Resident Physician in Anatomic and Clinical Pathology
Hospital of the University of Pennsylvania
Gene-environment interactions in Hirschsprung Disease, a model oligogenic disease
BSc; College of Agriculture and Life Sciences
Lake, J. I., Avetisyan, M., Zimmermann, A. G. & Heuckeroth, R. O. Neural crest requires Impdh2 for development of the enteric nervous system, great vessels, and craniofacial skeleton. Developmental biology 409, 152-165 (2016). DOI 10.1016/j.ydbio.2015.11.004
Lake, J. I., Tusheva, O. A., Graham, B. L. & Heuckeroth, R. O. Hirschsprung-like disease is exacerbated by reduced de novo GMP synthesis. The Journal of Clinical Investigation 123, 4875–4887 (2013). DOI 10.1172/JCI69781
Highlighted in Nature Reviews Gastroenterology and Hepatology: Role for nongenetic factors in the development of Hirschsprung disease?
Lake, J. I. & Heuckeroth, R. O. Enteric nervous system development: migration, differentiation, and disease. Am. J. Physiol. Gastrointest. Liver Physiol. 305, G1–G24 (2013). DOI 10.1152/ajpgi.00452.2012