| 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 |
| Primary constitutional MLH1 epimutations: a focal epigenetic event E Dámaso, A Castillejo, MM Arias, J Canet-Hermida, M Navarro, ... British Journal of Cancer 119 (8), 978-987, 2018 | 27 | 2018 |
| 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 |
| The challenge of diagnosing constitutional mismatch repair deficiency syndrome in brain malignancies from young individuals C Carrato, C Sanz, AM Muñoz-Mármol, I Blanco, M Pineda, J Del Valle, ... International journal of molecular sciences 22 (9), 4629, 2021 | 13 | 2021 |
| 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 |
| Co‐occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome R Ferrer‐Avargues, MI Castillejo, E Dámaso, V Díez‐Obrero, N Garrigos, ... Cancer communications 41 (3), 218-228, 2021 | 9 | 2021 |
| MLH1-methylated endometrial cancer under 60 years of age as the “sentinel” cancer in female carriers of high-risk constitutional MLH1 epimutation MP Hitchins, R Alvarez, L Zhou, F Aguirre, E Dámaso, M Pineda, ... Gynecologic oncology 171, 129-140, 2023 | 8 | 2023 |
| Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group M Morak, M Pineda, A Martins, P Gaildrat, H Tubeuf, A Drouet, C Gómez, ... European Journal of Human Genetics 30 (9), 1051-1059, 2022 | 6 | 2022 |
| Constitutional MLH1 methylation is a major contributor to Mismatch Repair–Deficient, MLH1-Methylated colorectal Cancer in patients aged 55 years and younger MP Hitchins, E Dámaso, R Alvarez, L Zhou, Y Hu, MA Diniz, M Pineda, ... Journal of the National Comprehensive Cancer Network 21 (7), 743-752. e11, 2023 | 5 | 2023 |
| Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome E Dámaso, A Castillejo Castillo, M Robledo, A Teule, C LAZARO GARCIA, ... BMC, 2024 | | 2024 |
| Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome AB Sánchez-Heras, E Dámaso, A Castillejo, M Robledo, A Teulé, ... Orphanet Journal of Rare Diseases 19 (1), 26, 2024 | | 2024 |
| SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population JM Moreno-Cabrera, L Feliubadaló, M Pineda, P Prada-Dacasa, ... Database 2024, baae055, 2024 | | 2024 |
| Genetic and chromatin characterization to unveil the underlying cause of primary constitutional MLH1 epimutation P Climent-Canto, M Ramos-Rodriguez, M Subirana-Granes, E Damaso, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 571-571, 2024 | | 2024 |
| High-risk constitutional MLH1 methylation as a cause of early-onset colorectal and endometrial cancers displaying mismatch repair deficiency and MLH1 methylation. MP Hitchins, R Alvarez, FP Aguirre, L Zhou, MA Diniz, X Yuan, E Damaso, ... Journal of Clinical Oncology 41 (16_suppl), 10518-10518, 2023 | | 2023 |
| Identification of two Lynch syndrome families harboring inherited MLH1 epimutations C Vara, A Bujosa, J Canet, C Lopez, M Salinas, E Damaso, A Lasa, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 408-409, 2022 | | 2022 |
| Hereditary leiomyomatosis and renal cell carcinoma: identification and characterization of a new Spanish founder mutation in the FH gene E Damaso, AB Sanchez Heras, Y Esteve, V Diez Obrero, MI Castillejo, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 401-402, 2022 | | 2022 |
| Whole Exome Sequencing approach identified candidate genetic modifiers of Lynch syndrome penetrance E Damaso, A Castillejo, A Sanchez-Heras, M Castillejo, J Soto EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 530-530, 2020 | | 2020 |
| RASSF10, a new gene associated to hereditary forms of Bipolar Disorder? E Damaso, A Culianez-Casas, I Lara-Espejo, M Castillejo, A Castillejo, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 878-878, 2020 | | 2020 |
| Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals M González-Acosta, G Vargas-Parra, M Navarro, J Balmaña Gelpí, ... MDPI, 2020 | | 2020 |
| Pitfalls in Lynch syndrome genetic testing: a case of a polymorphic variant in primer-annealing sequence leading to the wildtype allele dropout in MLH1 gene E Damaso, R Ferrer-Avargues, A Castillejo, M Castillejo, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1578-1579, 2019 | | 2019 |
