Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept
Lee, Mianne, Kwong, Anna K Y, Chui, Martin M C, Chau, Jeffrey F T, Mak, Christopher C Y, Au, Sandy L K, Lo, Hei Man, Chan, Kelvin Y K, Yépez, Vicente A, Gagneur, Julien, Kan, Anita S Y, Chung, Brian H Y
Published in Npj genomic medicine (28.12.2022)
Published in Npj genomic medicine (28.12.2022)
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Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review
Wong, G. Y., Hung, Zita G. K., Ho, Karin K. H., Ling, S. C., Fung, Jasmine L. F., Lee, Mianne, Chau, Jeffrey F. T., Ha, S. Y., Chung, Brian H. Y.
Published in Pediatric blood & cancer (01.04.2023)
Published in Pediatric blood & cancer (01.04.2023)
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Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome
Rethanavelu, Kavitha, Fung, Jasmine L. F., Chau, Jeffrey F. T., Pei, Steven L. C., Chung, Claudia C. Y., Mak, Christopher C. Y., Luk, Ho M., Chung, Brian H. Y.
Published in American journal of medical genetics. Part A (01.02.2020)
Published in American journal of medical genetics. Part A (01.02.2020)
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Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs
Chung, Claudia C.Y., Leung, Gordon K.C., Mak, Christopher C.Y., Fung, Jasmine L.F., Lee, Mianne, Pei, Steven L.C., Yu, Mullin H.C., Hui, Vivian C.C., Chan, Joshua C.K., Chau, Jeffrey F.T., Chan, Marcus C.Y., Tsang, Mandy H.Y., Wong, Wilfred H.S., Tung, Joanna Y.L., Lun, Kin Shing, Ng, Yiu Ki, Fung, Cheuk Wing, Wong, Mabel S.C., Wong, Rosanna M.S., Lau, Yu Lung, Chan, Godfrey C.F., Lee, So Lun, Yeung, Kit San, Chung, Brian H.Y.
Published in The Lancet regional health. Western Pacific (01.08.2020)
Published in The Lancet regional health. Western Pacific (01.08.2020)
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