Natural neural projection dynamics underlying social behavior.
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.
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.
Whole-exome sequencing identifies mutated C12ORF57 in recessive corpus callosum hypoplasia.
Rare complete knockouts in humans: Population distribution and significant role in autism spectrum disorders.
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
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