Actionable secondary findings from whole-genome sequencing of 954 East Asians
Tang, Clara Sze-man, Dattani, Saloni, So, Man-ting, Cherny, Stacey S., Tam, Paul K. H., Sham, Pak C., Garcia-Barcelo, Maria-Mercè
Published in Human genetics (01.01.2018)
Published in Human genetics (01.01.2018)
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Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model
Alves, Maria M., Sribudiani, Yunia, Brouwer, Rutger W.W., Amiel, Jeanne, Antiñolo, Guillermo, Borrego, Salud, Ceccherini, Isabella, Chakravarti, Aravinda, Fernández, Raquel M., Garcia-Barcelo, Maria-Mercè, Griseri, Paola, Lyonnet, Stanislas, Tam, Paul K., van IJcken, Wilfred F.J., Eggen, Bart J.L., te Meerman, Gerard J., Hofstra, Robert M.W.
Published in Developmental biology (01.10.2013)
Published in Developmental biology (01.10.2013)
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Common Variants on Xq28 Conferring Risk of Schizophrenia in Han Chinese
WONG, Emily H. M, SO, Hon-Cheong, GARCIA-BARCELO, Maria-Mercè, MCALONAN, Grainne M, CHEN, Eric Y. H, CHEUNG, Eric F. C, CHAN, Raymond C. K, PURCELL, Shaun M, CHERNY, Stacey S, CHEN, Ronald R. L, TAO LI, SHAM, Pak-Chung, MIAOXIN LI, QUANG WANG, BUTLER, Amy W, PAUL, Basil, WU, Hei-Man, HUI, Tomy C. K, CHOI, Siu-Chung, SO, Man-Ting
Published in Schizophrenia bulletin (01.07.2014)
Published in Schizophrenia bulletin (01.07.2014)
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Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype
Cheng, William Wai-Chun, Tang, Clara Sze-Man, Gui, Hong-Sheng, So, Man-Ting, Lui, Vincent Chi-Hang, Tam, Paul Kwong-Hang, Garcia-Barcelo, Maria-Mercè
Published in World journal of gastroenterology : WJG (21.02.2015)
Published in World journal of gastroenterology : WJG (21.02.2015)
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Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors
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
Published in JCI insight (25.01.2022)
Published in JCI insight (25.01.2022)
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Mutations in the NRG1 gene are associated with Hirschsprung disease
Tang, Clara Sze-Man, Ngan, Elly Sau-Wai, Tang, Wai-Kiu, So, Man-Ting, Cheng, Guo, Miao, Xiao-Ping, Leon, Thomas Yuk-Yu, Leung, Brian Man-Chun, Hui, Kenneth-Jeremy W. S., Lui, Vincent Hang-Chai, Chen, Yan, Chan, Ivy Hau-Yee, Chung, Patrick Ho-Yu, Liu, Xue-Lai, Wong, Kenneth Kak-Yuen, Sham, Pak-Chung, Cherny, Stacey S., Tam, Paul Kwong-Hang, Garcia-Barcelo, Maria-Mercè
Published in Human genetics (2012)
Published in Human genetics (2012)
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Implications of Endocrine Gland–Derived Vascular Endothelial Growth Factor/Prokineticin-1 Signaling in Human Neuroblastoma Progression
NGAN, Elly S. W, SIT, Francesco Y. L, TAM, Paul K. H, LEE, Kingliu, XIAOPING MIAO, ZHENGWEI YUAN, WEILIN WANG, NICHOLLS, John M, WONG, Kenneth K. Y, GARCIA-BARCELO, Mercè, LUI, Vincent C. H
Published in Clinical cancer research (01.02.2007)
Published in Clinical cancer research (01.02.2007)
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Cancer gene mutations in congenital pulmonary airway malformation patients
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
Published in ERJ open research (01.02.2019)
Published in ERJ open research (01.02.2019)
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Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development
Tang, Clara Sze-man, Li, Peng, Lai, Frank Pui-Ling, Fu, Alexander Xi, Lau, Sin-Ting, So, Man Ting, Lui, Kathy Nga-Chu, Li, Zhixin, Zhuang, Xuehan, Yu, Michelle, Liu, Xuelai, Ngo, Ngoc D., Miao, Xiaoping, Zhang, Xi, Yi, Bin, Tang, Shaotao, Sun, Xiaobing, Zhang, Furen, Liu, Hong, Liu, Qiji, Zhang, Ruizhong, Wang, Hualong, Huang, Liuming, Dong, Xiao, Tou, Jinfa, Cheah, Kathryn Song-Eng, Yang, Wanling, Yuan, Zhenwei, Yip, Kevin Yuk-lap, Sham, Pak-Chung, Tam, Paul Kwang-Hang, Garcia-Barcelo, Maria-Mercè, Ngan, Elly Sau-Wai
Published in Gastroenterology (New York, N.Y. 1943) (01.12.2018)
Published in Gastroenterology (New York, N.Y. 1943) (01.12.2018)
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Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease
Garcia-Barcelo, Maria-Mercè, Tang, Clara Sze-man, Ngan, Elly Sau-wai, Lui, Vincent Chi-hang, Chen, Yan, So, Man-ting, Leon, Thomas Yuk-yu, Miao, Xiao-ping, Shum, Cathy Ka-yee, Liu, Feng-qin, Yeung, Ming-yiu, Yuan, Zhen-wei, Guo, Wei-hong, Liu, Lei, Sun, Xiao-bing, Huang, Liu-ming, Tou, Jin-fa, Song, You-qiang, Chan, Danny, Cheung, Kenneth M.C, Wong, Kenneth Kak-yuen, Cherny, Stacey S, Sham, Pak-chung, Tam, Paul Kwong-hang
Published in Proceedings of the National Academy of Sciences - PNAS (24.02.2009)
Published in Proceedings of the National Academy of Sciences - PNAS (24.02.2009)
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Journal Article
Whole-genome analysis of noncoding genetic variations identifies multiscale regulatory element perturbations associated with Hirschsprung disease
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
Published in Genome research (01.11.2020)
Published in Genome research (01.11.2020)
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Journal Article
Targeted Next‐Generation Sequencing on Hirschsprung Disease: A Pilot Study Exploits DNA Pooling
Gui, Hongsheng, Bao, Jessie Yunjuan, Tang, Clara Sze‐Man, So, Man‐Ting, Ngo, Diem‐Ngoc, Tran, Anh‐Quynh, Bui, Duc‐Hau, Pham, Duy‐Hien, Nguyen, Thanh‐Liem, Tong, Amy, Lok, Si, Sham, Pak‐Chung, Tam, Paul Kwong‐Hang, Cherny, Stacey S., Garcia‐Barcelo, Maria‐Mercè
Published in Annals of human genetics (01.09.2014)
Published in Annals of human genetics (01.09.2014)
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NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing
Cao, Yujie, Yin Ha, Shau, So, Chi-Chiu, For, Tong Ming, Sze-Man Tang, Clara, Zhang, Huoru, Liang, Rui, Yang, Jing, Hon-Yin Chung, Brian, Chi-Fung Chan, Godfrey, Lau, Yu-Lung, Garcia-Barcelo, Maria-Mercè, Shiu-Kwan Ma, Edmond, Sucharitchan, Pranee, Hirankarn, Nattiya, Yang, Wanling
Published in The Journal of molecular diagnostics : JMD (01.10.2022)
Published in The Journal of molecular diagnostics : JMD (01.10.2022)
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Journal Article
Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing
Tang, Clara Sm, Zhuang, Xuehan, Lam, Wai-Yee, Ngan, Elly Sau-Wai, Hsu, Jacob Shujui, Michelle, Y U, Man-Ting, S O, Cherny, Stacey S, Ngo, Ngoc Diem, Sham, Pak C, Tam, Paul Kh, Garcia-Barcelo, Maria-Mercè
Published in European journal of human genetics : EJHG (01.06.2018)
Published in European journal of human genetics : EJHG (01.06.2018)
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De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca
Hsu, Jacob S J, So, Manting, Tang, Clara S M, Karim, Anwarul, Porsch, Robert M, Wong, Carol, Yu, Michelle, Yeung, Fanny, Xia, Huimin, Zhang, Ruizhong, Cherny, Stacey S, Chung, Patrick H Y, Wong, Kenneth K Y, Sham, Pak C, Ngo, Ngoc Diem, Li, Miaoxin, Tam, Paul K H, Lui, Vincent C H, Garcia-Barcelo, Maria-Mercè
Published in Human molecular genetics (15.01.2018)
Published in Human molecular genetics (15.01.2018)
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Journal Article
Sacral agenesis: a pilot whole exome sequencing and copy number study
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
Published in BMC medical genetics (22.12.2016)
Published in BMC medical genetics (22.12.2016)
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A random forest-based framework for genotyping and accuracy assessment of copy number variations
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
Published in NAR genomics and bioinformatics (01.09.2020)
Published in NAR genomics and bioinformatics (01.09.2020)
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Journal Article
Screening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations
Ngo, Diem-Ngoc, So, Man-Ting, Gui, Hongsheng, Tran, Anh-Quynh, Bui, Duc-Hau, Cherny, Stacey, Tam, Paul Kwong-Hang, Nguyen, Thanh-Liem, Garcia-Barcelo, Maria-Mercè
Published in Journal of pediatric surgery (01.10.2012)
Published in Journal of pediatric surgery (01.10.2012)
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