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Genes|January 27, 2021
BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer CohortPaula Rofes, Jesús Del Valle, Sara Torres-Esquius, et al.
Clinical Immunology (Orlando, Fla.)|April 4, 2025
Autoantibodies neutralizing type I interferons remain a significant risk factor for critical COVID-19 pneumonia in vaccinated patientsArnau Antolí, José Luis Gómez-Vázquez, Angels Sierra-Fortuny, et al.
European Journal of Human Genetics : EJHG|March 17, 2026
Optimizing GRIDSS for clinical use: A targeted NGS filtering strategy for germline structural variant detectionElisabet Munté, Paula Rofes, Miriam Millán-Castillo, et al.
Human Mutation|September 9, 2020
Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patientsGardenia Vargas-Parra, Jesús Del Valle, Paula Rofes, et al.
The Journal of Molecular Diagnostics : JMD|August 28, 2021
Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous PolyposisPaula Rofes, Sara González, Matilde Navarro, et al.
Genome Medicine|February 3, 2024
Biological basis of extensive pleiotropy between blood traits and cancer riskMiguel Angel Pardo-Cea, Xavier Farré, Anna Esteve, et al.
JCO Precision Oncology|April 16, 2026
Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative VariantsNelson Martins, Mariona Terradas, José Garcia-Pelaez, et al.
Human Mutation|May 28, 2019
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classificationMichael T Parsons, Emma Tudini, Hongyan Li, et al.
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