Simons Simplex Collection

Increased expression of the PI3K catalytic subunit p110-delta underlies elevated S6 phosphorylation and protein synthesis in an individual with autism from a multiplex family.

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

Language ability predicts cortical structure and covariance in boys with autism spectrum disorder.

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.

Identification of developmental and behavioral markers associated with genetic abnormalities in autism spectrum disorder.

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Reverse pathway genetic approach identifies epistasis in autism spectrum disorders.

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