Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

Turner syndrome (TS) is a condition in females missing the second sex chromosome (45, X)
or parts thereof. It is considered a rare genetic condition and is associated with a wide range …

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 …

Methylation of cytosine in CpG dinucleotides and histone lysine and arginine residues is a
chromatin modification that critically contributes to the regulation of genome integrity …

Conventional genetic testing of individuals with neurodevelopmental presentations and
congenital anomalies (ND/CAs), ie, the analysis of sequence and copy number variants …

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

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

Abstract Coffin–Siris and Nicolaides–Baraitser syndromes (CSS and NCBRS) are
Mendelian disorders caused by mutations in subunits of the BAF chromatin remodeling …

Germline pathogenic variants in chromatin-modifying enzymes are a common cause of
pediatric developmental disorders. These enzymes catalyze reactions that regulate …