Genetics

De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.

The role of mGluR copy number variation in genetic and environmental forms of syndromic autism spectrum disorder.

Association of rare missense variants in the second intracellular loop of Na_V1.7 sodium channels with familial autism.

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.

Molecular subtyping and improved treatment of neurodevelopmental disease.

Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder.

A systematic variant annotation approach for ranking genes associated with autism spectrum disorders.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.

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