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

iPSYCH-Broad Consortium; Autism Sequencing Consortium

doi:10.1016/j.cell.2019.12.036

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

iPSYCH-Broad Consortium, Autism Sequencing Consortium

Department of Epidemiology, Biostatistics and Community Health Sciences

Research output: Contribution to journal › Article › peer-review

1280 Scopus citations

Abstract

Large-scale sequencing of patients with autism allows identification of over 100 putative ASD-associated genes, the majority of which are neuronally expressed, and investigation of distinct genetic influences on ASD compared with other neurodevelopmental disorders.

Original language	English
Pages (from-to)	568-584.e23
Journal	Cell
Volume	180
Issue number	3
DOIs	https://doi.org/10.1016/j.cell.2019.12.036
State	Published - 6 Feb 2020

Keywords

autism spectrum disorder
cell type
cytoskeleton
excitatory neurons
excitatory-inhibitory balance
exome sequencing
genetics
inhibitory neurons
liability
neurodevelopment

ASJC Scopus subject areas

General Biochemistry, Genetics and Molecular Biology

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10.1016/j.cell.2019.12.036

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@article{a54cbf62191444e4a3bd26f68688a652,

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

abstract = "Large-scale sequencing of patients with autism allows identification of over 100 putative ASD-associated genes, the majority of which are neuronally expressed, and investigation of distinct genetic influences on ASD compared with other neurodevelopmental disorders.",

keywords = "autism spectrum disorder, cell type, cytoskeleton, excitatory neurons, excitatory-inhibitory balance, exome sequencing, genetics, inhibitory neurons, liability, neurodevelopment",

author = "{iPSYCH-Broad Consortium} and {Autism Sequencing Consortium} and Satterstrom, {F. Kyle} and Kosmicki, {Jack A.} and Jiebiao Wang and Breen, {Michael S.} and {De Rubeis}, Silvia and An, {Joon Yong} and Minshi Peng and Ryan Collins and Jakob Grove and Lambertus Klei and Christine Stevens and Jennifer Reichert and Mulhern, {Maureen S.} and Mykyta Artomov and Sherif Gerges and Brooke Sheppard and Xinyi Xu and Aparna Bhaduri and Utku Norman and Harrison Brand and Grace Schwartz and Rachel Nguyen and Guerrero, {Elizabeth E.} and Caroline Dias and Branko Aleksic and Richard Anney and Mafalda Barbosa and Somer Bishop and Alfredo Brusco and Jonas Bybjerg-Grauholm and Angel Carracedo and Chan, {Marcus C.Y.} and Chiocchetti, {Andreas G.} and Chung, {Brian H.Y.} and Hilary Coon and Cuccaro, {Michael L.} and Aurora Curr{\'o} and {Dalla Bernardina}, Bernardo and Ryan Doan and Enrico Domenici and Shan Dong and Chiara Fallerini and Montserrat Fern{\'a}ndez-Prieto and Ferrero, {Giovanni Battista} and Freitag, {Christine M.} and Menachem Fromer and Gargus, {J. Jay} and Daniel Geschwind and Gal Meiri and Idan Menashe",

note = "Publisher Copyright: {\textcopyright} 2020 Elsevier Inc.",

year = "2020",

month = feb,

day = "6",

doi = "10.1016/j.cell.2019.12.036",

language = "English",

volume = "180",

pages = "568--584.e23",

journal = "Cell",

issn = "0092-8674",

publisher = "Elsevier B.V.",

number = "3",

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TY - JOUR

T1 - Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

AU - iPSYCH-Broad Consortium

AU - Autism Sequencing Consortium

AU - Satterstrom, F. Kyle

AU - Kosmicki, Jack A.

AU - Wang, Jiebiao

AU - Breen, Michael S.

AU - De Rubeis, Silvia

AU - An, Joon Yong

AU - Peng, Minshi

AU - Collins, Ryan

AU - Grove, Jakob

AU - Klei, Lambertus

AU - Stevens, Christine

AU - Reichert, Jennifer

AU - Mulhern, Maureen S.

AU - Artomov, Mykyta

AU - Gerges, Sherif

AU - Sheppard, Brooke

AU - Xu, Xinyi

AU - Bhaduri, Aparna

AU - Norman, Utku

AU - Brand, Harrison

AU - Schwartz, Grace

AU - Nguyen, Rachel

AU - Guerrero, Elizabeth E.

AU - Dias, Caroline

AU - Aleksic, Branko

AU - Anney, Richard

AU - Barbosa, Mafalda

AU - Bishop, Somer

AU - Brusco, Alfredo

AU - Bybjerg-Grauholm, Jonas

AU - Carracedo, Angel

AU - Chan, Marcus C.Y.

AU - Chiocchetti, Andreas G.

AU - Chung, Brian H.Y.

AU - Coon, Hilary

AU - Cuccaro, Michael L.

AU - Curró, Aurora

AU - Dalla Bernardina, Bernardo

AU - Doan, Ryan

AU - Domenici, Enrico

AU - Dong, Shan

AU - Fallerini, Chiara

AU - Fernández-Prieto, Montserrat

AU - Ferrero, Giovanni Battista

AU - Freitag, Christine M.

AU - Fromer, Menachem

AU - Gargus, J. Jay

AU - Geschwind, Daniel

AU - Meiri, Gal

AU - Menashe, Idan

PY - 2020/2/6

Y1 - 2020/2/6

N2 - Large-scale sequencing of patients with autism allows identification of over 100 putative ASD-associated genes, the majority of which are neuronally expressed, and investigation of distinct genetic influences on ASD compared with other neurodevelopmental disorders.

AB - Large-scale sequencing of patients with autism allows identification of over 100 putative ASD-associated genes, the majority of which are neuronally expressed, and investigation of distinct genetic influences on ASD compared with other neurodevelopmental disorders.

KW - autism spectrum disorder

KW - cell type

KW - cytoskeleton

KW - excitatory neurons

KW - excitatory-inhibitory balance

KW - exome sequencing

KW - genetics

KW - inhibitory neurons

KW - liability

KW - neurodevelopment

UR - http://www.scopus.com/inward/record.url?scp=85078664833&partnerID=8YFLogxK

U2 - 10.1016/j.cell.2019.12.036

DO - 10.1016/j.cell.2019.12.036

M3 - Article

C2 - 31981491

AN - SCOPUS:85078664833

SN - 0092-8674

VL - 180

SP - 568-584.e23

JO - Cell

JF - Cell

IS - 3

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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