Simons Simplex Collection

Discovery of autism/intellectual disability somatic mutations in Alzheimer’s brains: mutated ADNP cytoskeletal impairments and repair as a case study

Sharing parental genomes by siblings concordant or discordant for autism.

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.

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.