Works by Menéndez, Mireia


Results: 15
    1

    Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 8, p. 864, doi. 10.1038/ejhg.2012.270
    By:
    • Feliubadaló, Lídia;
    • Lopez-Doriga, Adriana;
    • Castellsagué, Ester;
    • del Valle, Jesús;
    • Menéndez, Mireia;
    • Tornero, Eva;
    • Montes, Eva;
    • Cuesta, Raquel;
    • Gómez, Carolina;
    • Campos, Olga;
    • Pineda, Marta;
    • González, Sara;
    • Moreno, Victor;
    • Brunet, Joan;
    • Blanco, Ignacio;
    • Serra, Eduard;
    • Capellá, Gabriel;
    • Lázaro, Conxi
    Publication type:
    Article
    2
    3
    4

    Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.

    Published in:
    Breast Cancer Research & Treatment, 2012, v. 132, n. 3, p. 979, doi. 10.1007/s10549-011-1661-5
    By:
    • Menéndez, Mireia;
    • Castellsagué, Joan;
    • Mirete, Marc;
    • Pros, Eva;
    • Feliubadaló, Lídia;
    • Osorio, Ana;
    • Calaf, Mónica;
    • Tornero, Eva;
    • Valle, Jesús;
    • Fernández-Rodríguez, Juana;
    • Quiles, Francisco;
    • Salinas, Mónica;
    • Velasco, Angela;
    • Teulé, Alex;
    • Brunet, Joan;
    • Blanco, Ignacio;
    • Capellá, Gabriel;
    • Lázaro, Conxi
    Publication type:
    Article
    5

    Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.

    Published in:
    Breast Cancer Research & Treatment, 2012, v. 132, n. 3, p. 1009, doi. 10.1007/s10549-011-1674-0
    By:
    • Thomassen, Mads;
    • Blanco, Ana;
    • Montagna, Marco;
    • Hansen, Thomas;
    • Pedersen, Inge;
    • Gutiérrez-Enríquez, Sara;
    • Menéndez, Mireia;
    • Fachal, Laura;
    • Santamariña, Marta;
    • Steffensen, Ane;
    • Jønson, Lars;
    • Agata, Simona;
    • Whiley, Phillip;
    • Tognazzo, Silvia;
    • Tornero, Eva;
    • Jensen, Uffe;
    • Balmaña, Judith;
    • Kruse, Torben;
    • Goldgar, David;
    • Lázaro, Conxi
    Publication type:
    Article
    6
    7
    8

    Colorectal cancer risk and the APC D1822V variant.

    Published in:
    International Journal of Cancer, 2004, v. 112, n. 1, p. 161, doi. 10.1002/ijc.20361
    By:
    • Menéndez, Mireia;
    • González, Sara;
    • Blanco, Ignacio;
    • Guinó, Elisabet;
    • Peris, Mercé;
    • Peinado, Miquel A.;
    • Capellá, Gabriel;
    • Moreno, Victor
    Publication type:
    Article
    9

    TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.

    Published in:
    Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01429-5
    By:
    • Rofes, Paula;
    • Castillo-Manzano, Carmen;
    • Menéndez, Mireia;
    • Teulé, Álex;
    • Iglesias, Sílvia;
    • Munté, Elisabet;
    • Ramos-Muntada, Mireia;
    • Gómez, Carolina;
    • Tornero, Eva;
    • Darder, Esther;
    • Montes, Eva;
    • Valle, Laura;
    • Capellá, Gabriel;
    • Pineda, Marta;
    • Brunet, Joan;
    • Feliubadaló, Lidia;
    • del Valle, Jesús;
    • Lázaro, Conxi
    Publication type:
    Article
    10

    Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing.

    Published in:
    Clinical Chemistry, 2014, v. 60, n. 2, p. 341, doi. 10.1373/clinchem.2013.210658
    By:
    • Whiley, Phillip J.;
    • de la Hoya, Miguel;
    • Thomassen, Mads;
    • Becker, Alexandra;
    • Brandão, Rita;
    • Pedersen, Inge Sokilde;
    • Montagna, Marco;
    • Menéndez, Mireia;
    • Quiles, Francisco;
    • Gutiérrez-Enríquez, Sara;
    • De Leeneer, Kim;
    • Tenés, Anna;
    • Montalban, Gemma;
    • Tserpelis, Demis;
    • Toshio Yoshimatsu;
    • Tirapo, Carole;
    • Raponi, Michela;
    • Caldes, Trinidad;
    • Blanco, Ana;
    • Santamariña, Marta
    Publication type:
    Article
    11
    12

    Comprehensive analysis and ACMG‐based classification of CHEK2 variants in hereditary cancer patients.

    Published in:
    Human Mutation, 2020, v. 41, n. 12, p. 2128, doi. 10.1002/humu.24110
    By:
    • Vargas‐Parra, Gardenia;
    • Valle, Jesús;
    • Rofes, Paula;
    • Gausachs, Mireia;
    • Stradella, Agostina;
    • Moreno‐Cabrera, José M.;
    • Velasco, Angela;
    • Tornero, Eva;
    • Menéndez, Mireia;
    • Muñoz, Xavier;
    • Iglesias, Silvia;
    • López‐Doriga, Adriana;
    • Azuara, Daniel;
    • Campos, Olga;
    • Cuesta, Raquel;
    • Darder, Esther;
    • Cid, Rafael;
    • González, Sara;
    • Teulé, Alex;
    • Navarro, Matilde
    Publication type:
    Article
    13

    ICO Amplicon NGS Data Analysis: A Web Tool for Variant Detection in Common High-Risk Hereditary Cancer Genes Analyzed by Amplicon GS Junior Next-Generation Sequencing.

    Published in:
    Human Mutation, 2014, v. 35, n. 3, p. 271, doi. 10.1002/humu.22484
    By:
    • Lopez‐Doriga, Adriana;
    • Feliubadaló, Lídia;
    • Menéndez, Mireia;
    • Lopez‐Doriga, Sergio;
    • Morón‐Duran, Francisco D.;
    • del Valle, Jesús;
    • Tornero, Eva;
    • Montes, Eva;
    • Cuesta, Raquel;
    • Campos, Olga;
    • Gómez, Carolina;
    • Pineda, Marta;
    • González, Sara;
    • Moreno, Victor;
    • Capellá, Gabriel;
    • Lázaro, Conxi
    Publication type:
    Article
    14

    Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

    Published in:
    Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00366
    By:
    • Moles-Fernández, Alejandro;
    • Duran-Lozano, Laura;
    • Montalban, Gemma;
    • Bonache, Sandra;
    • López-Perolio, Irene;
    • Menéndez, Mireia;
    • Santamariña, Marta;
    • Behar, Raquel;
    • Blanco, Ana;
    • Carrasco, Estela;
    • López-Fernández, Adrià;
    • Stjepanovic, Neda;
    • Balmaña, Judith;
    • Capellá, Gabriel;
    • Pineda, Marta;
    • Vega, Ana;
    • Lázaro, Conxi;
    • de la Hoya, Miguel;
    • Diez, Orland;
    • Gutiérrez-Enríquez, Sara
    Publication type:
    Article
    15

    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