Genomic DNA is folded into loops and topologically associating domains (TADs), which
serve important structural and regulatory roles. It has been proposed that these genomic …

Abstract Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is
characterized by intellectual disability, well-defined facial features, upper limb anomalies …

Fertilization triggers assembly of higher‐order chromatin structure from a condensed
maternal and a naïve paternal genome to generate a totipotent embryo. Chromatin loops …

There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …

Mutations in whole organisms are powerful ways of interrogating gene function in a realistic
context. We describe a program, the Sanger Institute Mouse Genetics Project, that provides …

Increases in the life expectancy of people with Intellectual Disability have followed similar
trends to those found in the general population. With the exception of people with severe …

Acute myeloid leukemia (AML) comprises a heterogeneous group of leukemias frequently
defined by recurrent cytogenetic abnormalities, including rearrangements involving the core …

The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …

The cohesin complex is a major constituent of interphase and mitotic chromosomes. Apart
from its role in mediating sister chromatid cohesion, it is also important for DNA double …

Cohesin complexes mediate sister-chromatid cohesion in dividing cells but may also
contribute to gene regulation in postmitotic cells. How cohesin regulates gene expression is …