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Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison H, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong AC, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. Cipriani V, et al. Among authors: burley k. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. PMID: 38196618 Free PMC article. Preprint.
PIK3R3 is a candidate regulator of platelet count in people of Bangladeshi ancestry.
Burley K, Fitzgibbon L, van Heel D; Genes & Health Research Team@EastLondonGenes; Vuckovic D, Mumford AD; Genes & Health Research Team. Burley K, et al. Res Pract Thromb Haemost. 2023 May 14;7(4):100175. doi: 10.1016/j.rpth.2023.100175. eCollection 2023 May. Res Pract Thromb Haemost. 2023. PMID: 37538507 Free PMC article.
Alterations in platelet proteome signature and impaired platelet integrin αIIbβ3 activation in patients with COVID-19.
Goudswaard LJ, Williams CM, Khalil J, Burley KL, Hamilton F, Arnold D, Milne A, Lewis PA, Heesom KJ, Mundell SJ, Davidson AD, Poole AW, Hers I. Goudswaard LJ, et al. Among authors: burley kl. J Thromb Haemost. 2023 May;21(5):1307-1321. doi: 10.1016/j.jtha.2023.01.018. Epub 2023 Jan 28. J Thromb Haemost. 2023. PMID: 36716966 Free PMC article.
Multimodal analysis for human ex vivo studies shows extensive molecular changes from delays in blood processing.
Savage AK, Gutschow MV, Chiang T, Henderson K, Green R, Chaudhari M, Swanson E, Heubeck AT, Kondza N, Burley KC, Genge PC, Lord C, Smith T, Thomson Z, Beaubien A, Johnson E, Goldy J, Bolouri H, Buckner JH, Meijer P, Coffey EM, Skene PJ, Torgerson TR, Li XJ, Bumol TF. Savage AK, et al. Among authors: burley kc. iScience. 2021 Apr 15;24(5):102404. doi: 10.1016/j.isci.2021.102404. eCollection 2021 May 21. iScience. 2021. PMID: 34113805 Free PMC article.
Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia.
Cornish N, Aungraheeta MR, FitzGibbon L, Burley K, Alibhai D, Collins J, Greene D, Downes K; NIHR BioResource; Westbury SK, Turro E, Mumford AD. Cornish N, et al. Among authors: burley k. Blood Adv. 2020 Mar 10;4(5):920-924. doi: 10.1182/bloodadvances.2019001293. Blood Adv. 2020. PMID: 32150607 Free PMC article.
47 results