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Human Mutation|November 10, 2015
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand MalformationShen Gu, Jennifer E Posey, Bo Yuan, et al.Parkinsonism & Related Disorders|January 24, 2019
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35Jasmine L F Fung, Mandy H Y Tsang, Gordon K C Leung, et al.Journal of Genetic Counseling|May 3, 2021
Understanding and perception of direct-to-consumer genetic testing in Hong KongVivian C C Hui, H C Li, Josh H K Chow, et al.Human Genomics|October 5, 2023
Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variantsMianne Lee, Adrian C Y Lui, Joshua C K Chan, et al.American Journal of Medical Genetics. Part A|February 18, 2022
Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome-An unexpected diagnosis of androgenetic chimera and its clinical implicationsPui-Tak Yu, Wendy Shu, Sau-Lan Mok, et al.American Journal of Medical Genetics. Part A|July 22, 2014
Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocationK S Yeung, Y Y Chee, H M Luk, et al.Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research|May 14, 2022
Evaluating the Health-Related Quality of Life of the Rare Disease Population in Hong Kong Using EQ-5D 3-LevelYvette N C Ng, Nicole Y T Ng, Jasmine L F Fung, et al.The Lancet Regional Health. Western Pacific|June 7, 2023
Socio-economic costs of rare diseases and the risk of financial hardship: a cross-sectional studyClaudia C Y Chung, Nicole Y T Ng, Yvette N C Ng, et al.American Journal of Medical Genetics. Part A|May 2, 2013
Expanded Prader-Willi syndrome due to chromosome 15q11.2-14 deletion: report and a review of literatureAnthony P Y Liu, Wing Fai Tang, Elizabeth T Lau, et al.Nature Medicine|November 27, 2025
Determining the value of genomics in healthcareIlias Goranitis, Robin Z Hayeems, Hadley Stevens Smith, et al.Pageof 8