José Marcos Moreno-Cabrera

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics

José Marcos Moreno-Cabrera, Jesús Del Valle, Elisabeth Castellanos et al. · European Journal of Human Genetics · 2020 · 114 citations · Full text

Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients

Jesús Del Valle, Paula Rofes, José Marcos Moreno-Cabrera et al. · Cancers · 2020 · 82 citations · Full text

Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer–Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis

Paula Rofes, Sara González, Matilde Navarro et al. · Journal of Molecular Diagnostics · 2021 · 31 citations

Apc Mosaicism, Somatic Variant, Cancer Pathology +11

Comprehensive analysis and ACMG‐based classification of <i>CHEK2</i> variants in hereditary cancer patients

Gardenia Vargas‐Parra, Jesús Del Valle, Paula Rofes et al. · Human Mutation · 2020 · 16 citations

Breast Oncology, Cancer Pathology, Acmg‐based Classification +21

BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort

Paula Rofes, Jesús Del Valle, Sara Torres‐Esquius et al. · Genes · 2021 · 16 citations · Full text