Actionable secondary findings from whole-genome sequencing of 954 East Asians von Tang, Clara Sze-man, Dattani, Saloni, So, Man-ting, Cherny, Stacey S., Tam, Paul K. H., Sham, Pak C., Garcia-Barcelo, Maria-Mercè

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

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Common genetic variants regulating ADD3 gene expression alter biliary atresia risk von Cheng, Guo, Tang, Clara Sze-Man, Wong, Emily Hoi-Man, Cheng, William Wai-Chun, So, Man-Ting, Miao, Xiaoping, Zhang, Ruizhong, Cui, Long, Liu, Xuelai, Ngan, Elly Sau-Wai, Lui, Vincent Chi-Hang, Chung, Patrick Ho-Yu, Chan, Ivy Hau-Yee, Liu, Juncheng, Zhong, Wei, Xia, Huimin, Yu, Jiakang, Qiu, Xiu, Wu, Xuan-Zhao, Wang, Bin, Dong, Xiao, Tou, Jinfa, Huang, Liuming, Yi, Bin, Ren, Hongxia, Chan, Edwin Kin-Wai, Ye, Kenny, O′Reilly, Paul F, Wong, Kenneth Kak-Yuen, Sham, Pak-Chung, Cherny, Stacey S, Tam, Paul Kwong-Hang, Garcia-Barceló, Maria-Mercè

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Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2 von Garcia-Barceló, Maria-Mercè, Yeung, Ming-Yiu, Miao, Xiao-Ping, Tang, Clara Sze-Man, Chen, Guo, So, Man-Ting, Ngan, Elly Sau-Wai, Lui, Vincent Chi-Hang, Chen, Yan, Liu, Xue-Lai, Hui, Kenneth-Jeremy W.S., Li, Long, Guo, Wei-Hong, Sun, Xiao-Bin, Tou, Jin-Fa, Chan, Kin-Wai, Wu, Xuan-Zhao, Song, You-Qiang, Chan, Danny, Cheung, Kenneth, Chung, Patrick Ho-Yu, Wong, Kenneth Kak-Yuen, Sham, Pak-Chung, Cherny, Stacey S., Tam, Paul Kwong-Hang

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

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Common Variants on Xq28 Conferring Risk of Schizophrenia in Han Chinese von 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

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Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype von 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

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Gene network analysis of candidate loci for human anorectal malformations von 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

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Genome-wide copy number analysis uncovers a new HSCR gene: NRG3 von 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 W, Scherer, Steve, Cherny, Stacey S, Sham, Pak-Chung, Tam, Paul Kwong-Hang, Garcia-Barceló, Maria-Mercè

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A Germline Mutation (A339V) in Thyroid Transcription Factor-1 (TITF-1/NKX2.1) in Patients With Multinodular Goiter and Papillary Thyroid Carcinoma von Ngan, Elly S. W., Lang, Brian H. H., Liu, Tingting, Shum, Cathy K. Y., So, Man-Ting, Lau, Danny K. C., Leon, Thomas Y. Y., Cherny, Stacey S., Tsai, Sophia Y., Lo, Chung-Yau, Khoo, Ui-Soon, Tam, Paul K. H., Garcia-Barceló, Maria-Mercè

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

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Identification of a HOXD13 mutation in a VACTERL patient von Garcia‐Barceló, Maria‐Mercè, Wong, Kenneth Kak‐yuen, Lui, Vincent Chi‐hang, Yuan, Zhen‐wei, So, Man‐ting, Ngan, Elly Sau‐wai, Miao, Xiao‐ping, Chung, Patrick Ho‐yu, Khong, Pek‐lan, Tam, Paul Kwong‐hang

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

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Fine mapping of the NRG1 Hirschsprung's disease locus von 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

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Transcriptional regulation of RET by Nkx2-1, Phox2b, Sox10, and Pax3 von Leon, Thomas Y.Y, Ngan, Elly S.W, Poon, Hiu-Ching, So, Man-Ting, Lui, Vincent C.H, Tam, Paul K.H, Garcia-Barcelo, Maria Mercedes

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Cancer gene mutations in congenital pulmonary airway malformation patients von 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

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

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

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Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism von Liu, Wei, Wong, John K L, He, Qiuming, Wong, Emily H M, Tang, Clara S M, Zhang, Ruizhong, So, Man-Ting, Wong, Kenneth K Y, Nicholls, John, Cherny, Stacey S, Sham, Pak C, Tam, Paul K, Garcia-Barcelo, Maria-Mercè, Xia, Huimin

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Allele-Specific Expression at the RET Locus in Blood and Gut Tissue of Individuals Carrying Risk Alleles for Hirschsprung Disease von Matera, Ivana, Musso, Marco, Griseri, Paola, Rusmini, Marta, Di Duca, Marco, So, Man-ting, Mavilio, Domenico, Miao, Xiaoping, Tam, Paul HK, Ravazzolo, Roberto, Ceccherini, Isabella, Garcia-Barcelo, Merce

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