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Topography of mutational signatures in human cancer.
Otlu B, Díaz-Gay M, Vermes I, Bergstrom EN, Zhivagui M, Barnes M, Alexandrov LB. Otlu B, et al. Among authors: diaz gay m. Cell Rep. 2023 Aug 29;42(8):112930. doi: 10.1016/j.celrep.2023.112930. Epub 2023 Aug 4. Cell Rep. 2023. PMID: 37540596 Free PMC article.
Somatic mutational signatures in polyposis and colorectal cancer.
Grolleman JE, Díaz-Gay M, Franch-Expósito S, Castellví-Bel S, de Voer RM. Grolleman JE, et al. Among authors: diaz gay m. Mol Aspects Med. 2019 Oct;69:62-72. doi: 10.1016/j.mam.2019.05.002. Epub 2019 May 23. Mol Aspects Med. 2019. PMID: 31108140 Free article. Review.
Germline mutations in WNK2 could be associated with serrated polyposis syndrome.
Soares de Lima Y, Arnau-Collell C, Muñoz J, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Franch-Expósito S, Cuatrecasas M, Carballal S, Lopez-Novo A, Moreno L, Fernàndez G, Díaz de Bustamante A, Peters S, Sommer AK, Spier I, Te Paske IBAW, van Herwaarden YJ, Castells A, Bujanda L, Capellà G, Steinke-Lange V, Mahmood K, Joo JE, Arnold J, Parry S, Macrae FA, Winship IM, Rosty C, Cubiella J, Rodríguez-Alcalde D, Holinski-Feder E, de Voer R, Buchanan DD, Aretz S, Ruiz-Ponte C, Valle L, Balaguer F, Bonjoch L, Castellvi-Bel S. Soares de Lima Y, et al. Among authors: diaz gay m. J Med Genet. 2023 Jun;60(6):557-567. doi: 10.1136/jmg-2022-108684. Epub 2022 Oct 21. J Med Genet. 2023. PMID: 36270769 Free PMC article.
Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor.
Islam SMA, Díaz-Gay M, Wu Y, Barnes M, Vangara R, Bergstrom EN, He Y, Vella M, Wang J, Teague JW, Clapham P, Moody S, Senkin S, Li YR, Riva L, Zhang T, Gruber AJ, Steele CD, Otlu B, Khandekar A, Abbasi A, Humphreys L, Syulyukina N, Brady SW, Alexandrov BS, Pillay N, Zhang J, Adams DJ, Martincorena I, Wedge DC, Landi MT, Brennan P, Stratton MR, Rozen SG, Alexandrov LB. Islam SMA, et al. Among authors: diaz gay m. Cell Genom. 2022 Nov 9;2(11):None. doi: 10.1016/j.xgen.2022.100179. Cell Genom. 2022. PMID: 36388765 Free PMC article.
Comprehensive Genomic Characterization of Fifteen Early-Onset Lynch-Like Syndrome Colorectal Cancers.
Golubicki M, Díaz-Gay M, Bonjoch L, Franch-Expósito S, Muñoz J, Cuatrecasas M, Ocaña T, Iseas S, Mendez G, Carballido M, Robbio J, Cisterna D, Roca E, Castells A, Balaguer F, Castellví-Bel S, Antelo M. Golubicki M, et al. Among authors: diaz gay m. Cancers (Basel). 2021 Mar 12;13(6):1259. doi: 10.3390/cancers13061259. Cancers (Basel). 2021. PMID: 33809179 Free PMC article.
Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer.
Bonjoch L, Franch-Expósito S, Garre P, Belhadj S, Muñoz J, Arnau-Collell C, Díaz-Gay M, Gratacós-Mulleras A, Raimondi G, Esteban-Jurado C, Soares de Lima Y, Herrera-Pariente C, Cuatrecasas M, Ocaña T, Castells A, Fillat C, Capellá G, Balaguer F, Caldés T, Valle L, Castellví-Bel S. Bonjoch L, et al. Among authors: diaz gay m. Gastroenterology. 2020 Jul;159(1):227-240.e7. doi: 10.1053/j.gastro.2020.03.015. Epub 2020 Mar 14. Gastroenterology. 2020. PMID: 32179092 Free article.
Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome.
Golubicki M, Bonjoch L, Acuña-Ochoa JG, Díaz-Gay M, Muñoz J, Cuatrecasas M, Ocaña T, Iseas S, Mendez G, Cisterna D, Schubert SA, Nielsen M, van Wezel T, Goldberg Y, Pikarsky E, Robbio J, Roca E, Castells A, Balaguer F, Antelo M, Castellví-Bel S. Golubicki M, et al. Among authors: diaz gay m. JCI Insight. 2020 Sep 17;5(18):e140698. doi: 10.1172/jci.insight.140698. JCI Insight. 2020. PMID: 32841224 Free PMC article.
27 results