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Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
Cancers (Basel). 2020 Mar 30;12(4):829. doi: 10.3390/cancers12040829.
Cancers (Basel). 2020.
PMID: 32235514
Free PMC article.
Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
Vargas-Parra G, Del Valle J, Rofes P, Gausachs M, Stradella A, Moreno-Cabrera JM, Velasco A, Tornero E, Menéndez M, Muñoz X, Iglesias S, López-Doriga A, Azuara D, Campos O, Cuesta R, Darder E, de Cid R, González S, Teulé A, Navarro M, Brunet J, Capellá G, Pineda M, Feliubadaló L, Lázaro C.
Vargas-Parra G, et al. Among authors: moreno cabrera jm.
Hum Mutat. 2020 Dec;41(12):2128-2142. doi: 10.1002/humu.24110. Epub 2020 Oct 14.
Hum Mutat. 2020.
PMID: 32906215
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Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.
Moreno-Cabrera JM, Del Valle J, Feliubadaló L, Pineda M, González S, Campos O, Cuesta R, Brunet J, Serra E, Capellà G, Gel B, Lázaro C.
Moreno-Cabrera JM, et al.
J Med Genet. 2022 Jan;59(1):75-78. doi: 10.1136/jmedgenet-2020-107366. Epub 2020 Nov 20.
J Med Genet. 2022.
PMID: 33219106
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BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
Rofes P, Del Valle J, Torres-Esquius S, Feliubadaló L, Stradella A, Moreno-Cabrera JM, López-Doriga A, Munté E, De Cid R, Campos O, Cuesta R, Teulé Á, Grau È, Sanz J, Capellá G, Díez O, Brunet J, Balmaña J, Lázaro C.
Rofes P, et al. Among authors: moreno cabrera jm.
Genes (Basel). 2021 Jan 23;12(2):150. doi: 10.3390/genes12020150.
Genes (Basel). 2021.
PMID: 33498765
Free PMC article.
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Evaluation of CNV detection tools for NGS panel data in genetic diagnostics.
Moreno-Cabrera JM, Del Valle J, Castellanos E, Feliubadaló L, Pineda M, Brunet J, Serra E, Capellà G, Lázaro C, Gel B.
Moreno-Cabrera JM, et al.
Eur J Hum Genet. 2020 Dec;28(12):1645-1655. doi: 10.1038/s41431-020-0675-z. Epub 2020 Jun 19.
Eur J Hum Genet. 2020.
PMID: 32561899
Free PMC article.
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CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools.
Moreno-Cabrera JM, Del Valle J, Castellanos E, Feliubadaló L, Pineda M, Serra E, Capellá G, Lázaro C, Gel B.
Moreno-Cabrera JM, et al.
Bioinformatics. 2021 Nov 18;37(22):4227-4229. doi: 10.1093/bioinformatics/btab356.
Bioinformatics. 2021.
PMID: 33983414
Free PMC article.
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Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis.
Rofes P, González S, Navarro M, Moreno-Cabrera JM, Solanes A, Darder E, Carrasco E, Iglesias S, Salinas M, Gómez C, Velasco À, Tuset N, Varela M, Llort G, Ramon Y Cajal T, Grau È, Dueñas N, de la Ossa Merlano N, Matías-Guiu X, Rivera B, Balmaña J, Pineda M, Brunet J, Capellá G, Del Valle J, Lázaro C.
Rofes P, et al. Among authors: moreno cabrera jm.
J Mol Diagn. 2021 Nov;23(11):1452-1459. doi: 10.1016/j.jmoldx.2021.07.024. Epub 2021 Aug 25.
J Mol Diagn. 2021.
PMID: 34454113
Free article.
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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: moreno cabrera jm.
Bioinformatics. 2023 Mar 1;39(3):btad128. doi: 10.1093/bioinformatics/btad128.
Bioinformatics. 2023.
PMID: 36916756
Free PMC article.
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