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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 3
2003 8
2004 6
2005 10
2006 8
2007 5
2008 7
2009 9
2010 4
2011 14
2012 14
2013 9
2014 13
2015 5
2016 12
2017 7
2018 8
2019 13
2020 16
2021 5
2022 2
2023 3
2024 3

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160 results

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Page 1
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Improving reporting standards for polygenic scores in risk prediction studies.
Wand H, Lambert SA, Tamburro C, Iacocca MA, O'Sullivan JW, Sillari C, Kullo IJ, Rowley R, Dron JS, Brockman D, Venner E, McCarthy MI, Antoniou AC, Easton DF, Hegele RA, Khera AV, Chatterjee N, Kooperberg C, Edwards K, Vlessis K, Kinnear K, Danesh JN, Parkinson H, Ramos EM, Roberts MC, Ormond KE, Khoury MJ, Janssens ACJW, Goddard KAB, Kraft P, MacArthur JAL, Inouye M, Wojcik GL. Wand H, et al. Among authors: edwards k. Nature. 2021 Mar;591(7849):211-219. doi: 10.1038/s41586-021-03243-6. Epub 2021 Mar 10. Nature. 2021. PMID: 33692554 Free PMC article. Review.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
Skin tears: Prevention and management.
Langemo DK, Williams A, Edwards K. Langemo DK, et al. Among authors: edwards k. Nursing. 2019 Apr;49(4):66-69. doi: 10.1097/01.NURSE.0000554309.45660.ca. Nursing. 2019. PMID: 30893210 Review. No abstract available.
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Dixon PH, Levine AP, Cebola I, Chan MMY, Amin AS, Aich A, Mozere M, Maude H, Mitchell AL, Zhang J; NIHR BioResource; Genomics England Research Consortium Collaborators; Chambers J, Syngelaki A, Donnelly J, Cooley S, Geary M, Nicolaides K, Thorsell M, Hague WM, Estiu MC, Marschall HU, Gale DP, Williamson C. Dixon PH, et al. Nat Commun. 2022 Aug 17;13(1):4840. doi: 10.1038/s41467-022-29931-z. Nat Commun. 2022. PMID: 35977952 Free PMC article.
Skin tears: the forgotten wound.
LeBlanc K, Baranoski S; International Skin Tear Advisory Panel, 2013. LeBlanc K, et al. Nurs Manage. 2014 Dec;45(12):36-46; quiz 46-7. doi: 10.1097/01.NUMA.0000456648.49038.df. Nurs Manage. 2014. PMID: 25402862 Review. No abstract available.
Consensus statement on screening, diagnosis, classification and treatment of endemic (Balkan) nephropathy.
Jelaković B, Nikolić J, Radovanović Z, Nortier J, Cosyns JP, Grollman AP, Bašić-Jukić N, Belicza M, Bukvić D, Čavaljuga S, Čvorišćec D, Cvitković A, Dika Ž, Dimitrov P, Đukanović L, Edwards K, Ferluga D, Fuštar-Preradović L, Gluhovschi G, Imamović G, Jakovina T, Kes P, Leko N, Medverec Z, Mesić E, Miletić-Medved M, Miller F, Pavlović N, Pasini J, Pleština S, Polenaković M, Stefanović V, Tomić K, Trnačević S, Vuković Lela I, Štern-Padovan R. Jelaković B, et al. Among authors: edwards k. Nephrol Dial Transplant. 2014 Nov;29(11):2020-7. doi: 10.1093/ndt/gft384. Epub 2013 Oct 28. Nephrol Dial Transplant. 2014. PMID: 24166461 Free PMC article. Review.
Multivariate prediction of dementia in Parkinson's disease.
Phongpreecha T, Cholerton B, Mata IF, Zabetian CP, Poston KL, Aghaeepour N, Tian L, Quinn JF, Chung KA, Hiller AL, Hu SC, Edwards KL, Montine TJ. Phongpreecha T, et al. Among authors: edwards kl. NPJ Parkinsons Dis. 2020 Aug 25;6:20. doi: 10.1038/s41531-020-00121-2. eCollection 2020. NPJ Parkinsons Dis. 2020. PMID: 32885039 Free PMC article.
160 results