Browsing by Author Yeung, KS

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TitleAuthor(s)Issue DateViews
 
EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome
Journal:Journal of Translational Genetics and Genomics
Goodman, SJCytrynbaum, CChung, BHYChater-Diehl, EAziz, CTurinsky, ALKellam, BKeller, MKo, JMCaluseriu, OGrafodatskaya, DMcCready, EPerrier, RYeung, KSLuk, HMMachado, JBrudno, MStavropoulos, DJScherer, SWInnes, AMCheung, SWChoufani, SWeksberg, R
2020
36
 
Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis
Journal:Frontiers in Genetics
YU, MHCCHAU, JFTAu, SLKLo, HMYeung, KSFung, JLFMak, CCYCHUNG, CCYChan, KYKChung, BHYKan, ASY
2021
38
 
Evaluating the clinical utility of genome sequencing for cytogenetically balanced chromosomal abnormalities in prenatal diagnosis
Proceeding/Conference:Health Research Symposium 2021
Yu, MHCChau, FTJAu, SLKLo, HMYeung, KSFung, JLFMak, CCYChung, CCYChan, KYKChung, BHYKan, ASY
2021
8
 
Evaluating the diagnostgic impact and cost of rapid whole-exome sequencing for rare genetic diseases 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
Chung, CYYeung, KSYu, HCMak, CCYFung, LFLeung, GKCChan, GCFLee, SLChung, BHY
2019
33
 
Evidence of spread of X Chromosome inactivation on Chromosome 15 in a girl with an Unbalanced t(X;15) Translocation
Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)
Yeung, KSChee, WYYLuk, HMTang, MHYLau, ETKShuen, YALo, IFMChan, YKChung, BHY
2013
74
 
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey
Journal:npj Genomic Medicine
Mak, CCYLeung, KCMok, TKGYeung, KSYang, WFung, CWChan, HSSLee, SLLee, NCPfundt, RLau, YLChung, BHY
2018
89
 
Exome sequencing identifies compound heterozygous DYNC2H1 variants associated with short-rib polydactyly syndrome type III with involvement of omphalocele in a fetus.
Proceeding/Conference:23rd Internatinal Conference on Prenatal Diagnosis and Therapy (ISPD 2019)
Chan, YKAu, LKSCheung, KWYeung, KSYu, HCChung, BHYKan, SYA
2019
46
 
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy
Journal:Epilepsia Open
Tsang, HYLeung, KCHo, CCAYeung, KSMak, CCYPei, LCSYu, HCKan, SYAChan, YKKwong, KLLee, SLYung, AWYFung, CWChung, BHY
2019
106
 
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, BHYYeung, KSTso, WYWYing, DIp, JKJChu, WYLeung, KCMak, CCY
2016
57
 
Expanded carrier screening panels and the prevention of inherited monogenic diseases: The first key in precision medicine evaluated using 1116 Hong Kong Chinese exome sequencing data
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)
YU, MHCCHAU, FTJYeung, CCWKwok, AWCLee, RChui, MMCFung, JLFLee, MMak, CCYChan, MCYTSANG, HYChan, JCKCHUNG, CCYChung, PHYYang, WLee, SLChan, GCFTam, PKHLau, YLTang, SMYeung, KSChung, BHY
2020
41
 
Genome-Wide DNA Methylation Analysis of Chinese Patients with Systemic Lupus Erythematosus Identified Hypomethylation in Genes Related to the Type I Interferon Pathway
Journal:PLoS ONE
YEUNG, KSChung, BHYChoufani, SMok, MYTWong, WLMAK, CCYYang, WLee, PPWWong, WHSChen, YAGrafodatskaya, DWong, RMSLau, WCSChan, TMWeksberg, RLau, YL
2017
211
 
Genome-wide DNA methylation analysis of Hong Kong Chinese systemic lupus erythematosus patients identified hypomethylated genes related to type I interferon
Proceeding/Conference:Epigenomics of Common Diseases Conference
Yeung, KSChoufani, SChen, YAGrafodatskaya, DLee, PPWYang, WWeksberg, RLau, YLChung, BHY
2013
54
 
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, DShek, NWMChu, WYYeung, KSLeung, KCTang, MHYKan, SYAChan, YKChung, BHY
2014
80
 
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, DShek, NWMChu, YWYYeung, KSLeung, KCTang, MHYKan, ASYChan, YKChung, BHY
2015
80
 
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
45
 
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, KCYing, DMak, CCYChen, XYXu, WYeung, KSChu, WYMok, TKGChau, SKCMcLuskey, JOng, WPTLeong, HYChan, YKYang, WChen, JHLi, AMLau, YLLee, SLChung, BHY
2016
87
 
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, GKCYing, DShek, NWMChu, WYYeung, KSTang, MHYKan, SYAChan, YKIp, JKJYang, WLau, YLChung, BHY
2016
59
 
Identification of epigenetic alterations in imprinting growth disorders
Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting
Wong, WLChu, WYYeung, KSMak, CCYWong, KYLi, RHWTang, MHYChung, BHY
2014
42
 
Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism
Journal:Molecular Autism
Yeung, KSTso, WYWIp, JKJMAK, CCYLeung, KCTSANG, HYYing, DPei, LCSLee, SLYang, WChung, BHY
2017
95
 
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)
Journal:BMC Medical Genomics
Leung, KCMak, CCYFung, LFWong, WHSTsang, HYYu, HCPei, LCSYeung, KSMok, TKGLee, CPHui, PWTang, MHYChan, YKLiu, APYYang, WSham, PCKan, SYAChung, BHY
2018
102
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