Mendelian disorders of the epigenetic machinery are a newly delineated group of multiple
congenital anomaly and intellectual disability syndromes resulting from mutations in genes …

The epigenetic machinery in conjunction with the transcriptional machinery is responsible
for maintaining genome-wide chromatin states and dynamically regulating gene expression. …

We examined the relationship between aberrant DNA hypermethylation and key histone
code components at a hypermethylated, silenced tumor suppressor gene promoter in human …

Histone H3 lysine 9 (H3K9) and lysine 27 (H3K27) trimethylation are properties of stably
silenced heterochromatin whereas H3K9 dimethylation (H3K9me2) is important for euchromatic …

A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and
presents as childhood epileptic encephalopathy - Fahrner - 2016 - American Journal of …

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

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

Wiedemann‐Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic
variants in KMT2A and characterized by intellectual disability and hypertrichosis. We …

Lumenal delivery of adenovirus vectors (AdV) results in inefficient gene transfer to human
airway epithelium. The human coxsackievirus and adenovirus receptor (hCAR) was detected …

Recent work suggests a link between the polycomb group protein EZH2 and mediation of
gene silencing in association with maintenance of DNA methylation. However, we show that …