Genetics

Accurate de novo and transmitted indel detection in exome-capture data using microassembly.

Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

Autism spectrum disorder severity reflects the average contribution of de novo and familial influences.

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.

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