Genetics

Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data.

Discovery of eQTL alleles associated with autism spectrum disorder: A case-control study.

Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease.

Association of mitochondrial DNA content, heteroplasmies and inter-generational transmission with autism.

Rare CNVs and phenome-wide profiling: A tale of brain-structural divergence and phenotypical convergence.

Rare variants and the oligogenic architecture of autism.

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.

The contributions of rare inherited and polygenic risk to ASD in multiplex families.

Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of autism genes.

SFARI genes and where to find them; modelling autism spectrum disorder specific gene expression dysregulation with RNA-seq data.

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