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Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data.
Munté E, Feliubadaló L, Del Valle J, González S, Ramos-Muntada M, Balmaña J, Ramon Y Cajal T, Tuset N, Llort G, Cadiñanos J, Brunet J, Capellá G, Lázaro C, Pineda M. Munté E, et al. Among authors: feliubadalo l. J Mol Diagn. 2024 Aug;26(8):727-738. doi: 10.1016/j.jmoldx.2024.05.005. Epub 2024 Jun 6. J Mol Diagn. 2024. PMID: 38851388 Free article.
Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.
Menéndez M, Castellsagué J, Mirete M, Pros E, Feliubadaló L, Osorio A, Calaf M, Tornero E, del Valle J, Fernández-Rodríguez J, Quiles F, Salinas M, Velasco A, Teulé A, Brunet J, Blanco I, Capellá G, Lázaro C. Menéndez M, et al. Among authors: feliubadalo l. Breast Cancer Res Treat. 2012 Apr;132(3):979-92. doi: 10.1007/s10549-011-1661-5. Epub 2011 Jul 7. Breast Cancer Res Treat. 2012. PMID: 21735045
Identification of a new complex rearrangement affecting exon 20 of BRCA1.
Del Valle J, Campos O, Velasco A, Darder E, Menéndez M, Feliubadaló L, Tornero E, Blanco I, Izquierdo A, Brunet J, Capellá G, Lázaro C. Del Valle J, et al. Among authors: feliubadalo l. Breast Cancer Res Treat. 2011 Nov;130(1):341-4. doi: 10.1007/s10549-011-1673-1. Epub 2011 Jul 15. Breast Cancer Res Treat. 2011. PMID: 21761158
Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer.
Blanco A, de la Hoya M, Balmaña J, Ramón y Cajal T, Teulé A, Miramar MD, Esteban E, Infante M, Benítez J, Torres A, Tejada MI, Brunet J, Graña B, Balbín M, Pérez-Segura P, Osorio A, Velasco EA, Chirivella I, Calvo MT, Feliubadaló L, Lasa A, Díez O, Carracedo A, Caldés T, Vega A. Blanco A, et al. Among authors: feliubadalo l. Breast Cancer Res Treat. 2012 Feb;132(1):307-15. doi: 10.1007/s10549-011-1842-2. Epub 2011 Nov 4. Breast Cancer Res Treat. 2012. PMID: 22052327 Free article.
Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.
Fernández-Rodríguez J, Quiles F, Blanco I, Teulé A, Feliubadaló L, Valle JD, Salinas M, Izquierdo A, Darder E, Schindler D, Capellá G, Brunet J, Lázaro C, Pujana MA. Fernández-Rodríguez J, et al. Among authors: feliubadalo l. BMC Cancer. 2012 Mar 8;12:84. doi: 10.1186/1471-2407-12-84. BMC Cancer. 2012. PMID: 22401137 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. 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.
Functional and structural analysis of C-terminal BRCA1 missense variants.
Quiles F, Fernández-Rodríguez J, Mosca R, Feliubadaló L, Tornero E, Brunet J, Blanco I, Capellá G, Pujana MÀ, Aloy P, Monteiro A, Lázaro C. Quiles F, et al. Among authors: feliubadalo l. PLoS One. 2013 Apr 17;8(4):e61302. doi: 10.1371/journal.pone.0061302. Print 2013. PLoS One. 2013. PMID: 23613828 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: feliubadalo l. Hum Mutat. 2014 Mar;35(3):271-7. doi: 10.1002/humu.22484. Hum Mutat. 2014. PMID: 24227591
76 results