Paula Rofes

Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification

Michael T. Parsons, Emma Tudini, Hongyan Li et al. · Human Mutation · 2019 · 148 citations · Full text

Genetics, Genetic Epidemiology, Pathology +25

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

Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition

Lorena Martín-Morales, Paula Rofes, Eduardo Díaz‐Rubio et al. · PLoS ONE · 2018 · 24 citations · Full text

Somatic Variant, Multigene Panel, Medicine +12

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

Agostina Stradella, Jesús Del Valle, Paula Rofes et al. · Journal of Medical Genetics · 2018 · 22 citations · Full text