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

Year Number of Results
1926 1
1951 4
1959 1
1962 1
1964 1
1978 3
1979 1
1980 1
1981 1
1982 1
1983 1
1984 1
1985 4
1986 3
1987 3
1989 1
1992 6
1993 2
1994 6
1995 6
1996 4
1997 5
1998 5
1999 9
2000 10
2001 5
2002 8
2003 5
2004 4
2005 7
2006 10
2007 5
2008 19
2009 14
2010 10
2011 9
2012 16
2013 18
2014 17
2015 15
2016 16
2017 17
2018 17
2019 13
2020 19
2021 25
2022 22
2023 16
2024 14

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372 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.
Dexamethasone in Hospitalized Patients with Covid-19.
RECOVERY Collaborative Group; Horby P, Lim WS, Emberson JR, Mafham M, Bell JL, Linsell L, Staplin N, Brightling C, Ustianowski A, Elmahi E, Prudon B, Green C, Felton T, Chadwick D, Rege K, Fegan C, Chappell LC, Faust SN, Jaki T, Jeffery K, Montgomery A, Rowan K, Juszczak E, Baillie JK, Haynes R, Landray MJ. RECOVERY Collaborative Group, et al. N Engl J Med. 2021 Feb 25;384(8):693-704. doi: 10.1056/NEJMoa2021436. Epub 2020 Jul 17. N Engl J Med. 2021. PMID: 32678530 Free PMC article. Clinical Trial.
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.
Higher dose corticosteroids in patients admitted to hospital with COVID-19 who are hypoxic but not requiring ventilatory support (RECOVERY): a randomised, controlled, open-label, platform trial.
RECOVERY Collaborative Group. Electronic address: recoverytrial@ndph.ox.ac.uk; RECOVERY Collaborative Group. RECOVERY Collaborative Group. Electronic address: recoverytrial@ndph.ox.ac.uk, et al. Lancet. 2023 May 6;401(10387):1499-1507. doi: 10.1016/S0140-6736(23)00510-X. Epub 2023 Apr 13. Lancet. 2023. PMID: 37060915 Free PMC article. Clinical Trial.
Three-year outcomes of valoctocogene roxaparvovec gene therapy for hemophilia A.
Madan B, Ozelo MC, Raheja P, Symington E, Quon DV, Leavitt AD, Pipe SW, Lowe G, Kenet G, Reding MT, Mason J, Wang M, von Drygalski A, Klamroth R, Shapiro S, Chambost H, Dunn AL, Oldenburg J, Chou SC, Peyvandi F, Millar CM, Osmond D, Yu H, Dashiell-Aje E, Robinson TM, Mahlangu J. Madan B, et al. Among authors: millar cm. J Thromb Haemost. 2024 Jul;22(7):1880-1893. doi: 10.1016/j.jtha.2024.04.001. Epub 2024 Apr 12. J Thromb Haemost. 2024. PMID: 38614387 Free article. Clinical Trial.
372 results