Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in
5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric …

A central goal of genetics is to understand the links between genetic variation and disease.
Intuitively, one might expect disease-causing variants to cluster into key pathways that drive …

In celebration of the 20th anniversary of Nature Reviews Genetics, we asked 12 leading
researchers to reflect on the key challenges and opportunities faced by the field of genetics …

Enhancers are genomic sequences that play a key role in regulating tissue-specific gene
expression levels. An increasing number of diseases are linked to impaired enhancer …

Enhancers play a central role in the spatiotemporal control of gene expression and tend to
work in a cell-type-specific manner. In addition, they are suggested to be major contributors …

Mammalian genomes have multiple enhancers spanning an ultralong distance (>
megabases) to modulate important genes, but it is unclear how these enhancers coordinate …

Enhancers are important genomic regulatory elements directing cell type-specific
transcription. They assume a key role during development and disease, and their …

Background Hirschsprung's disease, or congenital aganglionosis, is a developmental
disorder of the enteric nervous system and is the most common cause of intestinal …

Gene expression changes, the driving forces for cellular diversity in multicellular organisms,
are regulated by a diverse set of gene regulatory elements that direct transcription in specific …

Recent studies have shown that disease-susceptibility variants frequently lie in cell-type-
specific enhancer elements. To identify, interpret, and prioritize such risk variants, we must …