Clinical Genetics

*暫時只提供英文內容

Researchers

• Dr LUK Ho-ming, Chief of Service (ORCID)
• Dr Shirley CHENG Sze-wing, Consultant (ORCID)
• Dr Stephanie HO, Consultant (ORCID)

Research Areas

• Rare diseases
• Clinical genetics and genomics
• Prenatal genetics
• Paediatric genetics
• Adult genetics

Selected Publications

• Chu ATW, Chung CCY, Luk HM, Cheng SSW, et al. The clinical utility of genome sequencing is multi-dimensional: experience from the Hong Kong Genome Project. Commun Med (Lond). 2026;6(1):174. Published 2026 Feb 20. doi:10.1038/s43856-026-01441-9
• Cheng SSW, Cheung SSL, Ko TC, Lee TL, Yam JCS, Luk HM. Spectrum of inherited eye disorders at Hong Kong Children's Hospital: insights into the local genetic landscape and experience with ocular genetic services. Hong Kong Med J. 2025;31(4):287-295. doi:10.12809/hkmj2412298
• Chan JCK, Siu LLP, Ho SKL, Cheng SSW, Luk HM. Familial SIN3A-associated Witteveen-Kolk syndrome in a Chinese family with prominent ectodermal dysplasia, progeroid appearance, and early onset diabetes mellitus. Clin Dysmorphol. 2025;34(4):142-146. doi:10.1097/MCD.0000000000000531
• Ng HY, Ma W, Lam WJ, Luk HM, Cheng SSW, Ho S, et al. Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases. HGG Adv. 2025;6(3):100469. doi:10.1016/j.xhgg.2025.100469
• Au CWM, Luk HM, Ho S, Cheng SW, et al. Fragile X syndrome: genetic and clinical profile in the Hong Kong Chinese population. Hong Kong Med J. 2025;31(3):199-207. doi:10.12809/hkmj2411942
• Coppens S, Deconinck N, Sullivan P, et al. Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum. Ann Neurol. 2025;97(4):611-628. doi:10.1002/ana.27087
• Ivaniuk A, Anselm IA, Bowen A, Luk HM, et al. Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey. Neurology. 2025;104(4):e209779. doi:10.1212/WNL.0000000000209779
• Ngan OMY, Fung CW, Kwok MK, Luk HM, et al. "Using dried blood spots beyond newborn screening - is Hong Kong ready?": navigating the intersection of innovation readiness, privacy concerns, and Chinese parenting culture. BMC Public Health. 2024;24(1):2973. Published 2024 Oct 26. doi:10.1186/s12889-024-20365-4
• Kwok SY, Ho S, Shih FY, Cheng SSW, Luk HM, et al. Molecular autopsy in Chinese sudden cardiac death in the young. Am J Med Genet A. 2024;194(11):e63797. doi:10.1002/ajmg.a.63797
• Ho SKL, Ng SYL, Yung TK, Cheng SSW, Luk HM, et al. Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers. Am J Med Genet A. 2024;194(9):e63657. doi:10.1002/ajmg.a.63657