Ontology highlight
ABSTRACT:
SUBMITTER: Buja A
PROVIDER: S-EPMC5828599 | biostudies-literature | 2018 Feb
REPOSITORIES: biostudies-literature
Buja Andreas A Volfovsky Natalia N Krieger Abba M AM Lord Catherine C Lash Alex E AE Wigler Michael M Iossifov Ivan I
Proceedings of the National Academy of Sciences of the United States of America 20180206 8
In individuals with autism spectrum disorder (ASD), de novo mutations have previously been shown to be significantly correlated with lower IQ but not with the core characteristics of ASD: deficits in social communication and interaction and restricted interests and repetitive patterns of behavior. We extend these findings by demonstrating in the Simons Simplex Collection that damaging de novo mutations in ASD individuals are also significantly and convincingly correlated with measures of impaire ...[more]