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Showing results 29 to 48 of 77 < previous next >

Title	Author(s)	Issue Date
De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features Proceeding/Conference:European Human Genetics Conference, 2019	Gordon, CT Leung, KC Mak, CCY Doherty, D Lin, A Vegas, N Cho, M Dimartino, C Weisfeld-Adams, J Lessel, D Joss, S Li, C Gonzaga-Jauregui, C Zarate, Y Troyer, C Kant, S Leung, G Barone, A Yang, S Bend, E Roadhouse, C Zahir, F Stolerman, E Bienvenu, T Orenstein, N Dobyns, W Shieh, J Waggoner, D Gripp, K Parker, M Stoler, J Lyonnet, S Cormiere-Daire, V Viskochil, D Hoffman, T Amiel, J Chung, BHY	2019
De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients Journal:npj Genomic Medicine	MAK, CCY Chow, PC Liu, APY Chan, YK Chu, WY Mok, TKG LEUNG, KC YEUNG, KS Chau, AKT Lowther, C Scherer, SW Marshall, CR Bassett, AS Chung, BHY	2016
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, MHY Kwong, AKY Chan, KLS Fung, JLF YU, MHC Mak, CCY Yeung, KS Rodenburg, RJT Smeitink, JAM Chan, R Tsoi, T Hui, J Wong, SSN Tai, SM Chan, VCM Ma, CK Fung, STH Wu, SP Chak, WK Chung, BHY Fung, CW	2020
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, MCM CHAU, FTJ YU, MHC Fung, JLF LEE, M Mak, CCY Tsang, MHY Chan, JCK CHUNG, CCY Yeung, KS Chung, BHY	2020
Diagnostic outcome of whole exome sequencing in Hong Kong familes with autism spectrum disorder 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	Chan, MCY Mak, CCY Tsang, HY Yeung, KS Fung, JLF Yu, MHC Lee, MMY Chung, CCY Lee, SL Chung, BHY	2019
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept Journal:npj Genomic Medicine	Lee, M Kwong, KY Chui, MCM CHAU, FTJ Mak, CCY Au, LKS Lo, HM Chan, YK Yepez, VA Gagneur, J Kan, SYA Chung, BHY	2022
Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients Journal:Molecular Genetics & Genomic Medicine	TSANG, HY Chiu, ATG Kwong, BMH LIANG, R Yu, MHC YEUNG, K-S Ho, WHL MAK, CCY LEUNG, GKC PEI, SLC Fung, JLF Wong, VCN Francesco, M Chung, BHY Chan, SHS	2020
Evaluating High‐Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses Journal:Journal of the American Heart Association Cardiovascular and Cerebrovascular Disease	Chui, MMC Mak, CCY Yu, MHC Wong, SYY Lun, KS Yung, TC Kwong, AKY Chow, PC Chung, BHY	21-Feb-2023
Evaluating the clinical utility of genome sequencing for cytogenetically balanced chromosomal abnormalities in prenatal diagnosis Proceeding/Conference:Health Research Symposium 2021	Yu, MHC Chau, FTJ Au, SLK Lo, HM Yeung, KS Fung, JLF Mak, CCY Chung, CCY Chan, KYK Chung, BHY Kan, ASY	2021
Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis Journal:Frontiers in Genetics	YU, MHC CHAU, JFT Au, SLK Lo, HM Yeung, KS Fung, JLF Mak, CCY CHUNG, CCY Chan, KYK Chung, BHY Kan, ASY	2021
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, CY Yeung, KS Yu, HC Mak, CCY Fung, LF Leung, GKC Chan, GCF Lee, SL Chung, BHY	2019
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
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
Exome sequencing in paediatric patients with movement disorders [accepted - OJRD-D-20-00713R2] Journal:Orphanet Journal of Rare Diseases	Kwong, AKY TSANG, MHY Fung, JLF Mak, CCY Chan, KLS Rodenburg, RJT Lek, M Huang, S Pajusalu, S Yau, MM Tsoi, C Fung, S Liu, KT Ma, CK Wong, S Yau, EKC Tai, SM Fung, ELW Wu, NSP Tsung, LY Smeitink, J Chung, BHY Fung, CW	2021
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
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
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
Genetic diagnosis of drug-resistant epilepsy by whole exome sequencing and chromosomal array in Hong Kong Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians cum Hong Kong-Guangdong-Shanghai-Chongqing Paediatric Exchange Meeting, 2016	Tsang, HY Leung, KC Mak, CCY Chu, YWY Miu, X Lee, SL Chan, GCF Yung, AWY Chung, BHY	2016
Genetic diagnosis of early onset epilepsy by whole exome sequencing and chromosomal array in Hong Kong Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	Tsang, HY Leung, KC Mak, CCY Chu, WY Mu, X Lee, SL Chan, GCF Yung, AWY Chung, BHY	2016
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong Journal:American Journal of Medical Genetics Part C: Seminars in Medical Genetics	Yu, KPT Luk, HM Leung, KC Mak, CCY Cheng, SSW Hau, EWL Chan, DKH Lam, STS Tong, TMF Chung, BHY Lo, FMI	2019

Showing results 29 to 48 of 77 < previous next >