RAD21 (also known as KIAA0078, NXP1, HR21, Mcd1, Scc1, and hereafter called RAD21),
an essential gene, encodes a DNA double-strand break (DSB) repair protein that is …

Cohesin is a complex conserved in evolution that entraps DNA. Originally identified for its
role in sister chromatid cohesion, it is currently considered a key player in 3D genome …

Chronic pain is highly prevalent worldwide and represents a significant socioeconomic and
public health burden. Several aspects of chronic pain, for example back pain and a severity …

Enhancers are a class of regulatory elements essential for precise spatio-temporal control of
gene expression during development and in terminally differentiated cells. This review …

The emergence of novel sequencing technologies has greatly improved the identification of
structural variation, revealing that a human genome harbors tens of thousands of structural …

Cohesin is a ring-shaped multiprotein complex that is crucial for 3D genome organization
and transcriptional regulation during differentiation and development. It also confers sister …

In clinical exome sequencing (cES), the American College of Medical Genetics and
Genomics recommends limiting variant interpretation to established human-disease genes …

Purpose Defects in the cohesin pathway are associated with cohesinopathies, notably
Cornelia de Lange syndrome (CdLS). We aimed to delineate pathogenic variants in known …

Research demonstrates the important role of genetic factors in attention-deficit/hyperactivity
disorder (ADHD). DNA sequencing of families provides a powerful approach for identifying …

Primary ovarian insufficiency (POI) affects~ 1–3, 7% of women under forty and is a public
health problem. Most causes are unknown, but an increasing number of genetic causes …