Genetics

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.

Age-associated DNA methylation in pediatric populations.

Networks of neuronal genes affected by common and rare variants in autism spectrum disorders.

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Postmortem cardiac tissue maintains gene expression profile even after late harvesting.

High‐throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism

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