Found: 6

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  • Genomic regions associated with microdeletion/ microduplication syndromes exhibit extreme diversity of structural variation.

    Published in:
    Genetics, 2021, v. 217, n. 2, p. 1, doi. 10.1093/genetics/iyaa038
    By:
    • Mostovoy, Yulia;
    • Yilmaz, Feyza;
    • Chow, Stephen K.;
    • Chu, Catherine;
    • Lin, Chin;
    • Geiger, Elizabeth A.;
    • Meeks, Naomi J. L.;
    • Chatfield, Kathryn C.;
    • Coughlin II, Curtis R.;
    • Surti, Urvashi;
    • Kwok, Pui-Yan;
    • Shaikh, Tamim H.
    Publication type:
    Article

  • Towards a reference genome that captures global genetic diversity.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-19311-w
    By:
    • Wong, Karen H. Y.;
    • Ma, Walfred;
    • Wei, Chun-Yu;
    • Yeh, Erh-Chan;
    • Lin, Wan-Jia;
    • Wang, Elin H. F.;
    • Su, Jen-Ping;
    • Hsieh, Feng-Jen;
    • Kao, Hsiao-Jung;
    • Chen, Hsiao-Huei;
    • Chow, Stephen K.;
    • Young, Eleanor;
    • Chu, Catherine;
    • Poon, Annie;
    • Yang, Chi-Fan;
    • Lin, Dar-Shong;
    • Hu, Yu-Feng;
    • Wu, Jer-Yuarn;
    • Lee, Ni-Chung;
    • Hwu, Wuh-Liang
    Publication type:
    Article

  • Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.

    Published in:
    2021
    By:
    • Shieh, Joseph T.;
    • Penon-Portmann, Monica;
    • Wong, Karen H. Y.;
    • Levy-Sakin, Michal;
    • Verghese, Michelle;
    • Slavotinek, Anne;
    • Gallagher, Renata C.;
    • Mendelsohn, Bryce A.;
    • Tenney, Jessica;
    • Beleford, Daniah;
    • Perry, Hazel;
    • Chow, Stephen K.;
    • Sharo, Andrew G.;
    • Brenner, Steven E.;
    • Qi, Zhongxia;
    • Yu, Jingwei;
    • Klein, Ophir D.;
    • Martin, David;
    • Kwok, Pui-Yan;
    • Boffelli, Dario
    Publication type:
    Correction Notice

  • Application of full-genome analysis to diagnose rare monogenic disorders.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00241-5
    By:
    • Shieh, Joseph T.;
    • Penon-Portmann, Monica;
    • Wong, Karen H. Y.;
    • Levy-Sakin, Michal;
    • Verghese, Michelle;
    • Slavotinek, Anne;
    • Gallagher, Renata C.;
    • Mendelsohn, Bryce A.;
    • Tenney, Jessica;
    • Beleford, Daniah;
    • Perry, Hazel;
    • Chow, Stephen K.;
    • Sharo, Andrew G.;
    • Brenner, Steven E.;
    • Qi, Zhongxia;
    • Yu, Jingwei;
    • Klein, Ophir D.;
    • Martin, David;
    • Kwok, Pui-Yan;
    • Boffelli, Dario
    Publication type:
    Article

  • Application of full-genome analysis to diagnose rare monogenic disorders.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00241-5
    By:
    • Shieh, Joseph T.;
    • Penon-Portmann, Monica;
    • Wong, Karen H. Y.;
    • Levy-Sakin, Michal;
    • Verghese, Michelle;
    • Slavotinek, Anne;
    • Gallagher, Renata C.;
    • Mendelsohn, Bryce A.;
    • Tenney, Jessica;
    • Beleford, Daniah;
    • Perry, Hazel;
    • Chow, Stephen K.;
    • Sharo, Andrew G.;
    • Brenner, Steven E.;
    • Qi, Zhongxia;
    • Yu, Jingwei;
    • Klein, Ophir D.;
    • Martin, David;
    • Kwok, Pui-Yan;
    • Boffelli, Dario
    Publication type:
    Article

  • Application of full-genome analysis to diagnose rare monogenic disorders.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00241-5
    By:
    • Shieh, Joseph T.;
    • Penon-Portmann, Monica;
    • Wong, Karen H. Y.;
    • Levy-Sakin, Michal;
    • Verghese, Michelle;
    • Slavotinek, Anne;
    • Gallagher, Renata C.;
    • Mendelsohn, Bryce A.;
    • Tenney, Jessica;
    • Beleford, Daniah;
    • Perry, Hazel;
    • Chow, Stephen K.;
    • Sharo, Andrew G.;
    • Brenner, Steven E.;
    • Qi, Zhongxia;
    • Yu, Jingwei;
    • Klein, Ophir D.;
    • Martin, David;
    • Kwok, Pui-Yan;
    • Boffelli, Dario
    Publication type:
    Article