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NPJ Genomic Medicine|September 23, 2020
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysisJasmine L F Fung, Mullin H C Yu, Shushu Huang, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 24, 2019
Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong KongShirley S W Cheng, Kelvin Y K Chan, Kelphen K P Leung, et al.
NPJ Genomic Medicine|December 28, 2022
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-conceptMianne Lee, Anna K Y Kwong, Martin M C Chui, et al.
Cell Reports|October 14, 2025
Integrated genomic and transcriptomic profiling of glioblastoma reveals ecDNA-driven heterogeneity and microenvironmental reprogrammingWenshu Tang, Wing Lun Lee, Cario W S Lo, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 22, 2019
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong KongKris P T Yu, Ho-Ming Luk, Gordon K C Leung, et al.
HGG Advances|June 18, 2025
Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseasesHau-Yee Ng, Wei Ma, Wai-Kei J Lam, et al.
Plos One|February 8, 2014
Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong KongAnita S Y Kan, Elizabeth T Lau, W F Tang, et al.
European Journal of Medical Genetics|January 2, 2014
A prenatal case of split-hand malformation associated with 17p13.3 triplication - a dilemma in genetic counselingH M Luk, Vincent C H Wong, Ivan F M Lo, et al.
Plos One|October 22, 2014
The clinical impact of chromosomal microarray on paediatric care in Hong KongVictoria Q Tao, Kelvin Y K Chan, Yoyo W Y Chu, et al.
European Journal of Medical Genetics|April 12, 2014
Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: implications in transitional careAnthony P Y Liu, Pak-Cheong Chow, Pamela P W Lee, et al.
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