Search Results - "Chau, Jeffrey F.T."

Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs by 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.

“…Rapid whole-exome sequencing (rWES) offers the potential for early diagnosis-predicated precision medicine. Previous evidence focused predominantly on infants…”
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Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review by 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.

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Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome by 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.

“…Alström syndrome (AS) is a monogenic syndromic ciliopathy caused by mutations in the ALMS1 (Alström Syndrome 1) gene. A total of 21 subjects with AS from 20…”
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Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept by 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.

“…RNA sequencing (RNA-seq) is emerging in genetic diagnoses as it provides functional support for the interpretation of variants of uncertain significance…”
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