Functional impact of global rare copy number variation in autism spectrum disorders

Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan, Judith Conroy, Tiago R. Magalhaes, Catarina Correia, Brett S. Abrahams, Joana Almeida, Elena Bacchelli, Gary D. Bader, Anthony J. Bailey, Gillian Baird, Agatino Battaglia, Tom Berney, Nadia Bolshakova, Sven Bölte, Patrick F. Bolton, Thomas Bourgeron, Sean Brennan, Jessica Brian, Susan E. Bryson, Andrew R. Carson, Guillermo Casallo, Jillian Casey, Brian H.Y. Chung, Lynne Cochrane, Christina Corsello, Emily L. Crawford, Andrew Crossett, Cheryl Cytrynbaum, Geraldine Dawson, Maretha de Jonge, Richard Delorme, Irene Drmic, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Susan E. Folstein, Eric Fombonne, Christine M. Freitag, John Gilbert, Christopher Gillberg, Joseph T. Glessner, Jeremy Goldberg, Andrew Green, Jonathan Green, Stephen J. Guter, Hakon Hakonarson, Elizabeth A. Heron, Matthew Hill, Richard Holt, Jennifer L. Howe, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Cecilia Kim, Sabine M. Klauck, Alexander Kolevzon, Olena Korvatska, Vlad Kustanovich, Clara M. Lajonchere, Janine A. Lamb, Magdalena Laskawiec, Marion Leboyer, Ann Le Couteur, Bennett L. Leventhal, Anath C. Lionel, Xiao-Qing Liu, Catherine Lord, Linda Lotspeich, Sabata C. Lund, Elena Maestrini, William Mahoney, Carine Mantoulan, Christian R. Marshall, Helen McConachie, Christopher J. McDougle, Jane McGrath, William M. McMahon, Alison Merikangas, Ohsuke Migita, Nancy J. Minshew, Ghazala K. Mirza, Jeff Munson, Stanley F. Nelson, Carolyn Noakes, Abdul Noor, Gudrun Nygren, Guiomar Oliveira, Katerina Papanikolaou, Jeremy R. Parr, Barbara Parrini, Tara Paton, Andrew Pickles, Marion Pilorge, Joseph Piven, Chris P. Ponting, David J. Posey, Annemarie Poustka, Fritz Poustka, Aparna Prasad, Jiannis Ragoussis, Katy Renshaw, Jessica Rickaby, Wendy Roberts, Kathryn Roeder, Bernadette Roge, Michael L. Rutter, Laura J. Bierut, John P. Rice, Jeff Salt, Katherine Sansom, Daisuke Sato, Ricardo Segurado, Ana F. Sequeira, Lili Senman, Naisha Shah, Val C. Sheffield, Latha Soorya, Inês Sousa, Olaf Stein, Nuala Sykes, Vera Stoppioni, Christina Strawbridge, Raffaella Tancredi, Katherine Tansey, Bhooma Thiruvahindrapduram, Ann P. Thompson, Susanne Thomson, Ana Tryfon, John Tsiantis, Herman Van Engeland, John B. Vincent, Fred Volkmar, Simon Wallace, Kai Wang, Zhouzhi Wang, Thomas H. Wassink, Caleb Webber, Rosanna Weksberg, Kirsty Wing, Kerstin Wittemeyer, Shawn Wood, Jing Wu, Brian L. Yaspan, Danielle Zurawiecki, Lonnie Zwaigenbaum, Joseph D. Buxbaum, Rita M. Cantor, Edwin H. Cook, Hilary Coon, Michael L. Cuccaro, Bernie Devlin, Sean Ennis, Louise Gallagher, Daniel H. Geschwind, Michael Gill, Jonathan L. Haines, Joachim Hallmayer, Judith Miller, Anthony P. Monaco, John I. Nurnberger, Andrew D. Paterson, Margaret A. Pericak-Vance, Gerard D. Schellenberg, Peter Szatmari, Astrid M. Vicente, Veronica J. Vieland, Ellen M. Wijsman, Stephen W. Scherer (), James S. Sutcliffe and Catalina Betancur
Additional contact information
Dalila Pinto: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Alistair T. Pagnamenta: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Lambertus Klei: University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA.
Richard Anney: Autism Genetics Group, School of Medicine, Trinity College, Dublin 8, Ireland.
Daniele Merico: Terrence Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada.
Regina Regan: School of Medicine and Medical Science University College, Dublin 4, Ireland.
Judith Conroy: School of Medicine and Medical Science University College, Dublin 4, Ireland.
Tiago R. Magalhaes: Instituto Nacional de Saude Dr Ricardo Jorge 1649-016 Lisbon and Instituto Gulbenkian de Cîencia, 2780-156 Oeiras, Portugal.
Catarina Correia: Instituto Nacional de Saude Dr Ricardo Jorge 1649-016 Lisbon and Instituto Gulbenkian de Cîencia, 2780-156 Oeiras, Portugal.
Brett S. Abrahams: Program in Neurogenetics, Semel Institute, David Geffen School of Medicine at UCLA, Los Angeles, California 90095, USA.
Joana Almeida: Hospital Pediátrico de Coimbra, 3000 – 076 Coimbra, Portugal.
Elena Bacchelli: University of Bologna, 40126 Bologna, Italy.
Gary D. Bader: Terrence Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada.
Anthony J. Bailey: University of Oxford, Warneford Hospital, Headington, Oxford OX3 7JX, UK.
Gillian Baird: Newcomen Centre, Guy’s Hospital, London SE1 9RT, UK.
Agatino Battaglia: Stella Maris Institute for Child and Adolescent Neuropsychiatry, 56128 Calambrone (Pisa), Italy.
Tom Berney: Child and Adolescent Mental Health, University of Newcastle, Sir James Spence Institute, Newcastle upon Tyne NE1 4LP, UK.
Nadia Bolshakova: Autism Genetics Group, School of Medicine, Trinity College, Dublin 8, Ireland.
Sven Bölte: Psychosomatics and Psychotherapy, J.W. Goethe University Frankfurt, 60528 Frankfurt, Germany.
Patrick F. Bolton: Institute of Psychiatry, London SE5 8AF, UK.
Thomas Bourgeron: Human Genetics and Cognitive Functions, Institut Pasteur
Sean Brennan: Autism Genetics Group, School of Medicine, Trinity College, Dublin 8, Ireland.
Jessica Brian: Autism Research Unit, The Hospital for Sick Children and Bloorview Kids Rehab, University of Toronto, Toronto, Ontario M5G 1X8, Canada.
Susan E. Bryson: Dalhousie University, Halifax, Nova Scotia B3K 6R8, Canada.
Andrew R. Carson: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Guillermo Casallo: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Jillian Casey: School of Medicine and Medical Science University College, Dublin 4, Ireland.
Brian H.Y. Chung: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Lynne Cochrane: Autism Genetics Group, School of Medicine, Trinity College, Dublin 8, Ireland.
Christina Corsello: Autism and Communicative Disorders Centre, University of Michigan, Ann Arbor, Michigan 48109-2054, USA.
Emily L. Crawford: Vanderbilt Kennedy Center, and Centers for Human Genetics Research and Molecular Neuroscience, Vanderbilt University, Nashville, Tennessee 37232, USA.
Andrew Crossett: Carnegie Mellon University, Pittsburgh, Pennsylvania 15213, USA.
Cheryl Cytrynbaum: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Geraldine Dawson: Autism Speaks, New York 10016, USA.
Maretha de Jonge: University Medical Center, Utrecht 3508 GA, The Netherlands.
Richard Delorme: INSERM U 955, Fondation FondaMental, APHP, Hôpital Robert Debré, Child and Adolescent Psychiatry, 75019 Paris, France.
Irene Drmic: Autism Research Unit, The Hospital for Sick Children and Bloorview Kids Rehab, University of Toronto, Toronto, Ontario M5G 1X8, Canada.
Eftichia Duketis: Psychosomatics and Psychotherapy, J.W. Goethe University Frankfurt, 60528 Frankfurt, Germany.
Frederico Duque: Hospital Pediátrico de Coimbra, 3000 – 076 Coimbra, Portugal.
Annette Estes: University of Washington, Seattle, Washington 98195, USA.
Penny Farrar: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Bridget A. Fernandez: Disciplines of Genetics and Medicine, Memorial University of Newfoundland, St John’s Newfoundland A1B 3V6, Canada.
Susan E. Folstein: The John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida 33101, USA.
Eric Fombonne: McGill University, Montreal, Quebec H3A 1A1, Canada.
Christine M. Freitag: Psychosomatics and Psychotherapy, J.W. Goethe University Frankfurt, 60528 Frankfurt, Germany.
John Gilbert: The John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida 33101, USA.
Christopher Gillberg: Göteborg University, Göteborg S41345, Sweden.
Joseph T. Glessner: The Center for Applied Genomics, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Jeremy Goldberg: McMaster University, Hamilton, Ontario L8N 3Z5, Canada.
Andrew Green: School of Medicine and Medical Science University College, Dublin 4, Ireland.
Jonathan Green: Booth Hall of Children’s Hospital, Blackley, Manchester M9 7AA, UK.
Stephen J. Guter: Institute for Juvenile Research, University of Illinois at Chicago, Chicago, Illinois 60612, USA.
Hakon Hakonarson: The Center for Applied Genomics, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Elizabeth A. Heron: Autism Genetics Group, School of Medicine, Trinity College, Dublin 8, Ireland.
Matthew Hill: Autism Genetics Group, School of Medicine, Trinity College, Dublin 8, Ireland.
Richard Holt: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Jennifer L. Howe: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Gillian Hughes: Autism Genetics Group, School of Medicine, Trinity College, Dublin 8, Ireland.
Vanessa Hus: Autism and Communicative Disorders Centre, University of Michigan, Ann Arbor, Michigan 48109-2054, USA.
Roberta Igliozzi: Stella Maris Institute for Child and Adolescent Neuropsychiatry, 56128 Calambrone (Pisa), Italy.
Cecilia Kim: The Center for Applied Genomics, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Sabine M. Klauck: German Cancer Research Center (DKFZ), Heidelberg 69120, Germany.
Alexander Kolevzon: The Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York 10029, USA.
Olena Korvatska: University of Washington, Seattle, Washington 98195, USA.
Vlad Kustanovich: Autism Genetic Resource Exchange, Autism Speaks, Los Angeles, California 90036-4234, USA.
Clara M. Lajonchere: Autism Genetic Resource Exchange, Autism Speaks, Los Angeles, California 90036-4234, USA.
Janine A. Lamb: Centre for Integrated Genomic Medical Research, University of Manchester, Manchester M13 9PT, UK.
Magdalena Laskawiec: University of Oxford, Warneford Hospital, Headington, Oxford OX3 7JX, UK.
Marion Leboyer: INSERM U995, Groupe Hospitalier Henri Mondor-Albert Chenevier, AP-HP
Ann Le Couteur: Child and Adolescent Mental Health, University of Newcastle, Sir James Spence Institute, Newcastle upon Tyne NE1 4LP, UK.
Bennett L. Leventhal: Nathan Kline Institute for Psychiatric Research (NKI), 140 Old Orangeburg Road, Orangeburg, New York 10962, USA.
Anath C. Lionel: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Xiao-Qing Liu: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Catherine Lord: Autism and Communicative Disorders Centre, University of Michigan, Ann Arbor, Michigan 48109-2054, USA.
Linda Lotspeich: Stanford University School of Medicine, Stanford, California 94304, USA.
Sabata C. Lund: Vanderbilt Kennedy Center, and Centers for Human Genetics Research and Molecular Neuroscience, Vanderbilt University, Nashville, Tennessee 37232, USA.
Elena Maestrini: University of Bologna, 40126 Bologna, Italy.
William Mahoney: McMaster University, Hamilton, Ontario L8N 3Z5, Canada.
Carine Mantoulan: Centre d’Eudes et de Recherches en Psychopathologie, University de Toulouse Le Mirail, Toulouse 31200, France.
Christian R. Marshall: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Helen McConachie: Child and Adolescent Mental Health, University of Newcastle, Sir James Spence Institute, Newcastle upon Tyne NE1 4LP, UK.
Christopher J. McDougle: Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
Jane McGrath: Autism Genetics Group, School of Medicine, Trinity College, Dublin 8, Ireland.
William M. McMahon: University of Utah Medical School, Salt Lake City, Utah 84108, USA.
Alison Merikangas: Autism Genetics Group, School of Medicine, Trinity College, Dublin 8, Ireland.
Ohsuke Migita: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Nancy J. Minshew: University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA.
Ghazala K. Mirza: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Jeff Munson: University of Washington, Seattle, Washington 98195, USA.
Stanley F. Nelson: University of California—Los Angeles School of Medicine, Los Angeles, California 90095, USA.
Carolyn Noakes: Autism Research Unit, The Hospital for Sick Children and Bloorview Kids Rehab, University of Toronto, Toronto, Ontario M5G 1X8, Canada.
Abdul Noor: Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario M5G 1X8, Canada.
Gudrun Nygren: Göteborg University, Göteborg S41345, Sweden.
Guiomar Oliveira: Hospital Pediátrico de Coimbra, 3000 – 076 Coimbra, Portugal.
Katerina Papanikolaou: Athens University, Medical School, Agia Sophia Children’s Hospital, 115 27 Athens, Greece.
Jeremy R. Parr: Insitutes of Neuroscience and Health and Society, Newcastle University, Newcastle Upon Tyne NE1 7RU, UK.
Barbara Parrini: Stella Maris Institute for Child and Adolescent Neuropsychiatry, 56128 Calambrone (Pisa), Italy.
Tara Paton: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Andrew Pickles: School of Epidemiology and Health Science, University of Manchester, Manchester M13 9PT, UK.
Marion Pilorge: INSERM U952 and CNRS UMR 7224 and UPMC Univ Paris 06, Paris 75005, France.
Joseph Piven: Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, North Carolina 27599-3366, USA.
Chris P. Ponting: MRC Functional Genomics Unit, Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, UK.
David J. Posey: Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
Annemarie Poustka: German Cancer Research Center (DKFZ), Heidelberg 69120, Germany.
Fritz Poustka: Psychosomatics and Psychotherapy, J.W. Goethe University Frankfurt, 60528 Frankfurt, Germany.
Aparna Prasad: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Jiannis Ragoussis: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Katy Renshaw: University of Oxford, Warneford Hospital, Headington, Oxford OX3 7JX, UK.
Jessica Rickaby: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Wendy Roberts: Autism Research Unit, The Hospital for Sick Children and Bloorview Kids Rehab, University of Toronto, Toronto, Ontario M5G 1X8, Canada.
Kathryn Roeder: Carnegie Mellon University, Pittsburgh, Pennsylvania 15213, USA.
Bernadette Roge: Centre d’Eudes et de Recherches en Psychopathologie, University de Toulouse Le Mirail, Toulouse 31200, France.
Michael L. Rutter: Social, Genetic and Developmental Psychiatry Centre, Institute Of Psychiatry, London SE5 8AF, UK.
Laura J. Bierut: Washington University in St Louis, School of Medicine, St Louis, Missouri 63130, USA.
John P. Rice: Washington University in St Louis, School of Medicine, St Louis, Missouri 63130, USA.
Jeff Salt: Institute for Juvenile Research, University of Illinois at Chicago, Chicago, Illinois 60612, USA.
Katherine Sansom: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Daisuke Sato: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Ricardo Segurado: Autism Genetics Group, School of Medicine, Trinity College, Dublin 8, Ireland.
Ana F. Sequeira: Instituto Nacional de Saude Dr Ricardo Jorge 1649-016 Lisbon and Instituto Gulbenkian de Cîencia, 2780-156 Oeiras, Portugal.
Lili Senman: Autism Research Unit, The Hospital for Sick Children and Bloorview Kids Rehab, University of Toronto, Toronto, Ontario M5G 1X8, Canada.
Naisha Shah: School of Medicine and Medical Science University College, Dublin 4, Ireland.
Val C. Sheffield: University of Iowa, Iowa City, Iowa 52242, USA.
Latha Soorya: The Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York 10029, USA.
Inês Sousa: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Olaf Stein: Battelle Center for Mathematical Medicine, The Research Institute at Nationwide Children’s Hospital and The Ohio State University, Columbus, Ohio 43205, USA.
Nuala Sykes: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Vera Stoppioni: Neuropsichiatria Infantile, Ospedale Santa Croce, 61032 Fano, Italy.
Christina Strawbridge: McMaster University, Hamilton, Ontario L8N 3Z5, Canada.
Raffaella Tancredi: Stella Maris Institute for Child and Adolescent Neuropsychiatry, 56128 Calambrone (Pisa), Italy.
Katherine Tansey: Autism Genetics Group, School of Medicine, Trinity College, Dublin 8, Ireland.
Bhooma Thiruvahindrapduram: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Ann P. Thompson: McMaster University, Hamilton, Ontario L8N 3Z5, Canada.
Susanne Thomson: Vanderbilt Kennedy Center, and Centers for Human Genetics Research and Molecular Neuroscience, Vanderbilt University, Nashville, Tennessee 37232, USA.
Ana Tryfon: The Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York 10029, USA.
John Tsiantis: Athens University, Medical School, Agia Sophia Children’s Hospital, 115 27 Athens, Greece.
Herman Van Engeland: University Medical Center, Utrecht 3508 GA, The Netherlands.
John B. Vincent: Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario M5G 1X8, Canada.
Fred Volkmar: Child Study Centre, Yale University, New Haven, Connecticut 06520, USA.
Simon Wallace: University of Oxford, Warneford Hospital, Headington, Oxford OX3 7JX, UK.
Kai Wang: The Center for Applied Genomics, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Zhouzhi Wang: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Thomas H. Wassink: Carver College of Medicine, Iowa City, Iowa 52242, USA.
Caleb Webber: MRC Functional Genomics Unit, Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, UK.
Rosanna Weksberg: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Kirsty Wing: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Kerstin Wittemeyer: Centre d’Eudes et de Recherches en Psychopathologie, University de Toulouse Le Mirail, Toulouse 31200, France.
Shawn Wood: University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA.
Jing Wu: Carnegie Mellon University, Pittsburgh, Pennsylvania 15213, USA.
Brian L. Yaspan: Vanderbilt Kennedy Center, and Centers for Human Genetics Research and Molecular Neuroscience, Vanderbilt University, Nashville, Tennessee 37232, USA.
Danielle Zurawiecki: The Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York 10029, USA.
Lonnie Zwaigenbaum: University of Alberta, Edmonton, Alberta T6G 2J3, Canada.
Joseph D. Buxbaum: The Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York 10029, USA.
Rita M. Cantor: University of California—Los Angeles School of Medicine, Los Angeles, California 90095, USA.
Edwin H. Cook: Institute for Juvenile Research, University of Illinois at Chicago, Chicago, Illinois 60612, USA.
Hilary Coon: University of Utah Medical School, Salt Lake City, Utah 84108, USA.
Michael L. Cuccaro: The John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida 33101, USA.
Bernie Devlin: University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA.
Sean Ennis: School of Medicine and Medical Science University College, Dublin 4, Ireland.
Louise Gallagher: Autism Genetics Group, School of Medicine, Trinity College, Dublin 8, Ireland.
Daniel H. Geschwind: Program in Neurogenetics, Semel Institute, David Geffen School of Medicine at UCLA, Los Angeles, California 90095, USA.
Michael Gill: Autism Genetics Group, School of Medicine, Trinity College, Dublin 8, Ireland.
Jonathan L. Haines: Center for Human Genetics Research, Vanderbilt University Medical Centre, Nashville, Tennessee 37232, USA.
Joachim Hallmayer: Stanford University School of Medicine, Stanford, California 94304, USA.
Judith Miller: University of Utah Medical School, Salt Lake City, Utah 84108, USA.
Anthony P. Monaco: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
John I. Nurnberger: Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
Andrew D. Paterson: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Margaret A. Pericak-Vance: The John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida 33101, USA.
Gerard D. Schellenberg: Pathology and Laboratory Medicine, University of Pennsylvania, Pennsylvania 19104, USA.
Peter Szatmari: McMaster University, Hamilton, Ontario L8N 3Z5, Canada.
Astrid M. Vicente: Instituto Nacional de Saude Dr Ricardo Jorge 1649-016 Lisbon and Instituto Gulbenkian de Cîencia, 2780-156 Oeiras, Portugal.
Veronica J. Vieland: Battelle Center for Mathematical Medicine, The Research Institute at Nationwide Children’s Hospital and The Ohio State University, Columbus, Ohio 43205, USA.
Ellen M. Wijsman: University of Washington, Seattle, Washington 98195, USA.
Stephen W. Scherer: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
James S. Sutcliffe: Vanderbilt Kennedy Center, and Centers for Human Genetics Research and Molecular Neuroscience, Vanderbilt University, Nashville, Tennessee 37232, USA.
Catalina Betancur: INSERM U952 and CNRS UMR 7224 and UPMC Univ Paris 06, Paris 75005, France.

Nature, 2010, vol. 466, issue 7304, 368-372

Abstract: The genetics of autism The autism spectrum disorders (ASDs) are a group of conditions typically characterized by repetitive behaviour, severely restricted interests and difficulties with social interactions and communication. ASDs are highly heritable, yet the underlying genetic determinants remain largely unknown. A genome-wide analysis reveals that people with ASDs carry a higher load of rare copy-number variants — segments of DNA for which the copy number differs between individual genomes — which are either inherited or arise de novo. The results implicate several novel genes as ASD candidates and point to the importance of cellular proliferation, projection and motility as well as specific signalling pathways in this disorder.

Date: 2010
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DOI: 10.1038/nature09146

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