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Page 1
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A,… See abstract for full author list ➔ Parsons MT, et al. Among authors: montes e. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.
Feliubadaló L, Lopez-Doriga A, Castellsagué E, del Valle J, Menéndez M, Tornero E, Montes E, Cuesta R, Gómez C, Campos O, Pineda M, González S, Moreno V, Brunet J, Blanco I, Serra E, Capellá G, Lázaro C. Feliubadaló L, et al. Among authors: montes e. Eur J Hum Genet. 2013 Aug;21(8):864-70. doi: 10.1038/ejhg.2012.270. Epub 2012 Dec 19. Eur J Hum Genet. 2013. PMID: 23249957 Free PMC article.
Improving Genetic Testing in Hereditary Cancer by RNA Analysis: Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics Guidelines.
Rofes P, Menéndez M, González S, Tornero E, Gómez C, Vargas-Parra G, Montes E, Salinas M, Solanes A, Brunet J, Teulé A, Capellá G, Feliubadaló L, Del Valle J, Pineda M, Lázaro C. Rofes P, et al. Among authors: montes e. J Mol Diagn. 2020 Dec;22(12):1453-1468. doi: 10.1016/j.jmoldx.2020.09.007. Epub 2020 Oct 1. J Mol Diagn. 2020. PMID: 33011440 Free article.
ERCC3, a new ovarian cancer susceptibility gene?
Stradella A, Del Valle J, Rofes P, Vargas-Parra G, Salinas M, González S, Montes E, López-Doriga A, Gómez C, de Cid R, Darder E, Teulé A, Solanes A, Munté E, Capellà G, Pineda M, Feliubadaló L, Brunet J, Lázaro C. Stradella A, et al. Among authors: montes e. Eur J Cancer. 2020 Dec;141:1-8. doi: 10.1016/j.ejca.2020.09.023. Epub 2020 Oct 23. Eur J Cancer. 2020. PMID: 33125943
RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant.
Rofes P, Pineda M, Feliubadaló L, Menéndez M, de Cid R, Gómez C, Montes E, Capellá G, Brunet J, Del Valle J, Lázaro C. Rofes P, et al. Among authors: montes e. Sci Rep. 2021 Nov 25;11(1):22948. doi: 10.1038/s41598-021-02465-y. Sci Rep. 2021. PMID: 34824355 Free PMC article.
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.
Lopez-Doriga A, Feliubadaló L, Menéndez M, Lopez-Doriga S, Morón-Duran FD, del Valle J, Tornero E, Montes E, Cuesta R, Campos O, Gómez C, Pineda M, González S, Moreno V, Capellá G, Lázaro C. Lopez-Doriga A, et al. Among authors: montes e. Hum Mutat. 2014 Mar;35(3):271-7. doi: 10.1002/humu.22484. Hum Mutat. 2014. PMID: 24227591
Author Correction: A global biodiversity observing system to unite monitoring and guide action.
Gonzalez A, Vihervaara P, Balvanera P, Bates AE, Bayraktarov E, Bellingham PJ, Bruder A, Campbell J, Catchen MD, Cavender-Bares J, Chase J, Coops N, Costello MJ, Czúcz B, Delavaud A, Dornelas M, Dubois G, Duffy EJ, Eggermont H, Fernandez M, Fernandez N, Ferrier S, Geller GN, Gill M, Gravel D, Guerra CA, Guralnick R, Harfoot M, Hirsch T, Hoban S, Hughes AC, Hugo W, Hunter ME, Isbell F, Jetz W, Juergens N, Kissling WD, Krug CB, Kullberg P, Le Bras Y, Leung B, Londoño-Murcia MC, Lord JM, Loreau M, Luers A, Ma K, MacDonald AJ, Maes J, McGeoch M, Mihoub JB, Millette KL, Molnar Z, Montes E, Mori AS, Muller-Karger FE, Muraoka H, Nakaoka M, Navarro L, Newbold T, Niamir A, Obura D, O'Connor M, Paganini M, Pelletier D, Pereira H, Poisot T, Pollock LJ, Purvis A, Radulovici A, Rocchini D, Roeoesli C, Schaepman M, Schaepman-Strub G, Schmeller DS, Schmiedel U, Schneider FD, Shakya MM, Skidmore A, Skowno AL, Takeuchi Y, Tuanmu MN, Turak E, Turner W, Urban MC, Urbina-Cardona N, Valbuena R, Van de Putte A, van Havre B, Wingate VR, Wright E, Torrelio CZ. Gonzalez A, et al. Among authors: montes e. Nat Ecol Evol. 2023 Dec;7(12):2173. doi: 10.1038/s41559-023-02263-x. Nat Ecol Evol. 2023. PMID: 37985899 No abstract available.
148 results