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

Summary Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting
from a terminal autosomal deletion. This condition is molecularly and clinically …

Germline pathogenic variants in DNMT3A were recently described in patients with
overgrowth, obesity, behavioral, and learning difficulties (D NMT3A O vergrowth S …

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by distinctive
physical features, developmental delay, cognitive impairment, and a typical behavioral …

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

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

SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that
belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA …

Purpose Chromatinopathies include more than 50 disorders caused by disease-causing
variants of various components of chromatin structure and function. Many of these disorders …

Congenital hyperinsulinism is characterised by the inappropriate release of insulin during
hypoglycaemia. This potentially life-threatening disorder can occur in isolation, or present as …

Common variable immunodeficiency (CVID), the most prevalent symptomatic primary
immunodeficiency, displays impaired terminal B-cell differentiation and defective antibody …