Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy
Tsang, Mandy Ho‐Yin, Leung, Gordon Ka‐Chun, Ho, Alvin Chi‐Chung, Yeung, Kit‐San, Mak, Christopher Chun‐Yu, Pei, Steven Lim‐Cho, Yu, Mullin Ho‐Chung, Kan, Anita Sik‐Yau, Chan, Kelvin Yuen‐Kwong, Kwong, Karen Ling, Lee, So‐Lun, Yung, Ada Wing‐Yan, Fung, Cheuk‐Wing, Chung, Brian Hon‐Yin
Published in Epilepsia open (01.03.2019)
Published in Epilepsia open (01.03.2019)
Get full text
Journal Article
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data
Yu, Mullin Ho Chung, Mak, Christopher Chun Yu, Fung, Jasmine Lee Fong, Lee, Mianne, Tsang, Mandy Ho Yin, Chau, Jeffrey Fong Ting, Chung, Patrick Ho-Yu, Yang, Wanling, Chan, Godfrey Chi Fung, Lee, So Lun, Lau, Yu Lung, Tam, Paul Kwong Hang, Tang, Clara Sze Man, Yeung, Kit San, Chung, Brian Hon Yin
Published in Journal of human genetics (01.06.2021)
Published in Journal of human genetics (01.06.2021)
Get full text
Journal Article
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
Yu, Mullin Ho-Chung, Tsang, Mandy Ho-Yin, Lai, Sophie, Ho, Matthew Sai-Pong, Tse, Donald M L, Willis, Brooke, Kwong, Anna Ka-Yee, Chou, Yen-Yin, Lin, Shuan-Pei, Quinzii, Catarina M, Hwu, Wuh-Liang, Chien, Yin-Hsiu, Kuo, Pao-Lin, Chan, Victor Chi-Man, Tsoi, Cheung, Chong, Shuk-Ching, Rodenburg, Richard J T, Smeitink, Jan, Mak, Christopher Chun-Yu, Yeung, Kit-San, Fung, Jasmine Lee-Fong, Lam, Wendy, Hui, Joannie, Lee, Ni-Chung, Fung, Cheuk-Wing, Chung, Brian Hon-Yin
Published in Npj genomic medicine (05.08.2019)
Published in Npj genomic medicine (05.08.2019)
Get full text
Journal Article
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese
Chau, Jeffrey Fong Ting, Yu, Mullin Ho Chung, Chui, Martin Man Chun, Yeung, Cyrus Chun Wing, Kwok, Aaron Wing Cheung, Zhuang, Xuehan, Lee, Ryan, Fung, Jasmine Lee Fong, Lee, Mianne, Mak, Christopher Chun Yu, Ng, Nicole Ying Ting, Chung, Claudia Ching Yan, Chan, Marcus Chun Yin, Tsang, Mandy Ho Yin, Chan, Joshua Chun Ki, Chan, Kelvin Yuen Kwong, Kan, Anita Sik Yau, Chung, Patrick Ho Yu, Yang, Wanling, Lee, So Lun, Chan, Godfrey Chi Fung, Tam, Paul Kwong Hang, Lau, Yu Lung, Yeung, Kit San, Chung, Brian Hon Yin, Tang, Clara Sze Man
Published in Npj genomic medicine (21.03.2022)
Published in Npj genomic medicine (21.03.2022)
Get full text
Journal Article
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population
Yu, Mullin Ho Chung, Chan, Marcus Chun Yin, Chung, Claudia Ching Yan, Li, Andrew Wang Tat, Yip, Chara Yin Wa, Mak, Christopher Chun Yu, Chau, Jeffrey Fong Ting, Lee, Mianne, Fung, Jasmine Lee Fong, Tsang, Mandy Ho Yin, Chan, Joshua Chun Ki, Wong, Wilfred Hing Sang, Yang, Jing, Chui, William Chun Ming, Chung, Patrick Ho Yu, Yang, Wanling, Lee, So Lun, Chan, Godfrey Chi Fung, Tam, Paul Kwong Hang, Lau, Yu Lung, Tang, Clara Sze Man, Yeung, Kit San, Chung, Brian Hon Yin
Published in PLoS genetics (01.02.2021)
Published in PLoS genetics (01.02.2021)
Get full text
Journal Article
Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis
Chau, Jeffrey Fong Ting, Lee, Mianne, Chui, Martin Man Chun, Yu, Mullin Ho Chung, Fung, Jasmine Lee Fong, Mak, Christopher Chun Yu, Chau, Christy Shuk-Kuen, Siu, Ka Ka, Hung, Jacqueline, Yeung, Kit San, Kwong, Anna Ka Yee, O'Callaghan, Christopher, Lau, Yu Lung, Lee, Chun-Wai Davy, Chung, Brian Hon-Yin, Lee, So-Lun
Published in Frontiers in genetics (08.08.2022)
Published in Frontiers in genetics (08.08.2022)
Get full text
Journal Article
Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis
Yu, Mullin Ho Chung, Chau, Jeffrey Fong Ting, Au, Sandy Leung Kuen, Lo, Hei Man, Yeung, Kit San, Fung, Jasmine Lee Fong, Mak, Christopher Chun Yu, Chung, Claudia Ching Yan, Chan, Kelvin Yuen Kwong, Chung, Brian Hon Yin, Kan, Anita Sik Yau
Published in Frontiers in genetics (27.01.2021)
Published in Frontiers in genetics (27.01.2021)
Get full text
Journal Article
170 Expanded carrier screening: primary prevention of recessive monogenic diseases evaluated using 1,909 chinese genome and exome sequencing data
Jeffrey Chau, Fong Ting, Mullin Yu, Ho Chung, Tang, Sze-Man Clara, Yeung, Kit San, Chung, Hon-Yin Brian
Published in BMJ paediatrics open (01.04.2021)
Published in BMJ paediatrics open (01.04.2021)
Get full text
Journal Article
Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction
Ma, Alvin Chun Hang, Mak, Christopher Chun Yu, Yeung, Kit San, Pei, Steven Lim Cho, Ying, Dingge, Yu, Mullin Ho Chung, Hasan, Kazi Md Mahmudul, Chen, Xiangke, Chow, Pak Cheong, Cheung, Yiu Fai, Chung, Brian Hon Yin
Published in Circulation. Genomic and precision medicine (01.12.2020)
Published in Circulation. Genomic and precision medicine (01.12.2020)
Get more information
Journal Article
Delineation of molecular findings by whole exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
Mandy Ho-Yin Tsang, Anna Ka-Yee Kwong, Kate Lok-San Chan, Jasmine Lee-Fong Fung, Mullin Ho-Chung Yu, Christopher Chun-Yu Mak, Kit-San Yeung, Richard J.T. Rodenburg, Jam A.M. Smeitink, Chan, Rachel, Tsoi, Thomas, Hui, Joannie, Wong, Sheila Suet-Na, Shuk-Mui Tai, Chan, Victor Chi-Man, Che-Kwan, Ma, Tsiu-Hang, Sharon Fung, Shun-Ping Wu, Chan, W K, Brian Hon-Yin Chung, Cheuk-wing Fung
Published in Human Genomics (28.08.2020)
Published in Human Genomics (28.08.2020)
Get full text
Web Resource
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
Yu, Mullin Ho-Chung, Tsang, Mandy Ho-Yin, Lai, Sophie, Ho, Matthew Sai-Pong, Tse, Donald M L, Willis, Brooke, Kwong, Anna Ka-Yee, Chou, Yen-Yin, Lin, Shuan-Pei, Quinzii, Catarina M, Hwu, Wuh-Liang, Chien, Yin-Hsiu, Kuo, Pao-Lin, Chan, Victor Chi-Man, Tsoi, Cheung, Chong, Shuk-Ching, Rodenburg, Richard J T, Smeitink, Jan, Mak, Christopher Chun-Yu, Yeung, Kit-San, Fung, Jasmine Lee-Fong, Lam, Wendy, Hui, Joannie, Lee, Ni-Chung, Fung, Cheuk-Wing, Chung, Brian Hon-Yin
Published in NPJ genomic medicine (01.01.2019)
Published in NPJ genomic medicine (01.01.2019)
Get full text
Report