| 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 |
| 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, 1-10, 2018 | 43 | 2018 |
| Application of Flow Cytometry in the Diagnostics Pipeline of Primary Immunodeficiencies Underlying Disseminated Talaromyces marneffei Infection in HIV … PP Lee, M Lao-Araya, J Yang, KW Chan, H Ma, LC Pei, L Kui, H Mao, ... Frontiers in immunology 10, 2189, 2019 | 42 | 2019 |
| 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 |
| 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 |
| 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 | 17 | 2020 |
| Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome K Rethanavelu, JLF Fung, JFT Chau, SLC Pei, CCY Chung, CCY Mak, ... American Journal of Medical Genetics Part A 182 (2), 279-288, 2020 | 16 | 2020 |
| NLRP3 inflammasome contributes to host defense against Talaromyces marneffei infection H Ma, JFW Chan, YP Tan, L Kui, CC Tsang, SLC Pei, YL Lau, PCY Woo, ... Frontiers in Immunology 12, 760095, 2021 | 8 | 2021 |
| 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 | 8 | 2020 |
| Genetics and mechanism of ciliopathies SLC Pei, BHY Chung Frontiers in Genetics 13, 1067168, 2022 | | 2022 |
