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Paula Rofes

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
2019 · Michael T. Parsons, Emma Tudini, et al. · Human Mutation · 145
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Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients
2020 · Jesús del Valle, Paula Rofes, et al. · Cancers · 84
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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
2021 · Paula Rofes, Sara González, et al. · Journal of Molecular Diagnostics · 32
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Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
2018 · Agostina Stradella, Jesús del Valle, et al. · Journal of Medical Genetics · 25
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Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition
2018 · Lorena Martin-Morales, Paula Rofes, et al. · PLoS ONE · 25
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ERCC3, a new ovarian cancer susceptibility gene?
2020 · Agostina Stradella, Jesús del Valle, et al. · European Journal of Cancer · 18
BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort
2021 · Paula Rofes, Jesús Del Valle, et al. · Genes · 17
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Comprehensive analysis and ACMG‐based classification of CHEK2 variants in hereditary cancer patients
2020 · Gardenia Vargas‐Parra, Jesús Valle, et al. · Human Mutation · 16
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Improving Genetic Testing in Hereditary Cancer by RNA Analysis
2020 · Paula Rofes, Mireia Menéndez, et al. · Journal of Molecular Diagnostics · 14
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Biological basis of extensive pleiotropy between blood traits and cancer risk
2024 · Miguel Angel Pardo-Cea, Xavier Farré, et al. · Genome Medicine · 12
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TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate
2025 · Paula Rofes, Carmen Castillo-Manzano, et al. · Genome Medicine · 10
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Autoantibodies neutralizing type I interferons remain a significant risk factor for critical COVID-19 pneumonia in vaccinated patients
2025 · Arnau Antolí, José Luis Gómez-Vázquez, et al. · Clinical Immunology · 7
Mosaicism in PTEN—new case and comment on the literature
2022 · Paula Rofes, Álex Teulé, et al. · European Journal of Human Genetics · 7
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From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity
2025 · Arnau Antolí, Gardenia Vargas-Parra, et al. · Journal of Clinical Immunology · 6
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Tumor analysis of MMR genes in Lynch‐like syndrome: Challenges associated with results interpretation
2024 · Paula Rofes, Núria Dueñas, et al. · Cancer Medicine · 2
Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants
2026 · Nelson Martins, Mariona Terradas, et al. · JCO Precision Oncology · 1
Optimizing GRIDSS for clinical use: A targeted NGS filtering strategy for germline structural variant detection
2026 · Elisabet Munté, Paula Rofes, et al. · European Journal of Human Genetics · 1
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BRCA1 c.68_69del as a founder variant in the Spanish Roma: prevalence and screening implications
2026 · Ares Solanes-Cabús, Carmen Castillo-Manzano, et al. · European Journal of Human Genetics
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APC Mosaicism: The Limited Utility of Ancillary Testing in Normal Colonic Mucosa
2026 · Paula Rofes, Conxi Lázaro, et al. · Gastroenterology
Tumor analysis of MMR genes in Lynch-like syndrome: challenges associated to results interpretation
2023 · Marta Pineda, Paula Rofes, et al. · Research Square
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RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant
2021 · Paula Rofes, Marta Pineda, et al. · Scientific Reports
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Comprehensive analysis and ACMG-based classification of CHEK2 variants in Spanish hereditary cancer patients
2020 · Gardenia Vargas-Parra, Jesus del Valle, et al.
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Whole-exome sequencing approach for the identification of high-risk genetic variants in FCC-X families
2017 · Lorena Martín Morales, Alicia Tosar, et al.
Works count: 29
Citation count: 422
H-index: 10
I10-index: 11
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