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: rs2506021

PubMed Link: 34782358

Variant Present in the following documents:

• Main text
• 2199.pdf

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Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.

Plos One

Cornes, Belinda K BK; Tang, Clara S CS; Leon, Thomas Y Y TY; Hui, Kenneth J W S KJ; So, Man-Ting MT; Miao, Xiaoping X; Cherny, Stacey S SS; Sham, Pak C PC; Tam, Paul K H PK; Garcia-Barcelo, Maria-Merce MM

Publication Date: 2010-06-02

Variant appearance in text: rs2506021

PubMed Link: 20532249

Variant Present in the following documents:

• Main text
• pone.0010918.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: rs2506021

PubMed Link: 15759212

Variant Present in the following documents:

• Main text

View BVdb publication page