| Evaluation of CNV detection tools for NGS panel data in genetic diagnostics JM Moreno-Cabrera, J Del Valle, E Castellanos, L Feliubadaló, M Pineda, ... European Journal of Human Genetics 28 (12), 1645-1655, 2020 | 98 | 2020 |
| Exploring the role of mutations in Fanconi anemia genes in hereditary cancer patients J Del Valle, P Rofes, JM Moreno-Cabrera, A López-Dóriga, S Belhadj, ... Cancers 12 (4), 829, 2020 | 67 | 2020 |
| Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer–Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis P Rofes, S González, M Navarro, JM Moreno-Cabrera, A Solanes, ... The Journal of Molecular Diagnostics 23 (11), 1452-1459, 2021 | 15 | 2021 |
| Comprehensive analysis and ACMG‐based classification of CHEK2 variants in hereditary cancer patients G Vargas‐Parra, J Del Valle, P Rofes, M Gausachs, A Stradella, ... Human Mutation 41 (12), 2128-2142, 2020 | 14 | 2020 |
| BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort P Rofes, J Del Valle, S Torres-Esquius, L Feliubadaló, A Stradella, ... Genes 12 (2), 150, 2021 | 12 | 2021 |
| Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer JM Moreno-Cabrera, J Del Valle, L Feliubadaló, M Pineda, S González, ... Journal of Medical Genetics 59 (1), 75-78, 2022 | 7 | 2022 |
| vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines E Munté, L Feliubadaló, M Pineda, E Tornero, M Gonzalez, ... Bioinformatics 39 (3), btad128, 2023 | 3 | 2023 |
| CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools JM Moreno-Cabrera, J Del Valle, E Castellanos, L Feliubadaló, M Pineda, ... Bioinformatics 37 (22), 4227-4229, 2021 | 3 | 2021 |
| Benchmark of tools for CNV detection from NGS panel data in a genetic diagnostics context JM Moreno-Cabrera, J Valle, E Castellanos, L Feliubadaló, M Pineda, ... BioRxiv, 850958, 2019 | 1 | 2019 |
| A translational bioinformatics approach to improve genetic diagnostics of hereditary cancer using next-generation sequencing data JM Moreno Cabrera Universitat de Barcelona, 2021 | | 2021 |
| BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort. Genes 2021, 12, 150 P Rofes, J Del Valle, S Torres-Esquius, L Feliubadaló, A Stradella, ... s Note: MDPI stays neutral with regard to jurisdictional claims in published …, 2021 | | 2021 |
| Comprehensive analysis and ACMG-based classification of CHEK2 variants in Spanish hereditary cancer patients G Vargas-Parra, J del Valle, P Rofes, M Gausachs, A Stradella, ... Authorea Preprints, 2020 | | 2020 |
| Benchmark de algoritmos para la detección de CNVs con resolución de exón a partir de datos NGS de panel JM Moreno Cabrera Universitat Oberta de Catalunya, 2018 | | 2018 |
