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	Title	Author(s)	Issue Date
	ATP-binding cassette (ABC) transporter recessive mutations in biliary atresia cases Proceeding/Conference:American Society of Human Genetics (ASHG) 2019 Annual Meeting	Lam, WY Hsu, SJ Tang, SM So, MT Chung, HY Tam, PKH Garcia-Barcelo, MM	2019
	Burden of rare variants in ALS genes influences survival in familial and sporadic ALS Journal:Neurobiology of Aging	Pang, SYY HSU, SJ Teo, KC LI, Y Kung, MHW Cheah, KSE Chan, D Cheung, KMC Li, M Sham, PC Ho, SL	2017
	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
	De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca Journal:Human Molecular Genetics	HSU, SJ So, MT Tang, SM Karim, A Porsch, RM Wong, CWY Yu, MON Yeung, F Xia, H ZHANG, R Cherny, SS Chung, HY Wong, KKY Sham, PC Ngo, ND Li, M Tam, PKH Lui, VCH Garcia-Barcelo, MM	2018
	Exome sequencing reveals a recessive mechanism involving interacting genes in persistent cloaca Proceeding/Conference:Annual International Congress of the British Association of Paediatric Surgeons, BAPS 2016	Hsu, SJ Zhang, R Yeung, F Wong, CWY Yu, M Ngo, ND Quang, T So, MT Li, M Sham, PC Xia, HM Tam, PKH Garcia-Barcelo, MM	2016
	Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism Journal:EBioMedicine	Lam, WY Tang, SM So, MT Yue, H HSU, SJ Chung, HY Nicholls, JM Yeung, F Lee, DCW Ngo, DN Nguyen, PAH Mitchison, HM Jenkins, D O'Callaghan, C Garcia-Barcelo, MM Lee, SL Sham, PC Lui, VCH Tam, PKH	2021
	Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework Journal:Nucleic Acids Research	Li, M LI, J Li, J Pan, Z HSU, SJ Liu, D Zhan, X Wang, JJ Song, Y Sham, PC	2017
	Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing Journal:European Journal of Human Genetics	Tang, SM Zhuang, X Lam, WY Ngan, ESW HSU, SJ Yu, M So, MT Cherny, SS Ngo, ND Sham, PC Tam, PKH Garcia-Barcelo, MM	2018
	Whole exome sequencing analysis in biliary atresia: a follow-up study Proceeding/Conference:68th Annual Meeting of the American Society of Human Genetics, 2018	Lam, WY Hsu, SJ Tang, SM So, MT Chung, HY Tam, PKH Garcia-Barcelo, MM	2018
	Whole exome sequencing reveals a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia Proceeding/Conference:The 67th Annual Congress of the British Association of Paediatric Surgeons (Virtual), U.K. 7-9 July 2022	Lam, WY So, MT HSU, SJ Chung, HY Ngo, DM Nguyen, PAH Mitchison, HM Jenkins, D O'Callaghan, C Sham, PC Garcia-Barcelo, MM Lui, VCH Tang, SM Tam, PKH	2021

Showing results 1 to 10 of 10