neuroscience, King's College London, Georgia State University, University System of Georgia (USG), Department of Psychiatry and Human Behavior [Irvine], University of California [Irvine] (UCI), Leiden University Medical Center (LUMC), Dundee Technopole, CXR Biosciences Ltd, University of Groningen [Groningen], Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland (RCSI), Department of Genetics, Southwest Foundation for Biomedical Research, Bijvoet Center of Biomolecular Research [Utrecht], Utrecht University [Utrecht], Neurology Division, Beaumont Hospital, Dublin 9, Ireland, Beaumont Hospital, The University of Texas Health Science Center at Houston (UTHealth), Center for Neurobehavioral Genetics, Max Planck Institute of Psychiatry, Max-Planck-Gesellschaft, Department of Computer Science, Durham University, Laboratoire des symbioses tropicales et méditerranéennes (UMR LSTM), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Université Montpellier 1 (UM1)-Institut de Recherche pour le Développement (IRD)-Institut National de la Recherche Agronomique (INRA)-Université Montpellier 2 - Sciences et Techniques (UM2)-Université de Montpellier (UM)-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), 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), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], University of California, Institute of Neurology [London], University College of London [London] (UCL), University of California [San Francisco] (UCSF), Department of Medicine, University of Washington [Seattle], Erasmus University Medical Center [Rotterdam] (Erasmus MC), Centre Émile Durkheim (CED), Sciences Po Bordeaux - Institut d'études politiques de Bordeaux (IEP Bordeaux)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Università degli Studi di Salermo, Università degli Studi di Salerno (UNISA), School of Psychology, University of Queensland, University of Queensland [Brisbane], Hartford Hospital, Lancaster University, Centre for Advanced Imaging, McConnell Brain Imaging Centre (MNI), McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], Stanley Center for Psychiatric Research, 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], Faculteit Medische Wetenschappen/UMCG, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Perceptual and Cognitive Neuroscience (PCN), Biological Psychology, Neuroscience Campus Amsterdam - Brain Imaging, EMGO+ - Mental Health, EPIGEN Consortium, IMAGENConsortium, Saguenay Youth Study Group, the Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) Consortium, Psychiatry, NCA - Brain Imaging, EMGO - Mental health, Vrije universiteit = Free university of Amsterdam [Amsterdam] (VU), Virology, Epidemiology, Clinical Chemistry, Erasmus MC other, Radiology & Nuclear Medicine, University of California (UC)-University of California (UC), Yale School of Medicine [New Haven, Connecticut] (YSM), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Universität Heidelberg [Heidelberg] = Heidelberg University, Harvard University, Vrije Universiteit Amsterdam [Amsterdam] (VU), University of California [Irvine] (UC Irvine), Universiteit Leiden, University of California (UC), University of California [San Francisco] (UC San Francisco), Università degli Studi di Salerno = University of Salerno (UNISA), University of Iceland [Reykjavik], McGill University, University of Bergen (UIB), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Bijvoet Center of Biomolecular Research, Charité - Universitätsmedizin Berlin / Charite - University Medicine Berlin, UMR5116, Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), and McGill University-McGill University
Subjects: Netherlands Twin Register (NTR), Pathology, 110 012 Social cognition of verbal communication, [SDV]Life Sciences [q-bio], Hippocampus, Genome-wide association study, DCN PAC - Perception action and control, Hippocampal formation, physiopathology [Brain], Bioinformatics, 0302 clinical medicine, 130 000 Cognitive Neurology & Memory, TEMPORAL-LOBE EPILEPSY, 110 014 Public activities, Renal disorder [IGMD 9], 0303 health sciences, medicine.diagnostic_test, Translational research Immune Regulation [ONCOL 3], Brain, Human brain, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], ALZHEIMERS-DISEASE, medicine.anatomical_structure, Brain size, genetics [Chromosomes, Human, Pair 12], genetics [Polymorphism, Single Nucleotide], Biomarker (medicine), NA+/H+ EXCHANGER, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Genetic Markers, medicine.medical_specialty, 110 000 Neurocognition of Language, DCN MP - Plasticity and memory, A neurocomputational model for the Processing of Linguistic Utterances based on the Unification-Space architecture [110 007 PLUS], BRAIN VOLUME, UNIFIED APPROACH, 110 013 Binding and the MUC-model, Neuroimaging, Biology, GENOTYPE IMPUTATION, Polymorphism, Single Nucleotide, Article, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], 03 medical and health sciences, AUTOMATED SEGMENTATION, Meta-Analysis as Topic, SDG 3 - Good Health and Well-being, ddc:570, FUNCTIONAL IMPLICATIONS, Genetics, medicine, Humans, GENOME-WIDE ASSOCIATION, 030304 developmental biology, Chromosomes, Human, Pair 12, Magnetic resonance imaging, Genetic Loci, physiopathology [Hippocampus], 110 009 The human brain and Chinese prosody, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], HUMAN HEIGHT, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract: Contains fulltext : 108202.pdf (Publisher’s version ) (Closed access) Identifying genetic variants influencing human brain structures may reveal new biological mechanisms underlying cognition and neuropsychiatric illness. The volume of the hippocampus is a biomarker of incipient Alzheimer's disease and is reduced in schizophrenia, major depression and mesial temporal lobe epilepsy. Whereas many brain imaging phenotypes are highly heritable, identifying and replicating genetic influences has been difficult, as small effects and the high costs of magnetic resonance imaging (MRI) have led to underpowered studies. Here we report genome-wide association meta-analyses and replication for mean bilateral hippocampal, total brain and intracranial volumes from a large multinational consortium. The intergenic variant rs7294919 was associated with hippocampal volume (12q24.22; N = 21,151; P = 6.70 x 10(-16)) and the expression levels of the positional candidate gene TESC in brain tissue. Additionally, rs10784502, located within HMGA2, was associated with intracranial volume (12q14.3; N = 15,782; P = 1.12 x 10(-12)). We also identified a suggestive association with total brain volume at rs10494373 within DDR2 (1q23.3; N = 6,500; P = 5.81 x 10(-7)). 01 mei 2012
Published: 2012
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10. Novel genetic loci associated with hippocampal volume

Author: Hibar, Derrek P, Adams, Hieab H H, Jahanshad, Neda, Chauhan, Ganesh, Stein, Jason L, Hofer, Edith, Renteria, Miguel E, Bis, Joshua C, Arias-Vasquez, Alejandro, Ikram, M Kamran, Desrivières, Sylvane, Vernooij, Meike W, Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S, Armstrong, Nicola J, Athanasiu, Lavinia, Axelsson, Tomas, Beecham, Ashley H, Beiser, Alexa, Bernard, Manon, Blanton, Susan H, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brickman, Adam M, Carmichael, Owen, Chakravarty, M Mallar, Chen, Qiang, Ching, Christopher R K, Chouraki, Vincent, Cuellar-Partida, Gabriel, Crivello, Fabrice, Den Braber, Anouk, Doan, Nhat Trung, Ehrlich, Stefan, Giddaluru, Sudheer, Goldman, Aaron L, Gottesman, Rebecca F, Grimm, Oliver, Griswold, Michael E, Guadalupe, Tulio, Gutman, Boris A, Hass, Johanna, Haukvik, Unn K, Hoehn, David, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Jørgensen, Kjetil N, Karbalai, Nazanin, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Liewald, David C M, Lopez, Lorna M, Luciano, Michelle, Macare, Christine, Marquand, Andre F, Matarin, Mar, Mather, Karen A, Mattheisen, Manuel, McKay, David R, Milaneschi, Yuri, Muñoz Maniega, Susana, Nho, Kwangsik, Nugent, Allison C, Nyquist, Paul, Loohuis, Loes M Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pirpamer, Lukas, Pütz, Benno, Ramasamy, Adaikalavan, Richards, Jennifer S, Risacher, Shannon L, Roiz-Santiañez, Roberto, Rommelse, Nanda, Ropele, Stefan, Rose, Emma J, Royle, Natalie A, Rundek, Tatjana, Sämann, Philipp G, Saremi, Arvin, Satizabal, Claudia L, Schmaal, Lianne, Schork, Andrew J, Shen, Li, Shin, Jean, Shumskaya, Elena, Smith, Albert V, Sprooten, Emma, Strike, Lachlan T, Teumer, Alexander, Tordesillas-Gutierrez, Diana, Toro, Roberto, Trabzuni, Daniah, Trompet, Stella, Vaidya, Dhananjay, Van der Grond, Jeroen, Van der Lee, Sven J, Van der Meer, Dennis, Van Donkelaar, Marjolein M J, Van Eijk, Kristel R, Van Erp, Theo G M, Van Rooij, Daan, Walton, Esther, Westlye, Lars T, Whelan, Christopher D, Windham, Beverly G, Winkler, Anderson M, Wittfeld, Katharina, Woldehawariat, Girma, Wolf, Christiane, Wolfers, Thomas, Yanek, Lisa R, Yang, Jingyun, Zijdenbos, Alex, Zwiers, Marcel P, Agartz, Ingrid, Almasy, Laura, Ames, David, Amouyel, Philippe, Andreassen, Ole A, Arepalli, Sampath, Assareh, Amelia A, Barral, Sandra, Bastin, Mark E, Becker, Diane M, Becker, James T, Bennett, David A, Blangero, John, van Bokhoven, Hans, Boomsma, Dorret I, Brodaty, Henry, Brouwer, Rachel M, Brunner, Han G, Buckner, Randy L, Buitelaar, Jan K, Bulayeva, Kazima B, Cahn, Wiepke, Calhoun, Vince D, Cannon, Dara M, Cavalleri, Gianpiero L, Cheng, Ching-Yu, Cichon, Sven, Cookson, Mark R, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Czisch, Michael, Dale, Anders M, Davies, Gareth E, De Craen, Anton J M, De Geus, Eco J C, De Jager, Philip L, De Zubicaray, Greig I, Deary, Ian J, Debette, Stéphanie, DeCarli, Charles, Delanty, Norman, Depondt, Chantal, DeStefano, Anita, Dillman, Allissa, Djurovic, Srdjan, Donohoe, Gary, Drevets, Wayne C, Duggirala, Ravi, Dyer, Thomas D, Enzinger, Christian, Erk, Susanne, Espeseth, Thomas, Fedko, Iryna O, Fernández, Guillén, Ferrucci, Luigi, Fisher, Simon E, Fleischman, Debra A, Ford, Ian, Fornage, Myriam, Foroud, Tatiana M, Fox, Peter T, Francks, Clyde, Fukunaga, Masaki, Gibbs, J Raphael, Glahn, David C, Gollub, Randy L, Göring, Harald H H, Green, Robert C, Gruber, Oliver, Gudnason, Vilmundur, Guelfi, Sebastian, Håberg, Asta K, Hansell, Narelle K, Hardy, John, Hartman, Catharina A, Hashimoto, Ryota, Hegenscheid, Katrin, Heinz, Andreas, Le Hellard, Stephanie, Hernandez, Dena G, Heslenfeld, Dirk J, Ho, Beng-Choon, Hoekstra, Pieter J, Hoffmann, Wolfgang, Hofman, Albert, Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Hottenga, Jouke-Jan, Huentelman, Matthew, Pol, Hilleke E Hulshoff, Ikeda, Masashi, Jack, Clifford R, Jenkinson, Mark, Johnson, Robert, Jönsson, Erik G, Jukema, J Wouter, Kahn, René S, Kanai, Ryota, Kloszewska, Iwona, Knopman, David S, Kochunov, Peter, Kwok, John B, Lawrie, Stephen M, Lemaître, Hervé, Liu, Xinmin, Longo, Dan L, Lopez, Oscar L, Lovestone, Simon, Martinez, Oliver, Martinot, Jean-Luc, Mattay, Venkata S, McDonald, Colm, McIntosh, Andrew M, McMahon, Francis J, McMahon, Katie L, Mecocci, Patrizia, Melle, Ingrid, Meyer-Lindenberg, Andreas, Mohnke, Sebastian, Montgomery, Grant W, Morris, Derek W, Mosley, Thomas H, Mühleisen, Thomas W, Müller-Myhsok, Bertram, Nalls, Michael A, Nauck, Matthias, Nichols, Thomas E, Niessen, Wiro J, Nöthen, Markus M, Nyberg, Lars, Ohi, Kazutaka, Olvera, Rene L, Ophoff, Roel A, Pandolfo, Massimo, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W J H, Pike, G Bruce, Potkin, Steven G, Psaty, Bruce M, Reppermund, Simone, Rietschel, Marcella, Roffman, Joshua L, Romanczuk-Seiferth, Nina, Rotter, Jerome I, Ryten, Mina, Sacco, Ralph L, Sachdev, Perminder S, Saykin, Andrew J, Schmidt, Reinhold, Schmidt, Helena, Schofield, Peter R, Sigursson, Sigurdur, Simmons, Andrew, Singleton, Andrew, Sisodiya, Sanjay M, Smith, Colin, Smoller, Jordan W, Soininen, Hilkka, Steen, Vidar M, Stott, David J, Sussmann, Jessika E, Thalamuthu, Anbupalam, Toga, Arthur W, Traynor, Bryan J, Troncoso, Juan, Tsolaki, Magda, Tzourio, Christophe, Uitterlinden, Andre G, Hernández, Maria C Valdés, Van der Brug, Marcel, van der Lugt, Aad, van der Wee, Nic J A, Van Haren, Neeltje E M, van 't Ent, Dennis, Van Tol, Marie-Jose, Vardarajan, Badri N, Vellas, Bruno, Veltman, Dick J, Völzke, Henry, Walter, Henrik, Wardlaw, Joanna M, Wassink, Thomas H, Weale, Michael E, Weinberger, Daniel R, Weiner, Michael W, Wen, Wei, Westman, Eric, White, Tonya, Wong, Tien Y, Wright, Clinton B, Zielke, Ronald H, Zonderman, Alan B, Martin, Nicholas G, Van Duijn, Cornelia M, Wright, Margaret J, Longstreth, W T, Schumann, Gunter, Grabe, Hans J, Franke, Barbara, Launer, Lenore J, Medland, Sarah E, Seshadri, Sudha, Thompson, Paul M, Ikram, M Arfan, Hibar, Derrek P, Adams, Hieab H H, Jahanshad, Neda, Chauhan, Ganesh, Stein, Jason L, Hofer, Edith, Renteria, Miguel E, Bis, Joshua C, Arias-Vasquez, Alejandro, Ikram, M Kamran, Desrivières, Sylvane, Vernooij, Meike W, Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S, Armstrong, Nicola J, Athanasiu, Lavinia, Axelsson, Tomas, Beecham, Ashley H, Beiser, Alexa, Bernard, Manon, Blanton, Susan H, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brickman, Adam M, Carmichael, Owen, Chakravarty, M Mallar, Chen, Qiang, Ching, Christopher R K, Chouraki, Vincent, Cuellar-Partida, Gabriel, Crivello, Fabrice, Den Braber, Anouk, Doan, Nhat Trung, Ehrlich, Stefan, Giddaluru, Sudheer, Goldman, Aaron L, Gottesman, Rebecca F, Grimm, Oliver, Griswold, Michael E, Guadalupe, Tulio, Gutman, Boris A, Hass, Johanna, Haukvik, Unn K, Hoehn, David, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Jørgensen, Kjetil N, Karbalai, Nazanin, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Liewald, David C M, Lopez, Lorna M, Luciano, Michelle, Macare, Christine, Marquand, Andre F, Matarin, Mar, Mather, Karen A, Mattheisen, Manuel, McKay, David R, Milaneschi, Yuri, Muñoz Maniega, Susana, Nho, Kwangsik, Nugent, Allison C, Nyquist, Paul, Loohuis, Loes M Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pirpamer, Lukas, Pütz, Benno, Ramasamy, Adaikalavan, Richards, Jennifer S, Risacher, Shannon L, Roiz-Santiañez, Roberto, Rommelse, Nanda, Ropele, Stefan, Rose, Emma J, Royle, Natalie A, Rundek, Tatjana, Sämann, Philipp G, Saremi, Arvin, Satizabal, Claudia L, Schmaal, Lianne, Schork, Andrew J, Shen, Li, Shin, Jean, Shumskaya, Elena, Smith, Albert V, Sprooten, Emma, Strike, Lachlan T, Teumer, Alexander, Tordesillas-Gutierrez, Diana, Toro, Roberto, Trabzuni, Daniah, Trompet, Stella, Vaidya, Dhananjay, Van der Grond, Jeroen, Van der Lee, Sven J, Van der Meer, Dennis, Van Donkelaar, Marjolein M J, Van Eijk, Kristel R, Van Erp, Theo G M, Van Rooij, Daan, Walton, Esther, Westlye, Lars T, Whelan, Christopher D, Windham, Beverly G, Winkler, Anderson M, Wittfeld, Katharina, Woldehawariat, Girma, Wolf, Christiane, Wolfers, Thomas, Yanek, Lisa R, Yang, Jingyun, Zijdenbos, Alex, Zwiers, Marcel P, Agartz, Ingrid, Almasy, Laura, Ames, David, Amouyel, Philippe, Andreassen, Ole A, Arepalli, Sampath, Assareh, Amelia A, Barral, Sandra, Bastin, Mark E, Becker, Diane M, Becker, James T, Bennett, David A, Blangero, John, van Bokhoven, Hans, Boomsma, Dorret I, Brodaty, Henry, Brouwer, Rachel M, Brunner, Han G, Buckner, Randy L, Buitelaar, Jan K, Bulayeva, Kazima B, Cahn, Wiepke, Calhoun, Vince D, Cannon, Dara M, Cavalleri, Gianpiero L, Cheng, Ching-Yu, Cichon, Sven, Cookson, Mark R, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Czisch, Michael, Dale, Anders M, Davies, Gareth E, De Craen, Anton J M, De Geus, Eco J C, De Jager, Philip L, De Zubicaray, Greig I, Deary, Ian J, Debette, Stéphanie, DeCarli, Charles, Delanty, Norman, Depondt, Chantal, DeStefano, Anita, Dillman, Allissa, Djurovic, Srdjan, Donohoe, Gary, Drevets, Wayne C, Duggirala, Ravi, Dyer, Thomas D, Enzinger, Christian, Erk, Susanne, Espeseth, Thomas, Fedko, Iryna O, Fernández, Guillén, Ferrucci, Luigi, Fisher, Simon E, Fleischman, Debra A, Ford, Ian, Fornage, Myriam, Foroud, Tatiana M, Fox, Peter T, Francks, Clyde, Fukunaga, Masaki, Gibbs, J Raphael, Glahn, David C, Gollub, Randy L, Göring, Harald H H, Green, Robert C, Gruber, Oliver, Gudnason, Vilmundur, Guelfi, Sebastian, Håberg, Asta K, Hansell, Narelle K, Hardy, John, Hartman, Catharina A, Hashimoto, Ryota, Hegenscheid, Katrin, Heinz, Andreas, Le Hellard, Stephanie, Hernandez, Dena G, Heslenfeld, Dirk J, Ho, Beng-Choon, Hoekstra, Pieter J, Hoffmann, Wolfgang, Hofman, Albert, Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Hottenga, Jouke-Jan, Huentelman, Matthew, Pol, Hilleke E Hulshoff, Ikeda, Masashi, Jack, Clifford R, Jenkinson, Mark, Johnson, Robert, Jönsson, Erik G, Jukema, J Wouter, Kahn, René S, Kanai, Ryota, Kloszewska, Iwona, Knopman, David S, Kochunov, Peter, Kwok, John B, Lawrie, Stephen M, Lemaître, Hervé, Liu, Xinmin, Longo, Dan L, Lopez, Oscar L, Lovestone, Simon, Martinez, Oliver, Martinot, Jean-Luc, Mattay, Venkata S, McDonald, Colm, McIntosh, Andrew M, McMahon, Francis J, McMahon, Katie L, Mecocci, Patrizia, Melle, Ingrid, Meyer-Lindenberg, Andreas, Mohnke, Sebastian, Montgomery, Grant W, Morris, Derek W, Mosley, Thomas H, Mühleisen, Thomas W, Müller-Myhsok, Bertram, Nalls, Michael A, Nauck, Matthias, Nichols, Thomas E, Niessen, Wiro J, Nöthen, Markus M, Nyberg, Lars, Ohi, Kazutaka, Olvera, Rene L, Ophoff, Roel A, Pandolfo, Massimo, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W J H, Pike, G Bruce, Potkin, Steven G, Psaty, Bruce M, Reppermund, Simone, Rietschel, Marcella, Roffman, Joshua L, Romanczuk-Seiferth, Nina, Rotter, Jerome I, Ryten, Mina, Sacco, Ralph L, Sachdev, Perminder S, Saykin, Andrew J, Schmidt, Reinhold, Schmidt, Helena, Schofield, Peter R, Sigursson, Sigurdur, Simmons, Andrew, Singleton, Andrew, Sisodiya, Sanjay M, Smith, Colin, Smoller, Jordan W, Soininen, Hilkka, Steen, Vidar M, Stott, David J, Sussmann, Jessika E, Thalamuthu, Anbupalam, Toga, Arthur W, Traynor, Bryan J, Troncoso, Juan, Tsolaki, Magda, Tzourio, Christophe, Uitterlinden, Andre G, Hernández, Maria C Valdés, Van der Brug, Marcel, van der Lugt, Aad, van der Wee, Nic J A, Van Haren, Neeltje E M, van 't Ent, Dennis, Van Tol, Marie-Jose, Vardarajan, Badri N, Vellas, Bruno, Veltman, Dick J, Völzke, Henry, Walter, Henrik, Wardlaw, Joanna M, Wassink, Thomas H, Weale, Michael E, Weinberger, Daniel R, Weiner, Michael W, Wen, Wei, Westman, Eric, White, Tonya, Wong, Tien Y, Wright, Clinton B, Zielke, Ronald H, Zonderman, Alan B, Martin, Nicholas G, Van Duijn, Cornelia M, Wright, Margaret J, Longstreth, W T, Schumann, Gunter, Grabe, Hans J, Franke, Barbara, Launer, Lenore J, Medland, Sarah E, Seshadri, Sudha, Thompson, Paul M, and Ikram, M Arfan
Published: 2017

11. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Author: Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, Talkowski, Michael E, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, and Talkowski, Michael E
Published: 2017

12. Novel genetic loci associated with hippocampal volume

Author: ZL Cerebrovasculaire Ziekten Medisch, Onderzoeksgroep 4, Brain, Psychologen i.o., Onderzoeksgroep 2, Neurogenetica, Onderzoeksgroep 1, Affectieve & Psychotische Med., Onderzoek, Hibar, Derrek P, Adams, Hieab H H, Jahanshad, Neda, Chauhan, Ganesh, Stein, Jason L, Hofer, Edith, Renteria, Miguel E, Bis, Joshua C, Arias-Vasquez, Alejandro, Ikram, M Kamran, Desrivières, Sylvane, Vernooij, Meike W, Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S, Armstrong, Nicola J, Athanasiu, Lavinia, Axelsson, Tomas, Beecham, Ashley H, Beiser, Alexa, Bernard, Manon, Blanton, Susan H, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brickman, Adam M, Carmichael, Owen, Chakravarty, M Mallar, Chen, Qiang, Ching, Christopher R K, Chouraki, Vincent, Cuellar-Partida, Gabriel, Crivello, Fabrice, Den Braber, Anouk, Doan, Nhat Trung, Ehrlich, Stefan, Giddaluru, Sudheer, Goldman, Aaron L, Gottesman, Rebecca F, Grimm, Oliver, Griswold, Michael E, Guadalupe, Tulio, Gutman, Boris A, Hass, Johanna, Haukvik, Unn K, Hoehn, David, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Jørgensen, Kjetil N, Karbalai, Nazanin, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Liewald, David C M, Lopez, Lorna M, Luciano, Michelle, Macare, Christine, Marquand, Andre F, Matarin, Mar, Mather, Karen A, Mattheisen, Manuel, McKay, David R, Milaneschi, Yuri, Muñoz Maniega, Susana, Nho, Kwangsik, Nugent, Allison C, Nyquist, Paul, Loohuis, Loes M Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pirpamer, Lukas, Pütz, Benno, Ramasamy, Adaikalavan, Richards, Jennifer S, Risacher, Shannon L, Roiz-Santiañez, Roberto, Rommelse, Nanda, Ropele, Stefan, Rose, Emma J, Royle, Natalie A, Rundek, Tatjana, Sämann, Philipp G, Saremi, Arvin, Satizabal, Claudia L, Schmaal, Lianne, Schork, Andrew J, Shen, Li, Shin, Jean, Shumskaya, Elena, Smith, Albert V, Sprooten, Emma, Strike, Lachlan T, Teumer, Alexander, Tordesillas-Gutierrez, Diana, Toro, Roberto, Trabzuni, Daniah, Trompet, Stella, Vaidya, Dhananjay, Van der Grond, Jeroen, Van der Lee, Sven J, Van der Meer, Dennis, Van Donkelaar, Marjolein M J, Van Eijk, Kristel R, Van Erp, Theo G M, Van Rooij, Daan, Walton, Esther, Westlye, Lars T, Whelan, Christopher D, Windham, Beverly G, Winkler, Anderson M, Wittfeld, Katharina, Woldehawariat, Girma, Wolf, Christiane, Wolfers, Thomas, Yanek, Lisa R, Yang, Jingyun, Zijdenbos, Alex, Zwiers, Marcel P, Agartz, Ingrid, Almasy, Laura, Ames, David, Amouyel, Philippe, Andreassen, Ole A, Arepalli, Sampath, Assareh, Amelia A, Barral, Sandra, Bastin, Mark E, Becker, Diane M, Becker, James T, Bennett, David A, Blangero, John, van Bokhoven, Hans, Boomsma, Dorret I, Brodaty, Henry, Brouwer, Rachel M, Brunner, Han G, Buckner, Randy L, Buitelaar, Jan K, Bulayeva, Kazima B, Cahn, Wiepke, Calhoun, Vince D, Cannon, Dara M, Cavalleri, Gianpiero L, Cheng, Ching-Yu, Cichon, Sven, Cookson, Mark R, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Czisch, Michael, Dale, Anders M, Davies, Gareth E, De Craen, Anton J M, De Geus, Eco J C, De Jager, Philip L, De Zubicaray, Greig I, Deary, Ian J, Debette, Stéphanie, DeCarli, Charles, Delanty, Norman, Depondt, Chantal, DeStefano, Anita, Dillman, Allissa, Djurovic, Srdjan, Donohoe, Gary, Drevets, Wayne C, Duggirala, Ravi, Dyer, Thomas D, Enzinger, Christian, Erk, Susanne, Espeseth, Thomas, Fedko, Iryna O, Fernández, Guillén, Ferrucci, Luigi, Fisher, Simon E, Fleischman, Debra A, Ford, Ian, Fornage, Myriam, Foroud, Tatiana M, Fox, Peter T, Francks, Clyde, Fukunaga, Masaki, Gibbs, J Raphael, Glahn, David C, Gollub, Randy L, Göring, Harald H H, Green, Robert C, Gruber, Oliver, Gudnason, Vilmundur, Guelfi, Sebastian, Håberg, Asta K, Hansell, Narelle K, Hardy, John, Hartman, Catharina A, Hashimoto, Ryota, Hegenscheid, Katrin, Heinz, Andreas, Le Hellard, Stephanie, Hernandez, Dena G, Heslenfeld, Dirk J, Ho, Beng-Choon, Hoekstra, Pieter J, Hoffmann, Wolfgang, Hofman, Albert, Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Hottenga, Jouke-Jan, Huentelman, Matthew, Pol, Hilleke E Hulshoff, Ikeda, Masashi, Jack, Clifford R, Jenkinson, Mark, Johnson, Robert, Jönsson, Erik G, Jukema, J Wouter, Kahn, René S, Kanai, Ryota, Kloszewska, Iwona, Knopman, David S, Kochunov, Peter, Kwok, John B, Lawrie, Stephen M, Lemaître, Hervé, Liu, Xinmin, Longo, Dan L, Lopez, Oscar L, Lovestone, Simon, Martinez, Oliver, Martinot, Jean-Luc, Mattay, Venkata S, McDonald, Colm, McIntosh, Andrew M, McMahon, Francis J, McMahon, Katie L, Mecocci, Patrizia, Melle, Ingrid, Meyer-Lindenberg, Andreas, Mohnke, Sebastian, Montgomery, Grant W, Morris, Derek W, Mosley, Thomas H, Mühleisen, Thomas W, Müller-Myhsok, Bertram, Nalls, Michael A, Nauck, Matthias, Nichols, Thomas E, Niessen, Wiro J, Nöthen, Markus M, Nyberg, Lars, Ohi, Kazutaka, Olvera, Rene L, Ophoff, Roel A, Pandolfo, Massimo, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W J H, Pike, G Bruce, Potkin, Steven G, Psaty, Bruce M, Reppermund, Simone, Rietschel, Marcella, Roffman, Joshua L, Romanczuk-Seiferth, Nina, Rotter, Jerome I, Ryten, Mina, Sacco, Ralph L, Sachdev, Perminder S, Saykin, Andrew J, Schmidt, Reinhold, Schmidt, Helena, Schofield, Peter R, Sigursson, Sigurdur, Simmons, Andrew, Singleton, Andrew, Sisodiya, Sanjay M, Smith, Colin, Smoller, Jordan W, Soininen, Hilkka, Steen, Vidar M, Stott, David J, Sussmann, Jessika E, Thalamuthu, Anbupalam, Toga, Arthur W, Traynor, Bryan J, Troncoso, Juan, Tsolaki, Magda, Tzourio, Christophe, Uitterlinden, Andre G, Hernández, Maria C Valdés, Van der Brug, Marcel, van der Lugt, Aad, van der Wee, Nic J A, Van Haren, Neeltje E M, van 't Ent, Dennis, Van Tol, Marie-Jose, Vardarajan, Badri N, Vellas, Bruno, Veltman, Dick J, Völzke, Henry, Walter, Henrik, Wardlaw, Joanna M, Wassink, Thomas H, Weale, Michael E, Weinberger, Daniel R, Weiner, Michael W, Wen, Wei, Westman, Eric, White, Tonya, Wong, Tien Y, Wright, Clinton B, Zielke, Ronald H, Zonderman, Alan B, Martin, Nicholas G, Van Duijn, Cornelia M, Wright, Margaret J, Longstreth, W T, Schumann, Gunter, Grabe, Hans J, Franke, Barbara, Launer, Lenore J, Medland, Sarah E, Seshadri, Sudha, Thompson, Paul M, Ikram, M Arfan, ZL Cerebrovasculaire Ziekten Medisch, Onderzoeksgroep 4, Brain, Psychologen i.o., Onderzoeksgroep 2, Neurogenetica, Onderzoeksgroep 1, Affectieve & Psychotische Med., Onderzoek, Hibar, Derrek P, Adams, Hieab H H, Jahanshad, Neda, Chauhan, Ganesh, Stein, Jason L, Hofer, Edith, Renteria, Miguel E, Bis, Joshua C, Arias-Vasquez, Alejandro, Ikram, M Kamran, Desrivières, Sylvane, Vernooij, Meike W, Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S, Armstrong, Nicola J, Athanasiu, Lavinia, Axelsson, Tomas, Beecham, Ashley H, Beiser, Alexa, Bernard, Manon, Blanton, Susan H, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brickman, Adam M, Carmichael, Owen, Chakravarty, M Mallar, Chen, Qiang, Ching, Christopher R K, Chouraki, Vincent, Cuellar-Partida, Gabriel, Crivello, Fabrice, Den Braber, Anouk, Doan, Nhat Trung, Ehrlich, Stefan, Giddaluru, Sudheer, Goldman, Aaron L, Gottesman, Rebecca F, Grimm, Oliver, Griswold, Michael E, Guadalupe, Tulio, Gutman, Boris A, Hass, Johanna, Haukvik, Unn K, Hoehn, David, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Jørgensen, Kjetil N, Karbalai, Nazanin, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Liewald, David C M, Lopez, Lorna M, Luciano, Michelle, Macare, Christine, Marquand, Andre F, Matarin, Mar, Mather, Karen A, Mattheisen, Manuel, McKay, David R, Milaneschi, Yuri, Muñoz Maniega, Susana, Nho, Kwangsik, Nugent, Allison C, Nyquist, Paul, Loohuis, Loes M Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pirpamer, Lukas, Pütz, Benno, Ramasamy, Adaikalavan, Richards, Jennifer S, Risacher, Shannon L, Roiz-Santiañez, Roberto, Rommelse, Nanda, Ropele, Stefan, Rose, Emma J, Royle, Natalie A, Rundek, Tatjana, Sämann, Philipp G, Saremi, Arvin, Satizabal, Claudia L, Schmaal, Lianne, Schork, Andrew J, Shen, Li, Shin, Jean, Shumskaya, Elena, Smith, Albert V, Sprooten, Emma, Strike, Lachlan T, Teumer, Alexander, Tordesillas-Gutierrez, Diana, Toro, Roberto, Trabzuni, Daniah, Trompet, Stella, Vaidya, Dhananjay, Van der Grond, Jeroen, Van der Lee, Sven J, Van der Meer, Dennis, Van Donkelaar, Marjolein M J, Van Eijk, Kristel R, Van Erp, Theo G M, Van Rooij, Daan, Walton, Esther, Westlye, Lars T, Whelan, Christopher D, Windham, Beverly G, Winkler, Anderson M, Wittfeld, Katharina, Woldehawariat, Girma, Wolf, Christiane, Wolfers, Thomas, Yanek, Lisa R, Yang, Jingyun, Zijdenbos, Alex, Zwiers, Marcel P, Agartz, Ingrid, Almasy, Laura, Ames, David, Amouyel, Philippe, Andreassen, Ole A, Arepalli, Sampath, Assareh, Amelia A, Barral, Sandra, Bastin, Mark E, Becker, Diane M, Becker, James T, Bennett, David A, Blangero, John, van Bokhoven, Hans, Boomsma, Dorret I, Brodaty, Henry, Brouwer, Rachel M, Brunner, Han G, Buckner, Randy L, Buitelaar, Jan K, Bulayeva, Kazima B, Cahn, Wiepke, Calhoun, Vince D, Cannon, Dara M, Cavalleri, Gianpiero L, Cheng, Ching-Yu, Cichon, Sven, Cookson, Mark R, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Czisch, Michael, Dale, Anders M, Davies, Gareth E, De Craen, Anton J M, De Geus, Eco J C, De Jager, Philip L, De Zubicaray, Greig I, Deary, Ian J, Debette, Stéphanie, DeCarli, Charles, Delanty, Norman, Depondt, Chantal, DeStefano, Anita, Dillman, Allissa, Djurovic, Srdjan, Donohoe, Gary, Drevets, Wayne C, Duggirala, Ravi, Dyer, Thomas D, Enzinger, Christian, Erk, Susanne, Espeseth, Thomas, Fedko, Iryna O, Fernández, Guillén, Ferrucci, Luigi, Fisher, Simon E, Fleischman, Debra A, Ford, Ian, Fornage, Myriam, Foroud, Tatiana M, Fox, Peter T, Francks, Clyde, Fukunaga, Masaki, Gibbs, J Raphael, Glahn, David C, Gollub, Randy L, Göring, Harald H H, Green, Robert C, Gruber, Oliver, Gudnason, Vilmundur, Guelfi, Sebastian, Håberg, Asta K, Hansell, Narelle K, Hardy, John, Hartman, Catharina A, Hashimoto, Ryota, Hegenscheid, Katrin, Heinz, Andreas, Le Hellard, Stephanie, Hernandez, Dena G, Heslenfeld, Dirk J, Ho, Beng-Choon, Hoekstra, Pieter J, Hoffmann, Wolfgang, Hofman, Albert, Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Hottenga, Jouke-Jan, Huentelman, Matthew, Pol, Hilleke E Hulshoff, Ikeda, Masashi, Jack, Clifford R, Jenkinson, Mark, Johnson, Robert, Jönsson, Erik G, Jukema, J Wouter, Kahn, René S, Kanai, Ryota, Kloszewska, Iwona, Knopman, David S, Kochunov, Peter, Kwok, John B, Lawrie, Stephen M, Lemaître, Hervé, Liu, Xinmin, Longo, Dan L, Lopez, Oscar L, Lovestone, Simon, Martinez, Oliver, Martinot, Jean-Luc, Mattay, Venkata S, McDonald, Colm, McIntosh, Andrew M, McMahon, Francis J, McMahon, Katie L, Mecocci, Patrizia, Melle, Ingrid, Meyer-Lindenberg, Andreas, Mohnke, Sebastian, Montgomery, Grant W, Morris, Derek W, Mosley, Thomas H, Mühleisen, Thomas W, Müller-Myhsok, Bertram, Nalls, Michael A, Nauck, Matthias, Nichols, Thomas E, Niessen, Wiro J, Nöthen, Markus M, Nyberg, Lars, Ohi, Kazutaka, Olvera, Rene L, Ophoff, Roel A, Pandolfo, Massimo, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W J H, Pike, G Bruce, Potkin, Steven G, Psaty, Bruce M, Reppermund, Simone, Rietschel, Marcella, Roffman, Joshua L, Romanczuk-Seiferth, Nina, Rotter, Jerome I, Ryten, Mina, Sacco, Ralph L, Sachdev, Perminder S, Saykin, Andrew J, Schmidt, Reinhold, Schmidt, Helena, Schofield, Peter R, Sigursson, Sigurdur, Simmons, Andrew, Singleton, Andrew, Sisodiya, Sanjay M, Smith, Colin, Smoller, Jordan W, Soininen, Hilkka, Steen, Vidar M, Stott, David J, Sussmann, Jessika E, Thalamuthu, Anbupalam, Toga, Arthur W, Traynor, Bryan J, Troncoso, Juan, Tsolaki, Magda, Tzourio, Christophe, Uitterlinden, Andre G, Hernández, Maria C Valdés, Van der Brug, Marcel, van der Lugt, Aad, van der Wee, Nic J A, Van Haren, Neeltje E M, van 't Ent, Dennis, Van Tol, Marie-Jose, Vardarajan, Badri N, Vellas, Bruno, Veltman, Dick J, Völzke, Henry, Walter, Henrik, Wardlaw, Joanna M, Wassink, Thomas H, Weale, Michael E, Weinberger, Daniel R, Weiner, Michael W, Wen, Wei, Westman, Eric, White, Tonya, Wong, Tien Y, Wright, Clinton B, Zielke, Ronald H, Zonderman, Alan B, Martin, Nicholas G, Van Duijn, Cornelia M, Wright, Margaret J, Longstreth, W T, Schumann, Gunter, Grabe, Hans J, Franke, Barbara, Launer, Lenore J, Medland, Sarah E, Seshadri, Sudha, Thompson, Paul M, and Ikram, M Arfan
Published: 2017

13. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Author: Genetica Klinische Genetica, Brain, CMM, Circulatory Health, Cancer, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Groep Cuppen, Genetica, CMM Groep Kloosterman, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, Talkowski, Michael E, Genetica Klinische Genetica, Brain, CMM, Circulatory Health, Cancer, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Groep Cuppen, Genetica, CMM Groep Kloosterman, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, and Talkowski, Michael E
Published: 2017

14. Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

Author: Paulussen, Aimee D C, Steyls, Anja, Vanoevelen, Jo, Van Tienen, Florence H J, Krapels, Ingrid P C, Claes, Godelieve R F, Chocron, Sonja, Velter, Crool, Tan-Sindhunata, Gita M., Lundin, Catarina, Valenzuela, Irene, Nagy, Balint, Bache, Iben, Maroun, Lisa Leth, Avela, Kristiina, Brunner, Han G., Smeets, Hubert J M, Bakkers, Jeroen, Van Den Wijngaard, Arthur, Paulussen, Aimee D C, Steyls, Anja, Vanoevelen, Jo, Van Tienen, Florence H J, Krapels, Ingrid P C, Claes, Godelieve R F, Chocron, Sonja, Velter, Crool, Tan-Sindhunata, Gita M., Lundin, Catarina, Valenzuela, Irene, Nagy, Balint, Bache, Iben, Maroun, Lisa Leth, Avela, Kristiina, Brunner, Han G., Smeets, Hubert J M, Bakkers, Jeroen, and Van Den Wijngaard, Arthur
Published: 2016

15. Novel genetic loci underlying human intracranial volume identified through genome-wide association

Author: Adams, Hieab H H, Hibar, Derrek P, Chouraki, Vincent, Stein, Jason L, Nyquist, Paul A, Rentería, Miguel E, Trompet, Stella, Arias-Vasquez, Alejandro, Seshadri, Sudha, Desrivières, Sylvane, Beecham, Ashley H, Jahanshad, Neda, Wittfeld, Katharina, Van der Lee, Sven J, Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S, Armstrong, Nicola J, Athanasiu, Lavinia, Axelsson, Tomas, Beiser, Alexa, Bernard, Manon, Bis, Joshua C, Blanken, Laura M E, Blanton, Susan H, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brickman, Adam M, Carmichael, Owen, Chakravarty, M Mallar, Chauhan, Ganesh, Chen, Qiang, Ching, Christopher R K, Cuellar-Partida, Gabriel, Braber, Anouk Den, Doan, Nhat Trung, Ehrlich, Stefan, Filippi, Irina, Ge, Tian, Giddaluru, Sudheer, Goldman, Aaron L, Gottesman, Rebecca F, Greven, Corina U, Grimm, Oliver, Griswold, Michael E, Guadalupe, Tulio, Hass, Johanna, Haukvik, Unn K, Hilal, Saima, Hofer, Edith, Hoehn, David, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Liao, Jiemin, Liewald, David C M, Lopez, Lorna M, Luciano, Michelle, Macare, Christine, Marquand, Andre, Matarin, Mar, Mather, Karen A, Mattheisen, Manuel, Mazoyer, Bernard, McKay, David R, McWhirter, Rebekah, Milaneschi, Yuri, Mirza-Schreiber, Nazanin, Muetzel, Ryan L, Maniega, Susana Muñoz, Nho, Kwangsik, Nugent, Allison C, Loohuis, Loes M Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pappa, Irene, Pirpamer, Lukas, Pudas, Sara, Pütz, Benno, Rajan, Kumar B, Ramasamy, Adaikalavan, Richards, Jennifer S, Risacher, Shannon L, Roiz-Santiañez, Roberto, Rommelse, Nanda, Rose, Emma J, Royle, Natalie A, Rundek, Tatjana, Sämann, Philipp G, Satizabal, Claudia L, Schmaal, Lianne, Schork, Andrew J, Shen, Li, Shin, Jean, Shumskaya, Elena, Smith, Albert V, Sprooten, Emma, Strike, Lachlan T, Teumer, Alexander, Thomson, Russell, Tordesillas-Gutierrez, Diana, Toro, Roberto, Trabzuni, Daniah, Vaidya, Dhananjay, Van der Grond, Jeroen, Van der Meer, Dennis, Van Donkelaar, Marjolein M J, Van Eijk, Kristel R, Van Erp, Theo G M, Van Rooij, Daan, Walton, Esther, Westlye, Lars T, Whelan, Christopher D, Windham, Beverly G, Winkler, Anderson M, Woldehawariat, Girma, Wolf, Christiane, Wolfers, Thomas, Xu, Bing, Yanek, Lisa R, Yang, Jingyun, Zijdenbos, Alex, Zwiers, Marcel P, Agartz, Ingrid, Aggarwal, Neelum T, Almasy, Laura, Ames, David, Amouyel, Philippe, Andreassen, Ole A, Arepalli, Sampath, Assareh, Amelia A, Barral, Sandra, Bastin, Mark E, Becker, Diane M, Becker, James T, Bennett, David A, Blangero, John, van Bokhoven, Hans, Boomsma, Dorret I, Brodaty, Henry, Brouwer, Rachel M, Brunner, Han G, Buckner, Randy L, Buitelaar, Jan K, Bulayeva, Kazima B, Cahn, Wiepke, Calhoun, Vince D, Cannon, Dara M, Cavalleri, Gianpiero L, Chen, Christopher, Cheng, Ching-Yu, Cichon, Sven, Cookson, Mark R, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Czisch, Michael, Dale, Anders M, Davies, Gareth E, De Geus, Eco J C, De Jager, Philip L, de Zubicaray, Greig I, Delanty, Norman, Depondt, Chantal, DeStefano, Anita L, Dillman, Allissa, Djurovic, Srdjan, Donohoe, Gary, Drevets, Wayne C, Duggirala, Ravi, Dyer, Thomas D, Erk, Susanne, Espeseth, Thomas, Evans, Denis A, Fedko, Iryna O, Fernández, Guillén, Ferrucci, Luigi, Fisher, Simon E, Fleischman, Debra A, Ford, Ian, Foroud, Tatiana M, Fox, Peter T, Francks, Clyde, Fukunaga, Masaki, Gibbs, J Raphael, Glahn, David C, Gollub, Randy L, Göring, Harald H H, Grabe, Hans J, Green, Robert C, Gruber, Oliver, Gudnason, Vilmundur, Guelfi, Sebastian, Hansell, Narelle K, Hardy, John, Hartman, Catharina A, Hashimoto, Ryota, Hegenscheid, Katrin, Heinz, Andreas, Le Hellard, Stephanie, Hernandez, Dena G, Heslenfeld, Dirk J, Ho, Beng-Choon, Hoekstra, Pieter J, Hoffmann, Wolfgang, Hofman, Albert, Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Hottenga, Jouke-Jan, Pol, Hilleke E Hulshoff, Ikeda, Masashi, Ikram, M Kamran, Jack, Clifford R, Jenkinson, Mark, Johnson, Robert, Jönsson, Erik G, Jukema, J Wouter, Kahn, René S, Kanai, Ryota, Kloszewska, Iwona, Knopman, David S, Kochunov, Peter, Kwok, John B, Lawrie, Stephen M, Lemaître, Hervé, Liu, Xinmin, Longo, Dan L, Longstreth, W T, Lopez, Oscar L, Lovestone, Simon, Martinez, Oliver, Martinot, Jean-Luc, Mattay, Venkata S, McDonald, Colm, McIntosh, Andrew M, McMahon, Katie L, McMahon, Francis J, Mecocci, Patrizia, Melle, Ingrid, Meyer-Lindenberg, Andreas, Mohnke, Sebastian, Montgomery, Grant W, Morris, Derek W, Mosley, Thomas H, Mühleisen, Thomas W, Müller-Myhsok, Bertram, Nalls, Michael A, Nauck, Matthias, Nichols, Thomas E, Niessen, Wiro J, Nöthen, Markus M, Nyberg, Lars, Ohi, Kazutaka, Olvera, Rene L, Ophoff, Roel A, Pandolfo, Massimo, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W J H, Pike, G Bruce, Potkin, Steven G, Psaty, Bruce M, Reppermund, Simone, Rietschel, Marcella, Roffman, Joshua L, Romanczuk-Seiferth, Nina, Rotter, Jerome I, Ryten, Mina, Sacco, Ralph L, Sachdev, Perminder S, Saykin, Andrew J, Schmidt, Reinhold, Schofield, Peter R, Sigurdsson, Sigurdur, Simmons, Andy, Singleton, Andrew, Sisodiya, Sanjay M, Smith, Colin, Smoller, Jordan W, Soininen, Hilkka, Srikanth, Velandai, Steen, Vidar M, Stott, David J, Sussmann, Jessika E, Thalamuthu, Anbupalam, Tiemeier, Henning, Toga, Arthur W, Traynor, Bryan J, Troncoso, Juan, Turner, Jessica A, Tzourio, Christophe, Uitterlinden, Andre G, Hernández, Maria C Valdés, Van der Brug, Marcel, Van der Lugt, Aad, Van der Wee, Nic J A, Van Duijn, Cornelia M, Van Haren, Neeltje E M, Van T Ent, Dennis, Van Tol, Marie-Jose, Vardarajan, Badri N, Veltman, Dick J, Vernooij, Meike W, Völzke, Henry, Walter, Henrik, Wardlaw, Joanna M, Wassink, Thomas H, Weale, Michael E, Weinberger, Daniel R, Weiner, Michael W, Wen, Wei, Westman, Eric, White, Tonya, Wong, Tien Y, Wright, Clinton B, Zielke, H Ronald, Zonderman, Alan B, Deary, Ian J, DeCarli, Charles, Schmidt, Helena, Martin, Nicholas G, De Craen, Anton J M, Wright, Margaret J, Launer, Lenore J, Schumann, Gunter, Fornage, Myriam, Franke, Barbara, Debette, Stéphanie, Medland, Sarah E, Ikram, M Arfan, Thompson, Paul M, Adams, Hieab H H, Hibar, Derrek P, Chouraki, Vincent, Stein, Jason L, Nyquist, Paul A, Rentería, Miguel E, Trompet, Stella, Arias-Vasquez, Alejandro, Seshadri, Sudha, Desrivières, Sylvane, Beecham, Ashley H, Jahanshad, Neda, Wittfeld, Katharina, Van der Lee, Sven J, Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S, Armstrong, Nicola J, Athanasiu, Lavinia, Axelsson, Tomas, Beiser, Alexa, Bernard, Manon, Bis, Joshua C, Blanken, Laura M E, Blanton, Susan H, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brickman, Adam M, Carmichael, Owen, Chakravarty, M Mallar, Chauhan, Ganesh, Chen, Qiang, Ching, Christopher R K, Cuellar-Partida, Gabriel, Braber, Anouk Den, Doan, Nhat Trung, Ehrlich, Stefan, Filippi, Irina, Ge, Tian, Giddaluru, Sudheer, Goldman, Aaron L, Gottesman, Rebecca F, Greven, Corina U, Grimm, Oliver, Griswold, Michael E, Guadalupe, Tulio, Hass, Johanna, Haukvik, Unn K, Hilal, Saima, Hofer, Edith, Hoehn, David, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Liao, Jiemin, Liewald, David C M, Lopez, Lorna M, Luciano, Michelle, Macare, Christine, Marquand, Andre, Matarin, Mar, Mather, Karen A, Mattheisen, Manuel, Mazoyer, Bernard, McKay, David R, McWhirter, Rebekah, Milaneschi, Yuri, Mirza-Schreiber, Nazanin, Muetzel, Ryan L, Maniega, Susana Muñoz, Nho, Kwangsik, Nugent, Allison C, Loohuis, Loes M Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pappa, Irene, Pirpamer, Lukas, Pudas, Sara, Pütz, Benno, Rajan, Kumar B, Ramasamy, Adaikalavan, Richards, Jennifer S, Risacher, Shannon L, Roiz-Santiañez, Roberto, Rommelse, Nanda, Rose, Emma J, Royle, Natalie A, Rundek, Tatjana, Sämann, Philipp G, Satizabal, Claudia L, Schmaal, Lianne, Schork, Andrew J, Shen, Li, Shin, Jean, Shumskaya, Elena, Smith, Albert V, Sprooten, Emma, Strike, Lachlan T, Teumer, Alexander, Thomson, Russell, Tordesillas-Gutierrez, Diana, Toro, Roberto, Trabzuni, Daniah, Vaidya, Dhananjay, Van der Grond, Jeroen, Van der Meer, Dennis, Van Donkelaar, Marjolein M J, Van Eijk, Kristel R, Van Erp, Theo G M, Van Rooij, Daan, Walton, Esther, Westlye, Lars T, Whelan, Christopher D, Windham, Beverly G, Winkler, Anderson M, Woldehawariat, Girma, Wolf, Christiane, Wolfers, Thomas, Xu, Bing, Yanek, Lisa R, Yang, Jingyun, Zijdenbos, Alex, Zwiers, Marcel P, Agartz, Ingrid, Aggarwal, Neelum T, Almasy, Laura, Ames, David, Amouyel, Philippe, Andreassen, Ole A, Arepalli, Sampath, Assareh, Amelia A, Barral, Sandra, Bastin, Mark E, Becker, Diane M, Becker, James T, Bennett, David A, Blangero, John, van Bokhoven, Hans, Boomsma, Dorret I, Brodaty, Henry, Brouwer, Rachel M, Brunner, Han G, Buckner, Randy L, Buitelaar, Jan K, Bulayeva, Kazima B, Cahn, Wiepke, Calhoun, Vince D, Cannon, Dara M, Cavalleri, Gianpiero L, Chen, Christopher, Cheng, Ching-Yu, Cichon, Sven, Cookson, Mark R, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Czisch, Michael, Dale, Anders M, Davies, Gareth E, De Geus, Eco J C, De Jager, Philip L, de Zubicaray, Greig I, Delanty, Norman, Depondt, Chantal, DeStefano, Anita L, Dillman, Allissa, Djurovic, Srdjan, Donohoe, Gary, Drevets, Wayne C, Duggirala, Ravi, Dyer, Thomas D, Erk, Susanne, Espeseth, Thomas, Evans, Denis A, Fedko, Iryna O, Fernández, Guillén, Ferrucci, Luigi, Fisher, Simon E, Fleischman, Debra A, Ford, Ian, Foroud, Tatiana M, Fox, Peter T, Francks, Clyde, Fukunaga, Masaki, Gibbs, J Raphael, Glahn, David C, Gollub, Randy L, Göring, Harald H H, Grabe, Hans J, Green, Robert C, Gruber, Oliver, Gudnason, Vilmundur, Guelfi, Sebastian, Hansell, Narelle K, Hardy, John, Hartman, Catharina A, Hashimoto, Ryota, Hegenscheid, Katrin, Heinz, Andreas, Le Hellard, Stephanie, Hernandez, Dena G, Heslenfeld, Dirk J, Ho, Beng-Choon, Hoekstra, Pieter J, Hoffmann, Wolfgang, Hofman, Albert, Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Hottenga, Jouke-Jan, Pol, Hilleke E Hulshoff, Ikeda, Masashi, Ikram, M Kamran, Jack, Clifford R, Jenkinson, Mark, Johnson, Robert, Jönsson, Erik G, Jukema, J Wouter, Kahn, René S, Kanai, Ryota, Kloszewska, Iwona, Knopman, David S, Kochunov, Peter, Kwok, John B, Lawrie, Stephen M, Lemaître, Hervé, Liu, Xinmin, Longo, Dan L, Longstreth, W T, Lopez, Oscar L, Lovestone, Simon, Martinez, Oliver, Martinot, Jean-Luc, Mattay, Venkata S, McDonald, Colm, McIntosh, Andrew M, McMahon, Katie L, McMahon, Francis J, Mecocci, Patrizia, Melle, Ingrid, Meyer-Lindenberg, Andreas, Mohnke, Sebastian, Montgomery, Grant W, Morris, Derek W, Mosley, Thomas H, Mühleisen, Thomas W, Müller-Myhsok, Bertram, Nalls, Michael A, Nauck, Matthias, Nichols, Thomas E, Niessen, Wiro J, Nöthen, Markus M, Nyberg, Lars, Ohi, Kazutaka, Olvera, Rene L, Ophoff, Roel A, Pandolfo, Massimo, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W J H, Pike, G Bruce, Potkin, Steven G, Psaty, Bruce M, Reppermund, Simone, Rietschel, Marcella, Roffman, Joshua L, Romanczuk-Seiferth, Nina, Rotter, Jerome I, Ryten, Mina, Sacco, Ralph L, Sachdev, Perminder S, Saykin, Andrew J, Schmidt, Reinhold, Schofield, Peter R, Sigurdsson, Sigurdur, Simmons, Andy, Singleton, Andrew, Sisodiya, Sanjay M, Smith, Colin, Smoller, Jordan W, Soininen, Hilkka, Srikanth, Velandai, Steen, Vidar M, Stott, David J, Sussmann, Jessika E, Thalamuthu, Anbupalam, Tiemeier, Henning, Toga, Arthur W, Traynor, Bryan J, Troncoso, Juan, Turner, Jessica A, Tzourio, Christophe, Uitterlinden, Andre G, Hernández, Maria C Valdés, Van der Brug, Marcel, Van der Lugt, Aad, Van der Wee, Nic J A, Van Duijn, Cornelia M, Van Haren, Neeltje E M, Van T Ent, Dennis, Van Tol, Marie-Jose, Vardarajan, Badri N, Veltman, Dick J, Vernooij, Meike W, Völzke, Henry, Walter, Henrik, Wardlaw, Joanna M, Wassink, Thomas H, Weale, Michael E, Weinberger, Daniel R, Weiner, Michael W, Wen, Wei, Westman, Eric, White, Tonya, Wong, Tien Y, Wright, Clinton B, Zielke, H Ronald, Zonderman, Alan B, Deary, Ian J, DeCarli, Charles, Schmidt, Helena, Martin, Nicholas G, De Craen, Anton J M, Wright, Margaret J, Launer, Lenore J, Schumann, Gunter, Fornage, Myriam, Franke, Barbara, Debette, Stéphanie, Medland, Sarah E, Ikram, M Arfan, and Thompson, Paul M
Published: 2016

16. The Koolen-de Vries syndrome : A phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Author: Koolen, David A., Pfundt, Rolph, Linda, Katrin, Beunders, Gea, Veenstra-Knol, Hermine E., Conta, Essie H., Fortuna, Ana Maria, Gillessen-Kaesbach, Gabriele, Dugan, Sarah, Halbach, Sara, Abdul-Rahman, Omar A., Winesett, Heather M., Chung, Wendy K., Dalton, Marguerite, Dimova, Petia S., Mattina, Teresa, Prescott, Katrina, Zhang, Hui Z., Saal, Howard M., Hehir-Kwa, Jayne Y., Willemsen, Marjolein H., Ockeloen, Charlotte W., Jongmans, Marjolijn C., Van Der Aa, Nathalie, Failla, Pinella, Barone, Concetta, Avola, Emanuela, Brooks, Alice S., Kant, Sarina G., Gerkes, Erica H., Firth, Helen V., Unap, Katrin, Bird, Lynne M., Masser-Frye, Diane, Friedman, Jennifer R., Sokunbi, Modupe A., Dixit, Abhijit, Splitt, Miranda, Kukolich, Mary K., McGaughran, Julie, Coe, Bradley P., Flórez, Jess, Nadif Kasr, Nael, Brunner, Han G., Thompson, Elizabeth M., Gecz, Jozef, Romano, Corrado, Eichler, Evan E., De Vries, Bert B A, Koolen, David A., Pfundt, Rolph, Linda, Katrin, Beunders, Gea, Veenstra-Knol, Hermine E., Conta, Essie H., Fortuna, Ana Maria, Gillessen-Kaesbach, Gabriele, Dugan, Sarah, Halbach, Sara, Abdul-Rahman, Omar A., Winesett, Heather M., Chung, Wendy K., Dalton, Marguerite, Dimova, Petia S., Mattina, Teresa, Prescott, Katrina, Zhang, Hui Z., Saal, Howard M., Hehir-Kwa, Jayne Y., Willemsen, Marjolein H., Ockeloen, Charlotte W., Jongmans, Marjolijn C., Van Der Aa, Nathalie, Failla, Pinella, Barone, Concetta, Avola, Emanuela, Brooks, Alice S., Kant, Sarina G., Gerkes, Erica H., Firth, Helen V., Unap, Katrin, Bird, Lynne M., Masser-Frye, Diane, Friedman, Jennifer R., Sokunbi, Modupe A., Dixit, Abhijit, Splitt, Miranda, Kukolich, Mary K., McGaughran, Julie, Coe, Bradley P., Flórez, Jess, Nadif Kasr, Nael, Brunner, Han G., Thompson, Elizabeth M., Gecz, Jozef, Romano, Corrado, Eichler, Evan E., and De Vries, Bert B A
Published: 2016

17. Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

Author: Hubrecht Institute with UMC, Medische Fysiologie, Circulatory Health, Paulussen, Aimee D C, Steyls, Anja, Vanoevelen, Jo, Van Tienen, Florence H J, Krapels, Ingrid P C, Claes, Godelieve R F, Chocron, Sonja, Velter, Crool, Tan-Sindhunata, Gita M., Lundin, Catarina, Valenzuela, Irene, Nagy, Balint, Bache, Iben, Maroun, Lisa Leth, Avela, Kristiina, Brunner, Han G., Smeets, Hubert J M, Bakkers, Jeroen, Van Den Wijngaard, Arthur, Hubrecht Institute with UMC, Medische Fysiologie, Circulatory Health, Paulussen, Aimee D C, Steyls, Anja, Vanoevelen, Jo, Van Tienen, Florence H J, Krapels, Ingrid P C, Claes, Godelieve R F, Chocron, Sonja, Velter, Crool, Tan-Sindhunata, Gita M., Lundin, Catarina, Valenzuela, Irene, Nagy, Balint, Bache, Iben, Maroun, Lisa Leth, Avela, Kristiina, Brunner, Han G., Smeets, Hubert J M, Bakkers, Jeroen, and Van Den Wijngaard, Arthur
Published: 2016

18. Novel genetic loci underlying human intracranial volume identified through genome-wide association

Author: Onderzoeksgroep 4, Brain, Risico & Preventie Ond., Onderzoeksgroep 2, Neurogenetica, Onderzoeksgroep 1, Affectieve & Psychotische Med., ZL Cerebrovasculaire Ziekten Medisch, Onderzoek, Adams, Hieab H H, Hibar, Derrek P, Chouraki, Vincent, Stein, Jason L, Nyquist, Paul A, Rentería, Miguel E, Trompet, Stella, Arias-Vasquez, Alejandro, Seshadri, Sudha, Desrivières, Sylvane, Beecham, Ashley H, Jahanshad, Neda, Wittfeld, Katharina, Van der Lee, Sven J, Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S, Armstrong, Nicola J, Athanasiu, Lavinia, Axelsson, Tomas, Beiser, Alexa, Bernard, Manon, Bis, Joshua C, Blanken, Laura M E, Blanton, Susan H, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brickman, Adam M, Carmichael, Owen, Chakravarty, M Mallar, Chauhan, Ganesh, Chen, Qiang, Ching, Christopher R K, Cuellar-Partida, Gabriel, Braber, Anouk Den, Doan, Nhat Trung, Ehrlich, Stefan, Filippi, Irina, Ge, Tian, Giddaluru, Sudheer, Goldman, Aaron L, Gottesman, Rebecca F, Greven, Corina U, Grimm, Oliver, Griswold, Michael E, Guadalupe, Tulio, Hass, Johanna, Haukvik, Unn K, Hilal, Saima, Hofer, Edith, Hoehn, David, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Liao, Jiemin, Liewald, David C M, Lopez, Lorna M, Luciano, Michelle, Macare, Christine, Marquand, Andre, Matarin, Mar, Mather, Karen A, Mattheisen, Manuel, Mazoyer, Bernard, McKay, David R, McWhirter, Rebekah, Milaneschi, Yuri, Mirza-Schreiber, Nazanin, Muetzel, Ryan L, Maniega, Susana Muñoz, Nho, Kwangsik, Nugent, Allison C, Loohuis, Loes M Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pappa, Irene, Pirpamer, Lukas, Pudas, Sara, Pütz, Benno, Rajan, Kumar B, Ramasamy, Adaikalavan, Richards, Jennifer S, Risacher, Shannon L, Roiz-Santiañez, Roberto, Rommelse, Nanda, Rose, Emma J, Royle, Natalie A, Rundek, Tatjana, Sämann, Philipp G, Satizabal, Claudia L, Schmaal, Lianne, Schork, Andrew J, Shen, Li, Shin, Jean, Shumskaya, Elena, Smith, Albert V, Sprooten, Emma, Strike, Lachlan T, Teumer, Alexander, Thomson, Russell, Tordesillas-Gutierrez, Diana, Toro, Roberto, Trabzuni, Daniah, Vaidya, Dhananjay, Van der Grond, Jeroen, Van der Meer, Dennis, Van Donkelaar, Marjolein M J, Van Eijk, Kristel R, Van Erp, Theo G M, Van Rooij, Daan, Walton, Esther, Westlye, Lars T, Whelan, Christopher D, Windham, Beverly G, Winkler, Anderson M, Woldehawariat, Girma, Wolf, Christiane, Wolfers, Thomas, Xu, Bing, Yanek, Lisa R, Yang, Jingyun, Zijdenbos, Alex, Zwiers, Marcel P, Agartz, Ingrid, Aggarwal, Neelum T, Almasy, Laura, Ames, David, Amouyel, Philippe, Andreassen, Ole A, Arepalli, Sampath, Assareh, Amelia A, Barral, Sandra, Bastin, Mark E, Becker, Diane M, Becker, James T, Bennett, David A, Blangero, John, van Bokhoven, Hans, Boomsma, Dorret I, Brodaty, Henry, Brouwer, Rachel M, Brunner, Han G, Buckner, Randy L, Buitelaar, Jan K, Bulayeva, Kazima B, Cahn, Wiepke, Calhoun, Vince D, Cannon, Dara M, Cavalleri, Gianpiero L, Chen, Christopher, Cheng, Ching-Yu, Cichon, Sven, Cookson, Mark R, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Czisch, Michael, Dale, Anders M, Davies, Gareth E, De Geus, Eco J C, De Jager, Philip L, de Zubicaray, Greig I, Delanty, Norman, Depondt, Chantal, DeStefano, Anita L, Dillman, Allissa, Djurovic, Srdjan, Donohoe, Gary, Drevets, Wayne C, Duggirala, Ravi, Dyer, Thomas D, Erk, Susanne, Espeseth, Thomas, Evans, Denis A, Fedko, Iryna O, Fernández, Guillén, Ferrucci, Luigi, Fisher, Simon E, Fleischman, Debra A, Ford, Ian, Foroud, Tatiana M, Fox, Peter T, Francks, Clyde, Fukunaga, Masaki, Gibbs, J Raphael, Glahn, David C, Gollub, Randy L, Göring, Harald H H, Grabe, Hans J, Green, Robert C, Gruber, Oliver, Gudnason, Vilmundur, Guelfi, Sebastian, Hansell, Narelle K, Hardy, John, Hartman, Catharina A, Hashimoto, Ryota, Hegenscheid, Katrin, Heinz, Andreas, Le Hellard, Stephanie, Hernandez, Dena G, Heslenfeld, Dirk J, Ho, Beng-Choon, Hoekstra, Pieter J, Hoffmann, Wolfgang, Hofman, Albert, Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Hottenga, Jouke-Jan, Pol, Hilleke E Hulshoff, Ikeda, Masashi, Ikram, M Kamran, Jack, Clifford R, Jenkinson, Mark, Johnson, Robert, Jönsson, Erik G, Jukema, J Wouter, Kahn, René S, Kanai, Ryota, Kloszewska, Iwona, Knopman, David S, Kochunov, Peter, Kwok, John B, Lawrie, Stephen M, Lemaître, Hervé, Liu, Xinmin, Longo, Dan L, Longstreth, W T, Lopez, Oscar L, Lovestone, Simon, Martinez, Oliver, Martinot, Jean-Luc, Mattay, Venkata S, McDonald, Colm, McIntosh, Andrew M, McMahon, Katie L, McMahon, Francis J, Mecocci, Patrizia, Melle, Ingrid, Meyer-Lindenberg, Andreas, Mohnke, Sebastian, Montgomery, Grant W, Morris, Derek W, Mosley, Thomas H, Mühleisen, Thomas W, Müller-Myhsok, Bertram, Nalls, Michael A, Nauck, Matthias, Nichols, Thomas E, Niessen, Wiro J, Nöthen, Markus M, Nyberg, Lars, Ohi, Kazutaka, Olvera, Rene L, Ophoff, Roel A, Pandolfo, Massimo, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W J H, Pike, G Bruce, Potkin, Steven G, Psaty, Bruce M, Reppermund, Simone, Rietschel, Marcella, Roffman, Joshua L, Romanczuk-Seiferth, Nina, Rotter, Jerome I, Ryten, Mina, Sacco, Ralph L, Sachdev, Perminder S, Saykin, Andrew J, Schmidt, Reinhold, Schofield, Peter R, Sigurdsson, Sigurdur, Simmons, Andy, Singleton, Andrew, Sisodiya, Sanjay M, Smith, Colin, Smoller, Jordan W, Soininen, Hilkka, Srikanth, Velandai, Steen, Vidar M, Stott, David J, Sussmann, Jessika E, Thalamuthu, Anbupalam, Tiemeier, Henning, Toga, Arthur W, Traynor, Bryan J, Troncoso, Juan, Turner, Jessica A, Tzourio, Christophe, Uitterlinden, Andre G, Hernández, Maria C Valdés, Van der Brug, Marcel, Van der Lugt, Aad, Van der Wee, Nic J A, Van Duijn, Cornelia M, Van Haren, Neeltje E M, Van T Ent, Dennis, Van Tol, Marie-Jose, Vardarajan, Badri N, Veltman, Dick J, Vernooij, Meike W, Völzke, Henry, Walter, Henrik, Wardlaw, Joanna M, Wassink, Thomas H, Weale, Michael E, Weinberger, Daniel R, Weiner, Michael W, Wen, Wei, Westman, Eric, White, Tonya, Wong, Tien Y, Wright, Clinton B, Zielke, H Ronald, Zonderman, Alan B, Deary, Ian J, DeCarli, Charles, Schmidt, Helena, Martin, Nicholas G, De Craen, Anton J M, Wright, Margaret J, Launer, Lenore J, Schumann, Gunter, Fornage, Myriam, Franke, Barbara, Debette, Stéphanie, Medland, Sarah E, Ikram, M Arfan, Thompson, Paul M, Onderzoeksgroep 4, Brain, Risico & Preventie Ond., Onderzoeksgroep 2, Neurogenetica, Onderzoeksgroep 1, Affectieve & Psychotische Med., ZL Cerebrovasculaire Ziekten Medisch, Onderzoek, Adams, Hieab H H, Hibar, Derrek P, Chouraki, Vincent, Stein, Jason L, Nyquist, Paul A, Rentería, Miguel E, Trompet, Stella, Arias-Vasquez, Alejandro, Seshadri, Sudha, Desrivières, Sylvane, Beecham, Ashley H, Jahanshad, Neda, Wittfeld, Katharina, Van der Lee, Sven J, Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S, Armstrong, Nicola J, Athanasiu, Lavinia, Axelsson, Tomas, Beiser, Alexa, Bernard, Manon, Bis, Joshua C, Blanken, Laura M E, Blanton, Susan H, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brickman, Adam M, Carmichael, Owen, Chakravarty, M Mallar, Chauhan, Ganesh, Chen, Qiang, Ching, Christopher R K, Cuellar-Partida, Gabriel, Braber, Anouk Den, Doan, Nhat Trung, Ehrlich, Stefan, Filippi, Irina, Ge, Tian, Giddaluru, Sudheer, Goldman, Aaron L, Gottesman, Rebecca F, Greven, Corina U, Grimm, Oliver, Griswold, Michael E, Guadalupe, Tulio, Hass, Johanna, Haukvik, Unn K, Hilal, Saima, Hofer, Edith, Hoehn, David, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Liao, Jiemin, Liewald, David C M, Lopez, Lorna M, Luciano, Michelle, Macare, Christine, Marquand, Andre, Matarin, Mar, Mather, Karen A, Mattheisen, Manuel, Mazoyer, Bernard, McKay, David R, McWhirter, Rebekah, Milaneschi, Yuri, Mirza-Schreiber, Nazanin, Muetzel, Ryan L, Maniega, Susana Muñoz, Nho, Kwangsik, Nugent, Allison C, Loohuis, Loes M Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pappa, Irene, Pirpamer, Lukas, Pudas, Sara, Pütz, Benno, Rajan, Kumar B, Ramasamy, Adaikalavan, Richards, Jennifer S, Risacher, Shannon L, Roiz-Santiañez, Roberto, Rommelse, Nanda, Rose, Emma J, Royle, Natalie A, Rundek, Tatjana, Sämann, Philipp G, Satizabal, Claudia L, Schmaal, Lianne, Schork, Andrew J, Shen, Li, Shin, Jean, Shumskaya, Elena, Smith, Albert V, Sprooten, Emma, Strike, Lachlan T, Teumer, Alexander, Thomson, Russell, Tordesillas-Gutierrez, Diana, Toro, Roberto, Trabzuni, Daniah, Vaidya, Dhananjay, Van der Grond, Jeroen, Van der Meer, Dennis, Van Donkelaar, Marjolein M J, Van Eijk, Kristel R, Van Erp, Theo G M, Van Rooij, Daan, Walton, Esther, Westlye, Lars T, Whelan, Christopher D, Windham, Beverly G, Winkler, Anderson M, Woldehawariat, Girma, Wolf, Christiane, Wolfers, Thomas, Xu, Bing, Yanek, Lisa R, Yang, Jingyun, Zijdenbos, Alex, Zwiers, Marcel P, Agartz, Ingrid, Aggarwal, Neelum T, Almasy, Laura, Ames, David, Amouyel, Philippe, Andreassen, Ole A, Arepalli, Sampath, Assareh, Amelia A, Barral, Sandra, Bastin, Mark E, Becker, Diane M, Becker, James T, Bennett, David A, Blangero, John, van Bokhoven, Hans, Boomsma, Dorret I, Brodaty, Henry, Brouwer, Rachel M, Brunner, Han G, Buckner, Randy L, Buitelaar, Jan K, Bulayeva, Kazima B, Cahn, Wiepke, Calhoun, Vince D, Cannon, Dara M, Cavalleri, Gianpiero L, Chen, Christopher, Cheng, Ching-Yu, Cichon, Sven, Cookson, Mark R, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Czisch, Michael, Dale, Anders M, Davies, Gareth E, De Geus, Eco J C, De Jager, Philip L, de Zubicaray, Greig I, Delanty, Norman, Depondt, Chantal, DeStefano, Anita L, Dillman, Allissa, Djurovic, Srdjan, Donohoe, Gary, Drevets, Wayne C, Duggirala, Ravi, Dyer, Thomas D, Erk, Susanne, Espeseth, Thomas, Evans, Denis A, Fedko, Iryna O, Fernández, Guillén, Ferrucci, Luigi, Fisher, Simon E, Fleischman, Debra A, Ford, Ian, Foroud, Tatiana M, Fox, Peter T, Francks, Clyde, Fukunaga, Masaki, Gibbs, J Raphael, Glahn, David C, Gollub, Randy L, Göring, Harald H H, Grabe, Hans J, Green, Robert C, Gruber, Oliver, Gudnason, Vilmundur, Guelfi, Sebastian, Hansell, Narelle K, Hardy, John, Hartman, Catharina A, Hashimoto, Ryota, Hegenscheid, Katrin, Heinz, Andreas, Le Hellard, Stephanie, Hernandez, Dena G, Heslenfeld, Dirk J, Ho, Beng-Choon, Hoekstra, Pieter J, Hoffmann, Wolfgang, Hofman, Albert, Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Hottenga, Jouke-Jan, Pol, Hilleke E Hulshoff, Ikeda, Masashi, Ikram, M Kamran, Jack, Clifford R, Jenkinson, Mark, Johnson, Robert, Jönsson, Erik G, Jukema, J Wouter, Kahn, René S, Kanai, Ryota, Kloszewska, Iwona, Knopman, David S, Kochunov, Peter, Kwok, John B, Lawrie, Stephen M, Lemaître, Hervé, Liu, Xinmin, Longo, Dan L, Longstreth, W T, Lopez, Oscar L, Lovestone, Simon, Martinez, Oliver, Martinot, Jean-Luc, Mattay, Venkata S, McDonald, Colm, McIntosh, Andrew M, McMahon, Katie L, McMahon, Francis J, Mecocci, Patrizia, Melle, Ingrid, Meyer-Lindenberg, Andreas, Mohnke, Sebastian, Montgomery, Grant W, Morris, Derek W, Mosley, Thomas H, Mühleisen, Thomas W, Müller-Myhsok, Bertram, Nalls, Michael A, Nauck, Matthias, Nichols, Thomas E, Niessen, Wiro J, Nöthen, Markus M, Nyberg, Lars, Ohi, Kazutaka, Olvera, Rene L, Ophoff, Roel A, Pandolfo, Massimo, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W J H, Pike, G Bruce, Potkin, Steven G, Psaty, Bruce M, Reppermund, Simone, Rietschel, Marcella, Roffman, Joshua L, Romanczuk-Seiferth, Nina, Rotter, Jerome I, Ryten, Mina, Sacco, Ralph L, Sachdev, Perminder S, Saykin, Andrew J, Schmidt, Reinhold, Schofield, Peter R, Sigurdsson, Sigurdur, Simmons, Andy, Singleton, Andrew, Sisodiya, Sanjay M, Smith, Colin, Smoller, Jordan W, Soininen, Hilkka, Srikanth, Velandai, Steen, Vidar M, Stott, David J, Sussmann, Jessika E, Thalamuthu, Anbupalam, Tiemeier, Henning, Toga, Arthur W, Traynor, Bryan J, Troncoso, Juan, Turner, Jessica A, Tzourio, Christophe, Uitterlinden, Andre G, Hernández, Maria C Valdés, Van der Brug, Marcel, Van der Lugt, Aad, Van der Wee, Nic J A, Van Duijn, Cornelia M, Van Haren, Neeltje E M, Van T Ent, Dennis, Van Tol, Marie-Jose, Vardarajan, Badri N, Veltman, Dick J, Vernooij, Meike W, Völzke, Henry, Walter, Henrik, Wardlaw, Joanna M, Wassink, Thomas H, Weale, Michael E, Weinberger, Daniel R, Weiner, Michael W, Wen, Wei, Westman, Eric, White, Tonya, Wong, Tien Y, Wright, Clinton B, Zielke, H Ronald, Zonderman, Alan B, Deary, Ian J, DeCarli, Charles, Schmidt, Helena, Martin, Nicholas G, De Craen, Anton J M, Wright, Margaret J, Launer, Lenore J, Schumann, Gunter, Fornage, Myriam, Franke, Barbara, Debette, Stéphanie, Medland, Sarah E, Ikram, M Arfan, and Thompson, Paul M
Published: 2016

19. The Koolen-de Vries syndrome: A phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Author: Genetica Sectie Oncogenetica, Koolen, David A., Pfundt, Rolph, Linda, Katrin, Beunders, Gea, Veenstra-Knol, Hermine E., Conta, Essie H., Fortuna, Ana Maria, Gillessen-Kaesbach, Gabriele, Dugan, Sarah, Halbach, Sara, Abdul-Rahman, Omar A., Winesett, Heather M., Chung, Wendy K., Dalton, Marguerite, Dimova, Petia S., Mattina, Teresa, Prescott, Katrina, Zhang, Hui Z., Saal, Howard M., Hehir-Kwa, Jayne Y., Willemsen, Marjolein H., Ockeloen, Charlotte W., Jongmans, Marjolijn C., Van Der Aa, Nathalie, Failla, Pinella, Barone, Concetta, Avola, Emanuela, Brooks, Alice S., Kant, Sarina G., Gerkes, Erica H., Firth, Helen V., Unap, Katrin, Bird, Lynne M., Masser-Frye, Diane, Friedman, Jennifer R., Sokunbi, Modupe A., Dixit, Abhijit, Splitt, Miranda, Kukolich, Mary K., McGaughran, Julie, Coe, Bradley P., Flórez, Jess, Nadif Kasr, Nael, Brunner, Han G., Thompson, Elizabeth M., Gecz, Jozef, Romano, Corrado, Eichler, Evan E., De Vries, Bert B A, Genetica Sectie Oncogenetica, Koolen, David A., Pfundt, Rolph, Linda, Katrin, Beunders, Gea, Veenstra-Knol, Hermine E., Conta, Essie H., Fortuna, Ana Maria, Gillessen-Kaesbach, Gabriele, Dugan, Sarah, Halbach, Sara, Abdul-Rahman, Omar A., Winesett, Heather M., Chung, Wendy K., Dalton, Marguerite, Dimova, Petia S., Mattina, Teresa, Prescott, Katrina, Zhang, Hui Z., Saal, Howard M., Hehir-Kwa, Jayne Y., Willemsen, Marjolein H., Ockeloen, Charlotte W., Jongmans, Marjolijn C., Van Der Aa, Nathalie, Failla, Pinella, Barone, Concetta, Avola, Emanuela, Brooks, Alice S., Kant, Sarina G., Gerkes, Erica H., Firth, Helen V., Unap, Katrin, Bird, Lynne M., Masser-Frye, Diane, Friedman, Jennifer R., Sokunbi, Modupe A., Dixit, Abhijit, Splitt, Miranda, Kukolich, Mary K., McGaughran, Julie, Coe, Bradley P., Flórez, Jess, Nadif Kasr, Nael, Brunner, Han G., Thompson, Elizabeth M., Gecz, Jozef, Romano, Corrado, Eichler, Evan E., and De Vries, Bert B A
Published: 2016

20. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

Author: Vissers, Lisenka E L M, Bonetti, Monica, Paardekooper Overman, Jeroen, Nillesen, Willy M., Frints, Suzanna G M, De Ligt, Joep, Zampino, Giuseppe, Justino, Ana, Machado, José C., Schepens, Marga, Brunner, Han G., Veltman, Joris A., Scheffer, Hans, Gros, Piet, Costa, José L., Tartaglia, Marco, Van Der Burgt, Ineke, Yntema, Helger G., Den Hertog, Jeroen, Vissers, Lisenka E L M, Bonetti, Monica, Paardekooper Overman, Jeroen, Nillesen, Willy M., Frints, Suzanna G M, De Ligt, Joep, Zampino, Giuseppe, Justino, Ana, Machado, José C., Schepens, Marga, Brunner, Han G., Veltman, Joris A., Scheffer, Hans, Gros, Piet, Costa, José L., Tartaglia, Marco, Van Der Burgt, Ineke, Yntema, Helger G., and Den Hertog, Jeroen
Published: 2015

21. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

Author: Sub Crystal and Structural Chemistry, Crystal and Structural Chemistry, Vissers, Lisenka ELM, Bonetti, Monica, Paardekooper Overman, Jeroen, Nillesen, Willy M., Frints, Suzanna G M, de Ligt, Joep, Zampino, Giuseppe, Justino, Ana, Machado, José C., Schepens, Marga, Brunner, Han G., Veltman, Joris A., Scheffer, Hans, Gros, Piet, Costa, José L., Tartaglia, Marco, van der Burgt, Ineke, Yntema, Helger G., den Hertog, Jeroen, Sub Crystal and Structural Chemistry, Crystal and Structural Chemistry, Vissers, Lisenka ELM, Bonetti, Monica, Paardekooper Overman, Jeroen, Nillesen, Willy M., Frints, Suzanna G M, de Ligt, Joep, Zampino, Giuseppe, Justino, Ana, Machado, José C., Schepens, Marga, Brunner, Han G., Veltman, Joris A., Scheffer, Hans, Gros, Piet, Costa, José L., Tartaglia, Marco, van der Burgt, Ineke, Yntema, Helger G., and den Hertog, Jeroen
Published: 2015

22. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Author: Ockeloen, Charlotte W., Willemsen, Marjolein H., De Munnik, Sonja, Van Bon, Bregje W M, De Leeuw, Nicole, Verrips, Aad, Kant, Sarina G., Jones, Elizabeth A., Brunner, Han G., Van Loon, Rosa L E, Smeets, Eric E J, Van Haelst, Mieke M., Van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas J J, Van Heumen, Celeste C., Yntema, Helger G., Carels, Carine E L, Kleefstra, Tjitske, Ockeloen, Charlotte W., Willemsen, Marjolein H., De Munnik, Sonja, Van Bon, Bregje W M, De Leeuw, Nicole, Verrips, Aad, Kant, Sarina G., Jones, Elizabeth A., Brunner, Han G., Van Loon, Rosa L E, Smeets, Eric E J, Van Haelst, Mieke M., Van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas J J, Van Heumen, Celeste C., Yntema, Helger G., Carels, Carine E L, and Kleefstra, Tjitske
Published: 2015

23. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

Author: Hubrecht Institute with UMC, Cancer, Vissers, Lisenka E L M, Bonetti, Monica, Paardekooper Overman, Jeroen, Nillesen, Willy M., Frints, Suzanna G M, De Ligt, Joep, Zampino, Giuseppe, Justino, Ana, Machado, José C., Schepens, Marga, Brunner, Han G., Veltman, Joris A., Scheffer, Hans, Gros, Piet, Costa, José L., Tartaglia, Marco, Van Der Burgt, Ineke, Yntema, Helger G., Den Hertog, Jeroen, Hubrecht Institute with UMC, Cancer, Vissers, Lisenka E L M, Bonetti, Monica, Paardekooper Overman, Jeroen, Nillesen, Willy M., Frints, Suzanna G M, De Ligt, Joep, Zampino, Giuseppe, Justino, Ana, Machado, José C., Schepens, Marga, Brunner, Han G., Veltman, Joris A., Scheffer, Hans, Gros, Piet, Costa, José L., Tartaglia, Marco, Van Der Burgt, Ineke, Yntema, Helger G., and Den Hertog, Jeroen
Published: 2015

24. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Author: Genetica Klinische Genetica, Child Health, Genetica Groep Van Haaften, Ockeloen, Charlotte W., Willemsen, Marjolein H., De Munnik, Sonja, Van Bon, Bregje W M, De Leeuw, Nicole, Verrips, Aad, Kant, Sarina G., Jones, Elizabeth A., Brunner, Han G., Van Loon, Rosa L E, Smeets, Eric E J, Van Haelst, Mieke M., Van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas J J, Van Heumen, Celeste C., Yntema, Helger G., Carels, Carine E L, Kleefstra, Tjitske, Genetica Klinische Genetica, Child Health, Genetica Groep Van Haaften, Ockeloen, Charlotte W., Willemsen, Marjolein H., De Munnik, Sonja, Van Bon, Bregje W M, De Leeuw, Nicole, Verrips, Aad, Kant, Sarina G., Jones, Elizabeth A., Brunner, Han G., Van Loon, Rosa L E, Smeets, Eric E J, Van Haelst, Mieke M., Van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas J J, Van Heumen, Celeste C., Yntema, Helger G., Carels, Carine E L, and Kleefstra, Tjitske
Published: 2015

25. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Author: UCL - Cliniques universitaires Saint-Luc, UCL, Hoischen, Alexander, Revencu, Nicole, van Bon, Bregje W. M., Gilissen, Christian, Arts, Peer, van Lier, Bart, Steehouwer, Marloes, de Vries, Petra, de Reuver, Rick, Wieskamp, Nienke, Mortier, Geert, Devriendt, Koen, Amorim, Marta Z., Kidd, Alexa, Barbosa, Mafalda, Turner, Anne, Smith, Janine, Oley, Christina, Henderson, Alex, Hayes, Ian M., Thompson, Elizabeth M., Brunner, Han G., de Vries, Bert B. A., Veltman, Joris A., UCL - Cliniques universitaires Saint-Luc, UCL, Hoischen, Alexander, Revencu, Nicole, van Bon, Bregje W. M., Gilissen, Christian, Arts, Peer, van Lier, Bart, Steehouwer, Marloes, de Vries, Petra, de Reuver, Rick, Wieskamp, Nienke, Mortier, Geert, Devriendt, Koen, Amorim, Marta Z., Kidd, Alexa, Barbosa, Mafalda, Turner, Anne, Smith, Janine, Oley, Christina, Henderson, Alex, Hayes, Ian M., Thompson, Elizabeth M., Brunner, Han G., de Vries, Bert B. A., and Veltman, Joris A.
Abstract: Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital malformations; most affected individuals die before the age of ten. We sequenced the exomes of four affected individuals (cases) and found heterozygous de novo variants in SETBP1 in all four. We also identified SETBP1 mutations in eight additional cases using Sanger sequencing. All mutations clustered to a highly conserved 11-bp exonic region, suggesting a dominant-negative or gain-of-function effect.
Published: 2010

26. Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene

Author: Rinne, Tuula, Spadoni, Emanuela, Kjaer, Klaus W., Danesino, Cesare, Larizza, Daniela, Kock, Marianne, Huoponen, Kirsi, Savontaus, Marja-Liisa, Aaltonen, Markku, Duijf, Pascal H.G., Brunner, Han G., Penttinen, Maila, van Bokhoven, Hans, Rinne, Tuula, Spadoni, Emanuela, Kjaer, Klaus W., Danesino, Cesare, Larizza, Daniela, Kock, Marianne, Huoponen, Kirsi, Savontaus, Marja-Liisa, Aaltonen, Markku, Duijf, Pascal H.G., Brunner, Han G., Penttinen, Maila, and van Bokhoven, Hans
Abstract: The ADULT syndrome (Acro-Dermato-Ungual-Lacrimal-Tooth, OMIM 103285) is a rare ectodermal dysplasia associated with limb malformations and caused by heterozygous mutations in p63. ADULT syndrome has clinical overlap with other p63 mutation syndromes, such as EEC (OMIM 604292), LMS (OMIM 603543), AEC (106260), RHS (129400) and SHFM4 (605289). ADULT syndrome characteristics are ectrodactyly, ectodermal dysplasia, mammary gland hypoplasia and normal lip and palate. The latter findings allow differentiation from EEC syndrome. LMS differs by milder ectodermal involvement. Here, we report three new unrelated ADULT syndrome families, all with mutations of arginine 298. On basis of 16 patients in five families with R298 mutation, we delineate the ADULT syndrome phenotype. In addition, we have documented a gain-of-function effect on the dNp63gamma isoform caused by this mutation. We discuss the possible relevance of oral squamous cell carcinoma in one patient, who carries this p63 germline mutation.
Published: 2006

27. Novel genetic loci associated with hippocampal volume

Author: Hibar, Derrek P., Adams, Hieab H. H., Jahanshad, Neda, Chauhan, Ganesh, Stein, Jason L., Hofer, Edith, Renteria, Miguel E., Bis, Joshua C., Arias-Vasquez, Alejandro, Ikram, M. Kamran, Desrivières, Sylvane, Vernooij, Meike W., Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S., Armstrong, Nicola J., Athanasiu, Lavinia, Axelsson, Tomas, Beecham, Ashley H., Beiser, Alexa, Bernard, Manon, Blanton, Susan H., Bohlken, Marc M., Boks, Marco P., Bralten, Janita, Brickman, Adam M., Carmichael, Owen, Chakravarty, M. Mallar, Chen, Qiang, Ching, Christopher R. K., Chouraki, Vincent, Cuellar-Partida, Gabriel, Crivello, Fabrice, Den Braber, Anouk, Doan, Nhat Trung, Ehrlich, Stefan, Giddaluru, Sudheer, Goldman, Aaron L., Gottesman, Rebecca F., Grimm, Oliver, Griswold, Michael E., Guadalupe, Tulio, Gutman, Boris A., Hass, Johanna, Haukvik, Unn K., Hoehn, David, Holmes, Avram J., Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Jørgensen, Kjetil N., Karbalai, Nazanin, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H., Liewald, David C. M., Lopez, Lorna M., Luciano, Michelle, Macare, Christine, Marquand, Andre F., Matarin, Mar, Mather, Karen A., Mattheisen, Manuel, McKay, David R., Milaneschi, Yuri, Muñoz Maniega, Susana, Nho, Kwangsik, Nugent, Allison C., Nyquist, Paul, Loohuis, Loes M. Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pirpamer, Lukas, Pütz, Benno, Ramasamy, Adaikalavan, Richards, Jennifer S., Risacher, Shannon L., Roiz-Santiañez, Roberto, Rommelse, Nanda, Ropele, Stefan, Rose, Emma J., Royle, Natalie A., Rundek, Tatjana, Sämann, Philipp G., Saremi, Arvin, Satizabal, Claudia L., Schmaal, Lianne, Schork, Andrew J., Shen, Li, Shin, Jean, Shumskaya, Elena, Smith, Albert V., Sprooten, Emma, Strike, Lachlan T., Teumer, Alexander, Tordesillas-Gutierrez, Diana, Toro, Roberto, Trabzuni, Daniah, Trompet, Stella, Vaidya, Dhananjay, Van der Grond, Jeroen, Van der Lee, Sven J., Van der Meer, Dennis, Van Donkelaar, Marjolein M. J., Van Eijk, Kristel R., Van Erp, Theo G. M., Van Rooij, Daan, Walton, Esther, Westlye, Lars T., Whelan, Christopher D., Windham, Beverly G., Winkler, Anderson M., Wittfeld, Katharina, Woldehawariat, Girma, Wolf, Christiane, Wolfers, Thomas, Yanek, Lisa R., Yang, Jingyun, Zijdenbos, Alex, Zwiers, Marcel P., Agartz, Ingrid, Almasy, Laura, Ames, David, Amouyel, Philippe, Andreassen, Ole A., Arepalli, Sampath, Assareh, Amelia A., Barral, Sandra, Bastin, Mark E., Becker, Diane M., Becker, James T., Bennett, David A., Blangero, John, van Bokhoven, Hans, Boomsma, Dorret I., Brodaty, Henry, Brouwer, Rachel M., Brunner, Han G., Buckner, Randy L., Buitelaar, Jan K., Bulayeva, Kazima B., Cahn, Wiepke, Calhoun, Vince D., Cannon, Dara M., Cavalleri, Gianpiero L., Cheng, Ching-Yu, Cichon, Sven, Cookson, Mark R., Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E., Czisch, Michael, Dale, Anders M., Davies, Gareth E., De Craen, Anton J. M., De Geus, Eco J. C., De Jager, Philip L., De Zubicaray, Greig I., Deary, Ian J., Debette, Stéphanie, DeCarli, Charles, Delanty, Norman, Depondt, Chantal, DeStefano, Anita, Dillman, Allissa, Djurovic, Srdjan, Donohoe, Gary, Drevets, Wayne C., Duggirala, Ravi, Dyer, Thomas D., Enzinger, Christian, Erk, Susanne, Espeseth, Thomas, Fedko, Iryna O., Fernández, Guillén, Ferrucci, Luigi, Fisher, Simon E., Fleischman, Debra A., Ford, Ian, Fornage, Myriam, Foroud, Tatiana M., Fox, Peter T., Francks, Clyde, Fukunaga, Masaki, Gibbs, J. Raphael, Glahn, David C., Gollub, Randy L., Göring, Harald H. H., Green, Robert C., Gruber, Oliver, Gudnason, Vilmundur, Guelfi, Sebastian, Håberg, Asta K., Hansell, Narelle K., Hardy, John, Hartman, Catharina A., Hashimoto, Ryota, Hegenscheid, Katrin, Heinz, Andreas, Le Hellard, Stephanie, Hernandez, Dena G., Heslenfeld, Dirk J., Ho, Beng-Choon, Hoekstra, Pieter J., Hoffmann, Wolfgang, Hofman, Albert, Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Hottenga, Jouke-Jan, Huentelman, Matthew, Pol, Hilleke E. Hulshoff, Ikeda, Masashi, Jack Jr, Clifford R., Jenkinson, Mark, Johnson, Robert, Jönsson, Erik G., Jukema, J. Wouter, Kahn, René S., Kanai, Ryota, Kloszewska, Iwona, Knopman, David S., Kochunov, Peter, Kwok, John B., Lawrie, Stephen M., Lemaître, Hervé, Liu, Xinmin, Longo, Dan L., Lopez, Oscar L., Lovestone, Simon, Martinez, Oliver, Martinot, Jean-Luc, Mattay, Venkata S., McDonald, Colm, McIntosh, Andrew M., McMahon, Francis J., McMahon, Katie L., Mecocci, Patrizia, Melle, Ingrid, Meyer-Lindenberg, Andreas, Mohnke, Sebastian, Montgomery, Grant W., Morris, Derek W., Mosley, Thomas H., Mühleisen, Thomas W., Müller-Myhsok, Bertram, Nalls, Michael A., Nauck, Matthias, Nichols, Thomas E., Niessen, Wiro J., Nöthen, Markus M., Nyberg, Lars, Ohi, Kazutaka, Olvera, Rene L., Ophoff, Roel A., Pandolfo, Massimo, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W. J. H., Pike, G. Bruce, Potkin, Steven G., Psaty, Bruce M., Reppermund, Simone, Rietschel, Marcella, Roffman, Joshua L., Romanczuk-Seiferth, Nina, Rotter, Jerome I., Ryten, Mina, Sacco, Ralph L., Sachdev, Perminder S., Saykin, Andrew J., Schmidt, Reinhold, Schmidt, Helena, Schofield, Peter R., Sigursson, Sigurdur, Simmons, Andrew, Singleton, Andrew, Sisodiya, Sanjay M., Smith, Colin, Smoller, Jordan W., Soininen, Hilkka, Steen, Vidar M., Stott, David J., Sussmann, Jessika E., Thalamuthu, Anbupalam, Toga, Arthur W., Traynor, Bryan J., Troncoso, Juan, Tsolaki, Magda, Tzourio, Christophe, Uitterlinden, Andre G., Hernández, Maria C. Valdés, Van der Brug, Marcel, van der Lugt, Aad, van der Wee, Nic J. A., Van Haren, Neeltje E. M., van 't Ent, Dennis, Van Tol, Marie-Jose, Vardarajan, Badri N., Vellas, Bruno, Veltman, Dick J., Völzke, Henry, Walter, Henrik, Wardlaw, Joanna M., Wassink, Thomas H., Weale, Michael E., Weinberger, Daniel R., Weiner, Michael W., Wen, Wei, Westman, Eric, White, Tonya, Wong, Tien Y., Wright, Clinton B., Zielke, Ronald H., Zonderman, Alan B., Martin, Nicholas G., Van Duijn, Cornelia M., Wright, Margaret J., Longstreth, W. T., Schumann, Gunter, Grabe, Hans J., Franke, Barbara, Launer, Lenore J., Medland, Sarah E., Seshadri, Sudha, Thompson, Paul M., and Ikram, M. Arfan
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: 2017
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28. Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.

Author: Schobers G, Pennings M, de Vries J, Kwint M, van Reeuwijk J, Corominas Galbany J, van Beek R, Kamping E, Timmermans R, Kamsteeg EJ, Haer-Wigman L, Cremers FPM, Roosing S, Gilissen C, Kremer H, Brunner HG, Yntema HG, and Vissers LELM
Abstract: Clinical exome sequencing (ES) has facilitated genetic diagnosis in individuals with a rare genetic disorder by analysis of all protein-coding sequences in a single experiment. However, in 40-60% of patients, a conclusive diagnosis remains elusive. In 2-5% of these individuals, ES does identify a disease-associated monoallelic variant in a recessive disorder. We hypothesized that short-read genome sequencing (GS) might uncover a pathogenic variant on the second allele, thereby increasing diagnostic yield. We performed GS for 174 individuals in whom ES identified a monoallelic pathogenic variant in a gene associated with recessive disease related to their phenotype. GS interpretation was limited to the (non-)coding parts of the gene in which this first pathogenic variant was identified, focusing on splice-disrupting variants. Firstly, we uncovered a second pathogenic variant affecting coding sequence in five individuals, including two SNV/indel variants, two copy number variants, and one insertion. Secondly, for 24 individuals, we identified a total of 31 rare non-coding intronic SNV/indel variants, all predicted to disrupt splicing. Using functional follow-up assays, we confirmed an effect on splicing for three of these variants (in ABCA4, POLR3A and COL4A4) in three individuals. In summary, we identified a (likely) pathogenic second variant in 4.6% (8/174), and a possible diagnosis for 12.1% (21/174) of our cohort. Hence, when performing GS as first-tier diagnostic test, including the interpretation of SVs and rare intronic variants in known recessive disease genes, the overall diagnostic yield of rare disease will increase. The added diagnostic value of GS for recessive disease In our cohort of 174 individuals (84 males and 90 females) with a monoallelic pathogenic variant in genes associated with a wide and diverse range of recessive diseases (pie chart), using genome sequencing (GS) and a systematic approach (methods), we identified eight new diagnoses (4.6%). We identified a second likely pathogenic variant in eight individuals (results); In two a second coding variant was found, in three others, a rare non-coding SNV anticipated to disrupt splicing was uncovered, and in three individuals a structural rearrangement was identified (two copy number variants (CNV), and one structural variant (SV))., (© 2024. The Author(s), under exclusive licence to European Society of Human Genetics.)
Published: 2024
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29. Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy.

Author: Stroeks SLVM, Hellebrekers D, Claes GRF, Krapels IPC, Henkens MHTM, Sikking M, Vanhoutte EK, Helderman-van den Enden A, Brunner HG, van den Wijngaard A, and Verdonschot JAJ
Subjects: Humans, Prognosis, Genetic Testing, Phenotype, Cardiomyopathy, Dilated diagnosis, Cardiomyopathy, Dilated genetics, Cardiomyopathies genetics
Abstract: It was previously suggested that increasing the number of genes on diagnostic gene panels could increase the genetic yield in patient with dilated cardiomyopathy (DCM). We explored the diagnostic and prognostic relevance of testing DCM patients with an expanded gene panel. The current study included 225 consecutive DCM patients who had no genetic diagnosis after a 48-gene cardiomyopathy-panel. These were then evaluated using an expanded gene panel of 299 cardiac-associated genes. A likely pathogenic/pathogenic (P/LP) variant was detected in 13 patients. Five variants were reclassifications of variants found in genes which were already detected using the 48 gene panel. Only one of the other eight variants could explain the phenotype of the patient (KCNJ2). The panel detected 186 VUSs in 127 patients (of which 6 also had a P/LP variant). The presence of a VUS was significantly associated with the combined end-point of mortality, heart failure hospitalization, heart transplantation or life-threatening arrhythmias(HR, 2.04 [95% CI, 1.15 to 3.65]; p = 0.02). The association of a VUS with prognosis remained when we only included VUSs in robust DCM-associated genes (high suspicious VUSs), but disappeared when we only included VUSs in non-robust DCM-associated genes (low suspicious VUSs), highlighting the importance of weighing of VUSs. Overall, the use of large gene panels for genetic testing in DCM does not increase the diagnostic yield, although a VUS in a robust DCM-associated gene is associated with an adverse prognosis. Altogether, current diagnostic gene panels should be limited to the robust DCM-associated genes., (© 2023. The Author(s), under exclusive licence to European Society of Human Genetics.)
Published: 2023
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30. The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.

Author: van der Sanden BPGH, Schobers G, Corominas Galbany J, Koolen DA, Sinnema M, van Reeuwijk J, Stumpel CTRM, Kleefstra T, de Vries BBA, Ruiterkamp-Versteeg M, Leijsten N, Kwint M, Derks R, Swinkels H, den Ouden A, Pfundt R, Rinne T, de Leeuw N, Stegmann AP, Stevens SJ, van den Wijngaard A, Brunner HG, Yntema HG, Gilissen C, Nelen MR, and Vissers LELM
Subjects: Humans, Genetic Testing methods, Base Sequence, Chromosome Mapping, Exome Sequencing, Neurodevelopmental Disorders diagnosis, Neurodevelopmental Disorders genetics
Abstract: Genome sequencing (GS) can identify novel diagnoses for patients who remain undiagnosed after routine diagnostic procedures. We tested whether GS is a better first-tier genetic diagnostic test than current standard of care (SOC) by assessing the technical and clinical validity of GS for patients with neurodevelopmental disorders (NDD). We performed both GS and exome sequencing in 150 consecutive NDD patient-parent trios. The primary outcome was diagnostic yield, calculated from disease-causing variants affecting exonic sequence of known NDD genes. GS (30%, n = 45) and SOC (28.7%, n = 43) had similar diagnostic yield. All 43 conclusive diagnoses obtained with SOC testing were also identified by GS. SOC, however, required integration of multiple test results to obtain these diagnoses. GS yielded two more conclusive diagnoses, and four more possible diagnoses than ES-based SOC (35 vs. 31). Interestingly, these six variants detected only by GS were copy number variants (CNVs). Our data demonstrate the technical and clinical validity of GS to serve as routine first-tier genetic test for patients with NDD. Although the additional diagnostic yield from GS is limited, GS comprehensively identified all variants in a single experiment, suggesting that GS constitutes a more efficient genetic diagnostic workflow., (© 2022. The Author(s).)
Published: 2023
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31. Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

Author: van der Schoot V, Haer-Wigman L, Feenstra I, Tammer F, Oerlemans AJM, van Koolwijk MPA, van Agt F, Arens YHJM, Brunner HG, Vissers LELM, and Yntema HG
Subjects: Genetic Testing, Humans, Exome Sequencing, Disclosure, Exome
Abstract: Unsolicited findings (UFs) are uncovered unintentionally and predispose to a disease unrelated to the clinical question. The frequency and nature of UFs uncovered in clinical practice remain largely unexplored. We here evaluated UFs identified during a 5-year period in which 16,482 index patients received clinical whole-exome sequencing (WES). UFs were identified in 0.58% (95/16,482) of index patients, indicating that the overall frequency of UFs in clinical WES is low. Fewer UFs were identified using restricted disease-gene panels (0.03%) than when using whole-exome/Mendeliome analysis (1.03%). The UF was disclosed to 86 of 95 individuals, for reasons of medical actionability. Only 61% of these UFs reside in a gene that is listed on the "ACMG59"-list, representing a list of 59 genes for which the American College of Medical Genetics recommends UF disclosure. The remaining 39% were grouped into four categories: disorders similar to "ACMG59"-listed disorders (25%); disorders for which disease manifestation could be influenced (7%); UFs providing reproductive options (2%); and UFs with pharmacogenetic implications (5%). Hence, our experience shows that UFs predisposing to medically actionable disorders affect a broader range of genes than listed on the "ACMG59", advocating that a pre-defined gene list is too restrictive, and that UFs may require ad hoc evaluation of medical actionability. While both the identification and disclosure of UFs depend on local policy, our lessons learned provide general essential insight into the nature and odds of UFs in clinical exome sequencing., (© 2021. The Author(s).)
Published: 2022
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32. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.

Author: Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, and Graessner H
Subjects: Consensus Development Conferences as Topic, Europe, Genetic Diseases, Inborn diagnosis, Genetic Testing methods, Humans, Rare Diseases diagnosis, Exome Sequencing methods, Genetic Diseases, Inborn genetics, Information Dissemination, Intersectoral Collaboration, Rare Diseases genetics
Abstract: For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe., (© 2021. The Author(s).)
Published: 2021
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33. The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study.

Author: Schoot VV, Viellevoije SJ, Tammer F, Brunner HG, Arens Y, Yntema HG, and Oerlemans AJM
Subjects: Adult, Aged, Disclosure ethics, Female, Genetic Counseling psychology, Genetic Testing methods, Humans, Male, Middle Aged, Surveys and Questionnaires, Exome Sequencing methods, Attitude, Genetic Testing ethics, Incidental Findings, Exome Sequencing ethics
Abstract: Unsolicited findings (UFs) in clinical exome sequencing are variants that are unrelated to the initial clinical question the DNA test was performed for, but that may nonetheless be of medical relevance to patients and/or their families. There is limited knowledge about the impact of UFs on patients' lives. In order to characterise patient perceptions of the impact of an UF, we conducted 20 semi-structured face-to-face interviews with patients and/or their relatives to whom an UF predisposing to oncological disease (n = 10) or predisposing to a cardiac condition (n = 10) had been disclosed. We have identified a psychological, physical and financial aspect of the perceived impact of UF disclosure in exome sequencing. Actionability, understanding, patients' pre-test health and social context were influencing factors, according to our participants. Although most expressed considerable psychological impact initially, all but one participant would choose to undergo genetic testing again, knowing what they know now. These novel findings provide insight in patients' perspectives on the impact of UF disclosure. Our study highlights the value of incorporating patients' perceptions in UF disclosure policy.
Published: 2021
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34. Correction: Long-read trio sequencing of individuals with unsolved intellectual disability.

Author: Pauper M, Kucuk E, Wenger AM, Chakraborty S, Baybayan P, Kwint M, van der Sanden B, Nelen MR, Derks R, Brunner HG, Hoischen A, Vissers LELM, and Gilissen C
Published: 2021
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35. Long-read trio sequencing of individuals with unsolved intellectual disability.

Author: Pauper M, Kucuk E, Wenger AM, Chakraborty S, Baybayan P, Kwint M, van der Sanden B, Nelen MR, Derks R, Brunner HG, Hoischen A, Vissers LELM, and Gilissen C
Subjects: Humans, Intellectual Disability diagnosis, Mutation, Pedigree, Polymorphism, Genetic, Genetic Testing methods, Intellectual Disability genetics, Sequence Analysis, DNA methods
Abstract: Long-read sequencing (LRS) has the potential to comprehensively identify all medically relevant genome variation, including variation commonly missed by short-read sequencing (SRS) approaches. To determine this potential, we performed LRS around 15×-40× genome coverage using the Pacific Biosciences Sequel I System for five trios. The respective probands were diagnosed with intellectual disability (ID) whose etiology remained unresolved after SRS exomes and genomes. Systematic assessment of LRS coverage showed that ~35 Mb of the human reference genome was only accessible by LRS and not SRS. Genome-wide structural variant (SV) calling yielded on average 28,292 SV calls per individual, totaling 12.9 Mb of sequence. Trio-based analyses which allowed to study segregation, showed concordance for up to 95% of these SV calls across the genome, and 80% of the LRS SV calls were not identified by SRS. De novo mutation analysis did not identify any de novo SVs, confirming that these are rare events. Because of high sequence coverage, we were also able to call single nucleotide substitutions. On average, we identified 3 million substitutions per genome, with a Mendelian inheritance concordance of up to 97%. Of these, ~100,000 were located in the ~35 Mb of the genome that was only captured by LRS. Moreover, these variants affected the coding sequence of 64 genes, including 32 known Mendelian disease genes. Our data show the potential added value of LRS compared to SRS for identifying medically relevant genome variation.
Published: 2021
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36. Evidence for 28 genetic disorders discovered by combining healthcare and research data.

Author: Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG, Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, and Retterer K
Subjects: Cohort Studies, DNA Copy Number Variations genetics, Developmental Disabilities diagnosis, Europe, Female, Genetic Diseases, Inborn diagnosis, Germ-Line Mutation genetics, Haploinsufficiency genetics, Humans, Male, Mutation, Missense genetics, Penetrance, Perinatal Death, Sample Size, DNA Mutational Analysis, Data Analysis, Databases, Genetic, Datasets as Topic, Delivery of Health Care statistics & numerical data, Developmental Disabilities genetics, Genetic Diseases, Inborn genetics
Abstract: De novo mutations in protein-coding genes are a well-established cause of developmental disorders 1 . However, genes known to be associated with developmental disorders account for only a minority of the observed excess of such de novo mutations 1,2 . Here, to identify previously undescribed genes associated with developmental disorders, we integrate healthcare and research exome-sequence data from 31,058 parent-offspring trios of individuals with developmental disorders, and develop a simulation-based statistical test to identify gene-specific enrichment of de novo mutations. We identified 285 genes that were significantly associated with developmental disorders, including 28 that had not previously been robustly associated with developmental disorders. Although we detected more genes associated with developmental disorders, much of the excess of de novo mutations in protein-coding genes remains unaccounted for. Modelling suggests that more than 1,000 genes associated with developmental disorders have not yet been described, many of which are likely to be less penetrant than the currently known genes. Research access to clinical diagnostic datasets will be critical for completing the map of genes associated with developmental disorders.
Published: 2020
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37. Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.

Author: van de Putte R, van Rooij IALM, Marcelis CLM, Guo M, Brunner HG, Addor MC, Cavero-Carbonell C, Dias CM, Draper ES, Etxebarriarteun L, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, Kurinczuk JJ, Lanzoni M, Latos-Bielenska A, Luyt K, O'Mahony MT, Miller N, Mullaney C, Nelen V, Neville AJ, Perthus I, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wiesel A, Zymak-Zakutnia N, Loane M, Barisic I, de Walle HEK, Roeleveld N, and Bergman JEH
Subjects: Consensus, Databases, Factual, Europe epidemiology, Genetic Predisposition to Disease, Heart Defects, Congenital classification, Heart Defects, Congenital epidemiology, Heart Defects, Congenital genetics, Humans, International Classification of Diseases, Limb Deformities, Congenital classification, Limb Deformities, Congenital epidemiology, Limb Deformities, Congenital genetics, Phenotype, Predictive Value of Tests, Prevalence, Terminology as Topic, Anal Canal abnormalities, Esophagus abnormalities, Heart Defects, Congenital diagnosis, Kidney abnormalities, Limb Deformities, Congenital diagnosis, Spine abnormalities, Trachea abnormalities
Abstract: Background: The VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association is the non-random occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheo-esophageal, renal, and limb anomalies. Diagnosing VACTERL patients is difficult, as many disorders have multiple features in common with VACTERL. The aims of this study were to clearly outline component features, describe the phenotypic spectrum among the largest group of VACTERL patients thus far reported, and to identify phenotypically similar subtypes., Methods: A case-only study was performed assessing data on 501 cases recorded with VACTERL in the JRC-EUROCAT (Joint Research Centre-European Surveillance of Congenital Anomalies) central database (birth years: 1980-2015). We differentiated between major and minor VACTERL features and anomalies outside the VACTERL spectrum to create a clear definition of VACTERL., Results: In total, 397 cases (79%) fulfilled our VACTERL diagnostic criteria. The most commonly observed major VACTERL features were anorectal malformations and esophageal atresia/tracheo-esophageal fistula (both occurring in 62% of VACTERL cases), followed by cardiac (57%), renal (51%), vertebral (33%), and limb anomalies (25%), in every possible combination. Three VACTERL subtypes were defined: STRICT-VACTERL, VACTERL-LIKE, and VACTERL-PLUS, based on severity and presence of additional congenital anomalies., Conclusion: The clearly defined VACTERL component features and the VACTERL subtypes introduced will improve both clinical practice and etiologic research.
Published: 2020
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38. Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.

Author: van Tienen FHJ, Lindsey PJ, Kamps MAF, Krapels IP, Ramaekers FCS, Brunner HG, van den Wijngaard A, and Broers JLV
Subjects: Cells, Cultured, Cytogenetics methods, Fibroblasts metabolism, Humans, Cell Nucleus pathology, Fibroblasts pathology, Genetic Testing methods, Lamin Type A genetics
Abstract: The phenotypic heterogeneity of Lamin A/C (LMNA) variants renders it difficult to classify them. As a consequence, many LMNA variants are classified as variant of unknown significance (VUS). A number of studies reported different types of visible nuclear abnormalities in LMNA-variant carriers, such as herniations, honeycomb-like structures and irregular Lamin staining. In this study, we used lamin A/C immunostaining and nuclear DAPI staining to assess the number and type of nuclear abnormalities in primary dermal fibroblast cultures of laminopathy patients and healthy controls. The total number of abnormal nuclei, which includes herniations, honeycomb-structures, and donut-like nuclei, was found to be the most discriminating parameter between laminopathy and control cell cultures. The percentage abnormal nuclei was subsequently scored in fibroblasts of 28 LMNA variant carriers, ranging from (likely) benign to (likely) pathogenic variant. Using this method, 27 out of 28 fibroblast cell cultures could be classified as either normal (n = 14) or laminopathy (n = 13) and no false positive results were obtained. The obtained specificity was 100% (CI 40-100%) and sensitivity 77% (46-95%). We conclude that assessing the percentage of abnormal nuclei is a quick and reliable method, which aids classification or confirms pathogenicity of identified LMNA variants causing formation of aberrant lamin A/C protein.
Published: 2019
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39. 1 in 38 individuals at risk of a dominant medically actionable disease.

Author: Haer-Wigman L, van der Schoot V, Feenstra I, Vulto-van Silfhout AT, Gilissen C, Brunner HG, Vissers LELM, and Yntema HG
Subjects: Genetic Diseases, Inborn genetics, Genetic Predisposition to Disease genetics, Healthy Volunteers, Heterozygote, Humans, Netherlands, Exome Sequencing statistics & numerical data, Genes, Dominant, Genetic Diseases, Inborn epidemiology, Genetic Predisposition to Disease epidemiology, Genetic Testing statistics & numerical data
Abstract: Clinical genomic sequencing can identify pathogenic variants unrelated to the initial clinical question, but of medical relevance to the patients and their families. With ongoing discussions on the utility of disclosing or searching for such variants, it is of crucial importance to obtain unbiased insight in the prevalence of these incidental or secondary findings, in order to better weigh potential risks and benefits. Previous studies have reported a broad range of secondary findings ranging from 1 to 9%, merely attributable to differences in study design, cohorts tested, sequence technology used and genes analyzed. Here, we analyzed WES data of 1640 anonymized healthy Dutch individuals to establish the frequency of medically actionable disease alleles in an outbred population of European descent. Our study shows that 1 in 38 healthy individuals (2.7%) has a (likely) pathogenic variant in one of 59 medically actionable dominant disease genes for which the American College of Medical Genetics and Genomics (ACMG) recommends disclosure. Additionally, we identified 36 individuals (2.2%) to be a carrier of a recessive pathogenic disease allele. Whereas these frequencies of secondary findings are in line with what has been reported in the East-Asian population, the pathogenic variants are differently distributed across the 59 ACMG genes. Our results contribute to the debate on genetic risk factor screening in healthy individuals and the discussion whether the potential benefits of this knowledge and related preventive options, outweigh the risk of the emotional impact of the test result and possible stigmatization.
Published: 2019
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40. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

Author: Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, Hackett A, Kleefstra T, Koolen D, Kvarnung M, Larsen MJ, Marcelis C, McKenzie F, Monin ML, Nava C, Schuurs-Hoeijmakers JH, Pfundt R, Steehouwer M, Stevens SJC, Stumpel CT, Vansenne F, Vinci M, van de Vorst M, Vries P, Witherspoon K, Veltman JA, Brunner HG, Mefford HC, Romano C, Vissers LELM, Eichler EE, and de Vries BBA
Subjects: Adolescent, Adult, Child, Female, Genetic Testing standards, Haploinsufficiency, Humans, Male, Reproducibility of Results, Sequence Analysis, DNA methods, Sequence Analysis, DNA standards, Syndrome, Genetic Testing methods, Genotype, Intellectual Disability genetics, Intracellular Signaling Peptides and Proteins genetics, Overweight genetics
Abstract: Genotype-first combined with reverse phenotyping has shown to be a powerful tool in human genetics, especially in the era of next generation sequencing. This combines the identification of individuals with mutations in the same gene and linking these to consistent (endo)phenotypes to establish disease causality. We have performed a MIP (molecular inversion probe)-based targeted re-sequencing study in 3,275 individuals with intellectual disability (ID) to facilitate a genotype-first approach for 24 genes previously implicated in ID.Combining our data with data from a publicly available database, we confirmed 11 of these 24 genes to be relevant for ID. Amongst these, PHIP was shown to have an enrichment of disruptive mutations in the individuals with ID (5 out of 3,275). Through international collaboration, we identified a total of 23 individuals with PHIP mutations and elucidated the associated phenotype. Remarkably, all 23 individuals had developmental delay/ID and the majority were overweight or obese. Other features comprised behavioral problems (hyperactivity, aggression, features of autism and/or mood disorder) and dysmorphisms (full eyebrows and/or synophrys, upturned nose, large ears and tapering fingers). Interestingly, PHIP encodes two protein-isoforms, PHIP/DCAF14 and NDRP, each involved in neurodevelopmental processes, including E3 ubiquitination and neuronal differentiation. Detailed genotype-phenotype analysis points towards haploinsufficiency of PHIP/DCAF14, and not NDRP, as the underlying cause of the phenotype.Thus, we demonstrated the use of large scale re-sequencing by MIPs, followed by reverse phenotyping, as a constructive approach to verify candidate disease genes and identify novel syndromes, highlighted by PHIP haploinsufficiency causing an ID-overweight syndrome.
Published: 2018
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41. Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.

Author: Riemersma M, Hazebroek MR, Helderman-van den Enden ATJM, Salomons GS, Ferdinandusse S, Brouwers MCGJ, van der Ploeg L, Heymans S, Glatz JFC, van den Wijngaard A, Krapels IPC, Bierau J, and Brunner HG
Subjects: Adult, Aged, Aged, 80 and over, Cardiomyopathy, Dilated blood, Cardiomyopathy, Dilated etiology, Cardiomyopathy, Dilated urine, Cells, Cultured, Female, Fibroblasts metabolism, Heterozygote, Humans, Male, Methylmalonyl-CoA Decarboxylase metabolism, Middle Aged, Mutation, Pedigree, Propionic Acidemia genetics, Cardiomyopathy, Dilated genetics, Methylmalonyl-CoA Decarboxylase genetics, Propionic Acidemia complications
Abstract: Dilated cardiomyopathy (DCM) is extremely heterogeneous with a large proportion due to dominantly inherited disease-causing variants in sarcomeric genes. Recessive metabolic diseases may cause DCM, usually with onset in childhood, and in the context of systemic disease. Whether metabolic defects can also cause adult-onset DCM is currently unknown. Therefore, we performed an extensive metabolic screening in 36 consecutive adult-onset DCM patients. Diagnoses were confirmed by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA). Measurement of propionyl-CoA carboxylase (PCC) activity was done in fibroblasts. Whole exome sequencing (WES) data of 157 additional DCM patients were analyzed for genetic defects. We found a metabolic profile characteristic for propionic acidemia in a patient with severe DCM from 55 years of age. Genetic analysis demonstrated compound heterozygous variants in PCCA. Enzymatic activity of PCC in fibroblasts was markedly reduced. A targeted analysis of the PCCA and PCCB genes using available WES data from 157 further DCM patients subsequently identified another patient with propionic acidemia. This patient had compound heterozygous variants in PCCB, and developed severe DCM from 42 years of age. Adult-onset DCM can be caused by propionic acidemia, an autosomal recessive inheritable metabolic disorder usually presenting as neonatal or childhood disease. Current guidelines advise a low-protein diet to ameliorate or prevent detrimental aspects of the disease. Long-term follow-up of a larger group of patients may show whether this diet would also ameliorate DCM. Our results suggest that diagnostic metabolic screening to identify propionic acidemia and related disorders in DCM patients is justified.
Published: 2017
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42. Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.

Author: Paulussen AD, Steyls A, Vanoevelen J, van Tienen FH, Krapels IP, Claes GR, Chocron S, Velter C, Tan-Sindhunata GM, Lundin C, Valenzuela I, Nagy B, Bache I, Maroun LL, Avela K, Brunner HG, Smeets HJ, Bakkers J, and van den Wijngaard A
Subjects: Animals, Dextrocardia diagnosis, Female, Fetus pathology, Genetic Diseases, X-Linked diagnosis, HeLa Cells, Heterotaxy Syndrome diagnosis, Homeodomain Proteins metabolism, Humans, Infant, Newborn, Male, Pregnancy, Protein Transport, Transcription Factors metabolism, Zebrafish, Dextrocardia genetics, Gene Deletion, Genetic Diseases, X-Linked genetics, Heterotaxy Syndrome genetics, Homeodomain Proteins genetics, Mutation, Missense, Transcription Factors genetics
Abstract: Variants in the ZIC3 gene are rare, but have demonstrated their profound clinical significance in X-linked heterotaxy, affecting in particular male patients with abnormal arrangement of thoracic and visceral organs. Several reports have shown relevance of ZIC3 gene variants in both familial and sporadic cases and with a predominance of mutations detected in zinc-finger domains. No studies so far have assessed the functional consequences of ZIC3 variants in an in vivo model organism. A study population of 348 patients collected over more than 10 years with a large variety of congenital heart disease including heterotaxy was screened for variants in the ZIC3 gene. Functional effects of three variants were assessed both in vitro and in vivo in the zebrafish. We identified six novel pathogenic variants (1,7%), all in either male patients with heterotaxy (n=5) or a female patient with multiple male deaths due to heterotaxy in the family (n=1). All variants were located within the zinc-finger domains or leading to a truncation before these domains. Truncating variants showed abnormal trafficking of mutated ZIC3 proteins, whereas the missense variant showed normal trafficking. Overexpression of wild-type and mutated ZIC protein in zebrafish showed full non-functionality of the two frame-shift variants and partial activity of the missense variant compared with wild-type, further underscoring the pathogenic character of these variants. Concluding, we greatly expanded the number of causative variants in ZIC3 and delineated the functional effects of three variants using in vitro and in vivo model systems.
Published: 2016
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43. Novel genetic loci underlying human intracranial volume identified through genome-wide association.

Author: Adams HH, Hibar DP, Chouraki V, Stein JL, Nyquist PA, Rentería ME, Trompet S, Arias-Vasquez A, Seshadri S, Desrivières S, Beecham AH, Jahanshad N, Wittfeld K, Van der Lee SJ, Abramovic L, Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T, Beiser A, Bernard M, Bis JC, Blanken LM, Blanton SH, Bohlken MM, Boks MP, Bralten J, Brickman AM, Carmichael O, Chakravarty MM, Chauhan G, Chen Q, Ching CR, Cuellar-Partida G, Braber AD, Doan NT, Ehrlich S, Filippi I, Ge T, Giddaluru S, Goldman AL, Gottesman RF, Greven CU, Grimm O, Griswold ME, Guadalupe T, Hass J, Haukvik UK, Hilal S, Hofer E, Hoehn D, Holmes AJ, Hoogman M, Janowitz D, Jia T, Kasperaviciute D, Kim S, Klein M, Kraemer B, Lee PH, Liao J, Liewald DC, Lopez LM, Luciano M, Macare C, Marquand A, Matarin M, Mather KA, Mattheisen M, Mazoyer B, McKay DR, McWhirter R, Milaneschi Y, Mirza-Schreiber N, Muetzel RL, Maniega SM, Nho K, Nugent AC, Loohuis LM, Oosterlaan J, Papmeyer M, Pappa I, Pirpamer L, Pudas S, Pütz B, Rajan KB, Ramasamy A, Richards JS, Risacher SL, Roiz-Santiañez R, Rommelse N, Rose EJ, Royle NA, Rundek T, Sämann PG, Satizabal CL, Schmaal L, Schork AJ, Shen L, Shin J, Shumskaya E, Smith AV, Sprooten E, Strike LT, Teumer A, Thomson R, Tordesillas-Gutierrez D, Toro R, Trabzuni D, Vaidya D, Van der Grond J, Van der Meer D, Van Donkelaar MM, Van Eijk KR, Van Erp TG, Van Rooij D, Walton E, Westlye LT, Whelan CD, Windham BG, Winkler AM, Woldehawariat G, Wolf C, Wolfers T, Xu B, Yanek LR, Yang J, Zijdenbos A, Zwiers MP, Agartz I, Aggarwal NT, Almasy L, Ames D, Amouyel P, Andreassen OA, Arepalli S, Assareh AA, Barral S, Bastin ME, Becker DM, Becker JT, Bennett DA, Blangero J, van Bokhoven H, Boomsma DI, Brodaty H, Brouwer RM, Brunner HG, Buckner RL, Buitelaar JK, Bulayeva KB, Cahn W, Calhoun VD, Cannon DM, Cavalleri GL, Chen C, Cheng CY, Cichon S, Cookson MR, Corvin A, Crespo-Facorro B, Curran JE, Czisch M, Dale AM, Davies GE, De Geus EJ, De Jager PL, de Zubicaray GI, Delanty N, Depondt C, DeStefano AL, Dillman A, Djurovic S, Donohoe G, Drevets WC, Duggirala R, Dyer TD, Erk S, Espeseth T, Evans DA, Fedko IO, Fernández G, Ferrucci L, Fisher SE, Fleischman DA, Ford I, Foroud TM, Fox PT, Francks C, Fukunaga M, Gibbs JR, Glahn DC, Gollub RL, Göring HH, Grabe HJ, Green RC, Gruber O, Gudnason V, Guelfi S, Hansell NK, Hardy J, Hartman CA, Hashimoto R, Hegenscheid K, Heinz A, Le Hellard S, Hernandez DG, Heslenfeld DJ, Ho BC, Hoekstra PJ, Hoffmann W, Hofman A, Holsboer F, Homuth G, Hosten N, Hottenga JJ, Hulshoff Pol HE, Ikeda M, Ikram MK, Jack CR Jr, Jenkinson M, Johnson R, Jönsson EG, Jukema JW, Kahn RS, Kanai R, Kloszewska I, Knopman DS, Kochunov P, Kwok JB, Lawrie SM, Lemaître H, Liu X, Longo DL, Longstreth WT Jr, Lopez OL, Lovestone S, Martinez O, Martinot JL, Mattay VS, McDonald C, McIntosh AM, McMahon KL, McMahon FJ, Mecocci P, Melle I, Meyer-Lindenberg A, Mohnke S, Montgomery GW, Morris DW, Mosley TH, Mühleisen TW, Müller-Myhsok B, Nalls MA, Nauck M, Nichols TE, Niessen WJ, Nöthen MM, Nyberg L, Ohi K, Olvera RL, Ophoff RA, Pandolfo M, Paus T, Pausova Z, Penninx BW, Pike GB, Potkin SG, Psaty BM, Reppermund S, Rietschel M, Roffman JL, Romanczuk-Seiferth N, Rotter JI, Ryten M, Sacco RL, Sachdev PS, Saykin AJ, Schmidt R, Schofield PR, Sigurdsson S, Simmons A, Singleton A, Sisodiya SM, Smith C, Smoller JW, Soininen H, Srikanth V, Steen VM, Stott DJ, Sussmann JE, Thalamuthu A, Tiemeier H, Toga AW, Traynor BJ, Troncoso J, Turner JA, Tzourio C, Uitterlinden AG, Hernández MC, Van der Brug M, Van der Lugt A, Van der Wee NJ, Van Duijn CM, Van Haren NE, Van T Ent D, Van Tol MJ, Vardarajan BN, Veltman DJ, Vernooij MW, Völzke H, Walter H, Wardlaw JM, Wassink TH, Weale ME, Weinberger DR, Weiner MW, Wen W, Westman E, White T, Wong TY, Wright CB, Zielke HR, Zonderman AB, Deary IJ, DeCarli C, Schmidt H, Martin NG, De Craen AJ, Wright MJ, Launer LJ, Schumann G, Fornage M, Franke B, Debette S, Medland SE, Ikram MA, and Thompson PM
Subjects: Brain growth & development, Brain pathology, Genetic Loci genetics, Humans, Oncogene Protein v-akt genetics, Parkinson Disease genetics, Phenotype, Phosphatidylinositol 3-Kinases genetics, White People, Cognition physiology, Genetic Predisposition to Disease, Genome-Wide Association Study methods, Polymorphism, Single Nucleotide genetics
Abstract: 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 (ρ genetic = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (N combined = 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.
Published: 2016
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44. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

Author: Lelieveld SH, Reijnders MR, Pfundt R, Yntema HG, Kamsteeg EJ, de Vries P, de Vries BB, Willemsen MH, Kleefstra T, Löhner K, Vreeburg M, Stevens SJ, van der Burgt I, Bongers EM, Stegmann AP, Rump P, Rinne T, Nelen MR, Veltman JA, Vissers LE, Brunner HG, and Gilissen C
Subjects: Carrier Proteins genetics, DNA-Binding Proteins genetics, Disks Large Homolog 4 Protein, Exome genetics, Heterogeneous-Nuclear Ribonucleoproteins genetics, Humans, Intracellular Signaling Peptides and Proteins genetics, Membrane Proteins genetics, Minor Histocompatibility Antigens genetics, Phenotype, Protein Kinases genetics, Protein Phosphatase 2C genetics, SOXD Transcription Factors genetics, Smad6 Protein genetics, Transcription Factors genetics, Ubiquitin-Protein Ligases genetics, rac1 GTP-Binding Protein genetics, Intellectual Disability genetics, Mutation genetics
Abstract: To identify candidate genes for intellectual disability, we performed a meta-analysis on 2,637 de novo mutations, identified from the exomes of 2,104 patient-parent trios. Statistical analyses identified 10 new candidate ID genes: DLG4, PPM1D, RAC1, SMAD6, SON, SOX5, SYNCRIP, TCF20, TLK2 and TRIP12. In addition, we show that these genes are intolerant to nonsynonymous variation and that mutations in these genes are associated with specific clinical ID phenotypes.
Published: 2016
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45. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

Author: Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M, Kukolich MK, McGaughran J, Coe BP, Flórez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, and de Vries BB
Subjects: Abnormalities, Multiple genetics, Adolescent, Adult, Child, Chromosome Deletion, Chromosomes, Human, Pair 17 genetics, Female, Humans, Intellectual Disability genetics, Male, Middle Aged, Abnormalities, Multiple diagnosis, Intellectual Disability diagnosis, Nuclear Proteins genetics, Phenotype, Polymorphism, Single Nucleotide
Abstract: The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Expressive language development is particularly impaired compared with receptive language or motor skills. Other frequently reported features include social and friendly behaviour, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies. The syndrome is caused by a truncating variant in the KAT8 regulatory NSL complex unit 1 (KANSL1) gene or by a 17q21.31 microdeletion encompassing KANSL1. Herein we describe a novel cohort of 45 individuals with KdVS of whom 33 have a 17q21.31 microdeletion and 12 a single-nucleotide variant (SNV) in KANSL1 (19 males, 26 females; age range 7 months to 50 years). We provide guidance about the potential pitfalls in the laboratory testing and emphasise the challenges of KANSL1 variant calling and DNA copy number analysis in the complex 17q21.31 region. Moreover, we present detailed phenotypic information, including neuropsychological features, that contribute to the broad phenotypic spectrum of the syndrome. Comparison of the phenotype of both the microdeletion and SNV patients does not show differences of clinical importance, stressing that haploinsufficiency of KANSL1 is sufficient to cause the full KdVS phenotype.
Published: 2016
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46. Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.

Author: Tønne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, and Fiskerstrand T
Subjects: Adult, Aged, Amino Acid Sequence, Base Sequence, Child, Child, Preschool, Female, Humans, Infant, Male, Mental Retardation, X-Linked diagnosis, Middle Aged, Molecular Sequence Data, Mental Retardation, X-Linked genetics, Mutation, Missense, Ubiquitin-Protein Ligases genetics
Abstract: We describe a three-generation Norwegian family with a novel X-linked intellectual disability (XLID) syndrome characterized by subtle facial dysmorphism, autism and severe feeding problems. By exome sequencing we detected a rare missense variant (c.1067A>G, p.(Tyr356Cys)) in the RLIM gene, in two affected male second cousins. Sanger sequencing confirmed the presence of the variant in the four affected males (none of whom were siblings) and in three mothers available for testing. The variant was not present in 100 normal Norwegian controls, has not been reported in variant databases and is deleterious according to in silico prediction tools. The clinical phenotype and the variant co-segregate, yielding a LOD score of 3.0 for linkage to the shared region (36.09 Mb), which contains 242 genes. No other shared rare variants on the X chromosome were detected in the two affected exome-sequenced individuals, and all female carriers had an extremely skewed X-chromosome inactivation pattern. RLIM encodes RING zinc finger protein 12 (RNF12), an ubiquitin ligase that is essential for X inactivation in mice and that acts as a co-regulator of a range of transcription factors, particularly those containing a LIM homeodomain. Tyrosine in position 356 in RNF12 is located within a highly conserved domain essential for binding such transcription factors. Expression of RNF12 is widespread during embryogenesis, and is particularly high in the outer layers of the cerebral cortex. Functional studies are needed to prove a definite causal relationship between the variant and the phenotype. Subsequent reports may confirm a role for RLIM variants in patients with XLID.
Published: 2015
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47. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

Author: Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, and Kleefstra T
Subjects: Abnormalities, Multiple diagnosis, Abnormalities, Multiple pathology, Adolescent, Adult, Autism Spectrum Disorder complications, Autism Spectrum Disorder diagnosis, Autism Spectrum Disorder pathology, Bone Diseases, Developmental complications, Bone Diseases, Developmental diagnosis, Bone Diseases, Developmental pathology, Child, Child, Preschool, DNA Mutational Analysis, Exome, Facies, Female, Gene Expression, Genotype, Humans, Intellectual Disability complications, Intellectual Disability diagnosis, Intellectual Disability pathology, Male, Middle Aged, Phenotype, Tooth Abnormalities complications, Tooth Abnormalities diagnosis, Tooth Abnormalities pathology, Abnormalities, Multiple genetics, Autism Spectrum Disorder genetics, Bone Diseases, Developmental genetics, Chromosomes, Human, Pair 16, Gene Deletion, Intellectual Disability genetics, Repressor Proteins genetics, Tooth Abnormalities genetics
Abstract: Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal anomalies. We present the largest cohort of KBG syndrome cases confirmed by ANKRD11 variants reported so far, consisting of 20 patients from 13 families. Sixteen patients were molecularly diagnosed by Sanger sequencing of ANKRD11, one familial case and three sporadic patients were diagnosed through whole-exome sequencing and one patient was identified through genomewide array analysis. All patients were evaluated by a clinical geneticist. Detailed orofacial phenotyping, including orthodontic evaluation, intra-oral photographs and orthopantomograms, was performed in 10 patients and revealed besides the hallmark feature of macrodontia of central upper incisors, several additional dental anomalies as oligodontia, talon cusps and macrodontia of other teeth. Three-dimensional (3D) stereophotogrammetry was performed in 14 patients and 3D analysis of patients compared with controls showed consistent facial dysmorphisms comprising a bulbous nasal tip, upturned nose with a broad base and a round or triangular face. Many patients exhibited neurobehavioural problems, such as autism spectrum disorder or hyperactivity. One-third of patients presented with (conductive) hearing loss. Congenital heart defects, velopharyngeal insufficiency and hip anomalies were less frequent. On the basis of our observations, we recommend cardiac assessment in children and regular hearing tests in all individuals with a molecular diagnosis of KBG syndrome. As ANKRD11 is a relatively common gene in which sequence variants have been identified in individuals with neurodevelopmental disorders, it seems an important contributor to the aetiology of both sporadic and familial cases.
Published: 2015
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48. Further delineation of the KBG syndrome caused by ANKRD11 aberrations.

Author: Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, and Kleefstra T
Published: 2015
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49. Common genetic variants influence human subcortical brain structures.

Author: Hibar DP, Stein JL, Renteria ME, Arias-Vasquez A, Desrivières S, Jahanshad N, Toro R, Wittfeld K, Abramovic L, Andersson M, Aribisala BS, Armstrong NJ, Bernard M, Bohlken MM, Boks MP, Bralten J, Brown AA, Chakravarty MM, Chen Q, Ching CR, Cuellar-Partida G, den Braber A, Giddaluru S, Goldman AL, Grimm O, Guadalupe T, Hass J, Woldehawariat G, Holmes AJ, Hoogman M, Janowitz D, Jia T, Kim S, Klein M, Kraemer B, Lee PH, Olde Loohuis LM, Luciano M, Macare C, Mather KA, Mattheisen M, Milaneschi Y, Nho K, Papmeyer M, Ramasamy A, Risacher SL, Roiz-Santiañez R, Rose EJ, Salami A, Sämann PG, Schmaal L, Schork AJ, Shin J, Strike LT, Teumer A, van Donkelaar MM, van Eijk KR, Walters RK, Westlye LT, Whelan CD, Winkler AM, Zwiers MP, Alhusaini S, Athanasiu L, Ehrlich S, Hakobjan MM, Hartberg CB, Haukvik UK, Heister AJ, Hoehn D, Kasperaviciute D, Liewald DC, Lopez LM, Makkinje RR, Matarin M, Naber MA, McKay DR, Needham M, Nugent AC, Pütz B, Royle NA, Shen L, Sprooten E, Trabzuni D, van der Marel SS, van Hulzen KJ, Walton E, Wolf C, Almasy L, Ames D, Arepalli S, Assareh AA, Bastin ME, Brodaty H, Bulayeva KB, Carless MA, Cichon S, Corvin A, Curran JE, Czisch M, de Zubicaray GI, Dillman A, Duggirala R, Dyer TD, Erk S, Fedko IO, Ferrucci L, Foroud TM, Fox PT, Fukunaga M, Gibbs JR, Göring HH, Green RC, Guelfi S, Hansell NK, Hartman CA, Hegenscheid K, Heinz A, Hernandez DG, Heslenfeld DJ, Hoekstra PJ, Holsboer F, Homuth G, Hottenga JJ, Ikeda M, Jack CR Jr, Jenkinson M, Johnson R, Kanai R, Keil M, Kent JW Jr, Kochunov P, Kwok JB, Lawrie SM, Liu X, Longo DL, McMahon KL, Meisenzahl E, Melle I, Mohnke S, Montgomery GW, Mostert JC, Mühleisen TW, Nalls MA, Nichols TE, Nilsson LG, Nöthen MM, Ohi K, Olvera RL, Perez-Iglesias R, Pike GB, Potkin SG, Reinvang I, Reppermund S, Rietschel M, Romanczuk-Seiferth N, Rosen GD, Rujescu D, Schnell K, Schofield PR, Smith C, Steen VM, Sussmann JE, Thalamuthu A, Toga AW, Traynor BJ, Troncoso J, Turner JA, Valdés Hernández MC, van 't Ent D, van der Brug M, van der Wee NJ, van Tol MJ, Veltman DJ, Wassink TH, Westman E, Zielke RH, Zonderman AB, Ashbrook DG, Hager R, Lu L, McMahon FJ, Morris DW, Williams RW, Brunner HG, Buckner RL, Buitelaar JK, Cahn W, Calhoun VD, Cavalleri GL, Crespo-Facorro B, Dale AM, Davies GE, Delanty N, Depondt C, Djurovic S, Drevets WC, Espeseth T, Gollub RL, Ho BC, Hoffmann W, Hosten N, Kahn RS, Le Hellard S, Meyer-Lindenberg A, Müller-Myhsok B, Nauck M, Nyberg L, Pandolfo M, Penninx BW, Roffman JL, Sisodiya SM, Smoller JW, van Bokhoven H, van Haren NE, Völzke H, Walter H, Weiner MW, Wen W, White T, Agartz I, Andreassen OA, Blangero J, Boomsma DI, Brouwer RM, Cannon DM, Cookson MR, de Geus EJ, Deary IJ, Donohoe G, Fernández G, Fisher SE, Francks C, Glahn DC, Grabe HJ, Gruber O, Hardy J, Hashimoto R, Hulshoff Pol HE, Jönsson EG, Kloszewska I, Lovestone S, Mattay VS, Mecocci P, McDonald C, McIntosh AM, Ophoff RA, Paus T, Pausova Z, Ryten M, Sachdev PS, Saykin AJ, Simmons A, Singleton A, Soininen H, Wardlaw JM, Weale ME, Weinberger DR, Adams HH, Launer LJ, Seiler S, Schmidt R, Chauhan G, Satizabal CL, Becker JT, Yanek L, van der Lee SJ, Ebling M, Fischl B, Longstreth WT Jr, Greve D, Schmidt H, Nyquist P, Vinke LN, van Duijn CM, Xue L, Mazoyer B, Bis JC, Gudnason V, Seshadri S, Ikram MA, Martin NG, Wright MJ, Schumann G, Franke B, Thompson PM, and Medland SE
Subjects: Adolescent, Adult, Aged, Aged, 80 and over, Aging genetics, Apoptosis genetics, Caudate Nucleus anatomy & histology, Child, Female, Gene Expression Regulation, Developmental genetics, Genetic Loci genetics, Hippocampus anatomy & histology, Humans, Magnetic Resonance Imaging, Male, Membrane Proteins genetics, Middle Aged, Organ Size genetics, Putamen anatomy & histology, Sex Characteristics, Skull anatomy & histology, Young Adult, Brain anatomy & histology, Genetic Variation genetics, Genome-Wide Association Study
Abstract: 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 × 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.
Published: 2015
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50. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

Author: Vissers LE, Bonetti M, Paardekooper Overman J, Nillesen WM, Frints SG, de Ligt J, Zampino G, Justino A, Machado JC, Schepens M, Brunner HG, Veltman JA, Scheffer H, Gros P, Costa JL, Tartaglia M, van der Burgt I, Yntema HG, and den Hertog J
Subjects: Amino Acid Substitution, Animals, DNA Mutational Analysis, Exome, Facies, Female, Gene Expression, High-Throughput Nucleotide Sequencing, Humans, Male, Models, Molecular, Mutation, Pedigree, Phenotype, Protein Conformation, Zebrafish, alpha-Macroglobulins chemistry, Germ-Line Mutation, Heterozygote, Noonan Syndrome genetics, alpha-Macroglobulins genetics
Abstract: Noonan syndrome (NS) is a developmental disorder characterized by short stature, facial dysmorphisms and congenital heart defects. To date, all mutations known to cause NS are dominant, activating mutations in signal transducers of the RAS/mitogen-activated protein kinase (MAPK) pathway. In 25% of cases, however, the genetic cause of NS remains elusive, suggesting that factors other than those involved in the canonical RAS/MAPK pathway may also have a role. Here, we used family-based whole exome sequencing of a case-parent trio and identified a de novo mutation, p.(Arg802His), in A2ML1, which encodes the secreted protease inhibitor α-2-macroglobulin (A2M)-like-1. Subsequent resequencing of A2ML1 in 155 cases with a clinical diagnosis of NS led to the identification of additional mutations in two families, p.(Arg802Leu) and p.(Arg592Leu). Functional characterization of these human A2ML1 mutations in zebrafish showed NS-like developmental defects, including a broad head, blunted face and cardiac malformations. Using the crystal structure of A2M, which is highly homologous to A2ML1, we identified the intramolecular interaction partner of p.Arg802. Mutation of this residue, p.Glu906, induced similar developmental defects in zebrafish, strengthening our conclusion that mutations in A2ML1 cause a disorder clinically related to NS. This is the first report of the involvement of an extracellular factor in a disorder clinically related to RASopathies, providing potential new leads for better understanding of the molecular basis of this family of developmental diseases.
Published: 2015
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