The contribution of de novo coding mutations to autism spectrum disorder.
Genetics
A de novo convergence of autism genetics and molecular neuroscience.
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.
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