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Title	Author(s)	Issue Date	Views
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 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
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies Journal:Scientific Reports	Leung, KC Luk, HM Tang, HMV Gao, W MAK, CCY YU, HC Wong, WL Chu, WY Yang, W Wong, WHS Ma, CH Leung, AYH Jin, D Chan, YK Allanson, J Lo, FMI Chung, BHY	2018	100
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Journal:Brain	Mak, CCY Doherty, D Lin, AE Vegas, N Cho, MT Viot, G Dimartino, C Weisfeld-Adams, JD Lessel, D Joss, S Li, C Gonzaga-Jauregui, C Zarate, YA Ehmke, N Horn, D Troyer, C Kant, SG Lee, Y Ishak, GE Leung, G Barone Pritchard, A Yang, S Bend, EG Filippini, F Roadhouse, C Lebrun, N Mehaffey, MG Martin, P-M Apple, B Millan, F Puk, O Hoffer, MJV Henderson, LB McGowan, R Wentzensen, IM Pei, S Zahir, FR YU, M Gibson, WT Senab, A Steeves, M Murrell, JR Luettgen, S Francisco, E Strom, TM Amlie-Wolf, L Kaindl, AM Wilson, WG Halbach, S Basel-Salmon, L Lev-El, N Denecke, J Vissers, LELM Radtke, K Chelly, J Zackai, E Friedman, JM Bamshad, MJ Nickerson, DA Reid, RR Devriendt, K Chae, JH Stolerman, E McDougall, C Powis, Z Bienvenu, T Tan, TY Orenstein, N Dobyns, WB Shieh, JT Choi, M Waggoner, D Gripp, KW Parker, MJ Stoler, J Lyonnet, S Cormier-Daire, V Viskochil, D Hoffman, TL Amiel, J Chung, BHY Gordon, CT University of Washington Center for Mendelian Genomics	2020	49
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
Mutations in ATP6V1E1 or ATP6V1A cause AR cutis laxia Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	van Damme, T Gardenchik, T Mohamed, M Gucerrero-Castillo, S Freisinger, P Guillemyn, B Kariminejad, A Dalloyaux, D van Kraaij, S Lefeber, DJ Syx, D Steyaert, W De Rycke, R Hotschen, A Kamstccg, EJ Wong, SY van Scherpenzeei, M Jamali, P Brandt, U Nijtmans, L Korenke, C Chung, BHY Mak, CCY Hausser, I Kornak, U Fischer-Zirnsak, B Strom, TM Meitinger, T Alanay, Y Utine, GE Leung, PKC Ghadcri-Soli, S Coucke, P Symoens, S De Paepe, A Thiel, C Haack, TB Malfair, F Morava, E Callewaert, B	2016	45
Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa Journal:American Journal of Human Genetics	van Damme, T Gardeitchik, T Mohamed, M Guerrero-Castillo, S Freisinger, P Guillemyn, B Kariminejad, A Dalloyaux, D van Kraaij, S Lefeber, DJ Syx, D Steyaert, W DeRycke, R Hoischen, A Kamsteeg, EJ Wong, SY van Scherpenzeel, M Jamali, P Brandt, P Nijtmans, L Korenke, GC Chung, BHY MAK, CCY Hausser, I Kornak, U Fischer-Zirnsak, B Strom, TM Meitinger, T Alanay, Y Utine, GE Leung, KCP Ghaderi-Sohi, S Coucke, P Symoens, S De Paepe, A Thiel, C Haack, TB Malfait, F Morava, E Callewaert, B Wevers, RA	2017	83
Next generation sequencing in prenatal diagnosis Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017	Leung, GKC Mak, CCY Pei, SLC Tsang, MHY Yu, MHC Yeung, KS Mok, GTK Hui, APW Tang, MHY Chan, KYK Kan, SYA Chung, BHY	2017	52
Novel damaging mutations in CC2D1A suggest a role in human heterotaxy and ciliary dysfunction Proceeding/Conference:American Society of Human Genetics (ASHG) Virtual Meeting, 2020	Chung, BHY Ma, ACH Mak, CCY Yeung, KS Ding, J Pei, LCS Ying, D Chow, PC Yu, HC Hasan, KMM Chen, X Cheung, YF	2020	20
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion Journal:Clinical Genetics	Chiu, TA Pei, LCS MAK, CCY Leung, KC YU, HC Lee, SL Vreeburg, M Pfundt, R van der Burgt, I Kleefstra, T Frederic, TMT Nambot, S Faivre, L Bruel, AL Rossi, M Isidor, B Kury, S Cogne, B Besnard, T Willems, M Reijnders, MRF Chung, BHY	2018	132
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay Journal:Journal of Medical Genetics	Yeung, KS Ho, SP Lee, SL Kan, SYA Chan, YK Tang, MHY MAK, CCY Leung, KC So, PL Pfundt, R Marshall, CR Scherer, SW Choufani, S Weksberg, R Chung, BHY	2018	79
Perception of Hong Kong Undergraduate on Personalized Medicine, Pharmacogenomics and Genetic Testing Proceeding/Conference:Royal College of Paediatrics and Child Health (RCPCH) International Conference & the 9th Singapore Paediatric & Perinatal Annual Congress	Cheung, NYC Mak, CCY Fung, LF Chung, BHY	2021	21
Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome Journal:American Journal of Medical Genetics Part A	Rethanavelu, K Fung, JLF CHAU, JFT Pei, SLC CHUNG, CCY Mak, CCY Luk, HM Chung, BHY	2020	36
Prevalence of silent kidney disease in Hong Kong: The Screening for Hong Kong Asymptomatic Renal Population and Evaluation (SHARE) program Proceeding/Conference:Kidney International Supplement	Li, PKT Kwan, BCH Leung, CB Kwan, TH Wong, KM Lui, SL Tsang, WK Mak, CCY Mak, SK Yu, AWY Tang, S	2005	151
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese Journal:npj Genomic Medicine	YU, MHC TSANG, MHY Lai, S Ho, MSP Tse, DML Willis, B Kwong, AKY Chou, YY Lin, SP Quinzii, CM Hwu, WL Chien, YH Kuo, PL Chan, VCM Tsoi, C Chong, SC Rodenburg, RJT Smetinik, J Mak, CCY Yeung, KS Fung, LF Lam, W Hui, J Lee, NC Fung, CW Chung, BHY	2019	68
Reading NGS Test Report: What a clinician needs to know Proceeding/Conference:HA 2016 Commissioned Training Programme - Genetics in O&G	Chung, BHY Leung, KC Yeung, KS Mak, CCY	2016	18

Showing results 51 to 70 of 77 < previous next >