| Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ... Cell 180 (3), 568-584. e23, 2020 | 1917 | 2020 |
| A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis JLF Fung, HC Mullin, S Huang, CCY Chung, MCY Chan, S Pajusalu, ... NPJ genomic medicine 5 (1), 1-11, 2020 | 65 | 2020 |
| 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, 100001, 2020 | 54 | 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, HC Mullin, ... BMC medical genomics 11 (1), 93, 2018 | 49 | 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 | 44 | 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, 2017 | 43 | 2017 |
| Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese MHC Yu, MHY Tsang, S Lai, MSP Ho, ML Donald, B Willis, AKY Kwong, ... NPJ genomic medicine 4 (1), 1-11, 2019 | 39 | 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, 0 | 34 | |
| Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies GKC Leung, HM Luk, VHM Tang, WW Gao, CCY Mak, HC Mullin, ... Scientific reports 8 (1), 2421, 2018 | 24 | 2018 |
| 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 | 19 | 2021 |
| Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients MHY Tsang, ATG Chiu, BMH Kwong, R Liang, MHC Yu, KS Yeung, ... Molecular genetics & genomic medicine 8 (5), e1205, 2020 | 18 | 2020 |
| The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes KS Yeung, FNY Yu, CW Fung, S Wong, HCH Lee, STH Fung, GPG Fung, ... Molecular Genetics & Genomic Medicine, e1229, 2020 | 13 | 2020 |
| Delineation of molecular findings by whole exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population MHY Tsang, AKY Kwong, K Lok-San Chan, JLF Fung, MHC Yu, CCY Mak, ... | 12 | 2020 |
| Megaconial congenital muscular dystrophy: same novel homozygous mutation in CHKB gene in two unrelated Chinese patients SHS Chan, RSL Ho, PL Khong, BHY Chung, MHY Tsang, HC Mullin, ... Neuromuscular Disorders, 2019 | 12 | 2019 |
| A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35 JLF Fung, MHY Tsang, GKC Leung, KS Yeung, CCY Mak, CW Fung, ... Parkinsonism & Related Disorders, 2019 | 11 | 2019 |
| Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction ACH Ma, CCY Mak, KS Yeung, SLC Pei, D Ying, MHC Yu, KMM Hasan, ... Circulation: Genomic and Precision Medicine 13 (6), e003000, 2020 | 10 | 2020 |
| Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese JFT Chau, MHC Yu, MMC Chui, CCW Yeung, AWC Kwok, X Zhuang, ... NPJ genomic medicine 7 (1), 1-9, 2022 | 9 | 2022 |
| Evaluating the clinical utility of genome sequencing for cytogenetically balanced chromosomal abnormalities in prenatal diagnosis MHC Yu, JFT Chau, SLK Au, HM Lo, KS Yeung, JLF Fung, CCY Mak, ... Frontiers in genetics 11, 620162, 2021 | 9 | 2021 |
| Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data MHC Yu, CCY Mak, JLF Fung, M Lee, MHY Tsang, JFT Chau, ... Journal of Human Genetics, 1-5, 2020 | 5 | 2020 |
| Functional evaluation and genetic landscape of children and young adults referred for assessment of bronchiectasis JFT Chau, M Lee, MMC Chui, MHC Yu, JLF Fung, CCY Mak, CSK Chau, ... Frontiers in Genetics 13, 933381, 2022 | 3 | 2022 |
