Preprints

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.

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

Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.

The neural bases of language processing during social and non-social contexts: A fNIRS study of autistic and neurotypical preschool-aged children.