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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
1392022
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
982018
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
552020
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
502017
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
242020
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
202020
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
202019
Unraveling the genomic landscape of colorectal cancer through mutational signatures
M Díaz-Gay, LB Alexandrov
Advances in Cancer Research, 2021
182021
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
182017
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
162019
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
142021
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
142020
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
132023
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
112020
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
92021
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
92019
Identification of a novel candidate gene for serrated polyposis syndrome germline predisposition by performing linkage analysis combined with whole-exome sequencing
C Toma, M Diaz-Gay, YS de Lima, C Arnau-Collell, S Franch-Exposito, ...
Clinical and translational gastroenterology 10 (10), e00100, 2019
72019
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
62023
Comprehensive genomic characterization of fifteen early-onset Lynch-like syndrome colorectal cancers
M Golubicki, M Díaz-Gay, L Bonjoch, S Franch-Expósito, J Muñoz, ...
Cancers 13 (6), 1259, 2021
62021
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
42023
En aquests moments el sistema no pot dur a terme l'operació. Torneu-ho a provar més tard.
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