New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis L Valle, E Hernández-Illán, F Bellido, G Aiza, A Castillejo, MI Castillejo, ... Human molecular genetics 23 (13), 3506-3512, 2014 | 193 | 2014 |
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification MT Parsons, E Tudini, H Li, E Hahnen, B Wappenschmidt, L Feliubadaló, ... Human mutation 40 (9), 1557-1578, 2019 | 136 | 2019 |
Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19 X Solanich, G Vargas-Parra, CI Van der Made, A Simons, ... Frontiers in immunology 12, 719115, 2021 | 93 | 2021 |
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients A Castillejo, G Vargas, MI Castillejo, M Navarro, VM Barberá, S González, ... European Journal of Cancer 50 (13), 2241-2250, 2014 | 84 | 2014 |
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 | 77 | 2020 |
MLH1 methylation screening is effective in identifying epimutation carriers M Pineda, P Mur, MD Iniesta, E Borràs, O Campos, G Vargas, S Iglesias, ... European journal of human genetics 20 (12), 1256-1264, 2012 | 54 | 2012 |
Elucidating the molecular basis of MSH2‐deficient tumors by combined germline and somatic analysis GM Vargas‐Parra, M González‐Acosta, BA Thompson, C Gómez, ... International journal of cancer 141 (7), 1365-1380, 2017 | 33 | 2017 |
Comprehensive constitutional genetic and epigenetic characterization of Lynch-like individuals E Dámaso, M González-Acosta, G Vargas-Parra, M Navarro, J Balmaña, ... Cancers 12 (7), 1799, 2020 | 20 | 2020 |
Does multilocus inherited neoplasia alleles syndrome have severe clinical expression? A Stradella, J Del Valle, P Rofes, L Feliubadaló, ÈG Garces, À Velasco, ... Journal of medical genetics 56 (8), 521-525, 2019 | 19 | 2019 |
Tumor xenograft modeling identifies an association between TCF4 loss and breast cancer chemoresistance G Ruiz de Garibay, F Mateo, A Stradella, R Valdes-Mas, L Palomero, ... Disease models & mechanisms 11 (5), dmm032292, 2018 | 18 | 2018 |
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 | 15 | 2020 |
ERCC3, a new ovarian cancer susceptibility gene? A Stradella, J Del Valle, P Rofes, G Vargas-Parra, M Salinas, S González, ... European Journal of Cancer 141, 1-8, 2020 | 13 | 2020 |
Approaches to functionally validate candidate genetic variants involved in colorectal cancer predisposition L Bonjoch, P Mur, C Arnau-Collell, G Vargas-Parra, B Shamloo, ... Molecular Aspects of Medicine 69, 27-40, 2019 | 13 | 2019 |
Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation E Dámaso, J Canet-Hermida, G Vargas-Parra, À Velasco, F Marín, ... Clinical Epigenetics 11, 1-10, 2019 | 12 | 2019 |
Improving genetic testing in hereditary cancer by RNA analysis: Tools to prioritize splicing studies and challenges in applying American College of Medical Genetics and … P Rofes, M Menéndez, S González, E Tornero, C Gómez, G Vargas-Parra, ... The Journal of Molecular Diagnostics 22 (12), 1453-1468, 2020 | 11 | 2020 |
Genetic screening for TLR7 variants in young and previously healthy men with severe COVID-19: a case series X Solanich, G Vargas-Parra, CI van der Made, A Simons, ... medRxiv, 2021.03. 14.21252289, 2021 | 4 | 2021 |
The molecular basis of Lynch-like syndrome G Vargas-Parra, M Navarro, M Pineda, G Capellá Hereditary Colorectal Cancer: Genetic Basis and Clinical Implications, 21-41, 2018 | 4 | 2018 |
Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review L Lo Riso, G Vargas-Parra, G Navarro, L Arenillas, ... Genes 13 (10), 1686, 2022 | 3 | 2022 |
Photoelectron spectroscopy for surface analysis: x-ray and UV excitation L Calvo Barrio, GM Vargas Parra Capítol del llibre: Handbook of instrumental techniques for materials …, 2012 | 2 | 2012 |
Tumor xenograft modeling identifies TCF4/ITF2 loss associated with breast cancer chemoresistance GR de Garibay, F Mateo, A Stradella, R Valdés-Mas, L Palomero, ... Disease models & mechanisms, 2018 | 1 | 2018 |