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

Neurodevelopmental disorders (NDDs), including intellectual disability (ID) and autism
spectrum disorders (ASD), are a large group of disorders in which early insults during brain …

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 …

Autism spectrum disorder (ASD) comprises a heterogeneous group of neurodevelopmental
outcomes in children with a commonality in deficits in social communication and language …

Assisted reproductive technology (ART) may affect fetal development through epigenetic
mechanisms as the timing of ART procedures coincides with the extensive epigenetic …

Childhood malignancies are rarely related to known environmental exposures, and it has
become increasingly evident that inherited genetic factors play a substantial causal role …

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

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

Background Individuals affected with autism often suffer additional co-morbidities such as
intellectual disability. The genes contributing to autism cluster on a relatively limited number …

The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder
characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual …