DNA methylation (DNAme) and histone post-translational modifications (PTMs) have
important roles in transcriptional regulation. Although many reports have characterized the …

An increasing number of epilepsies are being attributed to variants in genes with epigenetic
functions. The products of these genes include factors that regulate the structure and …

Purpose We describe the clinical implementation of genome-wide DNA methylation analysis
in rare disorders across the EpiSign diagnostic laboratory network and the assessment of …

Genetic syndromes frequently present with overlapping clinical features and inconclusive or
ambiguous genetic findings which can confound accurate diagnosis and clinical …

Overlapping clinical phenotypes and an expanding breadth and complexity of genomic
associations are a growing challenge in the diagnosis and clinical management of …

Nuclear factor, erythroid 2 like 2 (NFE2L2, NRF2) is a transcription factor that regulates
various antioxidant enzymes. It plays a vital physiological role in regulating oxidative stress …

An expanding range of genetic syndromes are characterized by genome‐wide disruptions in
DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly …

SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that
belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA …

Abstract Background Neurodevelopmental disorders (NDDs) are a group of heterogeneous
conditions, which include mainly intellectual disability, developmental delay (DD) and …

In this review we discuss epigenetic disorders that result from aberrations in genes linked to
epigenetic regulation. We describe current testing methods for the detection of copy number …