Phelan–McDermid syndrome (PMS) is a genetic condition caused by SHANK3
haploinsufficiency and characterized by a wide range of neurodevelopmental and systemic …

In this review we discuss epigenetic disorders that result from aberrations in genes linked to
epigenetic regulation. We describe current testing methods for the detection of copy number …

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

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

Phelan-McDermid syndrome (PMS) is an infrequently described syndrome that presents
with a disturbed development, neurological and psychiatric characteristics, and sometimes …

Large structural chromosomal deletions and duplications, referred to as copy number
variants (CNVs), play a role in the pathogenesis of neurodevelopmental disorders (NDDs) …

SHANK3-related Phelan-McDermid syndrome (PMS) is caused by a loss of the distal part of
chromosome 22, including SHANK3, or by a pathological SHANK3 variant. There is an …

The 22q11. 2 deletion syndrome (22q11. 2DS) is the most common genomic disorder in
humans and is the result of a recurrent 1.5 to 2.5 Mb deletion, encompassing approximately …

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 …

Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis of
rare diseases. The publication of episignatures as effective biomarkers of certain Mendelian …