A fatal case of COQ7‐associated primary coenzyme Q10 deficiency

by Anna K.‐Y. Kwong, Annie T.‐G. Chiu, Mandy H.‐Y. Tsang, Kin‐Shing Lun, Richard J. T. Rodenburg, Jan Smeitink, Brian H.‐Y. Chung, Cheuk‐Wing Fung
Published 2019-05-01

Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients

by Mandy H. Y. Tsang, Annie T. G. Chiu, Bernard M. H. Kwong, Rui Liang, Mullin H. C. Yu, Kit‐San Yeung, Wetor H. L. Ho, Christopher C. Y. Mak, Gordon K. C. Leung, Steven L. C. Pei, Jasmine L. F. Fung, Virginia C. N. Wong, Francesco Muntoni, Brian H. Y. Chung, Sophelia H. S. Chan
Published 2020-05-01

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

by Kit San Yeung, Florrie N. Y. Yu, Cheuk Wing Fung, Sheila Wong, Hencher H. C. Lee, Sharon T. H. Fung, Genevieve P. G. Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K. S. Ng, Mullin H. C. Yu, Jasmine L. F. Fung, Mandy H. Y. Tsang, Kelvin Y. K. Chan, Sophelia H. S. Chan, Anita S. Y. Kan, Brian H. Y. Chung
Published 2020-07-01

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

by Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, Wilfred H S Wong, Mandy H Y Tsang, Mullin H C Yu, Steven L C Pei, K S Yeung, Gary T K Mok, C P Lee, Amelia P W Hui, Mary H Y Tang, Kelvin Y K Chan, Anthony P Y Liu, Wanling Yang, P C Sham, Anita S Y Kan, Brian H Y Chung
Published 2018-10-01

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

by Mandy H.Y. Tsang, Anna K.Y. Kwong, Kate L.S. Chan, Jasmine L.F. Fung, Mullin H.C. Yu, Christopher C.Y. Mak, Kit-San Yeung, Richard J.T. Rodenburg, Jan A.M. Smeitink, Rachel Chan, Thomas Tsoi, Joannie Hui, Shelia S.N Wong, Shuk-Mui Tai, Victor C.M. Chan, Che-Kwan Ma, Sharon T.H. Fung, Shun-Ping Wu, W.K. Chak, Brian H.Y. Chung, Cheuk-Wing Fung
Published 2020-09-01

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

by Claudia C.Y. Chung, Gordon K.C. Leung, Christopher C.Y. Mak, Jasmine L.F. Fung, Mianne Lee, Steven L.C. Pei, Mullin H.C. Yu, Vivian C.C. Hui, Joshua C.K. Chan, Jeffrey F.T. Chau, Marcus C.Y. Chan, Mandy H.Y. Tsang, Wilfred H.S. Wong, Joanna Y.L. Tung, Kin Shing Lun, Yiu Ki Ng, Cheuk Wing Fung, Mabel S.C. Wong, Rosanna M.S. Wong, Yu Lung Lau, Godfrey C.F. Chan, So Lun Lee, Kit San Yeung, Brian H.Y. Chung
Published 2020-08-01