Simons Simplex Collection

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.

Are the components of social reciprocity transdiagnostic across pediatric neurodevelopmental disorders? Evidence for common and disorder-specific social impairments.

Paternally inherited cis-regulatory structural variants are associated with autism.

Associations between familial rates of psychiatric disorders and de novo genetic mutations in autism.

Child and family characteristics moderate agreement between caregiver and clinician report of autism symptoms.

Genetic analysis of very obese children with autism spectrum disorder.

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects.

Damaging de novo mutations diminish motor skills in children on the autism spectrum.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

MVP: Predicting pathogenicity of missense variants by deep neural networks.

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