Genetics

Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorder.

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.

Simons Variation in Individuals Project (Simons VIP): A genetics-first approach to studying autism spectrum and related neurodevelopmental disorders.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

The emerging biology of autism spectrum disorders.

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

Genome-wide DNA hydroxymethylation changes are associated with neurodevelopmental genes in the developing human cerebellum.

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