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

Year Number of Results
1972 1
1973 1
1974 2
1979 1
1984 2
1985 1
1986 2
1987 2
1988 2
1989 4
1990 2
1992 6
1993 2
1994 10
1995 7
1996 9
1997 5
1998 12
1999 4
2000 12
2001 9
2002 26
2003 20
2004 16
2005 23
2006 14
2007 13
2008 26
2009 19
2010 18
2011 20
2012 16
2013 16
2014 25
2015 20
2016 14
2017 12
2018 17
2019 17
2020 22
2021 20
2022 21
2023 14
2024 14
2025 17

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488 results

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Page 1
Targeting the IL-6/JAK/STAT3 signalling axis in cancer.
Johnson DE, O'Keefe RA, Grandis JR. Johnson DE, et al. Among authors: o keefe ra. Nat Rev Clin Oncol. 2018 Apr;15(4):234-248. doi: 10.1038/nrclinonc.2018.8. Epub 2018 Feb 6. Nat Rev Clin Oncol. 2018. PMID: 29405201 Free PMC article. Review.
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 E, Izat… See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: o keefe rt. 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.
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ. Jenkinson EM, et al. Among authors: o keefe rt. Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29. Nat Genet. 2016. PMID: 27571260 Free PMC article.
Clinician-directed treatment guidelines.
O'Keefe R, Hopkins C, Qin L. O'Keefe R, et al. J Orthop Translat. 2019 Dec 27;20:3. doi: 10.1016/j.jot.2019.12.002. eCollection 2020 Jan. J Orthop Translat. 2019. PMID: 31908927 Free PMC article. No abstract available.
Atypical subtrochanteric and diaphyseal femoral fractures: second report of a task force of the American Society for Bone and Mineral Research.
Shane E, Burr D, Abrahamsen B, Adler RA, Brown TD, Cheung AM, Cosman F, Curtis JR, Dell R, Dempster DW, Ebeling PR, Einhorn TA, Genant HK, Geusens P, Klaushofer K, Lane JM, McKiernan F, McKinney R, Ng A, Nieves J, O'Keefe R, Papapoulos S, Howe TS, van der Meulen MC, Weinstein RS, Whyte MP. Shane E, et al. Among authors: o keefe r. J Bone Miner Res. 2014 Jan;29(1):1-23. doi: 10.1002/jbmr.1998. Epub 2013 Oct 1. J Bone Miner Res. 2014. PMID: 23712442 Free article. Review.
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.
Jackson A, Thaker N, Blakes A, Rice G, Griffiths-Jones S, Balasubramanian M, Campbell J, Shannon N, Choi J, Hong J, Hunt D, de Burca A, Kim SY, Kim T, Lee S, Redman M, Rius R, Simons C, Tan TY, Ellingford J, O'Keefe RT, Chae JH, Banka S. Jackson A, et al. Among authors: o keefe rt. Nat Genet. 2025 Jun;57(6):1362-1366. doi: 10.1038/s41588-025-02209-y. Epub 2025 May 29. Nat Genet. 2025. PMID: 40442284 Free PMC article.
NFIA regulates articular chondrocyte fatty acid metabolism and joint homeostasis.
Wang C, Fang L, Shi M, Niu X, Li T, Li X, Cho K, He Y, Liu S, Lu A, Xing X, Lukowski J, Goo YA, Speakman JR, Chen D, O'Keefe RJ, Patti GJ, Zuscik MJ, Zhang B, Shen J. Wang C, et al. Among authors: o keefe rj. Sci Transl Med. 2025 Jul 30;17(809):eadm9488. doi: 10.1126/scitranslmed.adm9488. Epub 2025 Jul 30. Sci Transl Med. 2025. PMID: 40737429
Atypical femur fractures.
Tyler W, Bukata S, O'Keefe R. Tyler W, et al. Among authors: o keefe r. Clin Geriatr Med. 2014 May;30(2):349-59. doi: 10.1016/j.cger.2014.01.010. Epub 2014 Mar 4. Clin Geriatr Med. 2014. PMID: 24721373 Review.
488 results