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

Year Number of Results
1994 1
2002 3
2003 1
2004 2
2005 9
2006 8
2007 23
2008 15
2009 23
2010 21
2011 36
2012 46
2013 54
2014 50
2015 46
2016 43
2017 44
2018 40
2019 46
2020 42
2021 38
2022 48
2023 50
2024 13

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598 results

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Page 1
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque … See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: smith kr. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
Rare variant contribution to human disease in 281,104 UK Biobank exomes.
Wang Q, Dhindsa RS, Carss K, Harper AR, Nag A, Tachmazidou I, Vitsios D, Deevi SVV, Mackay A, Muthas D, Hühn M, Monkley S, Olsson H; AstraZeneca Genomics Initiative; Wasilewski S, Smith KR, March R, Platt A, Haefliger C, Petrovski S. Wang Q, et al. Among authors: smith kr. Nature. 2021 Sep;597(7877):527-532. doi: 10.1038/s41586-021-03855-y. Epub 2021 Aug 10. Nature. 2021. PMID: 34375979 Free PMC article.
Efficacy and Safety of NVX-CoV2373 in Adults in the United States and Mexico.
Dunkle LM, Kotloff KL, Gay CL, Áñez G, Adelglass JM, Barrat Hernández AQ, Harper WL, Duncanson DM, McArthur MA, Florescu DF, McClelland RS, Garcia-Fragoso V, Riesenberg RA, Musante DB, Fried DL, Safirstein BE, McKenzie M, Jeanfreau RJ, Kingsley JK, Henderson JA, Lane DC, Ruíz-Palacios GM, Corey L, Neuzil KM, Coombs RW, Greninger AL, Hutter J, Ake JA, Smith K, Woo W, Cho I, Glenn GM, Dubovsky F; 2019nCoV-301 Study Group. Dunkle LM, et al. Among authors: smith k. N Engl J Med. 2022 Feb 10;386(6):531-543. doi: 10.1056/NEJMoa2116185. Epub 2021 Dec 15. N Engl J Med. 2022. PMID: 34910859 Free PMC article. Clinical Trial.
Rare variant associations with plasma protein levels in the UK Biobank.
Dhindsa RS, Burren OS, Sun BB, Prins BP, Matelska D, Wheeler E, Mitchell J, Oerton E, Hristova VA, Smith KR, Carss K, Wasilewski S, Harper AR, Paul DS, Fabre MA, Runz H, Viollet C, Challis B, Platt A; AstraZeneca Genomics Initiative; Vitsios D, Ashley EA, Whelan CD, Pangalos MN, Wang Q, Petrovski S. Dhindsa RS, et al. Among authors: smith kr. Nature. 2023 Oct;622(7982):339-347. doi: 10.1038/s41586-023-06547-x. Epub 2023 Oct 4. Nature. 2023. PMID: 37794183 Free PMC article.
Knee pain and swelling.
Smith RDJ, Smith KN, Shanmugam V, Beltran LS. Smith RDJ, et al. Among authors: smith kn. Skeletal Radiol. 2023 Sep;52(9):1799-1800. doi: 10.1007/s00256-023-04345-0. Epub 2023 Apr 26. Skeletal Radiol. 2023. PMID: 37099069 No abstract available.
Knee pain and swelling.
Smith RDJ, Smith KN, Shanmugam V, Beltran LS. Smith RDJ, et al. Among authors: smith kn. Skeletal Radiol. 2023 Sep;52(9):1777-1779. doi: 10.1007/s00256-023-04344-1. Epub 2023 Apr 18. Skeletal Radiol. 2023. PMID: 37071190 No abstract available.
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Among authors: smith kr. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
Future research in cancer survivorship.
Chan RJ, Nekhlyudov L, Duijts SFA, Hudson SV, Jones JM, Keogh J, Love B, Lustberg MB, Mehnert-Theuerkauf A, Nathan P, Ness KK, Sheppard VB, Smith K, Tevaarwerk A, Yu X, Feuerstein M. Chan RJ, et al. Among authors: smith k. J Cancer Surviv. 2021 Oct;15(5):659-667. doi: 10.1007/s11764-021-01102-x. Epub 2021 Aug 30. J Cancer Surviv. 2021. PMID: 34460055 No abstract available.
Workforce In Training.
Smith KW, Gibbs TE, Khan O. Smith KW, et al. Dela J Public Health. 2022 Dec 31;8(5):216-220. doi: 10.32481/djph.2022.12.046. eCollection 2022 Dec. Dela J Public Health. 2022. PMID: 36751585 Free PMC article. No abstract available.
598 results