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Title	Author(s)	Issue Date	Views
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, KS Chee, WYY Luk, HM Tang, MHY Lau, ETK Shuen, YA Lo, IFM Chan, YK Chung, BHY	2013	44
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey Journal:npj Genomic Medicine	Mak, CCY Leung, KC Mok, TKG Yeung, KS Yang, W Fung, CW Chan, HSS Lee, SL Lee, NC Pfundt, R Lau, YL Chung, BHY	2018	96
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, YK Au, LKS Cheung, KW Yeung, KS Yu, HC Chung, BHY Kan, SYA	2019	52
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy Journal:Epilepsia Open	Tsang, HY Leung, KC Ho, CCA Yeung, KS Mak, CCY Pei, LCS Yu, HC Kan, SYA Chan, YK Kwong, KL Lee, SL Yung, AWY Fung, CW Chung, BHY	2019	111
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	43
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, MHC CHAU, FTJ Yeung, CCW Kwok, AWC Lee, R Chui, MMC Fung, JLF Lee, M Mak, CCY Chan, MCY TSANG, HY Chan, JCK CHUNG, CCY Chung, PHY Yang, W Lee, SL Chan, GCF Tam, PKH Lau, YL Tang, SM Yeung, KS Chung, BHY	2020	53
Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis Journal:Frontiers in Genetics	CHAU, FTJ LEE, M Chui, MCM YU, HC Fung, LF Mak, CCY Chau, SKC Siu, KK Hung, J Yeung, KS Kwong, KY O'Callaghan, C Lau, YL Lee, DCW Chung, BHY Lee, SL	2022	4
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, KS Chung, BHY Choufani, S Mok, MYT Wong, WL MAK, CCY Yang, W Lee, PPW Wong, WHS Chen, YA Grafodatskaya, D Wong, RMS Lau, WCS Chan, TM Weksberg, R Lau, YL	2017	137
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, KS Choufani, S Chen, YA Grafodatskaya, D Lee, PPW Yang, W Weksberg, R Lau, YL Chung, BHY	2013	33
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	61
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	56
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, ACY Chan, MCY Fung, JLF Yu, MHC Mak, CCY Tsang, MHY Lee, M Yeung, KS Chung, BHY	2019	62
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	67
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	40
Identification of epigenetic alterations in imprinting growth disorders Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting	Wong, WL Chu, WY Yeung, KS Mak, CCY Wong, KY Li, RHW Tang, MHY Chung, BHY	2014	24
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	75
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES) Journal:BMC Medical Genomics	Leung, KC Mak, CCY Fung, LF Wong, WHS Tsang, HY Yu, HC Pei, LCS Yeung, KS Mok, TKG Lee, CP Hui, PW Tang, MHY Chan, YK Liu, APY Yang, W Sham, PC Kan, SYA Chung, BHY	2018	111
Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction Journal:Circulation: Genomic and Precision Medicine	Ma, ACH Mak, CCY Yeung, KS Pei, SLC Ying, D YU, MHC Hasan, KMM Chen, X Chow, PC Cheung, YF Chung, BHY	2020	33
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, MHY Chiu, ATG Kwong, BMH Rui, LIANG Yu, MHC Yeung, KS Ho, WHL Mak, CCY Leung, GKC Muntoni, F Chung, BHY Chan, HSS	2019	45
Mutation in PIK3CA leading to developmental mosaic disorders Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2015	Yeung, KS Leung, GKC Wong, WL Li, CH Choi, KY Kuong, EEYL Chow, W To, MKT Ip, JKJ Chow, CP Chan, GCF Chung, BHY	2015	127

Showing results 32 to 51 of 78 < previous next >