Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
87 Pages Posted: 2 May 2019 Publication Status: Published
F. Kyle Satterstrom
Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research
Jack A. Kosmicki
Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research
Jiebiao Wang
Carnegie Mellon University - Department of Statistics
Michael S Breen
Icahn School of Medicine at Mount Sinai - Department of Psychiatry; Mount Sinai Health System - Seaver Autism Center for Research and Treatment; Icahn School of Medicine at Mount Sinai - Department of Genetics and Genomic Sciences
Silvia De Rubeis
Mount Sinai Health System - Department of Psychiatry
Joon-Yong An
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
Minshi Peng
Carnegie Mellon University - Department of Statistics
Ryan L. Collins
Harvard University - Center for Genomic Medicine
Jakob Grove
Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH)
Lambertus Klei
University of Pittsburgh - Department of Psychiatry
Christine Stevens
Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research
Jennifer Reichert
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
Maureen S. Mulhern
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
Mykyta Artomov
Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research
Sherif Gerges
Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research
Brooke Sheppard
University of California, San Francisco (UCSF) - Department of Psychiatry
Xinyi Xu
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
Aparna Bhaduri
University of California, San Francisco (UCSF) - Department of Neurology
Utku Norman
Bilkent University - Computer Engineering Department
Harrison Brand
Harvard University - Center for Genomic Medicine
Grace Schwartz
University of California, San Francisco (UCSF) - Department of Psychiatry
Rachel Nguyen
University of California, Irvine - Center for Autism Research and Translation
Elizabeth E. Guerrero
University of California, Davis - MIND (Medical Investigation of Neurodevelopmental Disorders) Institute
Caroline Dias
Harvard University - Division of Genetics
Branko Aleksic
Nagoya University - Department of Psychiatry
Mafalda Barbosa
Mount Sinai Health System - Mindich Child Health and Development Institute
Somer Bishop
University of California, San Francisco (UCSF) - Department of Psychiatry
Alfredo Brusco
University of Turin - Department of Medical Sciences
Jonas Bybjerg-Grauholm
Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH)
Angel Carracedo
Universidade de Santiago de Compostela - Group of Genomic Medicine-USC
Marcus C. Y. Chan
The University of Hong Kong - Department of Pediatrics & Adolescent Medicine
Andreas G. Chiocchetti
Goethe University Frankfurt - Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy
Brian H. Y. Chung
The University of Hong Kong - Department of Pediatrics & Adolescent Medicine
Hilary Coon
University of Utah - Department of Internal Medicine
Michael L. Cuccaro
University of Miami - John P Hussman Institute for Human Genomics
Aurora Currò
University of Siena - Medical Genetics
Bernardo Dalla Bernardina
University of Verona - Child Neuropsychiatry Department
Ryan Doan
Harvard University - Division of Genetics
Enrico Domenici
University of Trento - Centre for Integrative Biology (CIBIO)
Shan Dong
University of California, San Francisco (UCSF) - Department of Psychiatry
Chiara Fallerini
University of Siena - Medical Genetics
Montserrat Fernández-Prieto
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) - Grupo de Medicina Xenómica
Giovanni Battista Ferrero
University of Turin - Department of Public Health and Pediatric Sciences
Christine M. Freitag
Goethe University Frankfurt - Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy
Menachem Fromer
Massachusetts Institute of Technology and Harvard University - Program in Medical and Population Genetics
J. Jay Gargus
University of California, Irvine - Center for Autism Research and Translation
Elisa Giorgio
University of Turin - Department of Medical Sciences
Javier González-Peñas
Universidad Complutense de Madrid (UCM) - Department of Child and Adolescent Psychiatry
Stephen Guter
University of Illinois at Chicago - Institute for Juvenile Research
Danielle Halpern
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
Emily Hansen-Kiss
Nationwide Children's Hospital - The Research Institute
Xin He
University of Chicago - Department of Human Genetics
Gail E. Herman
Nationwide Children's Hospital - The Research Institute
Irva Hertz-Picciotto
University of California, Davis - MIND (Medical Investigation of Neurodevelopmental Disorders) Institute
David M. Hougaard
Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH)
Christina M. Hultman
Karolinska Institutet - Department of Medical Epidemiology and Biostatistics
Iuliana Ionita-Laza
Columbia University - Mailman School of Public Health
Suma Jacob
University of Illinois at Chicago - Institute for Juvenile Research
Jesslyn Jamison
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
Astanand Jugessur
Norwegian Institute of Public Health
Miia Kaartinen
Tampere University - Department of Child Psychiatry
Gun Peggy Knudsen
Norwegian Institute of Public Health
Alexander Kolevzon
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
Itaru Kushima
Nagoya University - Department of Psychiatry
So Lun Lee
The University of Hong Kong - Department of Pediatrics & Adolescent Medicine
Terho Lehtimäki
Tampere University - Department of Clinical Chemistry
Elaine T. Lim
Harvard University - Harvard Medical School
Carla Lintas
University Campus Biomedico
W. Ian Lipkin
Columbia University - Department of Biostatistics
Diego Lopergolo
University of Siena - Medical Genetics
Fátima Lopes
University of Minho - Life and Health Sciences Research Institute (ICVS)
Yunin Ludena
University of California, Davis - MIND (Medical Investigation of Neurodevelopmental Disorders) Institute
Patricia Maciel
University of Minho - Life and Health Sciences Research Institute (ICVS)
Per Magnus
Norwegian Institute of Public Health - Centre for Fertility and Health,
Behrang Mahjani
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
Nell Maltman
University of Illinois at Chicago - Institute for Juvenile Research
Dara S. Manoach
Harvard University - Department of Psychiatry
Gal Meiri
Harvard University - Department of Psychiatry
Idan Menashe
Ben-Gurion University of the Negev - Department of Public Health
Judith Miller
University of Utah - Department of Internal Medicine
Nancy Minshew
University of Pittsburgh - Department of Psychiatry
Eduarda Montenegro M. de Souza
University of São Paulo (USP) - Center for Research on the Human Genome and Stem Cells - Centro de Pesquisas sobre o Genoma Humano e Células Tronco
Danielle Moreira
University of São Paulo (USP) - Center for Research on the Human Genome and Stem Cells - Centro de Pesquisas sobre o Genoma Humano e Células Tronco
Eric M. Morrow
Brown University - Department of Psychiatry and Human Behavior
Ole Mors
Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH)
Preben Bo Mortensen
Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH)
Matthew Mosconi
University of Illinois at Chicago - Institute for Juvenile Research
Pierandrea Muglia
UCB - UCB Pharma, UK
Benjamin M. Neale
Harvard University - Center for Human Genetic Research
Merete Nordentoft
University of Copenhagen - Department of Clinical Medicine
Norio Ozaki
Nagoya University - Department of Psychiatry
Aarno Palotie
Harvard University - Analytic and Translational Genetics Unit
Mara Parellada
Universidad Complutense de Madrid (UCM) - Department of Child and Adolescent Psychiatry
Maria Rita Passos-Bueno
University of São Paulo (USP) - Center for Research on the Human Genome and Stem Cells - Centro de Pesquisas sobre o Genoma Humano e Células Tronco
Margaret Pericak-Vance
University of Miami - John P Hussman Institute for Human Genomics
Antonio Persico
University of Messina - Interdepartmental Program “Autism 0-90”
Isaac Pessah
University of California, Davis - MIND (Medical Investigation of Neurodevelopmental Disorders) Institute
Kaija Puura
Tampere University - Department of Child Psychiatry
Abraham Reichenberg
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
Alessandra Renieri
University of Siena - Medical Genetics
Evelise Riber
University of Turin - Department of Public Health and Pediatric Sciences
Elise B. Robinson
Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research
Kaitlin E. Samocha
Wellcome Genome Campus - Wellcome Trust Sanger Institute
Sven Sandin
Mount Sinai Health System - Department of Psychiatry
Susan L. Santangelo
MaineHealth - Maine Medical Center
Gerry Schellenberg
University of Pennsylvania - Department of Pathology and Lab Medicine
Stephen W. Scherer
University of Toronto - McLaughlin Centre
Sabine Schlitt
Goethe University Frankfurt - Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy
Rebecca Schmidt
University of California, Davis - MIND (Medical Investigation of Neurodevelopmental Disorders) Institute
Lauren Schmitt
University of Illinois at Chicago - Institute for Juvenile Research
Isabela Maya W. Silva
University of São Paulo (USP) - Center for Research on the Human Genome and Stem Cells - Centro de Pesquisas sobre o Genoma Humano e Células Tronco
Tarjinder Singh
Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research
Paige M. Siper
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
Moyra Smith
University of California, Irvine - Center for Autism Research and Translation
Gabriela Soares
National Health Institute Doutor Ricardo Jorge (INSA) - Center for Medical Genetics Dr. Jacinto Magalhães
Camilla Stoltenberg
Norwegian Institute of Public Health
Pål Suren
Norwegian Institute of Public Health
Ezra Susser
Columbia University
John Sweeney
University of Illinois at Chicago - Institute for Juvenile Research
Peter Szatmari
McMaster University - Department of Psychiatry and Behavioural Neurosciences
Flora Tassone
University of California, Davis - MIND (Medical Investigation of Neurodevelopmental Disorders) Institute
Karoline Teufel
Goethe University Frankfurt - Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy
Elisabetta Trabetti
University of Verona - Department of Neurosciences, Biomedicine and Movement Sciences
Maria del Pilar Trelles
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
Christopher Walsh
Harvard University - Division of Genetics
Lara Tang
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
Lauren A. Weiss
University of California, San Francisco (UCSF) - Department of Psychiatry
Thomas Werge
Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH)
Donna Werling
University of California, San Francisco (UCSF) - Department of Psychiatry
Emilie M. Wigdor
Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research
Emma Wilkinson
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
A. Jeremy Willsey
University of California, San Francisco (UCSF) - Department of Psychiatry
Tim Yu
Harvard University - Division of Genetics
Mullin H.C. Yu
The University of Hong Kong - Department of Pediatrics & Adolescent Medicine
Ryan Yuen
University of Toronto - Program in Genetics and Genome Biology
Elaine Zachi
University of São Paulo (USP) - Center for Research on the Human Genome and Stem Cells - Centro de Pesquisas sobre o Genoma Humano e Células Tronco
iPSYCH Consortium Group
Independent
Catalina Betancur
Sorbonne University - Institut de Biologie Paris Seine
Edwin H. Cook
University of Illinois at Chicago - Institute for Juvenile Research
Louise Gallagher
Trinity College (Dublin) - Department of Psychiatry
Michael Gill
Trinity College (Dublin) - Department of Psychiatry
James S. Sutcliffe
Vanderbilt University - Vanderbilt Genetics Institute
Audrey Thurm
Government of the United States of America - National Institute of Mental Health
Michael E. Zwick
Emory University - Department of Human Genetics
Anders D. Børglum
Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH)
Matthew W. State
University of California, San Francisco (UCSF) - Department of Psychiatry
A. Ercument Cicek
Carnegie Mellon University - Department of Statistics
Michael E. Talkowski
Harvard University - Center for Genomic Medicine
David J. Cutler
Emory University - Department of Human Genetics
Bernie Devlin
University of Pittsburgh - Department of Psychiatry
Stephan J. Sanders
University of California, San Francisco (UCSF) - Department of Psychiatry
Kathryn Roeder
Carnegie Mellon University - Department of Statistics
Mark J. Daly
Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research
Joseph Buxbaum
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
Abstract
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n=35,584 total samples, 11,986 with ASD). Using an enhanced Bayesian framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate ≤ 0.1. Of these genes, 49 show higher frequencies of disruptive de novo variants in individuals ascertained for severe neurodevelopmental delay, while 53 show higher frequencies in individuals ascertained for ASD; comparing ASD cases with mutations in these groups reveals phenotypic differences. Expressed early in brain development, most of the risk genes have roles in regulation of gene expression or neuronal communication (i.e., mutations effect neurodevelopmental and neurophysiological changes), and 13 fall within loci recurrently hit by copy number variants. In human cortex single-cell gene expression data, expression of risk genes is enriched in both excitatory and inhibitory neuronal lineages, consistent with multiple paths to an excitatory/inhibitory imbalance underlying ASD.
Suggested Citation: Suggested Citation
F. Kyle Satterstrom
Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research
Cambridge, MA
United States
Jack A. Kosmicki
Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research
Cambridge, MA
United States
Jiebiao Wang
Carnegie Mellon University - Department of Statistics
Baker Hall 132
Pittsburgh, PA 15213
United States
Michael S Breen
Icahn School of Medicine at Mount Sinai - Department of Psychiatry
New York, NY 10025
United States
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
New York City, NY
United States
Icahn School of Medicine at Mount Sinai - Department of Genetics and Genomic Sciences
1425 Madison Avenue
New York, NY 10029
United States
Silvia De Rubeis
Mount Sinai Health System - Department of Psychiatry
New York, NY 10025
United States
Joon-Yong An
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
New York City, NY
United States
Minshi Peng
Carnegie Mellon University - Department of Statistics
Baker Hall 132
Pittsburgh, PA 15213
United States
Ryan L. Collins
Harvard University - Center for Genomic Medicine
185 Cambridge Street
Boston, MA 02114
United States
Jakob Grove
Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH)
Aarhus
Denmark
Lambertus Klei
University of Pittsburgh - Department of Psychiatry
Pittsburgh, PA 15219
United States
Christine Stevens
Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research
Cambridge, MA
United States
Jennifer Reichert
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
New York City, NY
United States
Maureen S. Mulhern
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
New York City, NY
United States
Mykyta Artomov
Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research
Cambridge, MA
United States
Sherif Gerges
Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research
Cambridge, MA
United States
Brooke Sheppard
University of California, San Francisco (UCSF) - Department of Psychiatry
505 Parnassus Ave
San Francisco, CA 94143
United States
Xinyi Xu
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
New York City, NY
United States
Aparna Bhaduri
University of California, San Francisco (UCSF) - Department of Neurology
San Francisco, CA 94143
United States
Utku Norman
Bilkent University - Computer Engineering Department
Üniversiteler Mh.
Ankara
Turkey
Harrison Brand
Harvard University - Center for Genomic Medicine
185 Cambridge Street
Boston, MA 02114
United States
Grace Schwartz
University of California, San Francisco (UCSF) - Department of Psychiatry
505 Parnassus Ave
San Francisco, CA 94143
United States
Rachel Nguyen
University of California, Irvine - Center for Autism Research and Translation
Irvine, CA
United States
Elizabeth E. Guerrero
University of California, Davis - MIND (Medical Investigation of Neurodevelopmental Disorders) Institute
Davis, CA
United States
Caroline Dias
Harvard University - Division of Genetics
Boston, MA
United States
Branko Aleksic
Nagoya University - Department of Psychiatry
Nagoya
Japan
Mafalda Barbosa
Mount Sinai Health System - Mindich Child Health and Development Institute
New York, NY
United States
Somer Bishop
University of California, San Francisco (UCSF) - Department of Psychiatry ( email )
982 Mission St
San Francisco, CA 94103
United States
Alfredo Brusco
University of Turin - Department of Medical Sciences
Corso Dogliotti, 14
Torino, 10126
Italy
Jonas Bybjerg-Grauholm
Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH)
Aarhus
Denmark
Angel Carracedo
Universidade de Santiago de Compostela - Group of Genomic Medicine-USC
Travesía da Choupana
15706 Santiago de Compostela
Spain
Marcus C. Y. Chan
The University of Hong Kong - Department of Pediatrics & Adolescent Medicine
Hong Kong
China
Andreas G. Chiocchetti
Goethe University Frankfurt - Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy
Frankfurt
Germany
Brian H. Y. Chung
The University of Hong Kong - Department of Pediatrics & Adolescent Medicine
Hong Kong
China
Hilary Coon
University of Utah - Department of Internal Medicine
Salt Lake City, UT
United States
Michael L. Cuccaro
University of Miami - John P Hussman Institute for Human Genomics
1501 NW 10th Ave.
Miami, FL 33136
United States
Aurora Currò
University of Siena - Medical Genetics
Siena
Italy
Bernardo Dalla Bernardina
University of Verona - Child Neuropsychiatry Department
Verona
Italy
Ryan Doan
Harvard University - Division of Genetics
Boston, MA
United States
Enrico Domenici
University of Trento - Centre for Integrative Biology (CIBIO)
via Sommarive n. 9, Povo (TN)
Povo, Trentino 38123
Italy
Shan Dong
University of California, San Francisco (UCSF) - Department of Psychiatry
505 Parnassus Ave
San Francisco, CA 94143
United States
Chiara Fallerini
University of Siena - Medical Genetics
Siena
Italy
Montserrat Fernández-Prieto
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) - Grupo de Medicina Xenómica
Santiago de Compostela
Spain
Giovanni Battista Ferrero
University of Turin - Department of Public Health and Pediatric Sciences
Turin
Italy
Christine M. Freitag
Goethe University Frankfurt - Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy
Frankfurt
Germany
Menachem Fromer
Massachusetts Institute of Technology and Harvard University - Program in Medical and Population Genetics
Massachusetts, MA
United States
J. Jay Gargus
University of California, Irvine - Center for Autism Research and Translation
Irvine, CA
United States
Elisa Giorgio
University of Turin - Department of Medical Sciences
Corso Dogliotti, 14
Torino, 10126
Italy
Javier González-Peñas
Universidad Complutense de Madrid (UCM) - Department of Child and Adolescent Psychiatry
Madrid
Spain
Stephen Guter
University of Illinois at Chicago - Institute for Juvenile Research
Chicago, IL
United States
Danielle Halpern
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
New York City, NY
United States
Emily Hansen-Kiss
Nationwide Children's Hospital - The Research Institute
Columbus, OH
United States
Xin He
University of Chicago - Department of Human Genetics
920 E 58th St
Chicago, IL 60637
United States
Gail E. Herman
Nationwide Children's Hospital - The Research Institute
Columbus, OH
United States
Irva Hertz-Picciotto
University of California, Davis - MIND (Medical Investigation of Neurodevelopmental Disorders) Institute
Davis, CA
United States
David M. Hougaard
Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH)
Aarhus
Denmark
Christina M. Hultman
Karolinska Institutet - Department of Medical Epidemiology and Biostatistics
SE-171 82 Solna
Sweden
Iuliana Ionita-Laza
Columbia University - Mailman School of Public Health
600 West 168th St., 6th Floor
New York, NY 10032
United States
Suma Jacob
University of Illinois at Chicago - Institute for Juvenile Research
Chicago, IL
United States
Jesslyn Jamison
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
New York City, NY
United States
Astanand Jugessur
Norwegian Institute of Public Health
PO Box 4404
Nydalen, N-0403
Oslo
Norway
Miia Kaartinen
Tampere University - Department of Child Psychiatry
Tampere
Finland
Gun Peggy Knudsen
Norwegian Institute of Public Health
PO Box 4404
Nydalen, N-0403
Oslo
Norway
Alexander Kolevzon
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
New York City, NY
United States
Itaru Kushima
Nagoya University - Department of Psychiatry
Nagoya
Japan
So Lun Lee
The University of Hong Kong - Department of Pediatrics & Adolescent Medicine
Hong Kong
China
Terho Lehtimäki
Tampere University - Department of Clinical Chemistry
Tampere
Finland
Elaine T. Lim
Harvard University - Harvard Medical School
25 Shattuck St
Boston, MA 02115
United States
Carla Lintas
University Campus Biomedico
Rome
Italy
W. Ian Lipkin
Columbia University - Department of Biostatistics
722 West 168th Street
New York, NY 10032
United States
Diego Lopergolo
University of Siena - Medical Genetics
Siena
Italy
Fátima Lopes
University of Minho - Life and Health Sciences Research Institute (ICVS)
Campus de Gualtar
Braga
Portugal
Yunin Ludena
University of California, Davis - MIND (Medical Investigation of Neurodevelopmental Disorders) Institute
Davis, CA
United States
Patricia Maciel
University of Minho - Life and Health Sciences Research Institute (ICVS)
Campus de Gualtar
Braga
Portugal
Per Magnus
Norwegian Institute of Public Health - Centre for Fertility and Health,
PO Box 4404
Nydalen, N-0403
Oslo
Norway
Behrang Mahjani
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
New York City, NY
United States
Nell Maltman
University of Illinois at Chicago - Institute for Juvenile Research
Chicago, IL
United States
Dara S. Manoach
Harvard University - Department of Psychiatry ( email )
Boston, MA
United States
Gal Meiri
Harvard University - Department of Psychiatry
Boston, MA
United States
Idan Menashe
Ben-Gurion University of the Negev - Department of Public Health
Beer-Sheva
Israel
Judith Miller
University of Utah - Department of Internal Medicine
Salt Lake City, UT
United States
Nancy Minshew
University of Pittsburgh - Department of Psychiatry
Pittsburgh, PA 15219
United States
Eduarda Montenegro M. De Souza
University of São Paulo (USP) - Center for Research on the Human Genome and Stem Cells - Centro de Pesquisas sobre o Genoma Humano e Células Tronco
São Paulo
Brazil
Danielle Moreira
University of São Paulo (USP) - Center for Research on the Human Genome and Stem Cells - Centro de Pesquisas sobre o Genoma Humano e Células Tronco
São Paulo
Brazil
Eric M. Morrow
Brown University - Department of Psychiatry and Human Behavior
Providence, RI 02912
United States
Ole Mors
Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH)
Aarhus
Denmark
Preben Bo Mortensen
Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH)
Aarhus
Denmark
Matthew Mosconi
University of Illinois at Chicago - Institute for Juvenile Research
Chicago, IL
United States
Pierandrea Muglia
UCB - UCB Pharma, UK
B-1420 Braine-l'Alleud
Belgium
Benjamin M. Neale
Harvard University - Center for Human Genetic Research
55 Fruit Street Boston
Boston, MA 02114
United States
Merete Nordentoft
University of Copenhagen - Department of Clinical Medicine
Nørregade 10
Copenhagen, København DK-1165
Denmark
Norio Ozaki
Nagoya University - Department of Psychiatry
Nagoya
Japan
Aarno Palotie
Harvard University - Analytic and Translational Genetics Unit
Boston, MA
United States
Mara Parellada
Universidad Complutense de Madrid (UCM) - Department of Child and Adolescent Psychiatry
Madrid
Spain
Maria Rita Passos-Bueno
University of São Paulo (USP) - Center for Research on the Human Genome and Stem Cells - Centro de Pesquisas sobre o Genoma Humano e Células Tronco
São Paulo
Brazil
Margaret Pericak-Vance
University of Miami - John P Hussman Institute for Human Genomics
1501 NW 10th Ave.
Miami, FL 33136
United States
Antonio Persico
University of Messina - Interdepartmental Program “Autism 0-90”
Messina
Italy
Isaac Pessah
University of California, Davis - MIND (Medical Investigation of Neurodevelopmental Disorders) Institute
Davis, CA
United States
Kaija Puura
Tampere University - Department of Child Psychiatry
Tampere
Finland
Abraham Reichenberg
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
New York City, NY
United States
Alessandra Renieri
University of Siena - Medical Genetics
Siena
Italy
Evelise Riber
University of Turin - Department of Public Health and Pediatric Sciences
Turin
Italy
Elise B. Robinson
Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research
Cambridge, MA
United States
Kaitlin E. Samocha
Wellcome Genome Campus - Wellcome Trust Sanger Institute
Hinxton, Saffron Walden
Cambridge, England CB10 1SA
United Kingdom
Sven Sandin
Mount Sinai Health System - Department of Psychiatry
New York, NY 10025
United States
Susan L. Santangelo
MaineHealth - Maine Medical Center
22 Bramhall Street
Portland, ME 04102
United States
Gerry Schellenberg
University of Pennsylvania - Department of Pathology and Lab Medicine
3400 Spruce St.
Philadelphia, PA 19104-4238
United States
Stephen W. Scherer
University of Toronto - McLaughlin Centre
686 Bay Street, 13th Floor
Toronto, Ontario M5G 0A4
Canada
Sabine Schlitt
Goethe University Frankfurt - Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy
Frankfurt
Germany
Rebecca Schmidt
University of California, Davis - MIND (Medical Investigation of Neurodevelopmental Disorders) Institute
Davis, CA
United States
Lauren Schmitt
University of Illinois at Chicago - Institute for Juvenile Research
Chicago, IL
United States
Isabela Maya W. Silva
University of São Paulo (USP) - Center for Research on the Human Genome and Stem Cells - Centro de Pesquisas sobre o Genoma Humano e Células Tronco
São Paulo
Brazil
Tarjinder Singh
Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research
Cambridge, MA
United States
Paige M. Siper
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
New York City, NY
United States
Moyra Smith
University of California, Irvine - Center for Autism Research and Translation
Irvine, CA
United States
Gabriela Soares
National Health Institute Doutor Ricardo Jorge (INSA) - Center for Medical Genetics Dr. Jacinto Magalhães
Porto
Portugal
Camilla Stoltenberg
Norwegian Institute of Public Health
PO Box 4404
Nydalen, N-0403
Oslo
Norway
Pål Suren
Norwegian Institute of Public Health
PO Box 4404
Nydalen, N-0403
Oslo
Norway
Ezra Susser
Columbia University
3022 Broadway
New York, NY 10027
United States
John Sweeney
University of Illinois at Chicago - Institute for Juvenile Research
Chicago, IL
United States
Peter Szatmari
McMaster University - Department of Psychiatry and Behavioural Neurosciences
Hamilton, Ontario
Canada
Flora Tassone
University of California, Davis - MIND (Medical Investigation of Neurodevelopmental Disorders) Institute
Davis, CA
United States
Karoline Teufel
Goethe University Frankfurt - Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy
Frankfurt
Germany
Elisabetta Trabetti
University of Verona - Department of Neurosciences, Biomedicine and Movement Sciences
Verona
Italy
Maria Del Pilar Trelles
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
New York City, NY
United States
Christopher Walsh
Harvard University - Division of Genetics
Boston, MA
United States
Lara Tang
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
New York City, NY
United States
Lauren A. Weiss
University of California, San Francisco (UCSF) - Department of Psychiatry
505 Parnassus Ave
San Francisco, CA 94143
United States
Thomas Werge
Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH)
Aarhus
Denmark
Donna Werling
University of California, San Francisco (UCSF) - Department of Psychiatry
505 Parnassus Ave
San Francisco, CA 94143
United States
Emilie M. Wigdor
Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research
Cambridge, MA
United States
Emma Wilkinson
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
New York City, NY
United States
A. Jeremy Willsey
University of California, San Francisco (UCSF) - Department of Psychiatry
505 Parnassus Ave
San Francisco, CA 94143
United States
Tim Yu
Harvard University - Division of Genetics
Boston, MA
United States
Mullin H.C. Yu
The University of Hong Kong - Department of Pediatrics & Adolescent Medicine
Hong Kong
China
Ryan Yuen
University of Toronto - Program in Genetics and Genome Biology
Toronto
Canada
Elaine Zachi
University of São Paulo (USP) - Center for Research on the Human Genome and Stem Cells - Centro de Pesquisas sobre o Genoma Humano e Células Tronco
São Paulo
Brazil
IPSYCH Consortium Group
Independent
Catalina Betancur
Sorbonne University - Institut de Biologie Paris Seine
Paris
France
Edwin H. Cook
University of Illinois at Chicago - Institute for Juvenile Research
Chicago, IL
United States
Louise Gallagher
Trinity College (Dublin) - Department of Psychiatry
Dublin
Ireland
Michael Gill
Trinity College (Dublin) - Department of Psychiatry
Dublin
Ireland
James S. Sutcliffe
Vanderbilt University - Vanderbilt Genetics Institute
Nashville, TN
United States
Audrey Thurm
Government of the United States of America - National Institute of Mental Health
6001 Executive Boulevard, Rm. 7117, MSC 9629
Bethesda, MA 20892
United States
Michael E. Zwick
Emory University - Department of Human Genetics
Atlanta, GA
United States
Anders D. Børglum
Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH)
Aarhus
Denmark
Matthew W. State
University of California, San Francisco (UCSF) - Department of Psychiatry ( email )
505 Parnassus Ave
San Francisco, CA 94143
United States
A. Ercument Cicek
Carnegie Mellon University - Department of Statistics
Baker Hall 132
Pittsburgh, PA 15213
United States
Michael E. Talkowski
Harvard University - Center for Genomic Medicine ( email )
185 Cambridge Street
Boston, MA 02114
United States
David J. Cutler
Emory University - Department of Human Genetics
Atlanta, GA
United States
Bernie Devlin
University of Pittsburgh - Department of Psychiatry
Pittsburgh, PA 15219
United States
Stephan J. Sanders
University of California, San Francisco (UCSF) - Department of Psychiatry
505 Parnassus Ave
San Francisco, CA 94143
United States
Kathryn Roeder
Carnegie Mellon University - Department of Statistics
Baker Hall 132
Pittsburgh, PA 15213
United States
Mark J. Daly
Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research
Cambridge, MA
United States
Joseph Buxbaum (Contact Author)
Mount Sinai Health System - Seaver Autism Center for Research and Treatment
New York City, NY
United States
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