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vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E, Feliubadaló L, Pineda M, Tornero E, Gonzalez M, Moreno-Cabrera JM, Roca C, Bales Rubio J, Arnaldo L, Capellá G, Mosquera JL, Lázaro C. Munté E, et al. Among authors: feliubadalo l. Bioinformatics. 2023 Mar 1;39(3):btad128. doi: 10.1093/bioinformatics/btad128. Bioinformatics. 2023. PMID: 36916756 Free PMC article.
Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.
Osorio A, Milne RL, Alonso R, Pita G, Peterlongo P, Teulé A, Nathanson KL, Domchek SM, Rebbeck T, Lasa A, Konstantopoulou I, Hogervorst FB, Verhoef S, van Dooren MF, Jager A, Ausems MG, Aalfs CM, van Asperen CJ, Vreeswijk M, Waisfisz Q, Van Roozendaal CE, Ligtenberg MJ; HEBON; EMBRACE; Easton DF, Peock S, Cook M, Oliver CT, Frost D, Curzon B, Evans DG, Lalloo F, Eeles R, Izatt L, Davidson R, Adlard J, Eccles D, Ong KR, Douglas F, Downing S, Brewer C, Walker L, Nevanlinna H, Aittomäki K, Couch FJ, Fredericksen Z, Lindor NM, Godwin A, Isaacs C, Caligo MA, Loman N, Jernström H, Barbany-Bustinza G, Liljegren A, Ehrencrona H, Stenmark-Askmalm M; Sw E-BRCA; Feliubadaló L, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Fortuzzi S, Johannsson OT, Chenevix-Trench G, Chen XC, Beesley J, Spurdle AB; kConFab; Sinilnikova OM, Healey S, McGuffog L, Antoniou AC, Brunet J, Radice P, Benítez J; CIMBA. Osorio A, et al. Among authors: feliubadalo l. Br J Cancer. 2011 Apr 12;104(8):1356-61. doi: 10.1038/bjc.2011.91. Epub 2011 Mar 22. Br J Cancer. 2011. PMID: 21427728 Free PMC article.
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.
Font MA, Feliubadaló L, Estivill X, Nunes V, Golomb E, Kreiss Y, Pras E, Bisceglia L, d'Adamo AP, Zelante L, Gasparini P, Bassi MT, George AL Jr, Manzoni M, Riboni M, Ballabio A, Borsani G, Reig N, Fernández E, Zorzano A, Bertran J, Palacín M; International Cystinuria Consortium. Font MA, et al. Among authors: feliubadalo l. Hum Mol Genet. 2001 Feb 15;10(4):305-16. doi: 10.1093/hmg/10.4.305. Hum Mol Genet. 2001. PMID: 11157794
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.
Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.
Feliubadaló L, Arbonés ML, Mañas S, Chillarón J, Visa J, Rodés M, Rousaud F, Zorzano A, Palacín M, Nunes V. Feliubadaló L, et al. Hum Mol Genet. 2003 Sep 1;12(17):2097-108. doi: 10.1093/hmg/ddg228. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915471
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
73 results