Genetics

An expanded sequence context model broadly explains variability in polymorphism levels across the human genome.

Mutations in human accelerated regions disrupt cognition and social behavior.

The contribution of mosaic variants to autism spectrum disorder.

Increased burden of deleterious variants in essential genes in autism spectrum disorder.

Pleiotropic mechanisms indicated for sex differences in autism.

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population.

Genome sequencing of autism-affected families reveals disruption of putative noncoding regulatory DNA.

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

Genetic evidence for elevated pathogenicity of mitochondrial DNA heteroplasmy in autism spectrum disorder.

Histone acetylome-wide association study of autism spectrum disorder.