| Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor SMA Islam, M Díaz-Gay, Y Wu, M Barnes, R Vangara, EN Bergstrom, ... Cell genomics 2 (11), 2022 | 250 | 2022 |
| Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples M Díaz-Gay, M Vila-Casadesús, S Franch-Expósito, E Hernández-Illán, ... BMC bioinformatics 19, 1-6, 2018 | 112 | 2018 |
| CNApp, a tool for the quantification of copy number alterations and integrative analysis revealing clinical implications S Franch-Expósito, L Bassaganyas, M Vila-Casadesús, ... elife 9, e50267, 2020 | 62 | 2020 |
| POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer C Esteban-Jurado, D Giménez-Zaragoza, J Muñoz, S Franch-Exposito, ... Oncotarget 8 (16), 26732, 2017 | 52 | 2017 |
| Assigning mutational signatures to individual samples and individual somatic mutations with SigProfilerAssignment M Díaz-Gay, R Vangara, M Barnes, X Wang, SMA Islam, I Vermes, S Duke, ... Bioinformatics 39 (12), btad756, 2023 | 51 | 2023 |
| Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome M Golubicki, L Bonjoch, JG Acuña-Ochoa, M Díaz-Gay, J Muñoz, ... JCI insight 5 (18), 2020 | 33 | 2020 |
| Topography of mutational signatures in human cancer B Otlu, M Díaz-Gay, I Vermes, EN Bergstrom, M Zhivagui, M Barnes, ... Cell reports 42 (8), 2023 | 28 | 2023 |
| Geographic variation of mutagenic exposures in kidney cancer genomes S Senkin, S Moody, M Díaz-Gay, B Abedi-Ardekani, T Cattiaux, ... Nature, 1-9, 2024 | 27 | 2024 |
| Unraveling the genomic landscape of colorectal cancer through mutational signatures M Díaz-Gay, LB Alexandrov Advances in Cancer Research, 2021 | 26 | 2021 |
| Integrated analysis of germline and tumor DNA identifies new candidate genes involved in familial colorectal cancer M Díaz-Gay, S Franch-Exposito, C Arnau-Collell, S Park, F Supek, ... Cancers 11 (3), 362, 2019 | 23 | 2019 |
| Germline mutations in FAF1 are associated with hereditary colorectal cancer L Bonjoch, S Franch-Expósito, P Garre, S Belhadj, J Muñoz, ... Gastroenterology 159 (1), 227-240. e7, 2020 | 22 | 2020 |
| Germline and somatic whole-exome sequencing identifies new candidate genes involved in familial predisposition to serrated polyposis syndrome Y Soares de Lima, C Arnau-Collell, M Díaz-Gay, L Bonjoch, ... Cancers 13 (4), 929, 2021 | 20 | 2021 |
| Somatic mutational signatures in polyposis and colorectal cancer JE Grolleman, M Diaz-Gay, S Franch-Exposito, S Castellvi-Bel, ... Molecular Aspects of Medicine 69, 62-72, 2019 | 19 | 2019 |
| Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis S Franch-Expósito, C Esteban-Jurado, P Garre, I Quintanilla, ... Journal of Genetics and Genomics, 2017 | 19 | 2017 |
| Deep learning artificial intelligence predicts homologous recombination deficiency and platinum response from histologic slides EN Bergstrom, A Abbasi, M Díaz-Gay, L Galland, S Ladoire, SM Lippman, ... Journal of Clinical Oncology 42 (30), 3550-3560, 2024 | 17* | 2024 |
| Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility C Arnau-Collell, YS de Lima, M Díaz-Gay, J Muñoz, S Carballal, ... Journal of Medical Genetics 57 (10), 677-682, 2020 | 16 | 2020 |
| Identification of new genes involved in germline predisposition to early-onset gastric cancer C Herrera-Pariente, R Capó-García, M Díaz-Gay, S Carballal, J Muñoz, ... International Journal of Molecular Sciences 22 (3), 1310, 2021 | 14 | 2021 |
| Visualizing and exploring patterns of large mutational events with SigProfilerMatrixGenerator A Khandekar, R Vangara, M Barnes, M Díaz-Gay, A Abbasi, ... BMC genomics 24 (1), 469, 2023 | 11 | 2023 |
| Using linkage studies combined with whole‐exome sequencing to identify novel candidate genes for familial colorectal cancer C Toma, M Díaz‐Gay, S Franch‐Expósito, C Arnau‐Collell, B Overs, ... International Journal of Cancer 146 (6), 1568-1577, 2020 | 11 | 2020 |
| Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers K Torabi, P Erola, MI Alvarez‐Mora, M Díaz‐Gay, Q Ferrer, A Castells, ... International Journal of Cancer 144 (3), 513-524, 2019 | 10 | 2019 |
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