Simons Simplex Collection

Gamete simulation improves polygenic transmission disequilibrium analysis.

Exons as units of phenotypic impact for truncating mutations in autism.

De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families.

De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types.

Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.

Estimating genetic nurture with summary statistics of multi-generational genome-wide association studies.

Family history of eating disorder and the broad autism phenotype in autism.

Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families.

Mutational bias and the protein code shape the evolution of splicing enhancers.

MTSplice predicts effects of genetic variants on tissue-specific splicing.

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