The 22q11. 2 deletion syndrome is a multisystemic disorder characterized by a marked
variability of phenotypic features, making the diagnosis challenging for clinicians. The wide …

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 …

Purpose HNRNPU haploinsufficiency is associated with developmental and epileptic
encephalopathy 54. This neurodevelopmental disorder is characterized by developmental …

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

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

Clark–Baraitser syndrome is a rare autosomal dominant intellectual disability syndrome
caused by pathogenic variants in the TRIP12 (Thyroid Hormone Receptor Interactor 12) …

The epigenome bridges environmental factors and the genome, fine-tuning the process of
gene transcription. Physiological programs, including the development, maturation and …

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 …

Background Recent findings from studies of mouse models of Mendelian disorders of
epigenetic machinery strongly support the potential for postnatal therapies to improve …