Enhancers are cis-regulatory elements that enable precise spatiotemporal patterns of gene
expression during development and are notable for being able to function at large distances …

Cornelia de Lange syndrome (CdLS; MIM# 122470, 300590, 610759, 614701, 300882) is a
rare and clinically variable disorder that affects multiple organs. It is characterized by …

Background The majority of clinical genetic testing focuses almost exclusively on regions of
the genome that directly encode proteins. The important role of variants in non-coding …

Abstract Cornelia de Lange syndrome (CdLS), also known as Brachmann‐de Lange
syndrome, is a well‐described multiple malformation syndrome typically involving …

Cornelia de Lange syndrome (C d LS) is a clinically and genetically heterogeneous
developmental disorder. Clinical features include growth retardation, intellectual disability …

Gene regulation during cell-cycle progression is an intricately choreographed process,
ensuring accurate DNA replication and division. However, the translational landscape of …

Cornelia de Lange Syndrome (CdLS) is a multi-organ system birth defects disorder linked, in
at least half of cases, to heterozygous mutations in the NIPBL gene. In animals and fungi …

Over the past decade it has emerged that the cohesin protein complex, which functions in
sister chromatid cohesion, chromosome segregation, and DNA repair, also regulates gene …

Observations about the natural history of aging in Cornelia de Lange syndrome (CdLS) are
made, based on 49 patients from a multidisciplinary clinic for adolescents and adults. The …

The cohesin complex is crucial for chromosome segregation during mitosis and has recently
also been implicated in transcriptional regulation and chromatin architecture. The NIPBL …