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

Autor: 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.

Publikováno v: In The Lancet Regional Health - Western Pacific August 2020 1

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes.

Autor: Yeung, Kit San¹ (AUTHOR), Yu, Florrie N. Y.² (AUTHOR), Fung, Cheuk Wing³ (AUTHOR), Wong, Sheila³ (AUTHOR), Lee, Hencher H. C.⁴ (AUTHOR), Fung, Sharon T. H.⁵ (AUTHOR), Fung, Genevieve P. G.⁶ (AUTHOR), Leung, Kwok Yin² (AUTHOR), Chung, Wai Hang⁷ (AUTHOR), Lee, Yun Ting⁸ (AUTHOR), Ng, Vivian K. S.⁹ (AUTHOR), Yu, Mullin H. C.¹ (AUTHOR), Fung, Jasmine L. F.¹ (AUTHOR), Tsang, Mandy H. Y.¹ (AUTHOR), Chan, Kelvin Y. K.^10,11 (AUTHOR), Chan, Sophelia H. S.¹ (AUTHOR) sophehs@hku.hk, Kan, Anita S. Y.^10,11 (AUTHOR) kansya@hku.hk, Chung, Brian H. Y.¹ (AUTHOR) bhychung@hku.hk

Publikováno v: Molecular Genetics & Genomic Medicine. Jul2020, Vol. 8 Issue 7, p1-7. 7p.

Genome-Wide DNA Methylation Analysis of Chinese Patients with Systemic Lupus Erythematosus Identified Hypomethylation in Genes Related to the Type I Interferon Pathway.

Autor: Yeung, Kit San¹, Chung, Brian Hon-Yin¹ bhychung@hku.hk, Choufani, Sanaa², Mok, Mo Yin^3,4, Wong, Wai Lap¹, Mak, Christopher Chun Yu¹, Yang, Wanling¹, Lee, Pamela Pui Wah¹, Wong, Wilfred Hing Sang¹, Chen, Yi-an², Grafodatskaya, Daria², Wong, Raymond Woon Sing³, Lau, Chak Sing³, Chan, Daniel Tak Mao³, Weksberg, Rosanna^2,5,6, Lau, Yu-Lung¹

Publikováno v: PLoS ONE. 1/13/2017, Vol. 12 Issue 1, p1-17. 17p.

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