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José Marcos Moreno-Cabrera
José Marcos Moreno-Cabrera
Bioinformatician / researcher at IDIBELL
Verified email at idibell.cat
Title
Cited by
Cited by
Year
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
982020
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
672020
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
152021
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
142020
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
122021
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
72022
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
32023
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
32021
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
12019
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
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