Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis

by Guo Cheng, Patrick Ho-Yu Chung, Edwin Kin-Wai Chan, Man-Ting So, Pak-Chung Sham, Stacey S. Cherny, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barceló
Published 2017-04-01

Gene network analysis of candidate loci for human anorectal malformations.

by Emily H M Wong, Chun-Laam Ng, Vincent Chi-Hang Lui, Man-ting So, Stacey S Cherny, Pak-Chung Sham, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barceló
Published 2013-01-01

Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.

by Long Cui, Emily Hoi-Man Wong, Guo Cheng, Manoel Firmato de Almeida, Man-Ting So, Pak-Chung Sham, Stacey S Cherny, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barceló
Published 2013-01-01

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

by Belinda K Cornes, Clara S Tang, Thomas Y Y Leon, Kenneth J W S Hui, Man-Ting So, Xiaoping Miao, Stacey S Cherny, Pak C Sham, Paul K H Tam, Maria-Merce Garcia-Barcelo
Published 2010-01-01

Cancer gene mutations in congenital pulmonary airway malformation patients

by Jacob Shujui Hsu, Ruizhong Zhang, Fanny Yeung, Clara S.M. Tang, John K.L. Wong, Man-Ting So, Huimin Xia, Pak Sham, Paul K. Tam, Miaoxin Li, Kenneth K.Y. Wong, Maria-Mercè Garcia-Barcelo
Published 2019-02-01

Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism

by Wai-Yee Lam, Clara Sze-Man Tang, Man-Ting So, Haibing Yue, Jacob Shujui Hsu, Patrick Ho-Yu Chung, John M. Nicholls, Fanny Yeung, Chun-Wai Davy Lee, Diem Ngoc Ngo, Pham Anh Hoa Nguyen, Hannah M. Mitchison, Dagan Jenkins, Christopher O'Callaghan, Maria-Mercè Garcia-Barceló, So-Lun Lee, Pak-Chung Sham, Vincent Chi-Hang Lui, Paul Kwong-Hang Tam
Published 2021-09-01

Fine mapping of the NRG1 Hirschsprung's disease locus.

by Clara Sze-Man Tang, Wai-Kiu Tang, Man-Ting So, Xiao-Ping Miao, Brian Man-Chun Leung, Benjamin Hon-Kei Yip, Thomas Yuk-Yu Leon, Elly Sau-Wai Ngan, Vincent Chi-Hang Lui, Yan Chen, Ivy Hau-Yee Chan, Patrick Ho-Yu Chung, Xue-Lai Liu, Xuan-Zhao Wu, Kenneth Kak-Yuen Wong, Pak-Chung Sham, Stacey S Cherny, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barceló
Published 2011-01-01

Correction: Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3

by Clara Sze-Man Tang, Guo Cheng, Man-Ting So, Benjamin Hon-Kei Yip, Xiao-Ping Miao, Emily Hoi-Man Wong, Elly Sau-Wai Ngan, Vincent Chi-Hang Lui, You-Qiang Song, Danny Chan, Kenneth Cheung, Zhen-Wei Yuan, Liu Lei, Patrick Ho-Yu Chung, Xue-Lai Liu, Kenneth Kak-Yuen Wong, Christian R. Marshall, Stephen Scherer, Stacey S. Cherny, Pak-Chung Sham, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barceló
Published 2012-05-01

Genome-wide copy number analysis uncovers a new HSCR gene: NRG3.

by Clara Sze-Man Tang, Guo Cheng, Man-Ting So, Benjamin Hon-Kei Yip, Xiao-Ping Miao, Emily Hoi-Man Wong, Elly Sau-Wai Ngan, Vincent Chi-Hang Lui, You-Qiang Song, Danny Chan, Kenneth Cheung, Zhen-Wei Yuan, Liu Lei, Patrick Ho-Yu Chung, Xue-Lai Liu, Kenneth Kak-Yuen Wong, Christian R Marshall, Stephen W Scherer, Stacey S Cherny, Pak-Chung Sham, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barceló
Published 2012-01-01

Correction: Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene:.

by Clara Sze-Man Tang, Guo Cheng, Man-Ting So, Benjamin Hon-Kei Yip, Xiao-Ping Miao, Emily Hoi-Man Wong, Elly Sau-Wai Ngan, Vincent Chi-Hang Lui, You-Qiang Song, Danny Chan, Kenneth Cheung, Zhen-Wei Yuan, Liu Lei, Patrick Ho-Yu Chung, Xue-Lai Liu, Kenneth Kak-Yuen Wong, Christian R. Marshall, Stephen Scherer, Stacey S. Cherny, Pak-Chung Sham, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barceló
Published 2012-05-01

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.

by Tanja Mederer, Stefanie Schmitteckert, Julia Volz, Cristina Martínez, Ralph Röth, Thomas Thumberger, Volker Eckstein, Jutta Scheuerer, Cornelia Thöni, Felix Lasitschka, Leonie Carstensen, Patrick Günther, Stefan Holland-Cunz, Robert Hofstra, Erwin Brosens, Jill A Rosenfeld, Christian P Schaaf, Duco Schriemer, Isabella Ceccherini, Marta Rusmini, Joseph Tilghman, Berta Luzón-Toro, Ana Torroglosa, Salud Borrego, Clara Sze-Man Tang, Mercè Garcia-Barceló, Paul Tam, Nagarajan Paramasivam, Melanie Bewerunge-Hudler, Carolina De La Torre, Norbert Gretz, Gudrun A Rappold, Philipp Romero, Beate Niesler
Published 2020-11-01

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

by Man-Ting So, Thomas Yuk-Yu Leon, Guo Cheng, Clara Sze-Man Tang, Xiao-Ping Miao, Belinda K Cornes, Ngoc Ngo Diem, Long Cui, Elly Sau-Wai Ngan, Vincent Chai-Hang Lui, Xuan-Zhao Wu, Bin Wang, Hualong Wang, Zheng-Wei Yuan, Liu-Ming Huang, Long Li, Huimin Xia, Deli Zhu, Juncheng Liu, Thanh Liem Nguyen, Ivy Hau-Yee Chan, Patrick Ho-Yu Chung, Xue-Lai Liu, Ruizhong Zhang, Kenneth Kak-Yuen Wong, Pak-Chung Sham, Stacey S Cherny, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barcelo
Published 2011-01-01

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.

by Romy van de Putte, Charlotte H W Wijers, Heiko Reutter, Sita H Vermeulen, Carlo L M Marcelis, Erwin Brosens, Paul M A Broens, Markus Homberg, Michael Ludwig, Ekkehart Jenetzky, Nadine Zwink, Cornelius E J Sloots, Annelies de Klein, Alice S Brooks, Robert M W Hofstra, Sophie A C Holsink, Loes F M van der Zanden, Tessel E Galesloot, Paul Kwong-Hang Tam, Marloes Steehouwer, Rocio Acuna-Hidalgo, Maartje van de Vorst, Lambertus A Kiemeney, Maria-Mercè Garcia-Barceló, Ivo de Blaauw, Han G Brunner, Nel Roeleveld, Iris A L M van Rooij
Published 2019-01-01