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Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
Del Valle J, Rofes P, Moreno-Cabrera JM, López-Dóriga A, Belhadj S, Vargas-Parra G, Teulé À, Cuesta R, Muñoz X, Campos O, Salinas M, de Cid R, Brunet J, González S, Capellá G, Pineda M, Feliubadaló L, Lázaro C. Del Valle J, et al. Cancers (Basel). 2020 Mar 30;12(4):829. doi: 10.3390/cancers12040829. Cancers (Basel). 2020. PMID: 32235514 Free PMC article.
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.