Simons Simplex Collection

Three generation families: Analysis of de novo variants in autism.

Quantitative genome-wide association study of six phenotypic subdomains identifies novel genome-wide significant variants in autism spectrum disorder.

Autism spectrum disorder trios from consanguineous populations are enriched for rare biallelic variants, identifying 32 new candidate genes.

Scn2a severe hypomorphic mutation decreases excitatory synaptic input and causes autism-associated behaviors

A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3.

A novel SMARCC1-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.

Phenotypically driven subgroups of ASD display distinct metabolomic profiles.

Novel maternal autoantibodies in autism spectrum disorder: Implications for screening and diagnosis.

Mapping and characterization of structural variation in 17,795 human genomes.

Assessing child postural variability: Development, feasibility, and reliability of a video coding system.

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