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

Year Number of Results
1992 1
1993 2
1994 1
1996 1
1998 3
2002 1
2004 1
2006 1
2007 3
2008 2
2009 3
2010 1
2012 3
2013 1
2014 2
2015 1
2016 3
2017 3
2018 2
2019 4
2020 5
2021 11
2022 8
2023 2
2024 2

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60 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 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.
Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney.
Eales JM, Jiang X, Xu X, Saluja S, Akbarov A, Cano-Gamez E, McNulty MT, Finan C, Guo H, Wystrychowski W, Szulinska M, Thomas HB, Pramanik S, Chopade S, Prestes PR, Wise I, Evangelou E, Salehi M, Shakanti Y, Ekholm M, Denniff M, Nazgiewicz A, Eichinger F, Godfrey B, Antczak A, Glyda M, Król R, Eyre S, Brown J, Berzuini C, Bowes J, Caulfield M, Zukowska-Szczechowska E, Zywiec J, Bogdanski P, Kretzler M, Woolf AS, Talavera D, Keavney B, Maffia P, Guzik TJ, O'Keefe RT, Trynka G, Samani NJ, Hingorani A, Sampson MG, Morris AP, Charchar FJ, Tomaszewski M. Eales JM, et al. Among authors: o keefe rt. Nat Genet. 2021 May;53(5):630-637. doi: 10.1038/s41588-021-00835-w. Epub 2021 May 6. Nat Genet. 2021. PMID: 33958779
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations.
Jayadev R, Morais MRPT, Ellingford JM, Srinivasan S, Naylor RW, Lawless C, Li AS, Ingham JF, Hastie E, Chi Q, Fresquet M, Koudis NM, Thomas HB, O'Keefe RT, Williams E, Adamson A, Stuart HM, Banka S, Smedley D; Genomics England Research Consortium; Sherwood DR, Lennon R. Jayadev R, et al. Among authors: o keefe rt. Sci Adv. 2022 May 20;8(20):eabn2265. doi: 10.1126/sciadv.abn2265. Epub 2022 May 18. Sci Adv. 2022. PMID: 35584218 Free PMC article.
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Smith TB, Rea A, Thomas HB, Thompson K, Oláhová M, Maroofian R, Zamani M, He L, Sadeghian S, Galehdari H, Lotan NS, Gilboa T, Herman KC, McCorvie TJ, Yue WW, Houlden H, Taylor RW, Newman WG, O'Keefe RT. Smith TB, et al. Among authors: o keefe rt. Eur J Hum Genet. 2023 Oct;31(10):1190-1194. doi: 10.1038/s41431-023-01437-2. Epub 2023 Aug 9. Eur J Hum Genet. 2023. PMID: 37558808 Free PMC article.
The Role of the U5 snRNP in Genetic Disorders and Cancer.
Wood KA, Eadsforth MA, Newman WG, O'Keefe RT. Wood KA, et al. Among authors: o keefe rt. Front Genet. 2021 Jan 28;12:636620. doi: 10.3389/fgene.2021.636620. eCollection 2021. Front Genet. 2021. PMID: 33584830 Free PMC article. Review.
Non-coding RNAs and disease: the classical ncRNAs make a comeback.
de Almeida RA, Fraczek MG, Parker S, Delneri D, O'Keefe RT. de Almeida RA, et al. Among authors: o keefe rt. Biochem Soc Trans. 2016 Aug 15;44(4):1073-8. doi: 10.1042/BST20160089. Biochem Soc Trans. 2016. PMID: 27528754 Free PMC article. Review.
Bi-allelic FRA10AC1 variants in a multisystem human syndrome.
Banka S, Shalev S, Park SM, Wood KA, Thomas HB, Wright HL, Alyahya M, Bankier S, Alimi O, Chervinsky E, Zeef LAH, O'Keefe RT. Banka S, et al. Among authors: o keefe rt. Brain. 2022 Oct 21;145(10):e86-e89. doi: 10.1093/brain/awac262. Brain. 2022. PMID: 35871492 No abstract available.
60 results