A higher mutational burden in females supports a “female protective model” in neurodevelopmental disorders.
Genetics
SFARI Gene 2. A community-driven knowledgebase for the autism spectrum disorders (ASDs).
Whole-exome sequencing identifies mutated C12ORF57 in recessive corpus callosum hypoplasia.
Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders.
Fast association tests for genes with FAST.
Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis.
Reducing indel calling errors in whole genome and exome sequencing data.
Rare-variant extensions of the transmission disequilibrium test: Application to autism exome sequence data.
The contribution of de novo coding mutations to autism spectrum disorder.
A de novo convergence of autism genetics and molecular neuroscience.
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