Ontology highlight
ABSTRACT:
SUBMITTER: Bernier R
PROVIDER: S-EPMC4136921 | biostudies-literature | 2014 Jul
REPOSITORIES: biostudies-literature
Cell 20140703 2
Autism spectrum disorder (ASD) is a heterogeneous disease in which efforts to define subtypes behaviorally have met with limited success. Hypothesizing that genetically based subtype identification may prove more productive, we resequenced the ASD-associated gene CHD8 in 3,730 children with developmental delay or ASD. We identified a total of 15 independent mutations; no truncating events were identified in 8,792 controls, including 2,289 unaffected siblings. In addition to a high likelihood of ...[more]