Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10(-15), ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Dalila
D
Pinto
Institut National de la Santé et de la Recherche Médicale U1130, 75005 Paris, France; Centre National de la Recherche Scientifique UMR 8246, 75005 Paris, France; Neuroscience Paris Seine, Université Pierre et Marie Curie (Paris 6), Sorbonne Universités, 75005 Paris, France.
Elsa
E
Delaby
Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada.
Daniele
D
Merico
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Mafalda
M
Barbosa
Discipline of Psychiatry, School of Medicine, Trinity College Dublin, Dublin 8, Ireland.
Alison
A
Merikangas
Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
Lambertus
L
Klei
Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada.
Bhooma
B
Thiruvahindrapuram
Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Xiao
X
Xu
Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada.
Robert
R
Ziman
Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada.
Zhuozhi
Z
Wang
Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, 3584CX Utrecht, the Netherlands.
Jacob A S
JA
Vorstman
Department of Psychiatry and Behavioural Neurosciences, Offord Centre for Child Studies, McMaster University, Hamilton, ON L8S 4K1, Canada.
Ann
A
Thompson
National Children's Research Centre, Our Lady's Children's Hospital, Dublin 12, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin 4, Ireland.
Regina
R
Regan
Institut National de la Santé et de la Recherche Médicale U1130, 75005 Paris, France; Centre National de la Recherche Scientifique UMR 8246, 75005 Paris, France; Neuroscience Paris Seine, Université Pierre et Marie Curie (Paris 6), Sorbonne Universités, 75005 Paris, France.
Marion
M
Pilorge
Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada.
Giovanna
G
Pellecchia
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Alistair T
AT
Pagnamenta
Instituto Nacional de Saúde Doutor Ricardo Jorge, 1649-016 Lisboa, Portugal; Center for Biodiversity, Functional, & Integrative Genomics, Faculty of Sciences, University of Lisbon, 1749-016 Lisboa, Portugal.
Bárbara
B
Oliveira
Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A1, Canada.
Christian R
CR
Marshall
National Children's Research Centre, Our Lady's Children's Hospital, Dublin 12, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin 4, Ireland.
Tiago R
TR
Magalhaes
Department of Neurology and Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Jennifer K
JK
Lowe
Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada.
Jennifer L
JL
Howe
John P. Hussman Institute for Human Genomics and Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
Anthony J
AJ
Griswold
John P. Hussman Institute for Human Genomics and Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
John
J
Gilbert
Department of Child and Adolescent Psychiatry, Psychosomatics, and Psychotherapy, Goethe University, 60528 Frankfurt am Main, Germany.
Eftichia
E
Duketis
Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Beth A
BA
Dombroski
Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, 3584CX Utrecht, the Netherlands.
Maretha V
MV
De Jonge
John P. Hussman Institute for Human Genomics and Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
Michael
M
Cuccaro
Vanderbilt Brain Institute, Center for Human Genetics Research, and Department of Molecular Physiology & Biophysics, Vanderbilt University, Nashville, TN 37232, USA.
Emily L
EL
Crawford
Instituto Nacional de Saúde Doutor Ricardo Jorge, 1649-016 Lisboa, Portugal; Center for Biodiversity, Functional, & Integrative Genomics, Faculty of Sciences, University of Lisbon, 1749-016 Lisboa, Portugal.
Catarina T
CT
Correia
Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin 4, Ireland; Children's University Hospital Temple Street, Dublin 1, Ireland.
Judith
J
Conroy
Instituto Nacional de Saúde Doutor Ricardo Jorge, 1649-016 Lisboa, Portugal; Center for Biodiversity, Functional, & Integrative Genomics, Faculty of Sciences, University of Lisbon, 1749-016 Lisboa, Portugal.
Inês C
IC
Conceição
Department of Child and Adolescent Psychiatry, Psychosomatics, and Psychotherapy, Goethe University, 60528 Frankfurt am Main, Germany.
Andreas G
AG
Chiocchetti
National Children's Research Centre, Our Lady's Children's Hospital, Dublin 12, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin 4, Ireland.
Jillian P
JP
Casey
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Guiqing
G
Cai
Institut National de la Santé et de la Recherche Médicale U1130, 75005 Paris, France; Centre National de la Recherche Scientifique UMR 8246, 75005 Paris, France; Neuroscience Paris Seine, Université Pierre et Marie Curie (Paris 6), Sorbonne Universités, 75005 Paris, France.
Christelle
C
Cabrol
Discipline of Psychiatry, School of Medicine, Trinity College Dublin, Dublin 8, Ireland.
Nadia
N
Bolshakova
Department of Pharmacy and Biotechnology, University of Bologna, 40126 Bologna, Italy.
Elena
E
Bacchelli
Discipline of Psychiatry, School of Medicine, Trinity College Dublin, Dublin 8, Ireland.
Richard
R
Anney
Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada.
Steven
S
Gallinger
Cancer Care Ontario, Toronto, ON M5G 2L7, Canada.
Michelle
M
Cotterchio
Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90089, USA.
Graham
G
Casey
Department of Pediatrics, University of Alberta, Edmonton, AB T6B 2H3, Canada.
Lonnie
L
Zwaigenbaum
School of Education, University of Birmingham, Birmingham B15 2TT, UK.
Kerstin
K
Wittemeyer
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Kirsty
K
Wing
Department of Psychiatry, University of Oxford and Warneford Hospital, Oxford OX3 7JX, UK.
Simon
S
Wallace
Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, 3584CX Utrecht, the Netherlands.
Herman
H
van Engeland
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Ana
A
Tryfon
Vanderbilt Brain Institute, Center for Human Genetics Research, and Department of Molecular Physiology & Biophysics, Vanderbilt University, Nashville, TN 37232, USA.
Susanne
S
Thomson
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Latha
L
Soorya
Unité de Recherche Interdisciplinaire Octogone, Centre d'Etudes et de Recherches en Psychopathologie, Toulouse 2 University, 31058 Toulouse, France.
Bernadette
B
Rogé
Autism Research Unit, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Wendy
W
Roberts
Department of Child and Adolescent Psychiatry, Psychosomatics, and Psychotherapy, Goethe University, 60528 Frankfurt am Main, Germany.
Fritz
F
Poustka
Unidade de Neurodesenvolvimento e Autismo do Serviço do Centro de Desenvolvimento da Criança and Centro de Investigação e Formação Clinica, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, Portugal; University Clinic of Pediatrics and Institute for Biomedical Imaging and Life Science, Faculty of Medicine, University of Coimbra, 3000-354 Coimbra, Portugal.
Susana
S
Mouga
Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
Nancy
N
Minshew
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
L Alison
LA
McInnes
Department of Pediatrics, Vanderbilt University, Nashville, TN 37232, USA.
Susan G
SG
McGrew
NewYork-Presbyterian/Weill Cornell Medical Center, New York, NY 10065, USA.
Catherine
C
Lord
FondaMental Foundation, 94010 Créteil, France; Institut National de la Santé et de la Recherche U955, Psychiatrie Génétique, 94010 Créteil, France; Faculté de Médecine, Université Paris Est, 94010 Créteil, France; Department of Psychiatry, Henri Mondor-Albert Chenevier Hospital, Assistance Publique - Hôpitaux de Paris, 94010 Créteil, France.
Marion
M
Leboyer
Institute of Health and Society, Newcastle University, Newcastle upon Tyne NE1 4LP, UK.
Ann S
AS
Le Couteur
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Alexander
A
Kolevzon
Child Developmental and Behavioral Unit, Hospital Nacional de Niños Dr. Sáenz Herrera, Caja Costarricense de Seguro Social, San José, Costa Rica.
Patricia
P
Jiménez González
Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, IL 60608, USA; Institute of Translational Neuroscience and Department of Psychiatry, University of Minnesota, Minneapolis, MN 55455, USA.
Suma
S
Jacob
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Richard
R
Holt
Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, IL 60608, USA.
Stephen
S
Guter
Institute of Brain, Behaviour, and Mental Health, University of Manchester, Manchester M13 9PL, UK; Manchester Academic Health Sciences Centre, Manchester M13 9NT, UK.
Jonathan
J
Green
Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin 4, Ireland; National Centre for Medical Genetics, Our Lady's Children's Hospital, Dublin 12, Ireland.
Andrew
A
Green
Gillberg Neuropsychiatry Centre, University of Gothenburg, 41119 Gothenburg, Sweden.
Christopher
C
Gillberg
Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, NL A1B 3V6, Canada.
Bridget A
BA
Fernandez
Unidade de Neurodesenvolvimento e Autismo do Serviço do Centro de Desenvolvimento da Criança and Centro de Investigação e Formação Clinica, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, Portugal; University Clinic of Pediatrics and Institute for Biomedical Imaging and Life Science, Faculty of Medicine, University of Coimbra, 3000-354 Coimbra, Portugal.
Frederico
F
Duque
FondaMental Foundation, 94010 Créteil, France; Human Genetics and Cognitive Functions Unit, Institut Pasteur, 75015 Paris, France; Centre National de la Recherche Scientifique URA 2182 (Genes, Synapses, and Cognition), Institut Pasteur, 75015 Paris, France; Department of Child and Adolescent Psychiatry, Robert Debré Hospital, Assistance Publique - Hôpitaux de Paris, 75019 Paris, France.
Richard
R
Delorme
Department of Psychiatry and Behavioral Sciences, Duke University School of Medicine, Durham, NC 27710, USA.
Geraldine
G
Dawson
Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA; FondaMental Foundation, 94010 Créteil, France.
Pauline
P
Chaste
Unidade de Neurodesenvolvimento e Autismo do Serviço do Centro de Desenvolvimento da Criança and Centro de Investigação e Formação Clinica, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, Portugal.
Cátia
C
Café
Discipline of Psychiatry, School of Medicine, Trinity College Dublin, Dublin 8, Ireland.
Sean
S
Brennan
FondaMental Foundation, 94010 Créteil, France; Human Genetics and Cognitive Functions Unit, Institut Pasteur, 75015 Paris, France; Centre National de la Recherche Scientifique URA 2182 (Genes, Synapses, and Cognition), Institut Pasteur, 75015 Paris, France; University Paris Diderot, Sorbonne Paris Cité, 75013 Paris, France.
Thomas
T
Bourgeron
Institute of Psychiatry, King's College London, London SE5 8AF, UK; South London & Maudsley Biomedical Research Centre for Mental Health, London SE5 8AF, UK.
Patrick F
PF
Bolton
Department of Child and Adolescent Psychiatry, Psychosomatics, and Psychotherapy, University of Frankfurt, 60528 Frankfurt, Germany.
Sven
S
Bölte
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Raphael
R
Bernier
Paediatric Neurodisability, King's Health Partners, King's College London, London WC2R 2LS, UK.
Gillian
G
Baird
Department of Psychiatry, University of Oxford and Warneford Hospital, Oxford OX3 7JX, UK.
Anthony J
AJ
Bailey
Bloorview Research Institute, University of Toronto, Toronto, ON M4G 1R8, Canada.
Evdokia
E
Anagnostou
Unidade de Neurodesenvolvimento e Autismo do Serviço do Centro de Desenvolvimento da Criança and Centro de Investigação e Formação Clinica, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, Portugal.
Joana
J
Almeida
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Department of Biostatistics, University of Washington, Seattle, WA 98195, USA.
Ellen M
EM
Wijsman
Battelle Center for Mathematical Medicine, The Research Institute at Nationwide Children's Hospital, Columbus, OH 43205, USA.
Veronica J
VJ
Vieland
Instituto Nacional de Saúde Doutor Ricardo Jorge, 1649-016 Lisboa, Portugal; Center for Biodiversity, Functional, & Integrative Genomics, Faculty of Sciences, University of Lisbon, 1749-016 Lisboa, Portugal.
Astrid M
AM
Vicente
Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Gerard D
GD
Schellenberg
John P. Hussman Institute for Human Genomics and Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
Margaret
M
Pericak-Vance
Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada; Dalla Lana School of Public Health, Toronto, ON M5T 3M7, Canada.
Andrew D
AD
Paterson
Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Jeremy R
JR
Parr
Unidade de Neurodesenvolvimento e Autismo do Serviço do Centro de Desenvolvimento da Criança and Centro de Investigação e Formação Clinica, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, Portugal; University Clinic of Pediatrics and Institute for Biomedical Imaging and Life Science, Faculty of Medicine, University of Coimbra, 3000-354 Coimbra, Portugal.
Guiomar
G
Oliveira
Institute of Psychiatric Research, Department of Psychiatry, Indiana University School of Medicine, Indianapolis, IN 46202, USA; Department of Medical and Molecular Genetics and Program in Medical Neuroscience, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
John I
JI
Nurnberger
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK; Office of the President, Tufts University, Medford, MA 02155, USA.
Anthony P
AP
Monaco
Department of Pharmacy and Biotechnology, University of Bologna, 40126 Bologna, Italy.
Elena
E
Maestrini
Division of Molecular Genome Analysis, German Cancer Research Center (Deutsches Krebsforschungszentrum), 69120 Heidelberg, Germany.
Sabine M
SM
Klauck
Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Hakon
H
Hakonarson
Vanderbilt Brain Institute, Center for Human Genetics Research, and Department of Molecular Physiology & Biophysics, Vanderbilt University, Nashville, TN 37232, USA.
Jonathan L
JL
Haines
Department of Neurology and Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Daniel H
DH
Geschwind
Department of Child and Adolescent Psychiatry, Psychosomatics, and Psychotherapy, Goethe University, 60528 Frankfurt am Main, Germany.
Christine M
CM
Freitag
Division of Child and Adolescent Psychiatry, Department of Psychiatry, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
Susan E
SE
Folstein
Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin 4, Ireland; National Centre for Medical Genetics, Our Lady's Children's Hospital, Dublin 12, Ireland.
Sean
S
Ennis
Utah Autism Research Program, Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, UT 84108, USA.
Hilary
H
Coon
Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, 56128 Calambrone, Pisa, Italy.
Agatino
A
Battaglia
Department of Psychiatry and Behavioural Neurosciences, Offord Centre for Child Studies, McMaster University, Hamilton, ON L8S 4K1, Canada.
Peter
P
Szatmari
Vanderbilt Brain Institute, Center for Human Genetics Research, and Department of Molecular Physiology & Biophysics, Vanderbilt University, Nashville, TN 37232, USA.
James S
JS
Sutcliffe
Department of Psychiatry, Stanford University Medical School, Stanford, CA 94305, USA.
Joachim
J
Hallmayer
Discipline of Psychiatry, School of Medicine, Trinity College Dublin, Dublin 8, Ireland.
Michael
M
Gill
Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, IL 60608, USA.
Edwin H
EH
Cook
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Joseph D
JD
Buxbaum
Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
Bernie
B
Devlin
Discipline of Psychiatry, School of Medicine, Trinity College Dublin, Dublin 8, Ireland.
Louise
L
Gallagher
Institut National de la Santé et de la Recherche Médicale U1130, 75005 Paris, France; Centre National de la Recherche Scientifique UMR 8246, 75005 Paris, France; Neuroscience Paris Seine, Université Pierre et Marie Curie (Paris 6), Sorbonne Universités, 75005 Paris, France. Electronic address: catalina.betancur@inserm.fr.
Catalina
C
Betancur
Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A1, Canada. Electronic address: stephen.scherer@sickkids.ca.
Stephen W
SW
Scherer
D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D056915:DNA Copy Number Variations; D005260:Female; D053263:Gene Regulatory Networks; D006801:Humans; D008297:Male; D053858:Metabolic Networks and Pathways / Q000235:genetics*; D005810:Multigene Family; D010375:Pedigree; D017384:Sequence Deletion