Found: 6

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  • A Distributed Whole Genome Sequencing Benchmark Study.

    Published in:
    Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.612515
    By:
    • Corbett, Richard D.;
    • Eveleigh, Robert;
    • Whitney, Joe;
    • Barai, Namrata;
    • Bourgey, Mathieu;
    • Chuah, Eric;
    • Johnson, Joanne;
    • Moore, Richard A.;
    • Moradin, Neda;
    • Mungall, Karen L.;
    • Pereira, Sergio;
    • Reuter, Miriam S.;
    • Thiruvahindrapuram, Bhooma;
    • Wintle, Richard F.;
    • Ragoussis, Jiannis;
    • Strug, Lisa J.;
    • Herbrick, Jo-Anne;
    • Aziz, Naveed;
    • Jones, Steven J. M.;
    • Lathrop, Mark
    Publication type:
    Article

  • Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia.

    Published in:
    Nature Genetics, 2001, v. 28, n. 3, p. 220, doi. 10.1038/90054
    By:
    • Ma, Zhigui;
    • Morris, Stephan W.;
    • Valentine, Virginia;
    • L, Martin;
    • Herbrick, Jo-Anne;
    • Cui, Xiaoli;
    • Bouman, Derek;
    • Li, Yue;
    • Mehta, Perdeep K.;
    • Nizetic, Dean;
    • Kaneko, Yasuhiko;
    • Chan, Godfrey C.F.;
    • Chan, Li C.;
    • Squire, Jeremy;
    • Scherer, Stephen W.;
    • Hitzler, Johann K.
    Publication type:
    Article

  • Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

    Published in:
    Nature Communications, 2015, v. 6, n. 11, p. 8718, doi. 10.1038/ncomms9718
    By:
    • Merico, Daniele;
    • Roifman, Maian;
    • Braunschweig, Ulrich;
    • Yuen, Ryan K. C.;
    • Alexandrova, Roumiana;
    • Bates, Andrea;
    • Reid, Brenda;
    • Nalpathamkalam, Thomas;
    • Wang, Zhuozhi;
    • Thiruvahindrapuram, Bhooma;
    • Gray, Paul;
    • Kakakios, Alyson;
    • Peake, Jane;
    • Hogarth, Stephanie;
    • Manson, David;
    • Buncic, Raymond;
    • Pereira, Sergio L.;
    • Herbrick, Jo-Anne;
    • Blencowe, Benjamin J.;
    • Roifman, Chaim M.
    Publication type:
    Article

  • Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.

    Published in:
    Nature Genetics, 1998, v. 20, n. 2, p. 171, doi. 10.1038/2470
    By:
    • Minassian, Berge A.;
    • Lee, Jeffrey R.;
    • Herbrick, Jo-Anne;
    • Huizenga, Jack;
    • Soder, Sylvia;
    • Mungall, Andrew J.;
    • Dunham, Ian;
    • Gardner, Rebecca;
    • Fong, Chung-yan G.;
    • Carpenter, Stirling;
    • Jardim, Laura;
    • Satishchandra, P.;
    • Andermann, Eva;
    • Snead, O. Carter;
    • Lopes-Cendes, Iscia;
    • Tsui, Lap-Chee;
    • Delgado-Escueta, Antonio V.;
    • Rouleau, Guy A.;
    • Scherer, Stephen W.
    Publication type:
    Article

  • The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

    Published in:
    2018
    By:
    • Reuter, Miriam S.;
    • Walker, Susan;
    • Thiruvahindrapuram, Bhooma;
    • Whitney, Joe;
    • Cohn, Iris;
    • Sondheimer, Neal;
    • Yuen, Ryan K.C.;
    • Trost, Brett;
    • Paton, Tara A.;
    • Pereira, Sergio L.;
    • Herbrick, Jo-Anne;
    • Wintle, Richard F.;
    • Merico, Daniele;
    • Howe, Jennifer;
    • MacDonald, Jeffrey R.;
    • Lu, Chao;
    • Nalpathamkalam, Thomas;
    • Sung, Wilson W.L.;
    • Wang, Zhuozhi;
    • Patel, Rohan V.
    Publication type:
    journal article

  • Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre).

    Published in:
    Human Molecular Genetics, 1998, v. 7, n. 7, p. 1105, doi. 10.1093/hmg/7.7.1105
    By:
    • Coyle, Beth;
    • Reardon, William;
    • Herbrick, Jo‐Anne;
    • Tsui, Lap‐Chee;
    • Gausden, Eleanor;
    • Lee, Jeffrey;
    • Coffey, Rebecca;
    • Grueters, Annette;
    • Grossman, Ashley;
    • Phelps, Peter D.;
    • Luxon, Linda;
    • Kendall‐Taylor, Pat;
    • Scherer, Stephen W.;
    • Trembath, Richard C.
    Publication type:
    Article