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Title	Author(s)	Issue Date
Application of HapMap data to the evaluation of 8 candidate genes for pediatric slow transit constipation Journal:Journal of Pediatric Surgery	GarciaBarcelo, M King, SK Miao, X So, Mt Holden, WT Moore, JH Sutcliffe, JR Hutson, JM Tam, PKH	2007
Cancer gene mutations in congenital pulmonary airway malformation patients Journal:ERJ Open Research	HSU, SJ ZHANG, R Yeung, F Tang, SM WONG, KL So, MT Xia, H Sham, PC Tam, PKH Li, M Wong, KKY Garcia-Barcelo, MM	2019
Characterization of cell cycle phase-based microRNAs in pluripotency and differentiation Journal:Cell & Developmental Biology	Wang, X Ming, X Wan, TMH Chen, L Garcia-Barcelo, MM Lo, CM	2017
Common genetic variants regulating ADD3 gene expression alter biliary atresia risk Journal:Journal of Hepatology	Cheng, G Tang, CSM Wong, EHM Cheng, WWC So, MT Miao, X Zhang, R Cui, L Liu, X Ngan, ESW Lui, VCH Chung, HY Chan, IHY Liu, J Zhong, W Xia, H Yu, J Qiu, X Wu, X Wang, B Dong, X Tou, J Huang, L Yi, B Ren, H Chan, EKW Ye, K O'Reilly, PF Wong, KKY Sham, PC Cherny, SS Tam, PKH García-Barceló, MM	2013
Conditional deletion of platelet derived growth factor receptor alpha (Pdgfra) in urorectal mesenchyme causes mesenchyme apoptosis and urorectal developmental anomalies in mice Journal:Cell Death and Differentiation	QIAN, C Wu, Z Ng, RCL Garcia-Barcelo, MM Yuan, ZW Wong, KKY Tam, PKH Lui, VCH	2019
Copy Number Variations (CNVs) analysis of Hirschsprung Disease (HSCR) using Whole Genome Sequencing (WGS) data Proceeding/Conference:The 5th International Symposium on Development of the Enteric Nervous System: cells, signals genes and therapy, 2018	Zhuang, X Tang, SM Sham, PC Tam, PKH Garcia-Barcelo, MM	2018
Correction of Hirschsprung-Associated Mutations in Human Induced Pluripotent Stem Cells Via Clustered Regularly Interspaced Short Palindromic Repeats/Cas9, Restores Neural Crest Cell Function Journal:Gastroenterology	Lai, FPL Lau, CST Wong, JKL Gui, H Wang, X Zhou, T Lai, KWH Tse, HF Tam, PKH Garcia-Barcelo, MM Ngan, ESW	2017
Cost effective assay choice for rare disease study designs Proceeding/Conference:Human Heredity	Campbell, DD Porsch, RM Cherny, SS Capra, V Merello, E De Marco, P Sham, PC Garcia-Barcelo, MM	2015
Deciphering the genetic basis of Hirschsprung disease by whole genome sequencing Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2016	Tang, SM Gui, HS So, MT Cherny, SS Sham, PC Garcia-Barcelo, MM Tam, PKH	2016
Differential contributions of rare and common, coding and noncoding ret mutations to multifactorial hirschsprung disease liability Journal:American Journal of Human Genetics	Emison, ES GarciaBarcelo, M Grice, EA Lantieri, F Amiel, J Burzynski, G Fernandez, RM Hao, L Kashuk, C West, K Miao, X Tam, PKH Griseri, P Ceccherini, I Pelet, A Jannot, AS De Pontual, L HenrionCaude, A Lyonnet, S Verheij, JBGM Hofstra, RMW Antiñolo, G Borrego, S McCallion, AS Chakravarti, A	2010
ELF1 is associated with systemic lupus erythematosus in Asian populations Journal:Human Molecular Genetics	Yang, J Yang, W Hirankarn, N Ye, DQ Zhang, Y Pan, HF Mok, CC Chan, TM Sing Wong, RW Mok, MY Lee, KW Wong, SN Ho Leung, AM Li, XP Avihingsanon, Y Rianthavorn, P Deekajorndej, T Suphapeetiporn, K Shotelersuk, V Baum, L Kwan, P Lee, TL Kung Ho, MH Wah Lee, PP Sang Wong, WH Zeng, S Zhang, J Wong, CM Lin Ng, IO GarciaBarceló, MM Cherny, SS Tam, PKH Sham, PC Lau, CS Lau, YL	2011
Epidemiological and genetic analysis of Banglaeshi Hirschsprung disease patients (Poster presentation) Proceeding/Conference:The 5th International Symposium on Development of the Enteric Nervous System: cells, signals genes and therapy, 2018	Karim, A Akter, M Aziz, TT Hoque, M Chowdhury, TK Imam, MDS Walid, A So, MT Lam, WY Tang, SM Wong, KKY Tam, PKH Garcia-Barcelo, MM Banu, T	2018
Epidemiological characteristics of Hirschsprung’s disease (HSCR): Results of a case series of fifty patients from Bangladesh Journal:Journal of Pediatric Surgery	Karim, MA Akter, M Aziz, TT Hoque, M Chowdhury, TK Imam, MS Walid, A Kabir, M So, MT Lam, WY Tang, SM Wong, KKY Tam, PKH Garcia-Barcelo, MM Banu, T	2018
Evaluation of candidate genes for Hirschsprung disease using targeted sequencing Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG	Lam, WY Tang, CSM Sham, PC Tam, PKH Cherny, SS Garcia-Barcelo, MM	2017
Evaluation of the NK2 homeobox 1 gene (NKX2-1) as a hirschsprung's disease locus Journal:Annals of Human Genetics	Garciabarceló, MM Lau, DK Ngan, ES Leon, TY Liu, T So, M Miao, X Lui, VC Wong, KK Ganster, RW Cass, DT Croaker, GDH Tam, PK	2008
Evaluation of the thyroid transcription factor-1 gene (TITF1) as a Hirschsprung's disease locus Journal:Annals of Human Genetics	GarciaBarceló, MM Lau, DKC Ngan, ESW Leon, TYY Liu, TT So, MT Miao, XP Lui, VCC Wong, KKY Ganster, RW Cass, DT Croaker, GDH Tam, PKH	2007
Evaluation of thyroid transcription factor 1 (TTF-1) as a Hirschsprung's disease (HSCR) locus by mutation analysis Proceeding/Conference:ENS 2006 Meeting	Lau, KC Garcia-Barcelo, MM Leon, YY So, MT Tam, PKH	2006
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations Journal:PLoS ONE	van de Putte, R Wijers, CHW Reutter, H Vermeulen, SH Marcelis, CLM Brosens, E Broens, PMA Homberg, M Ludwig, M Jenetzky, E Zwink, N Sloots, CEJ de Klein, A Brooks, AS Hofstra, RMW Holsink, SAC van der Zanden, LFM Galesloot, TE Tam, PKH Steehouwer, M Acuna-Hidalgo, R van de Vorst, M Kiemeney, LA Garcia-Barcelo, MM de Blaauw, I Brunner, H Roeleveld, N van Rooij, IALM	2019
Exome sequencing of a pedigree with Caudal Regression Syndrome (CRS) Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2012	Cheng, G Wong, EHM Sham, PC Cherny, SS Maas, S Scherer, SW Marshall, CR Pereira, SL Tam, PKH Garcia-Barcelo, MM	2012
Fine mapping of the NRG1 Hirschsprung's-associated gene Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2010	Garcia-Barcelo, MM Tang, C Tang, WK So, MT Sham, PC Cherny, SS Tam, PH	2010

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