Preprints

Integrating causal discovery and clinically-relevant insights to explore directional relationships between autistic features, sex at birth, and cognitive abilities.

Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability.

Examining the latent structure and correlates of sensory reactivity in autism: a multi-site integrative data analysis by the autism sensory research consortium.

Estimation of direct and indirect polygenic effects and gene-environment interactions using polygenic scores in case-parent trio studies.

Increasing power in language genetics with Lingo: A web-based digital phenotyping platform.

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

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.