GenomicsGenome ResearchPeer-reviewed
A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease
Sumantra Chatterjee, Kameko M. Karasaki, Lauren E. Fries…·Aravinda Chakravarti
The paper identifies 31 HSCR-associated variants in RET CREs, ten with differential enhancer activity and seven affecting RET expression, revealing an extensive regulatory code modulating HSCR risk.