Cost effective assay choice for rare disease study designs

por Campbell, Desmond D, Porsch, Robert M, Cherny, Stacey S, Capra, Valeria, Merello, Elisa, De Marco, Patrizia, Sham, Pak C, Garcia-Barceló, Maria-Mercè
Publicado 2015

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

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

Gene Network Analysis of Candidate Loci for Human Anorectal Malformations

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

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

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

Haplotype Analysis Reveals a Possible Founder Effect of RET Mutation R114H for Hirschsprung's Disease in the Chinese Population

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

Sacral agenesis: a pilot whole exome sequencing and copy number study

por Porsch, Robert M., Merello, Elisa, De Marco, Patrizia, Cheng, Guo, Rodriguez, Laura, So, Manting, Sham, Pak C., Tam, Paul K., Capra, Valeria, Cherny, Stacey S., Garcia-Barcelo, Maria-Mercè, Campbell, Desmond D.
Publicado 2016

Whole genome sequencing reveals epistasis effects within RET for Hirschsprung disease

por Wang, Yanbing, Mak, Timothy Shin Heng, Dattani, Saloni, Garcia-Barcelo, Maria-Merce, Fu, Alexander Xi, Yip, Kevin Y., Ngan, Elly Sau-Wai, Tam, Paul Kwang-Hang, Tang, Clara Sze-Man, Sham, Pak Chung
Publicado 2022

A random forest-based framework for genotyping and accuracy assessment of copy number variations

por Zhuang, Xuehan, Ye, Rui, So, Man-Ting, Lam, Wai-Yee, Karim, Anwarul, Yu, Michelle, Ngo, Ngoc Diem, Cherny, Stacey S, Tam, Paul Kwong-Hang, Garcia-Barcelo, Maria-Mercè, Tang, Clara Sze-man, Sham, Pak Chung
Publicado 2020

Cancer gene mutations in congenital pulmonary airway malformation patients

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

Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism

por Liu, Wei, Wong, John KL, He, Qiuming, Wong, Emily HM, Tang, Clara SM, Zhang, Ruizhong, So, Man-ting, Wong, Kenneth KY, Nicholls, John, Cherny, Stacey S, Sham, Pak C, Tam, Paul K, Garcia-Barcelo, Maria-Mercè, Xia, Huimin
Publicado 2015

Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes

por Wong, John K. L., Campbell, Desmond, Ngo, Ngoc Diem, Yeung, Fanny, Cheng, Guo, Tang, Clara S. M., Chung, Patrick H. Y., Tran, Ngoc Son, So, Man-ting, Cherny, Stacey S., Sham, Pak C., Tam, Paul K., Garcia-Barcelo, Maria-Mercè
Publicado 2016

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors

por Tang, Clara Sze Man, Mononen, Mimmi, Lam, Wai-Yee, Jin, Sheng Chih, Zhuang, Xuehan, Garcia-Barcelo, Maria-Mercè, Lin, Qiongfen, Yang, Yujia, Sahara, Makoto, Eroglu, Elif, Chien, Kenneth R., Hong, Haifa, Tam, Paul Kwong Hang, Gruber, Peter J.
Publicado 2022

Whole-genome analysis of noncoding genetic variations identifies multiscale regulatory element perturbations associated with Hirschsprung disease

por Fu, Alexander Xi, Lui, Kathy Nga-Chu, Tang, Clara Sze-Man, Ng, Ray Kit, Lai, Frank Pui-Ling, Lau, Sin-Ting, Li, Zhixin, Garcia-Barcelo, Maria-Mercè, Sham, Pak-Chung, Tam, Paul Kwong-Hang, Ngan, Elly Sau-Wai, Yip, Kevin Y.
Publicado 2020

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease

por Luzón-Toro, Berta, Gui, Hongsheng, Ruiz-Ferrer, Macarena, Sze-Man Tang, Clara, Fernández, Raquel M., Sham, Pak-Chung, Torroglosa, Ana, Kwong-Hang Tam, Paul, Espino-Paisán, Laura, Cherny, Stacey S., Bleda, Marta, Enguix-Riego, María del Valle, Dopazo, Joaquín, Antiñolo, Guillermo, García-Barceló, María-Mercé, Borrego, Salud
Publicado 2015

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

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

Fine Mapping of the NRG1 Hirschsprung's Disease Locus

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

Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development

por Kuil, Laura E., MacKenzie, Katherine C., Tang, Clara S., Windster, Jonathan D., Le, Thuy Linh, Karim, Anwarul, de Graaf, Bianca M., van der Helm, Robert, van Bever, Yolande, Sloots, Cornelius E. J., Meeussen, Conny, Tibboel, Dick, de Klein, Annelies, Wijnen, René M. H., Amiel, Jeanne, Lyonnet, Stanislas, Garcia-Barcelo, Maria-Mercè, Tam, Paul K. H., Alves, Maria M., Brooks, Alice S., Hofstra, Robert M. W., Brosens, Erwin
Publicado 2021

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

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

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

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

RET Mutational Spectrum in Hirschsprung Disease: Evaluation of 601 Chinese Patients

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