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 …

Over the past decade high‐throughput DNA sequencing approaches, namely whole exome
and whole genome sequencing became a standard procedure in Mendelian disease …

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 …

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

Background Since the onset of the SARS-CoV-2 pandemic, most clinical testing has focused
on RT-PCR. Host epigenome manipulation post coronavirus infection,–suggests that DNA …

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

Progeroid disorders make up a heterogeneous group of very rare hereditary diseases
characterized by clinical signs that often mimic physiological aging in a premature manner …

Background Dystonia is a clinically and genetically heterogeneous movement disorder
characterized by sustained or intermittent muscle contractions causing abnormal, often …

Mendelian neurodevelopmental disorders customarily present with complex and
overlapping symptoms, complicating the clinical diagnosis. Individuals with a growing …