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Page 1
Somatic evolution of marine transmissible leukemias in the common cockle, Cerastoderma edule.
Bruzos AL, Santamarina M, García-Souto D, Díaz S, Rocha S, Zamora J, Lee Y, Viña-Feás A, Quail MA, Otero I, Pequeño-Valtierra A, Temes J, Rodriguez-Castro J, Aramburu L, Vidal-Capón A, Villanueva A, Costas D, Rodríguez R, Prieto T, Tomás L, Alvariño P, Alonso J, Cao A, Iglesias D, Carballal MJ, Amaral AM, Balseiro P, Calado R, El Khalfi B, Izagirre U, de Montaudouin X, Pade NG, Probert I, Ricardo F, Ruiz P, Skazina M, Smolarz K, Pasantes JJ, Villalba A, Ning Z, Ju YS, Posada D, Demeulemeester J, Baez-Ortega A, Tubio JMC. Bruzos AL, et al. Among authors: santamarina m. Nat Cancer. 2023 Nov;4(11):1575-1591. doi: 10.1038/s43018-023-00641-9. Epub 2023 Oct 2. Nat Cancer. 2023. PMID: 37783803
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: santamarina m. 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.
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: santamarina m. 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.
Haplotype-resolved diverse human genomes and integrated analysis of structural variation.
Ebert P, Audano PA, Zhu Q, Rodriguez-Martin B, Porubsky D, Bonder MJ, Sulovari A, Ebler J, Zhou W, Serra Mari R, Yilmaz F, Zhao X, Hsieh P, Lee J, Kumar S, Lin J, Rausch T, Chen Y, Ren J, Santamarina M, Höps W, Ashraf H, Chuang NT, Yang X, Munson KM, Lewis AP, Fairley S, Tallon LJ, Clarke WE, Basile AO, Byrska-Bishop M, Corvelo A, Evani US, Lu TY, Chaisson MJP, Chen J, Li C, Brand H, Wenger AM, Ghareghani M, Harvey WT, Raeder B, Hasenfeld P, Regier AA, Abel HJ, Hall IM, Flicek P, Stegle O, Gerstein MB, Tubio JMC, Mu Z, Li YI, Shi X, Hastie AR, Ye K, Chong Z, Sanders AD, Zody MC, Talkowski ME, Mills RE, Devine SE, Lee C, Korbel JO, Marschall T, Eichler EE. Ebert P, et al. Among authors: santamarina m. Science. 2021 Apr 2;372(6537):eabf7117. doi: 10.1126/science.abf7117. Epub 2021 Feb 25. Science. 2021. PMID: 33632895 Free PMC article.
Childhood, adolescent and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers.
Li S, Madanat-Harjuoja L, Leslie G, Barnes DR, Bolla MK, Dennis J, Parsons MT, Apostolou P, Arnold N, Bosse K, On Behalf Of Embrace Collaborators ACA, Cook J, Engel C, Evans DG, Fostira F, Frone MN, Gehrig A, Greene MH, Hackmann K, Hahnen E, Harbeck N, Hauke J, Hentschel J, Horvath J, Izatt L, Kiechle M, Konstantopoulou I, Lalloo F, Yie JNY, Niederacher D, Ritter J, Santamariña M, Schmutzler RK, Searle C, Sutter C, Tischkowitz M, Tripathi V, Vega A, Wallaschek H, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Zhao E, Easton DF, Antoniou AC, Chenevix-Trench G, Rebbeck TR, Diller LR. Li S, et al. Among authors: santamarina m. J Natl Cancer Inst. 2024 Nov 25:djae306. doi: 10.1093/jnci/djae306. Online ahead of print. J Natl Cancer Inst. 2024. PMID: 39585318
[Disappearing bone disease of the shoulder (Gorham-Stout Syndrom)].
Urquieta MS, Gutiérrez M, Arancibia J, Reid H, Acuña C, Oyarzo M, Santamarina M, Vega J. Urquieta MS, et al. Among authors: santamarina m. Rev Med Chil. 2023 Nov;151(11):1542-1548. doi: 10.4067/s0034-98872023001101542. Rev Med Chil. 2023. PMID: 39270123 Free article. Spanish.
109 results