Recessive gene disruptions in autism spectrum disorder.

Allelic Imbalance Autism Spectrum Disorder / genetics Case-Control Studies Cohort Studies Female Genes, Recessive / genetics Genetic Predisposition to Disease Genome, Human Humans Male Mutation, Missense Exome Sequencing

Journal

Nature genetics
ISSN: 1546-1718
Titre abrégé: Nat Genet
Pays: United States
ID NLM: 9216904

Informations de publication

Date de publication:
07 2019
Historique:
received: 25 10 2018
accepted: 02 05 2019
pubmed: 19 6 2019
medline: 23 1 2020
entrez: 19 6 2019
Statut: ppublish

Résumé

Autism spectrum disorder (ASD) affects up to 1 in 59 individuals

Identifiants

DOI: 10.1038/s41588-019-0433-8 PMID: 31209396 PMC: PMC6629034
pubmed: 31209396
doi: 10.1038/s41588-019-0433-8
pii: 10.1038/s41588-019-0433-8
pmc: PMC6629034
mid: NIHMS1528530
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1092-1098

Subventions

Organisme : NCRR NIH HHS
ID : S10 RR028832
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH083565
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH097849
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH100229
Pays : United States
Organisme : NIMH NIH HHS
ID : RC2 MH089952
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH100209
Pays : United States
Organisme : NICHD NIH HHS
ID : U19 HD077671
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH111658
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH111661
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH111662
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH113761
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH111660
Pays : United States
Organisme : NICHD NIH HHS
ID : U24 HD093487
Pays : United States
Organisme : Medical Research Council
ID : MR/R006237/1
Pays : United Kingdom
Organisme : NIMH NIH HHS
ID : U01 MH100233
Pays : United States

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Auteurs

Ryan N Doan (RN)

Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Harvard Medical School, Boston, MA, USA.

Elaine T Lim (ET)

Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0003-3651-0654

Silvia De Rubeis (S)

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Catalina Betancur (C)

Neuroscience Paris Seine, Institut de Biologie Paris Seine, Sorbonne Université, INSERM, CNRS, Paris, France.
ORCID: 0000-0002-3327-4804

David J Cutler (DJ)

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

Andreas G Chiocchetti (AG)

Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Autism Research and Intervention Center of Excellence, University Hospital Frankfurt, Goethe University, Frankfurt, Germany.

Lynne M Overman (LM)

Human Developmental Biology Resource, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle-upon-Tyne, UK.

Aubrie Soucy (A)

Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
ORCID: 0000-0001-8633-0032

Susanne Goetze (S)

Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.

Christine M Freitag (CM)

Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Autism Research and Intervention Center of Excellence, University Hospital Frankfurt, Goethe University, Frankfurt, Germany.

Mark J Daly (MJ)

Harvard Medical School, Boston, MA, USA.
The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Human Genetic Research, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
ORCID: 0000-0002-0949-8752

Christopher A Walsh (CA)

Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Harvard Medical School, Boston, MA, USA.
The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.
ORCID: 0000-0002-0156-2238

Joseph D Buxbaum (JD)

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Timothy W Yu (TW)

Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.
Harvard Medical School, Boston, MA, USA. timothy.yu@childrens.harvard.edu.
The Broad Institute of MIT and Harvard, Cambridge, MA, USA. timothy.yu@childrens.harvard.edu.
ORCID: 0000-0003-2988-7701

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Déséquilibre allélique › Recessive gene disruptions in autism spectrum disorder.
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Troubles généralisés du développement de l'enfant › Trouble du spectre autistique › Recessive gene disruptions in autism spectrum disorder.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études cas-témoins › Recessive gene disruptions in autism spectrum disorder.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Recessive gene disruptions in autism spectrum disorder.
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Gènes récessifs › Recessive gene disruptions in autism spectrum disorder.
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Recessive gene disruptions in autism spectrum disorder.
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Génome humain › Recessive gene disruptions in autism spectrum disorder.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Recessive gene disruptions in autism spectrum disorder.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › Recessive gene disruptions in autism spectrum disorder.
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome › Recessive gene disruptions in autism spectrum disorder.