Genetics

Identifying foetal forebrain interneurons as a target for monogenic autism risk factors and the polygenic 16p11.2 microdeletion.

Relating pathogenic loss-of-function mutations in humans to their evolutionary fitness costs.

Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.

Large-scale metagenomic analysis of oral microbiomes reveals markers for autism spectrum disorders.

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

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.

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