Genetics

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

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.

Interactions of genetic risks for autism and the broad autism phenotypes.

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

Human-specific gene expansions contribute to brain evolution.

Multi-ancestry phenome-wide association of complement component 4 variation with psychiatric and brain phenotypes in youth.

Subcortical brain alterations in carriers of genomic copy number variants.

Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.

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

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