Whole-exome sequencing (WES) represents a significant breakthrough in clinical genetics,
and identifies a genetic etiology in up to 30% of cases of intellectual disability (ID). Using …

Clinical whole-exome sequencing (WES) for identification of mutations leading to Mendelian
disease has been offered to the medical community since 2011. Clinically undiagnosed …

Variants in the chromodomain helicase DNA‐binding protein 8 (CHD8) have been
associated with intellectual disability (ID), autism spectrum disorders (ASDs) and overgrowth …

Background Array‐comparative genomic hybridization (array‐CGH) is a widely used
technique to detect copy number variants (CNVs) associated with developmental …

Polyglutamine expansions in the transcriptional co-repressor Atrophin-1, encoded by ATN1,
cause the neurodegenerative condition dentatorubral-pallidoluysian atrophy (DRPLA) via a …

Recent large‐scale exome sequencing studies have identified mutations in several
members of the CHD (Chromodomain Helicase DNA‐binding protein) gene family in …

Histone deacetylases play crucial roles in the regulation of chromatin structure and gene
expression in the eukaryotic cell, and disruption of their activity causes a wide range of …

Xia-Gibbs syndrome is a rare genetic condition characterized by intellectual disability,
growth retardation, delayed psychomotor development with absent or poor expressive …

Located in the critical 1p36 microdeletion region, the chromodomain helicase DNA-binding
protein 5 (CHD5) gene encodes a subunit of the nucleosome remodeling and deacetylation …

Mutations in the chromodomain helicase DNA-binding 2 (CHD2) gene have been found in
patients with a range of neurodevelopmental disorders. In this issue of Neuron, Kim et …