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Title	Author(s)	Issue Date	Views
A novel role of CC2D1A in human heterotaxy and ciliary dysfunction Proceeding/Conference:Joint Annual Scientific Meeting 2020 of The Hong Kong Paediatric Society (HKPS), Hong Kong College of Paediatricians (HKCPaed), Hong Kong Paediatric Nurses Association (HKPNA) and Hong Kong College of Paediatric Nursing (HKCPN)	Mak, CCY Ma, ACH Yeung, KS Pei, LCS Ying, D Yu, HC Hasan, KMM Chen, X Cheung, YF Chung, BHY	2020	47
The Application of Whole-Exome Sequencing in Diagnosis Pediatric Rare Disease in Hong Kong Journal:North American Journal of Medicine and Science	Mak, CCY Ying, D LEUNG, KC Lee, PPW Yang, J Yang, W Chung, BHY Lau, YL	2014	89
cepip: context-dependent epigenomic weighting for prioritization of regulatory variants and disease-associated genes Journal:Genome Biology	Li, J Li, M Liu, Z Yan, B Pan, Z Huang, D Liang, Q Ying, D Xu, F Yao, H Wang, P Kocher, JA Xia, Z Sham, PC Liu, JS Wang, JJ	2017	163
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis Journal:Molecular Genetics & Genomic Medicine	LEUNG, KC Ying, D MAK, CCY Chen, XY Xu, W YEUNG, KS Wong, WL Chu, WY Mok, TKG Chau, SKC McLuskey, J Ong, WPT Leong, HY Chan, YK Yang, W Chen, JH Li, AM Sham, PC Lau, YL Chung, BHY Lee, SL	2017	110
CFTR: I1023R is a rare but recurrent disease-causing mutation found in Chinese patients with cystic fibrosis Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2014	Leung, KC Mak, CCY Chen, YX Chau, CSK Ying, D Chu, WY Li, AM Yang, W Lau, YL Chan, KYK Chen, JH Lee, SL Chung, BHY	2014	87
Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency Journal:Clinical Genetics	Yang, W Lee, PPW Thong, MK Ramanujam, TM Shanmugam, A Koh, MT Chan, KW Ying, D Wang, Y Shen, J Yang, J Lau, YL	2015
Epistatic Interaction between Genetic Variants in Susceptibility Gene ETS1 Correlates with IL-17 Levels in SLE Patients Journal:Annals of Human Genetics	Zhang, J Zhang, Y Zhang, L Yang, J Ying, D Zeng, S Lee, TL Lau, WCS Chan, DTM Leung, AMH Mok, CC Wong, SN Lee, KW Ho, MHK Lee, PPW Chung, BHY Chong, CY Wong, RWS Mok, TMY Wong, WHS Lau, YL Yang, W	2013	142
Exome sequencing of a Chinese patient cohort with ID/ASD and macrocephaly/megalencephaly: Identification of a patient with biallelic PTEN mutations and others with germline/ post-zygotic mutations in PIK3C-AKT-mTOR pathway Proceeding/Conference:17th Manchester Dysmorphology Conference	Chung, BHY Yeung, KS Tso, WYW Ying, D Ip, JKJ Chu, WY Leung, KC Mak, CCY	2016
Gene-Based Meta-Analysis of Genome-Wide Association Study Data Identifies Independent Single-Nucleotide Polymorphisms in ANXA6 as Being Associated With Systemic Lupus Erythematosus in Asian Populations Journal:Arthritis & Rheumatology	Zhang, J Zhang, L Zhang, Y Yang, J Guo, M Sun, L Pan, HF Hirankarn, N Ying, D Zeng, S Lee, TL Lau, WCS Chan, DTM Leung, AMH Mok, CC Wong, SN Lee, KW Ho, MHK Lee, PPW Chung, BHY Chong, CC Wong, RWS Mok, TMY Wong, WHS Tong, KL Tse, NKC Li, XP Avihingsanon, Y Rianthavorn, P Deekajorndej, T Suphapeetiporn, K Shotelersuk, V Ying, SKY Fung, SKS Lai, WM Garcia-Barceló, MM Cherny, SS Sham, PC Cui, Y Yang, S Ye, DQ Zhang, XJ Lau, YL Yang, W	2015	133
Genome-wide association study in asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus Journal:PLoS Genetics	Yang, W Shen, N Ye, DQ Liu, Q Zhang, Y Qian, XX Hirankarn, N Ying, D Pan, HF Mok, CC Chan, TM Wong, RWS Lee, KW Mok, MY Wong, SN Leung, AMH Li, XP Avihingsanon, Y Wong, CM Lee, TL Ho, MHK Lee, PPW Chang, YK Li, PH Li, RJ Zhang, L Wong, WHS Ng, IOL Lau, CS Sham, PC Lau, YL	2010	326
HaploShare: identification of extended haplotypes shared by cases and evaluation against controls Journal:Genome Biology (Online Edition)	Ying, D Sham, PC Smith, DK Zhang, L Lau, YL Yang, W	2015	162
HLAreporter: a tool for HLA typing from next generation sequencing data Journal:Genome Medicine	Huang, Y Yang, J Ying, D Zhang, Y Shotelersuk, V Hirankarn, N Sham, PC Lau, YL Yang, W	2015	93
Homozygosity mapping on a single patient-identification of homozygous regions of recent common ancestry by using population data Journal:Human Mutation	Zhang, L Yang, W Ying, D Cherny, SS Hildebrandt, F Sham, PC Lau, YL	2011	139
Homozygous Missense Mutation in ABR Causes Cerebellar Hypoplasia with Early Lethality - A New Condition Identified by Exome Sequencing? Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Ying, D Shek, NWM Chu, WY Yeung, KS Leung, KC Tang, MHY Kan, SYA Chan, YK Chung, BHY	2014	67
Homozygous missense mutation in ABR causes cerebellar hypoplasia with early lethality: a new condition identified by exome sequencing? Proceeding/Conference:American Journal of Medical Genetics Part A	Ying, D Shek, NWM Chu, YWY Yeung, KS Leung, KC Tang, MHY Kan, ASY Chan, YK Chung, BHY	2015	72
Identification of a CFTR founder mutations, c.3068T>G:p.I1023R, which causes protein trafficking defects in Chinese patients with cystic fibrosis Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	Leung, KC Ying, D Mak, CCY Chen, XY Xu, W Yeung, KS Chu, WY Mok, TKG Chau, SKC McLuskey, J Ong, WPT Leong, HY Chan, YK Yang, W Chen, JH Li, AM Lau, YL Lee, SL Chung, BHY	2016	30
Identification of a novel homozygous missense mutation in ABR causing cerebellar hypoplasia with early lethality Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	Leung, GKC Ying, D Shek, NWM Chu, WY Yeung, KS Tang, MHY Kan, SYA Chan, YK Ip, JKJ Yang, W Lau, YL Chung, BHY	2016	52
Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism Journal:Molecular Autism	Yeung, KS Tso, WYW Ip, JKJ MAK, CCY Leung, KC TSANG, HY Ying, D Pei, LCS Lee, SL Yang, W Chung, BHY	2017	98
In-depth cDNA Library Sequencing Provides Quantitative Gene Expression Profiling in Cancer Biomarker Discovery Journal:Genomics, Proteomics and Bioinformatics	Yang, W Ying, D Lau, YL	2009
Meta-analysis Followed by Replication Identifies Loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as Associated with Systemic Lupus Erythematosus in Asians Journal:The American Journal of Human Genetics	Yang, W Tang, H Zhang, Y Tang, X Zheng, J Sun, L Yang, J Cui, Y Zhang, L Hirankarn, N Cheng, H Pan, HF Gao, J Lee, TL Sheng, Y Lau, WCS Li, Y Chan, TM Yin, X Ying, D Lu, Q Leung, AMH Zuo, X Chen, X Tong, KL Zhou, F Diao, Q Tse, NKC Xie, H Mok, CC Hao, F Wong, SN Shi, B Lee, KW Hui, Y Ho, MHK Liang, B Lee, PPW Cui, H Guo, Q Chung, BHY Pu, X Liu, Q Zhang, X Zhang, C Chong, CY Fang, H Wong, RWS Sun, Y Mok, TMY Li, XP Avihingsanon, Y Zhi, Z Rianthavorn, P Deekajorndej, T Suphapeetiporn, K Gao, F Shotelersuk, V Kang, X Ying, SKY Zhang, L Wong, WHS Zhu, D Fung, SKS Zeng, F Lai, WM Wong, CM Ng, IOL Garcia-Barcelo, MM Cherny, SS Shen, N Tam, PKH Sham, PC Ye, DQ Yang, S Zhang, X Lau, YL	2013	158

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