Browsing by Author TSANG, MHY

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Showing results 1 to 16 of 16
TitleAuthor(s)Issue DateViews
 
A fatal case of COQ7-associated primary coenzyme Q10 deficiency
Journal:JIMD Reports
Kwong, AKYChiu, ATGTSANG, MHYLun, KSRodenburg, RJTSmeitink, JChung, BHYFung, CW
2019
99
 
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis
Journal:npj Genomic Medicine
Fung, JLFYU, MHCHuang, SCHUNG, CCYChan, MCYPajusalu, SMak, CCYHui, VCCTSANG, MHYYeung, KSLek, MChung, BHY
2020
35
 
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population
Journal:PLoS Genetics
YU, MHCChan, MCYCHUNG, CCYLi, AWTYip, CYWMak, CCYCHAU, JFTLEE, MFung, JLFTSANG, MHYChan, JCKWong, WHSYang, JChui, WCMChung, PHYYang, WLee, SLChan, GCFTam, PKHLau, YLTang, CSMYeung, KSChung, BHY
Editor(s):Limdi, N
2021
54
 
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data
Journal:Journal of Human Genetics
Yu, MHCMak, CCYFung, JLFLee, MTsang, MHYChau, JFTChung, PHYYang, WChan, GCFLee, SLLau, YLTam, PKHTang, CZMYeung, KSChung, BHY
2021
50
 
Comprehensive genetic evaluation in paediatric-onset mitochondrial diseases
Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, & Hong Kong College of Paediatric Nursing
Tsang, MHYKwong, AKYFung, JLFYu, MHCYeung, KSMak, CCYRodenburg, RSmeitink, JLuk, HMLo, FMIChung, BHYFung, CW
2019
50
 
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
Journal:Human Genomics
TSANG, MHYKwong, AKYChan, KLSFung, JLFYU, MHCMak, CCYYeung, KSRodenburg, RJTSmeitink, JAMChan, RTsoi, THui, JWong, SSNTai, SMChan, VCMMa, CKFung, STHWu, SPChak, WKChung, BHYFung, CW
2020
25
 
Detecting expansion of short tandem repeat in whole exome sequencing data of movement disorder cohort with bioinformatics tool expansion hunter
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)
Chui, MCMCHAU, FTJYU, MHCFung, JLFLEE, MMak, CCYTsang, MHYChan, JCKCHUNG, CCYYeung, KSChung, BHY
2020
46
 
Exome sequencing in paediatric patients with movement disorders [accepted - OJRD-D-20-00713R2]
Journal:Orphanet Journal of Rare Diseases
Kwong, AKYTSANG, MHYFung, JLFMak, CCYChan, KLSRodenburg, RJTLek, MHuang, SPajusalu, SYau, MMTsoi, CFung, SLiu, KTMa, CKWong, SYau, EKCTai, SMFung, ELWWu, NSPTsung, LYSmeitink, JChung, BHYFung, CW
2021
44
 
High diagnostic yield by whole exome sequencing in a cohort of patients with movement disorders and/or progressive spasticity – possible targeted treatment implications and a way to precison medicine
Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, & Hong Kong College of Paediatric Nursing
Kwong, KYTsang, MHYFung, JLFRodenburg, RJTSmeitink, JChung, BHYFung, CW
2019
33
 
How common is mosaicism? The 9 years-experience in a university affiliated genetic clinic in Hong Kong
Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, & Hong Kong College of Paediatric Nursing
Lui, ACYChan, MCYFung, JLFYu, MHCMak, CCYTsang, MHYLee, MYeung, KSChung, BHY
2019
62
 
Megaconial Congenital Muscular Dystrophy: Same Novel Homozygous Mutation In Chkb Gene In Two Unrelated Chinese Patients
Journal:Neuromuscular Disorders
Chan, HSSHo, RSLKhong, PLChung, BHYTSANG, MHYYU, MHCYeung, MCYChan, AOKFung, CW
2020
46
 
Muddling Through Muscle Genes – The Quest For Diagnosis In 50 Patients With Neuromuscular Disorders Using Whole Exome Sequencing.
Proceeding/Conference:Asian Oceanian Congress of Child Neurology
Tsang, MHYChiu, ATGKwong, BMHRui, LIANGYu, MHCYeung, KSHo, WHLMak, CCYLeung, GKCMuntoni, FChung, BHYChan, HSS
2019
45
 
Next generation sequencing in prenatal diagnosis
Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017
Leung, GKCMak, CCYPei, SLCTsang, MHYYu, MHCYeung, KSMok, GTKHui, APWTang, MHYChan, KYKKan, SYAChung, BHY
2017
52
 
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
Journal:npj Genomic Medicine
YU, MHCTSANG, MHYLai, SHo, MSPTse, DMLWillis, BKwong, AKYChou, YYLin, SPQuinzii, CMHwu, WLChien, YHKuo, PLChan, VCMTsoi, CChong, SCRodenburg, RJTSmetinik, JMak, CCYYeung, KSFung, LFLam, WHui, JLee, NCFung, CWChung, BHY
2019
68
 
The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes
Journal:Molecular Genetics & Genomic Medicine
Yeung, KSYu, FNYFung, CWWong, SLee, HCHFung, STHFung, GPGLeung, KYChung, WHLee, YTNg, VKSYU, HCFung, JLFTSANG, MHYChan, KYKChan, SHSKan, ASYChung, BHY
2020
49
 
The KLHL40C.1516A>C is a Chinese-specific founder mutation in causing nemaline myopathy 8
Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, & Hong Kong College of Paediatric Nursing
Yeung, KSYu, YNFung, CWWong, SLee, HCHFung, STHFung, GPGYu, MHCFung, JLFTsang, MHYChan, YKChan, HSSKan, SYAChung, BHY
2019
36
Showing results 1 to 16 of 16