Hirschsprung disease (HSCR) is the leading cause of neonatal functional intestinal
obstruction. It is a rare congenital disease with an incidence of one in 3,500–5,000 live …

Hirschsprung's disease (HSCR) is a classical model of enteric neuropathy, occurring in
approximately 2–2.8 in 10,000 newborns. It is the commonest form of congenital bowel …

Most of the enteric nervous system derives from the “vagal” neural crest, lying at the level of
somites 1–7, which invades the digestive tract rostro-caudally from the foregut to the hindgut …

Background & Aims Hirschsprung disease, or congenital aganglionosis, is believed to be
oligogenic—that is, caused by multiple genetic factors. We performed whole-genome …

Transcriptome-wide association study (TWAS) is an important integrative method for
identifying genes that are causally associated with phenotypes. A key step of TWAS involves …

The development of the enteric nervous system (ENS) is highly modulated by the
synchronized interaction between the enteric neural crest cells (ENCCs) and the neural …

Hirschsprung disease (HSCR) is a complex genetic disease characterized by absence of
ganglia in the intestine. HSCR etiology can be explained by a unique combination of genetic …

Hirschsprung disease (HSCR) is a rare congenital disorder caused by an incorrect enteric
nervous system development due to a failure in migration, proliferation, differentiation and/or …

Objective Pediatric patients have different diseases and outcomes than adults; however,
existing phecodes do not capture the distinctive pediatric spectrum of disease. We aim to …

Disruptions in gene regulatory networks (GRNs), driven by multiple deleterious variants,
potentially underlie complex traits and diseases. Hirschsprung disease (HSCR), a …