Artificial intelligence-based approaches for the detection and prioritization of genomic mutations in congenital surgical diseases

por Lin, Qiongfen, Tam, Paul Kwong-Hang, Tang, Clara Sze-Man
Publicado 2023

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

por Karim, Anwarul, Tang, Clara Sze-Man, Tam, Paul Kwong-Hang
Publicado 2021

Roles of Enteric Neural Stem Cell Niche and Enteric Nervous System Development in Hirschsprung Disease

por Ji, Yue, Tam, Paul Kwong-Hang, Tang, Clara Sze-Man
Publicado 2021

Current Understanding in the Clinical Characteristics and Molecular Mechanisms in Different Subtypes of Biliary Atresia

por He, Lin, Chung, Patrick Ho Yu, Lui, Vincent Chi Hang, Tang, Clara Sze Man, Tam, Paul Kwong Hang
Publicado 2022

Assessing the safety of lipid-modifying medications among Chinese adolescents: a drug-target Mendelian randomization study

por Luo, Shan, Lam, Hugh Simon, Chan, Yap Hang, Tang, Clara Sze Man, He, Baoting, Kwok, Man Ki, Leung, Gabriel M., Schooling, C Mary, Au Yeung, Shiu Lun
Publicado 2023

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

Isogenic Human-Induced Pluripotent Stem-Cell-Derived Cardiomyocytes Reveal Activation of Wnt Signaling Pathways Underlying Intrinsic Cardiac Abnormalities in Rett Syndrome

por Ng, Kwong-Man, Ding, Qianqian, Tse, Yiu-Lam, Chou, Oscar Hou-In, Lai, Wing-Hon, Au, Ka-Wing, Lau, Yee-Man, Ji, Yue, Siu, Chung-Wah, Tang, Clara Sze-Man, Colman, Alan, Tsang, Suk-Ying, Tse, Hung-Fat
Publicado 2022

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

Deviation from baseline mutation burden provides powerful and robust rare-variants association test for complex diseases

por Jiang, Lin, Jiang, Hui, Dai, Sheng, Chen, Ying, Song, Youqiang, Tang, Clara Sze-Man, Pang, Shirley Yin-Yu, Ho, Shu-Leong, Wang, Binbin, Garcia-Barcelo, Maria-Mercedes, Tam, Paul Kwong-Hang, Cherny, Stacey S, Li, Mulin Jun, Sham, Pak Chung, Li, Miaoxin
Publicado 2021

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

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

Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population

por Yu, Mullin Ho Chung, Chan, Marcus Chun Yin, Chung, Claudia Ching Yan, Li, Andrew Wang Tat, Yip, Chara Yin Wa, Mak, Christopher Chun Yu, Chau, Jeffrey Fong Ting, Lee, Mianne, Fung, Jasmine Lee Fong, Tsang, Mandy Ho Yin, Chan, Joshua Chun Ki, Wong, Wilfred Hing Sang, Yang, Jing, Chui, William Chun Ming, Chung, Patrick Ho Yu, Yang, Wanling, Lee, So Lun, Chan, Godfrey Chi Fung, Tam, Paul Kwong Hang, Lau, Yu Lung, Tang, Clara Sze Man, Yeung, Kit San, Chung, Brian Hon Yin
Publicado 2021

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

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese

por Chau, Jeffrey Fong Ting, Yu, Mullin Ho Chung, Chui, Martin Man Chun, Yeung, Cyrus Chun Wing, Kwok, Aaron Wing Cheung, Zhuang, Xuehan, Lee, Ryan, Fung, Jasmine Lee Fong, Lee, Mianne, Mak, Christopher Chun Yu, Ng, Nicole Ying Ting, Chung, Claudia Ching Yan, Chan, Marcus Chun Yin, Tsang, Mandy Ho Yin, Chan, Joshua Chun Ki, Chan, Kelvin Yuen Kwong, Kan, Anita Sik Yau, Chung, Patrick Ho Yu, Yang, Wanling, Lee, So Lun, Chan, Godfrey Chi Fung, Tam, Paul Kwong Hang, Lau, Yu Lung, Yeung, Kit San, Chung, Brian Hon Yin, Tang, Clara Sze Man
Publicado 2022

A polygenic risk score improves risk stratification of coronary artery disease: a large-scale prospective Chinese cohort study

por Lu, Xiangfeng, Liu, Zhongying, Cui, Qingmei, Liu, Fangchao, Li, Jianxin, Niu, Xiaoge, Shen, Chong, Hu, Dongsheng, Huang, Keyong, Chen, Jichun, Xing, Xiaolong, Zhao, Yingxin, Lu, Fanghong, Liu, Xiaoqing, Cao, Jie, Chen, Shufeng, Ma, Hongxia, Yu, Ling, Wu, Xianping, Wu, Xigui, Li, Ying, Zhang, Huan, Mo, Xingbo, Zhao, Liancheng, Huang, Jianfeng, Wang, Laiyuan, Wen, Wanqing, Shu, Xiao-Ou, Takeuchi, Fumihiko, Koh, Woon-Puay, Tai, E Shyong, Cheng, Ching-Yu, Wong, Tien yin, Chang, Xuling, Chan, Mark Yan-Yee, Gao, Wei, Zheng, Hong, Chen, Kexin, Chen, Jing, He, Jiang, Tang, Clara Sze-man, Lam, Karen Siu Ling, Tse, Hung-fat, Cheung, Chloe Yu Yan, Takahashi, Atsushi, Kubo, Michiaki, Kato, Norihiro, Terao, Chikashi, Kamatani, Yoichiro, Sham, Pak Chung, Heng, Chew-Kiat, Hu, Zhibin, Chen, Y Eugene, Wu, Tangchun, Shen, Hongbing, Willer, Cristen J, Gu, Dongfeng
Publicado 2022

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants contributing to lipid levels and coronary artery disease

por Lu, Xiangfeng, Peloso, Gina M, Liu, Dajiang J., Wu, Ying, Zhang, He, Zhou, Wei, Li, Jun, Tang, Clara Sze-man, Dorajoo, Rajkumar, Li, Huaixing, Long, Jirong, Guo, Xiuqing, Xu, Ming, Spracklen, Cassandra N., Chen, Yang, Liu, Xuezhen, Zhang, Yan, Khor, Chiea Chuen, Liu, Jianjun, Sun, Liang, Wang, Laiyuan, Gao, Yu-Tang, Hu, Yao, Yu, Kuai, Wang, Yiqin, Cheung, Chloe Yu Yan, Wang, Feijie, Huang, Jianfeng, Fan, Qiao, Cai, Qiuyin, Chen, Shufeng, Shi, Jinxiu, Yang, Xueli, Zhao, Wanting, Sheu, Wayne H.-H., Cherny, Stacey Shawn, He, Meian, Feranil, Alan B., Adair, Linda S., Gordon-Larsen, Penny, Du, Shufa, Varma, Rohit, da Chen, Yii-Der I, Shu, XiaoOu, Lam, Karen Siu Ling, Wong, Tien Yin, Ganesh, Santhi K., Mo, Zengnan, Hveem, Kristian, Fritsche, Lars, Nielsen, Jonas Bille, Tse, Hung-fat, Huo, Yong, Cheng, Ching-Yu, Chen, Y. Eugene, Zheng, Wei, Tai, E Shyong, Gao, Wei, Lin, Xu, Huang, Wei, Abecasis, Goncalo, Consortium, GLGC, Kathiresan, Sekar, Mohlke, Karen L., Wu, Tangchun, Sham, Pak Chung, Gu, Dongfeng, Willer, Cristen J
Publicado 2017