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Scientific Reports|November 26, 2021
RNA assay identifies a previous misclassification of BARD1 c.1977A>G variantPaula Rofes, Marta Pineda, Lídia Feliubadaló, et al.Plos One|September 27, 2018
Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predispositionLorena Martin-Morales, Paula Rofes, Eduardo Diaz-Rubio, et al.Cancer Medicine|April 1, 2024
Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretationPaula Rofes, Núria Dueñas, Jesús Del Valle, et al.The Journal of Molecular Diagnostics : JMD|October 4, 2020
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 GuidelinesPaula Rofes, Mireia Menéndez, Sara González, et al.Journal of Medical Genetics|December 24, 2018
Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?Agostina Stradella, Jesús Del Valle, Paula Rofes, et al.Journal of Clinical Immunology|May 27, 2025
From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 SeverityArnau Antolí, Gardenia Vargas-Parra, Angels Sierra-Fortuny, et al.Genome Medicine|January 14, 2025
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection ratePaula Rofes, Carmen Castillo-Manzano, Mireia Menéndez, et al.Cancers|April 3, 2020
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer PatientsJesús Del Valle, Paula Rofes, José Marcos Moreno-Cabrera, et al.European Journal of Human Genetics : EJHG|June 23, 2026
BRCA1 c.68_69del as a founder variant in the Spanish Roma: prevalence and screening implicationsAres Solanes-Cabús, Carmen Castillo-Manzano, Paula Rofes, et al.European Journal of Cancer (Oxford, England : 1990)|October 30, 2020
ERCC3, a new ovarian cancer susceptibility gene?Agostina Stradella, Jesús Del Valle, Paula Rofes, et al.Pageof 2