title: Resequencing at scale in neurodevelopmental disorders.
abstract: An international collaboration has assembled DNA samples and detailed phenotypic information from >13,000 individuals with a clinical diagnosis of either autism spectrum disorder (ASD) or intellectual disability/developmental delay (ID/DD). The application of molecular inversion probe technologies to sequence 208 candidate genes at scale in this impressive resource has identified a large set of plausibly causative mutations for these disorders.
authors.affiliation: MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, UK.
authors.forename: David R
authors.initials: DR
authors.lastname: FitzPatrick
mesh_terms: D000067877:Autism Spectrum Disorder / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*