Works matching AU Mak, Christopher C. Y.

Results: 16
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    Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).

    Published in:
    BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0409-z
    By:
    • Leung, Gordon K C;
    • Mak, Christopher C Y;
    • Fung, Jasmine L F;
    • Wong, Wilfred H S;
    • Tsang, Mandy H Y;
    • Yu, Mullin H C;
    • Pei, Steven L C;
    • Yeung, K S;
    • Mok, Gary T K;
    • Lee, C P;
    • Hui, Amelia P W;
    • Tang, Mary H Y;
    • Chan, Kelvin Y K;
    • Liu, Anthony P Y;
    • Yang, Wanling;
    • Sham, P C;
    • Kan, Anita S Y;
    • Chung, Brian H Y
    Publication type:
    Article
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    Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 5, p. 1, doi. 10.1002/mgg3.1205
    By:
    • Tsang, Mandy H. Y.;
    • Chiu, Annie T. G.;
    • Kwong, Bernard M. H.;
    • Liang, Rui;
    • Yu, Mullin H. C.;
    • Yeung, Kit‐San;
    • Ho, Wetor H. L.;
    • Mak, Christopher C. Y.;
    • Leung, Gordon K. C.;
    • Pei, Steven L. C.;
    • Fung, Jasmine L. F.;
    • Wong, Virginia C. N.;
    • Muntoni, Francesco;
    • Chung, Brian H. Y.;
    • Chan, Sophelia H. S.
    Publication type:
    Article
    8

    CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.

    Published in:
    Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 1, p. 40, doi. 10.1002/mgg3.258
    By:
    • Leung, Gordon K. C.;
    • Ying, Dingge;
    • Mak, Christopher C. Y.;
    • Chen, Xin‐Ying;
    • Xu, Weiyi;
    • Yeung, Kit‐San;
    • Wong, Wai‐Lap;
    • Chu, Yoyo W. Y.;
    • Mok, Gary T. K.;
    • Chau, Christy S. K.;
    • McLuskey, Jenna;
    • Ong, Winnie P. T.;
    • Leong, Huey‐Yin;
    • Chan, Kelvin Y. K.;
    • Yang, Wanling;
    • Chen, Jeng‐Haur;
    • Li, Albert M.;
    • Sham, Pak C.;
    • Lau, Yu‐Lung;
    • Chung, Brian H. Y.
    Publication type:
    Article
    9
    10

    Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 208, doi. 10.1002/ajmg.c.31692
    By:
    • Yu, Kris P. T.;
    • Luk, Ho‐Ming;
    • Leung, Gordon K. C.;
    • Mak, Christopher C. Y.;
    • Cheng, Shirley S. W.;
    • Hau, Edgar W. L.;
    • Chan, David K. H.;
    • Lam, Stephen T. S.;
    • Tong, Tony M. F.;
    • Chung, Brian H. Y.;
    • Lo, Ivan F. M.
    Publication type:
    Article
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    12

    Cover Image, Volume 173A, Number 4, April 2017.

    Published in:
    2017
    By:
    • Kruszka, Paul;
    • Addissie, Yonit A.;
    • McGinn, Daniel E.;
    • Porras, Antonio R.;
    • Biggs, Elijah;
    • Share, Matthew;
    • Crowley, T. Blaine;
    • Chung, Brian H. Y.;
    • Mok, Gary T. K.;
    • Mak, Christopher C. Y.;
    • Muthukumarasamy, Premala;
    • Thong, Meow‐Keong;
    • Sirisena, Nirmala D.;
    • Dissanayake, Vajira H. W.;
    • Paththinige, C. Sampath;
    • Prabodha, L. B. Lahiru;
    • Mishra, Rupesh;
    • Shotelersuk, Vorasuk;
    • Ekure, Ekanem Nsikak;
    • Sokunbi, Ogochukwu Jidechukwu
    Publication type:
    Other
    13

    22q11.2 deletion syndrome in diverse populations.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 879, doi. 10.1002/ajmg.a.38199
    By:
    • Kruszka, Paul;
    • Addissie, Yonit A.;
    • McGinn, Daniel E.;
    • Porras, Antonio R.;
    • Biggs, Elijah;
    • Share, Matthew;
    • Crowley, T. Blaine;
    • Chung, Brian H. Y.;
    • Mok, Gary T. K.;
    • Mak, Christopher C. Y.;
    • Muthukumarasamy, Premala;
    • Thong, Meow‐Keong;
    • Sirisena, Nirmala D.;
    • Dissanayake, Vajira H. W.;
    • Paththinige, C. Sampath;
    • Prabodha, L. B. Lahiru;
    • Mishra, Rupesh;
    • Shotelersuk, Vorasuk;
    • Ekure, Ekanem Nsikak;
    • Sokunbi, Ogochukwu Jidechukwu
    Publication type:
    Article
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    MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

    Published in:
    Brain: A Journal of Neurology, 2020, v. 143, n. 1, p. 55, doi. 10.1093/brain/awz379
    By:
    • Mak, Christopher C Y;
    • Doherty, Dan;
    • Lin, Angela E;
    • Vegas, Nancy;
    • Cho, Megan T;
    • Viot, Géraldine;
    • Dimartino, Clémantine;
    • Weisfeld-Adams, James D;
    • Lessel, Davor;
    • Joss, Shelagh;
    • Li, Chumei;
    • Gonzaga-Jauregui, Claudia;
    • Zarate, Yuri A;
    • Ehmke, Nadja;
    • Horn, Denise;
    • Troyer, Caitlin;
    • Kant, Sarina G;
    • Lee, Youngha;
    • Ishak, Gisele E;
    • Leung, Gordon
    Publication type:
    Article
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