Many human birth defects and neurodevelopmental disorders are caused by loss-of-function
mutations in a single copy of transcription factor (TF) and chromatin regulator genes …

The gene expression programs that establish and maintain specific cell states in humans
are controlled by thousands of transcription factors, cofactors, and chromatin regulators …

During the course of cancer development, a normal cell progresses toward malignancy by
acquiring a specific series of mutations. These include mutations that activate otherwise …

Hundreds of heritable traits and diseases that are caused by germline aberrations in
ubiquitously expressed genes manifest in a remarkably limited number of cell types and …

The functions of living organisms are affected by different kinds of perturbation, both internal
and external, which in many cases have functional effects and phenotypic impact. The …

Epigenetic Gene Expression and Regulation reviews current knowledge on the heritable
molecular mechanisms that regulate gene expression, contribute to disease susceptibility …

Animal development is an elaborate process programmed by genomic regulatory
instructions. Regulatory genes encode transcription factors and signal molecules, and their …

A longstanding puzzle in human genetics is what limits the clinical manifestation of
hundreds of hereditary diseases to certain tissues, while their causal genes are expressed …

How the genome activates or silences transcriptional programmes governs organ formation.
Little is known in human embryos undermining our ability to benchmark the fidelity of stem …

The discovery of domains of preferential interaction or Topologically Associating Domains
(TADs) has provided a framework to understand the relation between enhancers and …