Despite advances in clinical genetic testing, including the introduction of exome sequencing
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …

The OMICs cascade describes the hierarchical flow of information through biological
systems. The epigenome sits at the apex of the cascade, thereby regulating the RNA and …

Common variable immunodeficiency (CVID), the most prevalent symptomatic primary
immunodeficiency, displays impaired terminal B-cell differentiation and defective antibody …

The additional sex combs-like (ASXL) gene family—encoded by ASXL1, ASXL2, and ASXL3—
is crucial for mammalian development. Pathogenic variants in the ASXL gene family are …

X-linked myotubular myopathy (XLMTM) is a fatal neuromuscular disorder caused by loss of
function mutations in MTM1. At present, there are no directed therapies for XLMTM, and …

Long interspersed nucleotide element-1 (LINE-1) and Alu elements are retrotransposons
whose abilities cause abnormal gene expression and genomic instability. Several studies …

Trithorax-related H3K4 methyltransferases, KMT2C and KMT2D, are critical epigenetic
modifiers. Haploinsufficiency of KMT2C was only recently recognized as a cause of …

Background: Epigenetics, and especially DNA methylation, contributes to the pathogenesis
of sporadic amyotrophic lateral sclerosis (SALS). This study aimed to investigate the role of …

Pathogenic variants in genes that encode epigenetic regulators are the cause for more than
100 rare neurodevelopmental syndromes also termed “chromatinopathies”. DNA …

Misregulation of histone lysine methylation is associated with several human cancers and
with human developmental disorders. DOT1L is an evolutionarily conserved gene encoding …