Genetics

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

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.