Publications:

---

Susceptible loci associated with autoimmune disease as potential biomarkers for checkpoint inhibitor-induced immune-related adverse events.

Esmo Open

Hoefsmit, Esmée P EP; Rozeman, Elisa A EA; Haanen, John B A G JBAG; Blank, Christian U CU

Publication Date: 2019

Variant appearance in text: rs2435362

PubMed Link: 31423333

Variant Present in the following documents:

• esmoopen-2018-000472supp001.pdf

View BVdb publication page

---

DeFine: deep convolutional neural networks accurately quantify intensities of transcription factor-DNA binding and facilitate evaluation of functional non-coding variants.

Nucleic Acids Research

Wang, Meng M; Tai, Cheng C; E, Weinan W; Wei, Liping L

Publication Date: 2018-06-20

Variant appearance in text: rs2435362

PubMed Link: 29617928

Variant Present in the following documents:

• gky215_supplemental_files.pdf

View BVdb publication page

---

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

American Journal Of Human Genetics

Emison, Eileen Sproat ES; Garcia-Barcelo, Merce M; Grice, Elizabeth A EA; Lantieri, Francesca F; Amiel, Jeanne J; Burzynski, Grzegorz G; Fernandez, Raquel M RM; Hao, Li L; Kashuk, Carl C; West, Kristen K; Miao, Xiaoping X; Tam, Paul K H PK; Griseri, Paola P; Ceccherini, Isabella I; Pelet, Anna A; Jannot, Anne-Sophie AS; de Pontual, Loic L; Henrion-Caude, Alexandra A; Lyonnet, Stanislas S; Verheij, Joke B G M JB; Hofstra, Robert M W RM; Antiñolo, Guillermo G; Borrego, Salud S; McCallion, Andrew S AS; Chakravarti, Aravinda A

Publication Date: 2010-07-09

Variant appearance in text: rs2435362

PubMed Link: 20598273

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs2435362

PubMed Link: 20532249

Variant Present in the following documents:

• Main text
• pone.0010918.pdf

View BVdb publication page

---

A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.

Journal Of Medical Genetics

Brooks, A S AS; Leegwater, P A PA; Burzynski, G M GM; Willems, P J PJ; de Graaf, B B; van Langen, I I; Heutink, P P; Oostra, B A BA; Hofstra, R M W RM; Bertoli-Avella, A M AM

Publication Date: 2006-07

Variant appearance in text: rs2435362

PubMed Link: 16816022

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs2435362

PubMed Link: 15759212

Variant Present in the following documents:

• Main text

View BVdb publication page

---