Simons Simplex Collection

Decomposition of phenotypic heterogeneity in autism reveals distinct and coherent genetic programs.

Human-specific gene expansions contribute to brain evolution.

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.

The female protective effect against autism spectrum disorder.

HAT: de novo variant calling for highly accurate short-read and long-read sequencing data.

KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design.

Precision autism: Genomic stratification of disorders making up the broad spectrum may demystify its “epidemic rates”.

Analysis of variant interactions in families with autism points to genes involved in the development of the central nervous system.

Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders.

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