Synaptic, transcriptional and chromatin genes disrupted in autism

Silvia De Rubeis, Xin He, Arthur P. Goldberg, Christopher S. Poultney, Kaitlin Samocha, A. Ercument Cicek, Yan Kou, Li Liu, Menachem Fromer, Susan Walker, Tarjinder Singh, Lambertus Klei, Jack Kosmicki, Shih-Chen Fu, Branko Aleksic, Monica Biscaldi, Patrick F. Bolton, Jessica M. Brownfeld, Jinlu Cai, Nicholas G. Campbell, Angel Carracedo, Maria H. Chahrour, Andreas G. Chiocchetti, Hilary Coon, Emily L. Crawford, Lucy Crooks, Sarah R. Curran, Geraldine Dawson, Eftichia Duketis, Bridget A. Fernandez, Louise Gallagher, Evan Geller, Stephen J. Guter, R. Sean Hill, Iuliana Ionita-Laza, Patricia Jimenez Gonzalez, Helena Kilpinen, Sabine M. Klauck, Alexander Kolevzon, Irene Lee, Jing Lei, Terho Lehtimäki, Chiao-Feng Lin, Avi Ma’ayan, Christian R. Marshall, Alison L. McInnes, Benjamin Neale, Michael J. Owen, Norio Ozaki, Mara Parellada, Jeremy R. Parr, Shaun Purcell, Kaija Puura, Deepthi Rajagopalan, Karola Rehnström, Abraham Reichenberg, Aniko Sabo, Michael Sachse, Stephan J. Sanders, Chad Schafer, Martin Schulte-Rüther, David Skuse, Christine Stevens, Peter Szatmari, Kristiina Tammimies, Otto Valladares, Annette Voran, Li-San Wang, Lauren A. Weiss, A. Jeremy Willsey, Timothy W. Yu, Ryan K. C. Yuen, Edwin H. Cook, Christine M. Freitag, Michael Gill, Christina M. Hultman, Thomas Lehner, Aarno Palotie, Gerard D. Schellenberg, Pamela Sklar, Matthew W. State, James S. Sutcliffe, Christopher A. Walsh, Stephen W. Scherer, Michael E. Zwick, Jeffrey C. Barrett, David J. Cutler, Kathryn Roeder, Bernie Devlin, Mark J. Daly () and Joseph D. Buxbaum ()
Additional contact information
Silvia De Rubeis: Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Xin He: Ray and Stephanie Lane Center for Computational Biology, Carnegie Mellon University
Arthur P. Goldberg: Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Christopher S. Poultney: Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Kaitlin Samocha: Analytic and Translational Genetics Unit, Massachusetts General Hospital
A. Ercument Cicek: Ray and Stephanie Lane Center for Computational Biology, Carnegie Mellon University
Yan Kou: Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Li Liu: Carnegie Mellon University
Menachem Fromer: Icahn School of Medicine at Mount Sinai
Susan Walker: Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.
Tarjinder Singh: The Wellcome Trust Sanger Institute, Cambridge, CB10 1SA, UK.
Lambertus Klei: University of Pittsburgh School of Medicine
Jack Kosmicki: Analytic and Translational Genetics Unit, Massachusetts General Hospital
Shih-Chen Fu: Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Branko Aleksic: Graduate School of Medicine, Nagoya University, Nagoya 466-8550, Japan.
Monica Biscaldi: Psychotherapy, and Psychosomatics, University Medical Center Freiburg; Center for Mental Disorders, 79106 Freiburg, Germany.
Patrick F. Bolton: King’s College London Institute of Psychiatry, Psychology & Neuroscience, London, SE5 8AF, UK.
Jessica M. Brownfeld: Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Jinlu Cai: Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Nicholas G. Campbell: Vanderbilt Brain Institute, Vanderbilt University School of Medicine
Angel Carracedo: Genomic Medicine Group, CIBERER, University of Santiago de Compostela and Galician Foundation of Genomic Medicine (SERGAS), 15706 Santiago de Compostela, Spain.
Maria H. Chahrour: Harvard Medical School
Andreas G. Chiocchetti: Psychosomatics and Psychotherapy, Goethe University Frankfurt, 60528 Frankfurt, Germany.
Hilary Coon: University of Utah
Emily L. Crawford: Vanderbilt Brain Institute, Vanderbilt University School of Medicine
Lucy Crooks: The Wellcome Trust Sanger Institute, Cambridge, CB10 1SA, UK.
Sarah R. Curran: King’s College London Institute of Psychiatry, Psychology & Neuroscience, London, SE5 8AF, UK.
Geraldine Dawson: Duke Institute for Brain Sciences, Duke University
Eftichia Duketis: Psychosomatics and Psychotherapy, Goethe University Frankfurt, 60528 Frankfurt, Germany.
Bridget A. Fernandez: Disciplines of Genetics and Medicine, Memorial University of Newfoundland, St John’s, Newfoundland A1B 3V6, Canada.
Louise Gallagher: School of Medicine, Trinity College Dublin, Dublin 8, Ireland.
Evan Geller: University of Pennsylvania Perelman School of Medicine
Stephen J. Guter: Institute for Juvenile Research, University of Illinois at Chicago
R. Sean Hill: Harvard Medical School
Patricia Jimenez Gonzalez: Hospital Nacional de Niños Dr Saenz Herrera, CCSS, Child Developmental and Behavioral Unit
Helena Kilpinen: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
Sabine M. Klauck: German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Alexander Kolevzon: Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Irene Lee: Institute of Child Health, University College London, London, WC1N 1EH, UK.
Jing Lei: Carnegie Mellon University
Terho Lehtimäki: Fimlab Laboratories, SF-33100 Tampere, Finland.
Chiao-Feng Lin: University of Pennsylvania Perelman School of Medicine
Avi Ma’ayan: Icahn School of Medicine at Mount Sinai
Christian R. Marshall: Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.
Alison L. McInnes: Department of Psychiatry Kaiser Permanente
Benjamin Neale: The Broad Institute of MIT and Harvard
Michael J. Owen: MRC Centre for Neuropsychiatric Genetics and Genomics, and the Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, CF24 4HQ, UK.
Norio Ozaki: Graduate School of Medicine, Nagoya University, Nagoya 466-8550, Japan.
Mara Parellada: Hospital General Universitario Gregorio Marañón, IiSGM, CIBERSAM, Universidad Complutense, 28040 Madrid, Spain.
Jeremy R. Parr: Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
Shaun Purcell: Icahn School of Medicine at Mount Sinai
Kaija Puura: University of Tampere and Tampere University Hospital, 33521 Tampere, Finland SF-33101.
Deepthi Rajagopalan: Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.
Karola Rehnström: The Wellcome Trust Sanger Institute, Cambridge, CB10 1SA, UK.
Abraham Reichenberg: Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Aniko Sabo: Baylor College of Medicine
Michael Sachse: Psychosomatics and Psychotherapy, Goethe University Frankfurt, 60528 Frankfurt, Germany.
Stephan J. Sanders: University of California at San Francisco
Chad Schafer: Carnegie Mellon University
Martin Schulte-Rüther: Psychosomatics, and Psychotherapy, Translational Brain Medicine in Psychiatry and Neurology, University Hospital RWTH Aachen / JARA Brain Translational Medicine, 52056 Aachen, Germany.
David Skuse: Institute of Child Health, University College London, London, WC1N 1EH, UK.
Christine Stevens: The Broad Institute of MIT and Harvard
Peter Szatmari: Offord Centre for Child Studies, McMaster University, Hamilton, Ontario L8S 4K1, Canada.
Kristiina Tammimies: Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.
Otto Valladares: University of Pennsylvania Perelman School of Medicine
Annette Voran: Saarland University Hospital, D-66424 Homburg, Germany.
Li-San Wang: University of Pennsylvania Perelman School of Medicine
Lauren A. Weiss: University of California at San Francisco
A. Jeremy Willsey: University of California at San Francisco
Timothy W. Yu: Harvard Medical School
Ryan K. C. Yuen: Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.
Edwin H. Cook: Institute for Juvenile Research, University of Illinois at Chicago
Christine M. Freitag: Psychosomatics and Psychotherapy, Goethe University Frankfurt, 60528 Frankfurt, Germany.
Michael Gill: School of Medicine, Trinity College Dublin, Dublin 8, Ireland.
Christina M. Hultman: Karolinska Institutet, SE-171 77 Stockholm, Sweden.
Thomas Lehner: National Institute of Mental Health, National Institutes of Health
Aarno Palotie: Analytic and Translational Genetics Unit, Massachusetts General Hospital
Gerard D. Schellenberg: University of Pennsylvania Perelman School of Medicine
Pamela Sklar: Icahn School of Medicine at Mount Sinai
Matthew W. State: University of California at San Francisco
James S. Sutcliffe: Vanderbilt Brain Institute, Vanderbilt University School of Medicine
Christopher A. Walsh: Harvard Medical School
Stephen W. Scherer: Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.
Michael E. Zwick: Emory University School of Medicine
Jeffrey C. Barrett: The Wellcome Trust Sanger Institute, Cambridge, CB10 1SA, UK.
David J. Cutler: Emory University School of Medicine
Kathryn Roeder: Ray and Stephanie Lane Center for Computational Biology, Carnegie Mellon University
Bernie Devlin: University of Pittsburgh School of Medicine
Mark J. Daly: Harvard Medical School
Joseph D. Buxbaum: Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai

Nature, 2014, vol. 515, issue 7526, 209-215

Abstract: Abstract The genetic architecture of autism spectrum disorder involves the interplay of common and rare variants and their impact on hundreds of genes. Using exome sequencing, here we show that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate (FDR)

Date: 2014
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DOI: 10.1038/nature13772

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