Simons Simplex Collection

Insistence on sameness and broader autism phenotype in simplex families with autism spectrum disorder.

Calculating the effects of autism risk gene variants on dysfunction of biological processes identifies clinically-useful information.

MAP1B mutations cause intellectual disability and extensive white matter deficit.

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk.

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.

Case-control meta-analysis of blood DNA methylation and autism spectrum disorder.

Characteristics of sleep in children with autism spectrum disorders from the Simons Simplex Collection.

An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders.

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.

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