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Page 1
Heritable defects in telomere and mitotic function selectively predispose to sarcomas.
Ballinger ML, Pattnaik S, Mundra PA, Zaheed M, Rath E, Priestley P, Baber J, Ray-Coquard I, Isambert N, Causeret S, van der Graaf WTA, Puri A, Duffaud F, Le Cesne A, Seddon B, Chandrasekar C, Schiffman JD, Brohl AS, James PA, Kurtz JE, Penel N, Myklebost O, Meza-Zepeda LA, Pickett H, Kansara M, Waddell N, Kondrashova O, Pearson JV, Barbour AP, Li S, Nguyen TL, Fatkin D, Graham RM, Giannoulatou E, Green MJ, Kaplan W, Ravishankar S, Copty J, Powell JE, Cuppen E, van Eijk K, Veldink J, Ahn JH, Kim JE, Randall RL, Tucker K, Judson I, Sarin R, Ludwig T, Genin E, Deleuze JF; French Exome Project Consortium; Haber M, Marshall G, Cairns MJ, Blay JY; International Sarcoma Kindred Study; Thomas DM, Tattersall M, Neuhaus S, Lewis C, Tucker K, Carey-Smith R, Wood D, Porceddu S, Dickinson I, Thorne H, James P, Ray-Coquard I, Blay JY, Cassier P, Le Cesne A, Duffaud F, Penel N, Isambert N, Kurtz JE, Puri A, Sarin R, Ahn JH, Kim JE, Ward I, Judson I, van der Graaf W, Seddon B, Chandrasekar C, Rickar R, Hennig I, Schiffman J, Randall RL, Silvestri A, Zaratzian A, Tayao M, Walwyn K, Niedermayr E, Mang D, Clark R, Thorpe T, MacDonald J, Riddell K, Mar J, Fennelly V, Wicht A, Zielony B, Gallig… See abstract for full author list ➔ Ballinger ML, et al. Among authors: cuppen e. Science. 2023 Jan 20;379(6629):253-260. doi: 10.1126/science.abj4784. Epub 2023 Jan 19. Science. 2023. PMID: 36656928
5-Fluorouracil treatment induces characteristic T>G mutations in human cancer.
Christensen S, Van der Roest B, Besselink N, Janssen R, Boymans S, Martens JWM, Yaspo ML, Priestley P, Kuijk E, Cuppen E, Van Hoeck A. Christensen S, et al. Among authors: cuppen e. Nat Commun. 2019 Oct 8;10(1):4571. doi: 10.1038/s41467-019-12594-8. Nat Commun. 2019. PMID: 31594944 Free PMC article.
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P, Baber J, Lolkema MP, Steeghs N, de Bruijn E, Shale C, Duyvesteyn K, Haidari S, van Hoeck A, Onstenk W, Roepman P, Voda M, Bloemendal HJ, Tjan-Heijnen VCG, van Herpen CML, Labots M, Witteveen PO, Smit EF, Sleijfer S, Voest EE, Cuppen E. Priestley P, et al. Among authors: cuppen e. Nature. 2019 Nov;575(7781):210-216. doi: 10.1038/s41586-019-1689-y. Epub 2019 Oct 23. Nature. 2019. PMID: 31645765 Free PMC article.
VIRUSBreakend: Viral Integration Recognition Using Single Breakends.
Cameron DL, Jacobs N, Roepman P, Priestley P, Cuppen E, Papenfuss AT. Cameron DL, et al. Among authors: cuppen e. Bioinformatics. 2021 Oct 11;37(19):3115-3119. doi: 10.1093/bioinformatics/btab343. Bioinformatics. 2021. PMID: 33973999 Free PMC article.
Genetic immune escape landscape in primary and metastatic cancer.
Martínez-Jiménez F, Priestley P, Shale C, Baber J, Rozemuller E, Cuppen E. Martínez-Jiménez F, et al. Among authors: cuppen e. Nat Genet. 2023 May;55(5):820-831. doi: 10.1038/s41588-023-01367-1. Epub 2023 May 10. Nat Genet. 2023. PMID: 37165135 Free PMC article.
Pan-cancer whole-genome comparison of primary and metastatic solid tumours.
Martínez-Jiménez F, Movasati A, Brunner SR, Nguyen L, Priestley P, Cuppen E, Van Hoeck A. Martínez-Jiménez F, et al. Among authors: cuppen e. Nature. 2023 Jun;618(7964):333-341. doi: 10.1038/s41586-023-06054-z. Epub 2023 May 10. Nature. 2023. PMID: 37165194 Free PMC article.
SMN1 gene duplications are associated with sporadic ALS.
Blauw HM, Barnes CP, van Vught PW, van Rheenen W, Verheul M, Cuppen E, Veldink JH, van den Berg LH. Blauw HM, et al. Among authors: cuppen e. Neurology. 2012 Mar 13;78(11):776-80. doi: 10.1212/WNL.0b013e318249f697. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323753 Free PMC article.
NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.
Blauw HM, van Rheenen W, Koppers M, Van Damme P, Waibel S, Lemmens R, van Vught PW, Meyer T, Schulte C, Gasser T, Cuppen E, Pasterkamp RJ, Robberecht W, Ludolph AC, Veldink JH, van den Berg LH. Blauw HM, et al. Among authors: cuppen e. Hum Mol Genet. 2012 Jun 1;21(11):2497-502. doi: 10.1093/hmg/dds064. Epub 2012 Feb 28. Hum Mol Genet. 2012. PMID: 22378146
310 results