Works matching AU Brandão, Rita D.


Results: 8
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    Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.

    Published in:
    International Journal of Cancer, 2019, v. 145, n. 2, p. 401, doi. 10.1002/ijc.32114
    By:
    • Brandão, Rita D.;
    • Mensaert, Klaas;
    • López‐Perolio, Irene;
    • Tserpelis, Demis;
    • Xenakis, Markos;
    • Lattimore, Vanessa;
    • Walker, Logan C.;
    • Kvist, Anders;
    • Vega, Ana;
    • Gutiérrez‐Enríquez, Sara;
    • Díez, Orland;
    • Hoya, Miguel;
    • Spurdle, Amanda B.;
    • De Meyer, Tim;
    • Blok, Marinus J.
    Publication type:
    Article
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    A guide for functional analysis of BRCA1 variants of uncertain significance.

    Published in:
    Human Mutation, 2012, v. 33, n. 11, p. 1526, doi. 10.1002/humu.22150
    By:
    • Millot, Gaël A.;
    • Carvalho, Marcelo A.;
    • Caputo, Sandrine M.;
    • Vreeswijk, Maaike P.G.;
    • Brown, Melissa A.;
    • Webb, Michelle;
    • Rouleau, Etienne;
    • Neuhausen, Susan L.;
    • Hansen, Thomas v. O.;
    • Galli, Alvaro;
    • Brandão, Rita D.;
    • Blok, Marinus J.;
    • Velkova, Aneliya;
    • Couch, Fergus J.;
    • Monteiro, Alvaro N.A.
    Publication type:
    Article
    8

    Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 14, p. 3666
    By:
    • Colombo, Mara;
    • Blok, Marinus J.;
    • Whiley, Phillip;
    • Santamariña, Marta;
    • Gutiérrez-Enríquez, Sara;
    • Romero, Atocha;
    • Garre, Pilar;
    • Becker, Alexandra;
    • Smith, Lindsay Denise;
    • De Vecchi, Giovanna;
    • Brandão, Rita D.;
    • Tserpelis, Demis;
    • Brown, Melissa;
    • Blanco, Ana;
    • Bonache, Sandra;
    • Menéndez, Mireia;
    • Houdayer, Claude;
    • Foglia, Claudia;
    • Fackenthal, James D.;
    • Baralle, Diana
    Publication type:
    Article