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Year Number of Results
2004 1
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2009 1
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2017 5
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2019 6
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2023 4
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40 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.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
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.
Venous thromboembolism.
Shapiro S, Everington T, Roberts L, Arya R. Shapiro S, et al. Among authors: everington t. Clin Med (Lond). 2019 May;19(3):262. doi: 10.7861/clinmedicine.19-3-262a. Clin Med (Lond). 2019. PMID: 31092529 Free PMC article. 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.
Fludarabine, Cytarabine, Granulocyte Colony-Stimulating Factor, and Idarubicin With Gemtuzumab Ozogamicin Improves Event-Free Survival in Younger Patients With Newly Diagnosed AML and Overall Survival in Patients With NPM1 and FLT3 Mutations.
Russell NH, Wilhelm-Benartzi C, Othman J, Dillon R, Knapper S, Batten LM, Canham J, Hinson EL, Betteridge S, Overgaard UM, Gilkes A, Potter N, Mehta P, Kottaridis P, Cavenagh J, Hemmaway C, Arnold C, Freeman SD, Dennis M; PORTEC Study Group. Russell NH, et al. J Clin Oncol. 2024 Apr 1;42(10):1158-1168. doi: 10.1200/JCO.23.00943. Epub 2024 Jan 12. J Clin Oncol. 2024. PMID: 38215358 Clinical Trial.
Compression stockings in addition to low-molecular-weight heparin to prevent venous thromboembolism in surgical inpatients requiring pharmacoprophylaxis: the GAPS non-inferiority RCT.
Shalhoub J, Lawton R, Hudson J, Baker C, Bradbury A, Dhillon K, Everington T, Gohel MS, Hamady Z, Hunt BJ, Stansby G, Warwick D, Norrie J, Davies AH. Shalhoub J, et al. Among authors: everington t. Health Technol Assess. 2020 Dec;24(69):1-80. doi: 10.3310/hta24690. Health Technol Assess. 2020. PMID: 33275096 Free PMC article. Clinical Trial.
36-month clinical outcomes of patients with venous thromboembolism: GARFIELD-VTE.
Turpie AGG, Farjat AE, Haas S, Ageno W, Weitz JI, Goldhaber SZ, Goto S, Angchaisuksiri P, Kayani G, Lopes RD, Chiang CE, Gibbs H, Tse E, Verhamme P, Ten Cate H, Muntaner J, Schellong S, Bounameaux H, Prandoni P, Maheshwari U, Kakkar AK; GARFIELD-VTE investigators. Turpie AGG, et al. Thromb Res. 2023 Feb;222:31-39. doi: 10.1016/j.thromres.2022.11.016. Epub 2022 Nov 25. Thromb Res. 2023. PMID: 36565677 Free article.
Incidence and predictors of post-thrombotic syndrome in patients with proximal DVT in a real-world setting: findings from the GARFIELD-VTE registry.
Prandoni P, Haas S, Fluharty ME, Schellong S, Gibbs H, Tse E, Carrier M, Jacobson B, Ten Cate H, Panchenko E, Verhamme P, Pieper K, Kayani G, Kakkar LA; GARFIELD-VTE investigators. Prandoni P, et al. J Thromb Thrombolysis. 2024 Feb;57(2):312-321. doi: 10.1007/s11239-023-02895-7. Epub 2023 Nov 6. J Thromb Thrombolysis. 2024. PMID: 37932591 Free PMC article.
Germline selection shapes human mitochondrial DNA diversity.
Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot; Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF. Wei W, et al. Science. 2019 May 24;364(6442):eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23. Science. 2019. PMID: 31123110 Free article.
40 results