Simons Simplex Collection

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.

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Shorter sleep duration is associated with social impairment and comorbidities in ASD.

Severity of ASD symptoms and their correlation with the presence of copy number variations and exposure to first trimester ultrasound.

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.

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