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Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition.
Rodriguez-Martin B, Alvarez EG, Baez-Ortega A, Zamora J, Supek F, Demeulemeester J, Santamarina M, Ju YS, Temes J, Garcia-Souto D, Detering H, Li Y, Rodriguez-Castro J, Dueso-Barroso A, Bruzos AL, Dentro SC, Blanco MG, Contino G, Ardeljan D, Tojo M, Roberts ND, Zumalave S, Edwards PA, Weischenfeldt J, Puiggròs M, Chong Z, Chen K, Lee EA, Wala JA, Raine KM, Butler A, Waszak SM, Navarro FCP, Schumacher SE, Monlong J, Maura F, Bolli N, Bourque G, Gerstein M, Park PJ, Wedge DC, Beroukhim R, Torrents D, Korbel JO, Martincorena I, Fitzgerald RC, Van Loo P, Kazazian HH, Burns KH; PCAWG Structural Variation Working Group; Campbell PJ, Tubio JMC; PCAWG Consortium. Rodriguez-Martin B, et al. Among authors: torrents d. Nat Genet. 2020 Mar;52(3):306-319. doi: 10.1038/s41588-019-0562-0. Epub 2020 Feb 5. Nat Genet. 2020. PMID: 32024998 Free PMC article.
Germline NPAT inactivating variants as cause of hereditary colorectal cancer.
Terradas M, Schubert SA, Viana-Errasti J, Ruano D, Aiza G, Nielsen M, Marciel P, Tops CM, Parra G, Morreau H, Torrents D, van Leerdam ME, Capellá G, de Miranda NFCC, Valle L, van Wezel T. Terradas M, et al. Among authors: torrents d. Eur J Hum Genet. 2024 May 22. doi: 10.1038/s41431-024-01625-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38778081
The 1+Million Genomes Minimal Dataset for Cancer.
Riba M, Sala C, Culhane AC, Flobak Å, Patocs A, Boye K, Plevova K, Pospíšilová Š, Gandolfi G, Morelli MJ, Bucci G, Edsjö A, Lassen U, Al-Shahrour F, Lopez-Bigas N, Hovland R, Cuppen E, Valencia A, Poirel HA, Rosenquist R, Scollen S, Arenas Marquez J, Belien J, De Nicolo A, De Maria R, Torrents D, Tonon G. Riba M, et al. Among authors: torrents d. Nat Genet. 2024 May;56(5):733-736. doi: 10.1038/s41588-024-01721-x. Nat Genet. 2024. PMID: 38702538 No abstract available.
Mutational topography reflects clinical neuroblastoma heterogeneity.
Rodriguez-Fos E, Planas-Fèlix M, Burkert M, Puiggròs M, Toedling J, Thiessen N, Blanc E, Szymansky A, Hertwig F, Ishaque N, Beule D, Torrents D, Eggert A, Koche RP, Schwarz RF, Haase K, Schulte JH, Henssen AG. Rodriguez-Fos E, et al. Among authors: torrents d. Cell Genom. 2023 Sep 7;3(10):100402. doi: 10.1016/j.xgen.2023.100402. eCollection 2023 Oct 11. Cell Genom. 2023. PMID: 37868040 Free PMC article.
Wnt genes in colonic polyposis predisposition.
Quintana I, Terradas M, Mur P, Te Paske IBAW, Peters S, Spier I, Steinke-Lange V, Maestro C, Torrents D, Puiggròs M, Royo R, Tonda R, Parra G, Piscia D, Beltrán S, Navarro M, Piñol V, Brunet J, Gonzalez-Abuin N, Aiza G, Sommer A, van Herwaarden Y, Astuti G, Holinski-Feder E, Hoogerbrugge N, de Voer RM, Aretz S, Capellá G, Valle L. Quintana I, et al. Among authors: torrents d. Genes Dis. 2022 Dec 29;10(3):753-757. doi: 10.1016/j.gendis.2022.12.002. eCollection 2023 May. Genes Dis. 2022. PMID: 37396538 Free PMC article. No abstract available.
A transposase-derived gene required for human brain development.
Zapater LJ, Rodriguez-Fos E, Planas-Felix M, Lewis S, Cameron D, Demarest P, Nabila A, Zhao J, Bergin P, Reed C, Yamada M, Pagnozzi A, Nava C, Bourel-Ponchel E, Neilson DE, Dursun A, Özgül RK, Akar HT, Socci ND, Hayes M, Rabadan R, Torrents D, Kruer MC, Toth M, Kentsis A. Zapater LJ, et al. Among authors: torrents d. bioRxiv [Preprint]. 2023 May 23:2023.04.28.538770. doi: 10.1101/2023.04.28.538770. bioRxiv. 2023. PMID: 37163102 Free PMC article. Preprint.
Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition.
Rodriguez-Martin B, Alvarez EG, Baez-Ortega A, Zamora J, Supek F, Demeulemeester J, Santamarina M, Ju YS, Temes J, Garcia-Souto D, Detering H, Li Y, Rodriguez-Castro J, Dueso-Barroso A, Bruzos AL, Dentro SC, Blanco MG, Contino G, Ardeljan D, Tojo M, Roberts ND, Zumalave S, Edwards PA, Weischenfeldt J, Puiggròs M, Chong Z, Chen K, Lee EA, Wala JA, Raine KM, Butler A, Waszak SM, Navarro FCP, Schumacher SE, Monlong J, Maura F, Bolli N, Bourque G, Gerstein M, Park PJ, Wedge DC, Beroukhim R, Torrents D, Korbel JO, Martincorena I, Fitzgerald RC, Van Loo P, Kazazian HH, Burns KH; PCAWG Structural Variation Working Group; Campbell PJ, Tubio JMC; PCAWG Consortium. Rodriguez-Martin B, et al. Among authors: torrents d. Nat Genet. 2023 Jun;55(6):1080. doi: 10.1038/s41588-023-01319-9. Nat Genet. 2023. PMID: 36944736 Free PMC article. No abstract available.
154 results