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Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.
Nolan J, Buchanan J, Taylor J, Almeida J, Bedenham T, Blair E, Broadgate S, Butler S, Cazeaux A, Craft J, Cranston T, Crawford G, Forrest J, Gabriel J, George E, Gillen D, Haeger A, Hastings Ward J, Hawkes L, Hodgkiss C, Hoffman J, Jones A, Karpe F, Kasperaviciute D, Kovacs E, Leigh S, Limb E, Lloyd-Jani A, Lopez J, Lucassen A, McFarlane C, O'Rourke AW, Pond E, Sherman C, Stewart H, Thomas E, Thomas S, Thomas T, Thomson K, Wakelin H, Walker S, Watson M, Williams E, Ormondroyd E. Nolan J, et al. Among authors: thomas t, thomas e, thomas s. Genet Med. 2024 Mar;26(3):101051. doi: 10.1016/j.gim.2023.101051. Epub 2023 Dec 19. Genet Med. 2024. PMID: 38131308 Free article.
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C; kConFab; Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM; Dutch Belgium UV Consortium; Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A; German Consortium of Hereditary Breast and Ovarian Cancer; Caputo S, Sinilnikova OM, Lidereau R; French COVAR group collaborators; Couch FJ, Guidugli L, Hansen Tv, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg Å, Vreeswijk MP, Goldgar DE; ENIGMA Consortium. Spurdle AB, et al. J Med Genet. 2012 Aug;49(8):525-32. doi: 10.1136/jmedgenet-2012-101037. J Med Genet. 2012. PMID: 22889855 Free PMC article.
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC. Fergelot P, et al. Among authors: thomas s. Am J Med Genet A. 2016 Dec;170(12):3069-3082. doi: 10.1002/ajmg.a.37940. Epub 2016 Sep 20. Am J Med Genet A. 2016. PMID: 27648933
BRCA1 Circos: a visualisation resource for functional analysis of missense variants.
Jhuraney A, Velkova A, Johnson RC, Kessing B, Carvalho RS, Whiley P, Spurdle AB, Vreeswijk MP, Caputo SM, Millot GA, Vega A, Coquelle N, Galli A, Eccles D, Blok MJ, Pal T, van der Luijt RB, Santamariña Pena M, Neuhausen SL, Donenberg T, Machackova E, Thomas S, Vallée M, Couch FJ, Tavtigian SV, Glover JN, Carvalho MA, Brody LC, Sharan SK, Monteiro AN; Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium. Jhuraney A, et al. Among authors: thomas s. J Med Genet. 2015 Apr;52(4):224-30. doi: 10.1136/jmedgenet-2014-102766. Epub 2015 Feb 2. J Med Genet. 2015. PMID: 25643705 Free PMC article.
Assessing the risk of transfusion-transmitted variant Creutzfeldt-Jakob disease: an European perspective.
Domanović D, Lewin A, O'Leary P, Janner-Jametti T, El Dusouqui SA, Sousa AP, Zaaijer H, Roberts B, Bougard D, Prati D, Nordberg J, Erikstrup C, Janssen M, Lieshout-Krikke R, Gubbe K, O'Flaherty N, Mathy G, Chantillon AM, Lehtisalo R, Sørensen ØH, Tiberghien P, Thomas S. Domanović D, et al. Among authors: thomas s. Blood Transfus. 2024 May 16. doi: 10.2450/BloodTransfus.778. Online ahead of print. Blood Transfus. 2024. PMID: 38814884
Switching to Interleukin-23 Inhibitors After Ineffectiveness of Ustekinumab: Evaluating Real-World Outcomes in Psoriasis Treatment.
Thomas SE, Seyger MMB, Mangnus JE, Otero ME, Gostynski AH, Njoo MD, Ossenkoppele PM, Haeck IM, Hendricksen-Roelofzen JHJ, Körver JEM, Dodemont SRP, Tupker RA, Berends MAM, Weppner-Parren LMJT, Keijsers RRMC, Oostveen AM, Peters B, Mommers R, van Doorn MBA, Tjioe M, Veldkamp WR, Kuijpers ALA, Kleinpenning MM, de Jong EMGJ, van den Reek JMPA. Thomas SE, et al. Am J Clin Dermatol. 2024 May 27. doi: 10.1007/s40257-024-00868-x. Online ahead of print. Am J Clin Dermatol. 2024. PMID: 38802618 No abstract available.
Long COVID and cardiovascular disease: a prospective cohort study.
Lawson CA, Moss AJ, Arnold JR, Bagot C, Banerjee A, Berry C, Greenwood J, Hughes AD, Khunti K, Mills NL, Neubauer S, Raman B, Sattar N, Leavy OC, Richardson M, Elneima O, McAuley HJ, Shikotra A, Singapuri A, Sereno M, Saunders R, Harris V, Houchen-Wolloff L, Greening NJ, Harrison E, Docherty AB, Lone NI, Quint JK, Chalmers J, Ho LP, Horsley A, Marks M, Poinasamy K, Evans R, Wain LV, Brightling C, McCann GP; PHOSP-COVID Study Collaborative Group. Lawson CA, et al. Open Heart. 2024 May 27;11(1):e002662. doi: 10.1136/openhrt-2024-002662. Open Heart. 2024. PMID: 38802280 Free PMC article.
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