Found: 6

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  • Exome sequencing in paediatric patients with movement disorders.

    Published in:
    2021
    By:
    • Kwong, Anna Ka-Yee;
    • Tsang, Mandy Ho-Yin;
    • Fung, Jasmine Lee-Fong;
    • Mak, Christopher Chun-Yu;
    • Chan, Kate Lok-San;
    • Rodenburg, Richard J. T.;
    • Lek, Monkol;
    • Huang, Shushu;
    • Pajusalu, Sander;
    • Yau, Man-Mut;
    • Tsoi, Cheung;
    • Fung, Sharon;
    • Liu, Kam-Tim;
    • Ma, Che-Kwan;
    • Wong, Sheila;
    • Yau, Eric Kin-Cheong;
    • Tai, Shuk-Mui;
    • Fung, Eva Lai-Wah;
    • Wu, Nick Shun-Ping;
    • Tsung, Li-Yan
    Publication type:
    journal article

  • Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00287-z
    By:
    • 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
    Publication type:
    Article

  • Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy.

    Published in:
    Epilepsia Open, 2019, v. 4, n. 1, p. 63, doi. 10.1002/epi4.12282
    By:
    • 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
    Publication type:
    Article

  • Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

    Published in:
    PLoS Genetics, 2021, v. 17, n. 2, p. 1, doi. 10.1371/journal.pgen.1009323
    By:
    • 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
    Publication type:
    Article

  • Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.

    Published in:
    NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0091-x
    By:
    • 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
    Publication type:
    Article

  • CTNNB1‐related neurodevelopmental disorder in a Chinese population: A case series.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 130, doi. 10.1002/ajmg.a.62504
    By:
    • Ho, Stephanie;
    • Tsang, Mandy Ho‐Yin;
    • Fung, Jasmine Lee‐Fong;
    • Huang, Haibo;
    • Chow, Chun‐Bong;
    • Cheng, Shirley Sze‐Wing;
    • Luk, Ho‐Ming;
    • Chung, Brian Hon‐Yin;
    • Lo, Ivan Fai‐Man
    Publication type:
    Article