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

Preparing genomic revolution: Attitudes, clinical practice, and training needs in delivering genetic counseling in primary care in Hong Kong and Shenzhen, China

by Man Wai Cecilia Yu, Jasmine Lee Fong Fung, Amy Pui Pui Ng, Zhuo Li, Wang Lan, Claudia Ching Yan Chung, Yang Li, Ying Liu, Brian H. Y. Chung, William Chi Wai Wong
Published 2021-07-01

Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong.

by Anita S Y Kan, Elizabeth T Lau, W F Tang, Sario S Y Chan, Simon C K Ding, Kelvin Y K Chan, C P Lee, Pui Wah Hui, Brian H Y Chung, K Y Leung, Teresa Ma, Wing C Leung, Mary H Y Tang
Published 2014-01-01

The clinical impact of chromosomal microarray on paediatric care in Hong Kong.

by Victoria Q Tao, Kelvin Y K Chan, Yoyo W Y Chu, Gary T K Mok, Tiong Y Tan, Wanling Yang, So Lun Lee, Wing Fai Tang, Winnie W Y Tso, Elizabeth T Lau, Anita S Y Kan, Mary H Tang, Yu-Lung Lau, Brian H Y Chung
Published 2014-01-01

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

Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies

by Gordon K. C. Leung, H. M. Luk, Vincent H. M. Tang, W. W. Gao, Christopher C. Y. Mak, Mullin H. C. Yu, W. L. Wong, Yoyo W. Y. Chu, W. L. Yang, Wilfred H. S. Wong, Alvin C. H. Ma, Anskar Y. H. Leung, D. Y. Jin, Kelvin Y. K. Chan, Judith Allanson, Ivan F. M. Lo, Brian H. Y. Chung
Published 2018-02-01

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