Publications:

A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease.

Genome Research

Chatterjee, Sumantra S; Karasaki, Kameko M KM; Fries, Lauren E LE; Kapoor, Ashish A; Chakravarti, Aravinda A

Publication Date: 2021-11-15

Variant appearance in text: rs752978

PubMed Link: 34782358

Variant Present in the following documents:

• 2199.pdf

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Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of Hirschsprung disease.

Aging

Wang, Yang Y; Jiang, Qian Q; Cai, Hao H; Xu, Ze Z; Wu, Wenjie W; Gu, Beilin B; Li, Long L; Cai, Wei W

Publication Date: 2020-03-06

Variant appearance in text: rs752978

PubMed Link: 32139661

Variant Present in the following documents:

• Main text
• aging-12-102891.pdf

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Identifying candidate Hirschsprung disease-associated RET variants.

American Journal Of Human Genetics

Burzynski, Grzegorz M GM; Nolte, Ilja M IM; Bronda, Agnes A; Bos, Krista K KK; Osinga, Jan J; Plaza Menacho, Ivan I; Twigt, Bas B; Maas, Saskia S; Brooks, Alice S AS; Verheij, Joke B G M JB; Buys, Charles H C M CH; Hofstra, Robert M W RM

Publication Date: 2005-05

Variant appearance in text: rs752978

PubMed Link: 15759212

Variant Present in the following documents:

• Main text

View BVdb publication page