Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

Nature Genetics

Volumn 46, Issue 7, 2014, Pages 742-747

  Uddin, Mohammed ^a   Tammimies, Kristiina ^a,b   Pellecchia, Giovanna ^a   Alipanahi, Babak ^c   Hu, Pingzhao ^a   Wang, Zhuozhi ^a   Pinto, Dalila ^d   Lau, Lynette ^a   Nalpathamkalam, Thomas ^a   Marshall, Christian R ^a,c   Blencowe, Benjamin J ^e   Frey, Brendan J ^c,e   Merico, Daniele ^a   Yuen, Ryan K C ^a   Scherer, Stephen W ^a,c,e  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b Center of Neurodevelopmental Disorders (KIND)   (Sweden)

^c UNIVERSITY OF TORONTO   (Canada)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTISM; DNA SEQUENCE; EXON; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL; PURIFYING SELECTION; SIBLING;

ADOLESCENT; ADULT; BRAIN; CASE-CONTROL STUDIES; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; EXONS; FEMALE; GENE REGULATORY NETWORKS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MUTATION, MISSENSE; PHENOTYPE; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 84903590570     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2980     Document Type: Article

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