Simons Simplex Collection

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.

Spectrum or subtypes? A latent profile analysis of restricted and repetitive behaviours in autism.

Gastrointestinal and psychiatric symptoms among children and adolescents with autism spectrum disorder.

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.

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