| 22q11. 2 deletion syndrome in diverse populations P Kruszka, YA Addissie, DE McGinn, AR Porras, E Biggs, M Share, ... American Journal of Medical Genetics Part A 173 (4), 879-888, 2017 | 140 | 2017 |
| Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism KS Yeung, WWY Tso, JJK Ip, CCY Mak, GKC Leung, MHY Tsang, D Ying, ... Molecular autism 8, 1-11, 2017 | 110 | 2017 |
| Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa T Van Damme, T Gardeitchik, M Mohamed, S Guerrero-Castillo, ... The American Journal of Human Genetics 100 (2), 216-227, 2017 | 105 | 2017 |
| Prevalence of silent kidney disease in Hong Kong: the screening for Hong Kong Asymptomatic Renal Population and Evaluation (SHARE) program PKT Li, BCH Kwan, CB Leung, TH Kwan, KM Wong, SL Lui, W Tsang, ... Kidney International 67, S36-S40, 2005 | 94 | 2005 |
| A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis JLF Fung, MHC Yu, S Huang, CCY Chung, MCY Chan, S Pajusalu, ... NPJ genomic medicine 5 (1), 37, 2020 | 61 | 2020 |
| SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported individuals BG Ng, P Sosicka, S Agadi, M Almannai, CA Bacino, R Barone, LD Botto, ... Human mutation 40 (7), 908-925, 2019 | 60 | 2019 |
| Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs CCY Chung, GKC Leung, CCY Mak, JLF Fung, M Lee, SLC Pei, ... The Lancet Regional Health–Western Pacific 1, 2020 | 50 | 2020 |
| Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES) GKC Leung, CCY Mak, JLF Fung, WHS Wong, MHY Tsang, MHC Yu, ... BMC Medical Genomics 11 (1), 1-10, 2018 | 43 | 2018 |
| MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis CCY Mak, D Doherty, AE Lin, N Vegas, MT Cho, G Viot, C Dimartino, ... Brain 143 (1), 55-68, 2020 | 41 | 2020 |
| Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion ATG Chiu, SLC Pei, CCY Mak, GKC Leung, MHC Yu, SL Lee, M Vreeburg, ... Clinical Genetics 93 (4), 880-890, 2018 | 40 | 2018 |
| Genome-wide DNA methylation analysis of Chinese patients with systemic lupus erythematosus identified hypomethylation in genes related to the type I interferon pathway KS Yeung, BHY Chung, S Choufani, MY Mok, WL Wong, CCY Mak, ... PLoS One 12 (1), e0169553, 2017 | 39 | 2017 |
| Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese MHC Yu, MHY Tsang, S Lai, MSP Ho, DML Tse, B Willis, AKY Kwong, ... NPJ Genomic Medicine 4 (1), 18, 2019 | 38 | 2019 |
| Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy MHY Tsang, GKC Leung, ACC Ho, KS Yeung, CCY Mak, SLC Pei, ... Epilepsia Open 4 (1), 63-72, 2019 | 32 | 2019 |
| Hong Kong Society of Nephrology. Prevalence of silent kidney disease in Hong Kong: the screening for Hong Kong Asymptomatic Renal Population and Evaluation (SHARE) program PK Li, BC Kwan, CB Leung, TH Kwan, KM Wong, SL Lui, WK Tsang, ... Kidney Int 94, S36-S40, 2005 | 24 | 2005 |
| Integrating functional analysis in the next-generation sequencing diagnostic pipeline of RASopathies GKC Leung, HM Luk, VHM Tang, WW Gao, CCY Mak, MHC Yu, WL Wong, ... Scientific Reports 8 (1), 2421, 2018 | 23 | 2018 |
| Exome sequencing in paediatric patients with movement disorders AKY Kwong, MHY Tsang, JLF Fung, CCY Mak, KLS Chan, ... Orphanet Journal of Rare Diseases 16 (1), 1-12, 2021 | 21 | 2021 |
| Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population MHC Yu, MCY Chan, CCY Chung, AWT Li, CYW Yip, CCY Mak, ... PLoS Genetics 17 (2), e1009323, 2021 | 18 | 2021 |
| Cell lineage-specific genome-wide DNA methylation analysis of patients with paediatric-onset systemic lupus erythematosus KS Yeung, TL Lee, MY Mok, CCY Mak, W Yang, PCY Chong, PPW Lee, ... Epigenetics 14 (4), 341-351, 2019 | 18 | 2019 |
| A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality SHS Chan, N van Alfen, IJ Thuestad, J Ip, AOK Chan, C Mak, BHY Chung, ... Neuromuscular Disorders 28 (9), 750-756, 2018 | 18 | 2018 |
| CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis GKC Leung, D Ying, CCY Mak, XY Chen, W Xu, KS Yeung, WL Wong, ... Molecular genetics & genomic medicine 5 (1), 40-49, 2017 | 18 | 2017 |
