Genetics

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

The discovery of integrated gene networks for autism and related disorders.

Maternal modifiers and parent-of-origin bias of the autism-associated 16p11.2 CNV.

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

From de novo mutations to personalized therapeutic interventions in autism.

Genotype to phenotype relationships in autism spectrum disorders.

An expanded sequence context model broadly explains variability in polymorphism levels across the human genome.

Mutations in human accelerated regions disrupt cognition and social behavior.

The contribution of mosaic variants to autism spectrum disorder.

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