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Title	Author(s)	Issue Date
22q11.2 deletion syndrome in diverse populations Journal:American Journal of Medical Genetics Part A	Kruszka, P Addissie, YA McGinn, DE Porras, AR Biggs, E Share, M Crowley, TB Chung, BHY Mok, TKG MAK, CCY Muthukumarasamy, P Thong, MK Siriseria, ND Dissanayake, VHW Paththinige, CS Prabodha, LBL Mishra, R Shotelersuk, V Ekure, EN Sokunbi, OJ Kalu, N Ferreira, CR Duncan, JM Patil, SJ Jones, KL Kaplan, JD Abdul-Rahman, OA Uwineza, A Mutesa, L Moresco, A Obregon, MG Richieri-Costa, A Gil-da-Silva-Lopes, VL Adeyemo, AA Summar, M Zackai, EH McDonald-McGinn, DM Linguraru, MG Muenke, M	2017
A case of prenatal isolated talipes and 22q11.2 deletion syndrome-an important chromosomal disorder missed by noninvasive prenatal screening Journal:Prenatal Diagnosis	Cheung, KW Lai, WSC Mak, CCY Hui, PW Chung, BHY Kan, SYA	2018
A DYNC1H1 mutation causes a lower extremity predominance spinal muscular atrophy Proceeding/Conference:Annual Scientific Meeting of the Asian and Oceanian Myology Center, AOMC 2016	Chan, SHS Chung, BHY Mak, CCY Kamsteeg, EJ	2016
A feasibility study for rapid Whole-Exome Sequencing for paediatric genetic disorders in Hong Kong Proceeding/Conference:European Human Genetics Conference, ESGH 2017	Chung, BHY Leung, G Mak, CCY Yeung, K Lee, S Lau, YL Chan, GCF	2017
A novel role of CC2D1A in human heterotaxy and ciliary dysfunction 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)	Mak, CCY Ma, ACH Yeung, KS Pei, LCS Ying, D Yu, HC Hasan, KMM Chen, X Cheung, YF Chung, BHY	2020
A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality Journal:Neuromuscular Disorders	Chan, HSS Van Alfen, N Thuestad, IJ Ip, J Chan, AOK MAK, CCY Chung, BHY Aad, VERRIPS Erik-Jan, KAMSTEEG	2018
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35 Journal:Parkinsonism & Related Disorders	Fung, LF TSANG, HY Leung, KC Yeung, KS MAK, CCY Fung, CW Chan, HSS YU, HC Chung, BHY	2019
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis Journal:npj Genomic Medicine	Fung, JLF YU, MHC Huang, S CHUNG, CCY Chan, MCY Pajusalu, S Mak, CCY Hui, VCC TSANG, MHY Yeung, KS Lek, M Chung, BHY	2020
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population Journal:PLoS Genetics	YU, MHC Chan, MCY CHUNG, CCY Li, AWT Yip, CYW Mak, CCY CHAU, JFT LEE, M Fung, JLF TSANG, MHY Chan, JCK Wong, WHS Yang, J Chui, WCM Chung, PHY Yang, W Lee, SL Chan, GCF Tam, PKH Lau, YL Tang, CSM Yeung, KS Chung, BHY Editor(s):Limdi, N	2021
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population (e-poster) 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 Chan, MCY CHUNG, CCY Li, AWT Yip, CYW Mak, CCY CHAU, FTJ LEE, M Fung, LF TSANG, HY Chan, JCK Wong, WHS Yang, J Chui, WCM Chung, PHY Yang, W Lee, SL Chan, GCF Tam, PKH Lau, YL Tang, SM Yeung, KS Chung, BHY	2020
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data Journal:Journal of Human Genetics	Yu, MHC Mak, CCY Fung, JLF Lee, M Tsang, MHY Chau, JFT Chung, PHY Yang, W Chan, GCF Lee, SL Lau, YL Tam, PKH Tang, CZM Yeung, KS Chung, BHY	2021
Actionable secondary findings in Hong Kong Chinese based on 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, HC Mak, CCY Fung, LF LEE, M TSANG, HY CHAU, FTJ Chung, PHY Yang, W Chan, GCF Lee, SL Lau, YL Tam, PKH Tang, SM Yeung, KS Chung, BHY	2020
Analytical validity and clinical utility of whole-genome sequencing for cytogenetically balanced chromosomal abnormalities in prenatal diagnosis: abridged secondary publication Journal:Hong Kong Med J	Chung, BHY Kan, SYA Chan, YK Yang, W Tang, HYM Mak, CCY	2022
Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory Journal:Healthcare	Lai, HTT Lau, ETK Lau, YTE Lo, HM Chan, YK Cheung, KW Ma, TWL Leung, WC Kong, CW Shu, W So, PL Kwong, KY Mak, CCY Lee, M Chui, MCM Chung, BHY Kan, SYA	2022
Application of whole exome sequencing in neuromuscular disorders patients in Hong Kong Proceeding/Conference:2nd Joint Annual Research & Scientific Meeting 2018 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association and Hong Kong College of Paediatric Nursing	TSANG, HY Kwong, BMH Pei, LCS Leung, KC Yeung, KS MAK, CCY YU, HC Fung, LF Liang, R Chung, BHY Chan, HSS	2018
The Application of Whole-Exome Sequencing in Diagnosis Pediatric Rare Disease in Hong Kong Journal:North American Journal of Medicine and Science	Mak, CCY Ying, D LEUNG, KC Lee, PPW Yang, J Yang, W Chung, BHY Lau, YL	2014
Asthma subtypes and risk of cardiovascular disease: A Mendelian randomization study Journal:Pediatric Allergy and Immunology	Ng, NYT Zhao, JE Mak, CCY Lee, SL Chung, BHY	1-Jul-2023
Cell Lineage-specific Genome-wide DNA Methylation Analysis of Patients with Paediatric-onset Systemic Lupus Erythematosus Journal:Epigenetics	Yeung, KS Lee, TL Mok, MY Mak, CCY Yang, W Chong, PCY Lee, PPW Ho, MHK Choufani, S Lau, CS Lau, YL Weksberg, R Chung, BHY	2019
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis Journal:Molecular Genetics & Genomic Medicine	LEUNG, KC Ying, D MAK, CCY Chen, XY Xu, W YEUNG, KS Wong, WL Chu, WY Mok, TKG Chau, SKC McLuskey, J Ong, WPT Leong, HY Chan, YK Yang, W Chen, JH Li, AM Sham, PC Lau, YL Chung, BHY Lee, SL	2017
CFTR: I1023R is a rare but recurrent disease-causing mutation found in Chinese patients with cystic fibrosis Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2014	Leung, KC Mak, CCY Chen, YX Chau, CSK Ying, D Chu, WY Li, AM Yang, W Lau, YL Chan, KYK Chen, JH Lee, SL Chung, BHY	2014

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