Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related
dystonia (DYT-KMT2B), the authors undertook genome-wide methylation profiling of∼ 2 M …

Pathogenic variants in KMT2D, which encodes lysine specific methyltransferase 2D, cause
autosomal dominant Kabuki syndrome, associated with distinctive dysmorphic features …

Methylation tests have been used for decades in regular DNA diagnostics focusing primarily
on Imprinting disorders or specific loci annotated to specific disease associated gene …

DNA methylation in the human genome is largely programmed and shaped by transcription
factor binding and interaction between DNA methyltransferases and histone marks during …

Congenital heart defects occur in almost 80% of patients with CHARGE syndrome, a
sporadically occurring disease causing craniofacial and other abnormalities due to …

Neural crest cells are highly migratory pluripotent cells that give rise to diverse derivatives
including cartilage, bone, smooth muscle, pigment, and endocrine cells as well as neurons …

Kabuki syndrome (KS) is a rare, multisystem disorder with a variable clinical phenotype. The
majority of KS is caused by dominant loss-of-function mutations in KMT2D (lysine …

CHARGE syndrome is characterized by a pattern of congenital anomalies (Coloboma of the
eye, Heart defects, Atresia of the choanae, Retardation of growth, Genital abnormalities, and …

Williams-Beuren syndrome (WBS) and 7q11. 23 duplication syndrome (Dup7) are rare
neurodevelopmental disorders caused by deletion and duplication of a 1.5 Mb region that …

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