Genetics

Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.

Social and non-social autism symptoms and trait domains are genetically dissociable.

Partial bisulfite conversion for unique template sequencing.

An interaction-based model for neuropsychiatric features of copy-number variants.

Getting to the cores of autism.

Shared risk alleles with discordant polygenic effects: Disentangling the genetic overlap between ASD and ADHD.

Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify candidate risk genes and biological pathways.

Inherited and de novo genetic risk for autism impacts shared networks.

Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes.

Leveraging biobank-scale rare and common variant analyses to identify ASPHD1 as the main driver of reproductive traits in the 16p11.2 locus.

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