Publications
19. Bonjoch L, Soares de Lima Y, Díaz-Gay M, Dotti I, Muñoz J, Moreira L, Carballal S, Ocaña T, Cuatrecasas M, Ortiz O, Castells A, Pellisé M, Balaguer F, Salas A, Alexandrov LB, Castellví-Bel S. “Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome.” Frontiers in Molecular Biosciences, 2023 [doi]
18. 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. “Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor.” Cell Genomics, 2022. [doi]
17. 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. “Germline mutations in WNK2 could be associated with serrated polyposis syndrome.” Journal of Medical Genetics, 2022 [doi]
16. Díaz-Gay M, Alexandrov LB. “Unraveling the genomic landscape of colorectal cancer through mutational signatures.” Advances in Cancer Research, 2021. (Book chapter) [doi]
15. 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. “Comprehensive Genomic Characterization of Fifteen Early-Onset Lynch-Like Syndrome Colorectal Cancers.” Cancers, 2021. [doi]
14. Soares de Lima Y, Arnau-Collell C, Díaz-Gay M, Bonjoch L, Franch-Expósito S, Muñoz J, Moreira L, Ocaña T, Cuatrecasas M, Herrera-Pariente C, Carballal S, Moreno L, Díaz de Bustamante A, Castells A, Bujanda L, Cubiella J, Rodríguez-Alcalde D, Balaguer F, Castellví-Bel S. “Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome.” Cancers, 2021. [doi]
13. Herrera-Pariente C, Capó-García R, Díaz-Gay M, Carballal S, Muñoz J, Llach J, Sánchez A, Bonjoch L, Arnau-Collell C, Soares de Lima Y, Golubicki M, Jung G, Lozano JJ, Castells A, Balaguer F, Bujanda L, Castellví-Bel S, Moreira L. “Identification of New Genes Involved in Germline Predisposition to Early-Onset Gastric Cancer.” International Journal of Molecular Sciences, 2021. [doi]
12. 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. “Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome.” JCI Insight, 2020. [doi]
11. 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. “Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer.” Gastroenterology, 2020. [doi]
10. Arnau-Collell C, Soares de Lima Y, Díaz-Gay M, Muñoz J, Carballal S, Bonjoch L, Moreira L, Lozano JJ, Ocaña T, Cuatrecasas M, Díaz de Bustamante A, Castells A, Capellà G, Bujanda L, Cubiella J, Rodríguez-Alcalde D, Balaguer F, Ruiz-Ponte C, Valle L, Moreno V, Castellvi-Bel S. “Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility.” Journal of Medical Genetics, 2020. [doi]
9. Franch-Expósito S, Bassaganyas L, Vila-Casadesús M, Hernández-Illán E, Esteban-Fabró R, Díaz-Gay M, Lozano JJ, Castells A, Llovet JM, Castellví-Bel S, Camps J. “CNApp, a tool for the quantification of copy number alterations and integrative analysis revealing clinical implications.” eLife, 2020. [doi]
8. Toma C*, Díaz-Gay M*, Soares de Lima Y, Arnau-Collell C, Franch-Expósito S, Muñoz J, Overs B, Bonjoch L, Carballal S, Ocaña T, Cuatrecasas M, Díaz de Bustamante A, Castells A, Bujanda L, Cubiella J, Balaguer F, Rodríguez-Alcalde D, Fullerton JM, Castellví-Bel S. “Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing.” Clinical and Translational Gastroenterology, 2019. [doi]
7. Toma C*, Díaz-Gay M*, Franch-Expósito S, Arnau-Collell C, Overs B, Muñoz J, Bonjoch L, Soares de Lima Y, Ocaña T, Cuatrecasas M, Castells A, Bujanda L, Balaguer F, Cubiella J, Caldés T, Fullerton JM, Castellví-Bel S. “Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer.” International Journal of Cancer, 2020. [doi]
6. Grolleman JE*, Díaz-Gay M*, Franch-Expósito S, Castellví-Bel S, de Voer RM. “Somatic mutational signatures in polyposis and colorectal cancer.” Molecular Aspects of Medicine, 2019. (Review) [doi]
5. Díaz-Gay M, Franch-Expósito S, Arnau-Collell C, Park S, Supek F, Muñoz J, Bonjoch L, Gratacós-Mulleras A, Sánchez-Rojas PA, Esteban-Jurado C, Ocaña T, Cuatrecasas M, Vila-Casadesús M, Lozano JJ, Parra G, Laurie S, Beltran S; EPICOLON Consortium, Castells A, Bujanda L, Cubiella J, Balaguer F, Castellví-Bel S. “Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer.” Cancers, 2019. [doi]
4. Torabi K, Erola P, Alvarez-Mora MI, Díaz-Gay M, Ferrer Q, Castells A, Castellví-Bel S, Milà M, Lozano JJ, Miró R, Ried T, Ponsa I, Camps J. “Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers.” International Journal of Cancer, 2019. [doi]
3. Díaz-Gay M, Vila-Casadesús M, Franch-Expósito S, Hernández-Illán E, Lozano JJ, Castellví-Bel S. “Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples.” BMC Bioinformatics, 2018. [doi]
2. Franch-Expósito S, Esteban-Jurado C, Garre P, Quintanilla I, Duran-Sanchon S, Díaz-Gay M, Bonjoch L, Cuatrecasas M, Samper E, Muñoz J, Ocaña T, Carballal S, López-Cerón M, Castells A; EPICOLON consortium, Vila-Casadesús M, Derdak S, Laurie S, Beltran S, Carvajal J, Bujanda L, Ruiz-Ponte C, Camps J, Gironella M, Lozano JJ, Balaguer F, Cubiella J, Caldés T, Castellví-Bel S. “Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis.” Journal of Genetics and Genomics, 2018. [doi]
1. Esteban-Jurado C, Giménez-Zaragoza D, Muñoz J, Franch-Expósito S, Álvarez-Barona M, Ocaña T, Cuatrecasas M, Carballal S, López-Cerón M, Marti-Solano M, Díaz-Gay M, van Wezel T, Castells A, Bujanda L, Balmaña J, Gonzalo V, Llort G, Ruiz-Ponte C, Cubiella J, Balaguer F, Aligué R, Castellví-Bel S. “POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.” Oncotarget, 2017. [doi]