Simons Simplex Collection

The Genotype and Phenotypes in Families (GPF) platform manages the large and complex data at SFARI.

Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk.

Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene.

Protocol for the development of joint attention-based subclassification of autism spectrum disorder and validation using multi-modal data.

The contributions of rare inherited and polygenic risk to ASD in multiplex families.

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.

VBASS enables integration of single cell gene expression data in Bayesian association analysis of rare variants.

Discovery of autism/intellectual disability somatic mutations in Alzheimer’s brains: mutated ADNP cytoskeletal impairments and repair as a case study

Sharing parental genomes by siblings concordant or discordant for autism.

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

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