Genetics

A framework for the interpretation of de novo mutation in human disease.

Investigation of maternal genotype effects in autism by genome-wide association.

Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.

Chromatin regulators, phenotypic robustness, and autism risk.

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

Unlocking epigenetic codes in neurogenesis.

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.

CRISPR-CAS9 knockin mice for genome editing and cancer modeling.

16p11.2 600 kb duplications confer risk for typical and atypical rolandic epilepsy.

The role of de novo mutations in the genetics of autism spectrum disorders.

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