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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

87 Pages Posted: 2 May 2019 Sneak Peek Status: Review Complete

See all articles by F. Kyle Satterstrom

F. Kyle Satterstrom

Masssachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research

Jack A. Kosmicki

Masssachusetts 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

Masssachusetts 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

Masssachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research

Sherif Gerges

Masssachusetts 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

Boston Children's Hospital - 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

Boston Children's Hospital - 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 Pediatrics

Christine M. Freitag

Goethe University Frankfurt - Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy

Menachem Fromer

Masssachusetts 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

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

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 Pharma

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 Pediatrics

Elise B. Robinson

Masssachusetts 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

Masssachusetts 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

Boston Children's Hospital - 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

Masssachusetts 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

Boston Children's Hospital - 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

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

Masssachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research

Joseph Buxbaum

Mount Sinai Health System - Seaver Autism Center for Research and Treatment

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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

Satterstrom, F. Kyle and Kosmicki, Jack A. and Wang, Jiebiao and Breen, Michael S and De Rubeis, Silvia and An, Joon-Yong and Peng, Minshi and Collins, Ryan L. and Grove, Jakob and Klei, Lambertus and Stevens, Christine and Reichert, Jennifer and Mulhern, Maureen S. and Artomov, Mykyta and Gerges, Sherif and Sheppard, Brooke and Xu, Xinyi and Bhaduri, Aparna and Norman, Utku and Brand, Harrison and Schwartz, Grace and Nguyen, Rachel and Guerrero, Elizabeth E. and Dias, Caroline and Aleksic, Branko and Barbosa, Mafalda and Bishop, Somer and Brusco, Alfredo and Bybjerg-Grauholm, Jonas and Carracedo, Angel and Chan, Marcus C. Y. and Chiocchetti, Andreas G. and Chung, Brian H. Y. and Coon, Hilary and Cuccaro, Michael L. and Currò, Aurora and Bernardina, Bernardo Dalla and Doan, Ryan and Domenici, Enrico and Dong​, Shan and Fallerini, Chiara and Fernández-Prieto, Montserrat and Ferrero, Giovanni Battista and Freitag, Christine M. and Fromer, Menachem and Gargus, J. Jay and Giorgio, Elisa and González-Peñas, Javier and Guter, Stephen and Halpern, Danielle and Hansen-Kiss, Emily and He, Xin and Herman, Gail E. and Hertz-Picciotto, Irva and Hougaard, David M. and Hultman, Christina M. and Ionita-Laza, Iuliana and Jacob, Suma and Jamison, Jesslyn and Jugessur, Astanand and Kaartinen, Miia and Knudsen, Gun Peggy and Kolevzon, Alexander and Kushima, Itaru and Lee, So Lun and Lehtimäki, Terho and Lim, Elaine T. and Lintas, Carla and Lipkin, W. Ian and Lopergolo, Diego and Lopes, Fátima and Ludena, Yunin and Maciel, Patricia and Magnus, Per and Mahjani, Behrang and Maltman, Nell and Manoach, Dara S. and Meiri, Gal and Menashe, Idan and Miller, Judith and Minshew, Nancy and de Souza, Eduarda Montenegro M. and Moreira, Danielle and Morrow, Eric M. and Mors, Ole and Mortensen, Preben Bo and Mosconi, Matthew and Muglia, Pierandrea and Neale, Benjamin M. and Nordentoft, Merete and Ozaki, Norio and Palotie, Aarno and Parellada, Mara and Passos-Bueno, Maria Rita and Pericak-Vance, Margaret and Persico, Antonio and Pessah, Isaac and Puura, Kaija and Reichenberg, Abraham and Renieri, Alessandra and Riber, Evelise and Robinson, Elise B. and Samocha, Kaitlin E. and Sandin, Sven and Santangelo, Susan L. and Schellenberg, Gerry and Scherer, Stephen W. and Schlitt, Sabine and Schmidt, Rebecca and Schmitt, Lauren and Silva, Isabela Maya W. and Singh, Tarjinder and Siper, Paige M. and Smith, Moyra and Soares, Gabriela and Stoltenberg, Camilla and Suren, Pål and Susser, Ezra and Sweeney, John and Szatmari, Peter and Tassone, Flora and Teufel, Karoline and Trabetti, Elisabetta and del Pilar Trelles, Maria and Walsh, Christopher and Tang, Lara and Weiss, Lauren A. and Werge, Thomas and Werling, Donna and Wigdor, Emilie M. and Wilkinson, Emma and Willsey, A. Jeremy and Yu, Tim and H.C. Yu, Mullin and Yuen, Ryan and Zachi, Elaine and Group, iPSYCH Consortium and Betancur, Catalina and Cook, Edwin H. and Gallagher, Louise and Gill, Michael and Sutcliffe, James S. and Thurm, Audrey and Zwick, Michael E. and Børglum, Anders D. and State, Matthew W. and Cicek, A. Ercument and Talkowski, Michael E. and Cutler, David J. and Devlin, Bernie and Sanders, Stephan J. and Roeder, Kathryn and Daly, Mark J. and Buxbaum, Joseph, Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (April 13, 2019). Available at SSRN: https://ssrn.com/abstract=3371405 or http://dx.doi.org/10.2139/ssrn.3371405
This is a paper under consideration at Cell Press and has not been peer-reviewed.

F. Kyle Satterstrom

Masssachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research

Cambridge, MA
United States

Jack A. Kosmicki

Masssachusetts 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

Masssachusetts 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

Masssachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research

Cambridge, MA
United States

Sherif Gerges

Masssachusetts 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

Boston Children's Hospital - 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

Boston Children's Hospital - 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 Pediatrics

Turin
Italy

Christine M. Freitag

Goethe University Frankfurt - Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy

Frankfurt
Germany

Menachem Fromer

Masssachusetts 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

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

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 Pharma

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 Pediatrics

Turin
Italy

Elise B. Robinson

Masssachusetts 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

Masssachusetts 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

Boston Children's Hospital - 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

Masssachusetts 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

Boston Children's Hospital - 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

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

Masssachusetts 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

No contact information is available for IPSYCH Consortium Group

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