Publications:

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Association of rs2435357 and rs2506030 polymorphisms in RET with susceptibility to hirschsprung disease: A systematic review and meta-analysis.

Frontiers In Pediatrics

Mu, Jianhua J; Zhang, Yuxi Y; Liao, Guoying G; Li, Xinxin X; Luo, Yinyan Y; Huang, Zhaorong Z; Luo, Caiyun C; Wu, Kai K

Publication Date: 2022

Variant appearance in text: rs2506004

PubMed Link: 36324815

Variant Present in the following documents:

• fped-10-1030933.pdf

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The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.

International Journal Of Molecular Sciences

MacKenzie, Katherine C KC; Garritsen, Rhiana R; Chauhan, Rajendra K RK; Sribudiani, Yunia Y; de Graaf, Bianca M BM; Rugenbrink, Tim T; Brouwer, Rutger R; van Ijcken, Wilfred F J WFJ; de Blaauw, Ivo I; Brooks, Alice S AS; Sloots, Cornelius E J CEJ; Meeuwsen, Conny J H M CJHM; Wijnen, René M RM; Newgreen, Donald F DF; Burns, Alan J AJ; Hofstra, Robert M W RMW; Alves, Maria M MM; Brosens, Erwin E

Publication Date: 2021-11-16

Variant appearance in text: rs2506004

PubMed Link: 34830235

Variant Present in the following documents:

• Main text
• ijms-22-12354.pdf

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Associations of CYP2B6 genetic polymorphisms with Hirschsprung's disease in a southern Chinese population.

Journal Of Clinical Laboratory Analysis

Liu, Yanqing Y; Lan, Chaoting C; Li, Bingxiao B; Wang, Ning N; Zuo, Xiaoyu X; Huang, Lihua L; Wu, Yuxin Y; Zhu, Yun Y

Publication Date: 2021-12

Variant appearance in text: rs2506004

PubMed Link: 34752660

Variant Present in the following documents:

• Main text
• JCLA-35-e24074.pdf

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Associations of CYP2B6 genetic polymorphisms with Hirschsprung's disease in a southern Chinese population.

Journal Of Clinical Laboratory Analysis

Liu, Yanqing Y; Lan, Chaoting C; Li, Bingxiao B; Wang, Ning N; Zuo, Xiaoyu X; Huang, Lihua L; Wu, Yuxin Y; Zhu, Yun Y

Publication Date: 2021-12

Variant appearance in text: rs2506004

PubMed Link: 34752660

Variant Present in the following documents:

• Main text
• JCLA-35-e24074.pdf

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The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications.

Frontiers In Pediatrics

Karim, Anwarul A; Tang, Clara Sze-Man CS; Tam, Paul Kwong-Hang PK

Publication Date: 2021

Variant appearance in text: rs2506004

PubMed Link: 34422713

Variant Present in the following documents:

• Main text
• fped-09-638093.pdf

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Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution.

Nature Communications

Kircher, Martin M; Xiong, Chenling C; Martin, Beth B; Schubach, Max M; Inoue, Fumitaka F; Bell, Robert J A RJA; Costello, Joseph F JF; Shendure, Jay J; Ahituv, Nadav N

Publication Date: 2019-08-08

Variant appearance in text: rs2506004

PubMed Link: 31395865

Variant Present in the following documents:

• 41467_2019_11526_MOESM1_ESM.pdf

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Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patients.

International Journal Of Clinical And Experimental Pathology

Zhang, Zhen Z; Jiang, Qian Q; Li, Qi Q; Cheng, Wei W; Qiao, Guoliang G; Xiao, Ping P; Gan, Liang L; Su, Lin L; Miao, Chunyue C; Li, Long L

Publication Date: 2015

Variant appearance in text: rs2506004

PubMed Link: 26191260

Variant Present in the following documents:

• Main text

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RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease.

Plos One

Vaclavikova, Eliska E; Dvorakova, Sarka S; Skaba, Richard R; Pos, Lucie L; Sykorova, Vlasta V; Halkova, Tereza T; Vcelak, Josef J; Bendlova, Bela B

Publication Date: 2014

Variant appearance in text: rs2506004

PubMed Link: 24897126

Variant Present in the following documents:

• Main text
• pone.0098957.pdf

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RET and PHOX2B genetic polymorphisms and Hirschsprung's disease susceptibility: a meta-analysis.

Plos One

Liang, Chun-mei CM; Ji, Dong-mei DM; Yuan, Xu X; Ren, Ling-ling LL; Shen, Juan J; Zhang, Hai-yan HY

Publication Date: 2014

Variant appearance in text: rs2506004

PubMed Link: 24651702

Variant Present in the following documents:

• Main text
• pone.0090091.pdf

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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: rs2506004

PubMed Link: 16816022

Variant Present in the following documents:

• Main text

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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: rs2506004

PubMed Link: 15759212

Variant Present in the following documents:

• Main text

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