Publications:

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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: rs16879552

PubMed Link: 34422713

Variant Present in the following documents:

• Main text
• fped-09-638093.pdf

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The advances of genetics research on Hirschsprung's disease.

Pediatric Investigation

Ke, Juntao J; Zhu, Ying Y; Miao, Xiaoping X

Publication Date: 2018-09

Variant appearance in text: rs16879552

PubMed Link: 32851260

Variant Present in the following documents:

• Main text
• PED4-2-189.pdf

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Association of NRG1 and AUTS2 genetic polymorphisms with Hirschsprung disease in a South Chinese population.

Journal Of Cellular And Molecular Medicine

Zhang, Yan Y; Xie, Xiaoli X; Zeng, Jixiao J; Wu, Qiang Q; Zhang, Ruizhong R; Zhu, Deli D; Xia, Huimin H

Publication Date: 2018-04

Variant appearance in text: rs16879552

PubMed Link: 29377512

Variant Present in the following documents:

• Main text
• JCMM-22-2190.pdf

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Effects of NRG1 Polymorphisms on Hirschsprung's Disease Susceptibility: A Meta-analysis.

Scientific Reports

Jiang, Meng M; Li, Changli C; Cao, Guoqing G; Yang, Dehua D; Zhang, Xi X; Yang, Li L; Li, Shuai S; Tang, Shao-Tao ST

Publication Date: 2017-08-30

Variant appearance in text: rs16879552

PubMed Link: 28855726

Variant Present in the following documents:

• Main text
• 41598_2017_Article_10477.pdf

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Effects of RET, NRG1 and NRG3 Polymorphisms in a Chinese Population with Hirschsprung Disease.

Scientific Reports

Yang, Dehua D; Yang, Jun J; Li, Shuai S; Jiang, Meng M; Cao, Guoqing G; Yang, Li L; Zhang, Xi X; Zhou, Ying Y; Li, Kang K; Tang, Shao-Tao ST

Publication Date: 2017-03-03

Variant appearance in text: rs16879552

PubMed Link: 28256518

Variant Present in the following documents:

• Main text
• srep43222.pdf

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Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

Human Molecular Genetics

Tang, Clara Sze-Man CS; Gui, Hongsheng H; Kapoor, Ashish A; Kim, Jeong-Hyun JH; Luzón-Toro, Berta B; Pelet, Anna A; Burzynski, Grzegorz G; Lantieri, Francesca F; So, Man-Ting MT; Berrios, Courtney C; Shin, Hyoung Doo HD; Fernández, Raquel M RM; Le, Thuy-Linh TL; Verheij, Joke B G M JB; Matera, Ivana I; Cherny, Stacey S SS; Nandakumar, Priyanka P; Cheong, Hyun Sub HS; Antiñolo, Guillermo G; Amiel, Jeanne J; Seo, Jeong-Meen JM; Kim, Dae-Yeon DY; Oh, Jung-Tak JT; Lyonnet, Stanislas S; Borrego, Salud S; Ceccherini, Isabella I; Hofstra, Robert M W RM; Chakravarti, Aravinda A; Kim, Hyun-Young HY; Sham, Pak Chung PC; Tam, Paul K H PK; Garcia-Barceló, Maria-Mercè MM

Publication Date: 2016-12-01

Variant appearance in text: rs16879552

PubMed Link: 27702942

Variant Present in the following documents:

• Main text

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Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms.

Human Molecular Genetics

Kapoor, Ashish A; Jiang, Qian Q; Chatterjee, Sumantra S; Chakraborty, Prakash P; Sosa, Maria X MX; Berrios, Courtney C; Chakravarti, Aravinda A

Publication Date: 2015-05-15

Variant appearance in text: rs16879552

PubMed Link: 25666438

Variant Present in the following documents:

• Main text

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Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease.

Journal Of Pediatric Surgery

Gunadi, ; Kapoor, Ashish A; Ling, Albee Yun AY; Rochadi, ; Makhmudi, Akhmad A; Herini, Elisabeth Siti ES; Sosa, Maria X MX; Chatterjee, Sumantra S; Chakravarti, Aravinda A

Publication Date: 2014-11

Variant appearance in text: rs16879552

PubMed Link: 25475805

Variant Present in the following documents:

• Main text

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A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.

Plos One

Kim, Jeong-Hyun JH; Cheong, Hyun Sub HS; Sul, Jae Hoon JH; Seo, Jeong-Meen JM; Kim, Dae-Yeon DY; Oh, Jung-Tak JT; Park, Kwi-Won KW; Kim, Hyun-Young HY; Jung, Soo-Min SM; Jung, Kyuwhan K; Cho, Min Jeng MJ; Bae, Joon Seol JS; Shin, Hyoung Doo HD

Publication Date: 2014

Variant appearance in text: rs16879552

PubMed Link: 25310821

Variant Present in the following documents:

• Main text
• pone.0110292.pdf

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Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients.

Plos One

Luzón-Toro, Berta B; Torroglosa, Ana A; Núñez-Torres, Rocío R; Enguix-Riego, María Valle MV; Fernández, Raquel María RM; de Agustín, Juan Carlos JC; Antiñolo, Guillermo G; Borrego, Salud S

Publication Date: 2012

Variant appearance in text: rs16879552

PubMed Link: 22574178

Variant Present in the following documents:

• Main text
• pone.0036524.pdf

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Fine mapping of the NRG1 Hirschsprung's disease locus.

Plos One

Tang, Clara Sze-Man CS; Tang, Wai-Kiu WK; So, Man-Ting MT; Miao, Xiao-Ping XP; Leung, Brian Man-Chun BM; Yip, Benjamin Hon-Kei BH; Leon, Thomas Yuk-Yu TY; Ngan, Elly Sau-Wai ES; Lui, Vincent Chi-Hang VC; Chen, Yan Y; Chan, Ivy Hau-Yee IH; Chung, Patrick Ho-Yu PH; Liu, Xue-Lai XL; Wu, Xuan-Zhao XZ; Wong, Kenneth Kak-Yuen KK; Sham, Pak-Chung PC; Cherny, Stacey S SS; Tam, Paul Kwong-Hang PK; Garcia-Barceló, Maria-Mercè MM

Publication Date: 2011-01-20

Variant appearance in text: rs16879552

PubMed Link: 21283760

Variant Present in the following documents:

• Main text
• pone.0016181.pdf

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Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Garcia-Barcelo, Maria-Mercè MM; Tang, Clara Sze-Man CS; Ngan, Elly Sau-Wai ES; Lui, Vincent Chi-Hang VC; Chen, Yan Y; So, Man-Ting MT; Leon, Thomas Yuk-Yu TY; Miao, Xiao-Ping XP; Shum, Cathy Ka-Yee CK; Liu, Feng-Qin FQ; Yeung, Ming-Yiu MY; Yuan, Zhen-Wei ZW; Guo, Wei-Hong WH; Liu, Lei L; Sun, Xiao-Bing XB; Huang, Liu-Ming LM; Tou, Jin-Fa JF; Song, You-Qiang YQ; Chan, Danny D; Cheung, Kenneth M C KM; Wong, Kenneth Kak-Yuen KK; Cherny, Stacey S SS; Sham, Pak-Chung PC; Tam, Paul Kwong-Hang PK

Publication Date: 2009-02-24

Variant appearance in text: rs16879552

PubMed Link: 19196962

Variant Present in the following documents:

• Main text

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