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

Year Number of Results
2004 1
2007 4
2008 6
2009 7
2010 6
2011 5
2012 8
2013 4
2014 3
2015 1
2016 8
2017 8
2018 6
2019 12
2020 17
2021 13
2022 13
2023 8
2024 1

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119 results

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Page 1
Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework.
Ross JE, Mohan S, Zhang J, Sullivan MJ, Bury L, Lee K, Futchi I, Frantz A, McDougal D, Perez Botero J, Cattaneo M, Cooper N, Downes K, Gresele P, Keenan C, Lee AI, Megy K, Morange PE, Morgan NV, Schulze H, Zimowski K, Freson K, Lambert MP. Ross JE, et al. Among authors: downes k. J Thromb Haemost. 2024 Mar;22(3):645-665. doi: 10.1016/j.jtha.2023.11.011. Epub 2023 Nov 26. J Thromb Haemost. 2024. PMID: 38016518
Platelet Receptor Glycoprotein VI-Dimer Is Overexpressed in Patients with Atrial Fibrillation at High Risk of Ischemic Stroke.
Induruwa I, Kempster C, Thomas P, McKinney H, Malcor JD, Bonna A, Batista J, Soejima K, Ouwehand W, Farndale RW, Downes K, Moroi M, Jung SM, Warburton EA. Induruwa I, et al. Among authors: downes k. TH Open. 2023 Nov 13;7(4):e294-e302. doi: 10.1055/s-0043-1776328. eCollection 2023 Oct. TH Open. 2023. PMID: 37964899 Free PMC article.
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L, Collins J, Sims MC, Barrio-Hernandez I, Sun L, Burren OS, Perfetto L, Bender I, Callahan TJ, Fleming K, Guerrero JA, Hermjakob H, Martin MJ, Stephenson J, Paneerselvam K, Petrovski S, Porras P, Robinson PN, Wang Q, Watkins X, Frontini M, Laskowski RA, Beltrao P, Di Angelantonio E, Gomez K, Laffan M, Ouwehand WH, Mumford AD, Freson K, Carss K, Downes K, Gleadall N, Megy K, Bruford E, Vuckovic D. Stefanucci L, et al. Among authors: downes k. Blood. 2023 Dec 14;142(24):2055-2068. doi: 10.1182/blood.2023020118. Blood. 2023. PMID: 37647632 Free PMC article.
A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.
Akbari P, Vuckovic D, Stefanucci L, Jiang T, Kundu K, Kreuzhuber R, Bao EL, Collins JH, Downes K, Grassi L, Guerrero JA, Kaptoge S, Knight JC, Meacham S, Sambrook J, Seyres D, Stegle O, Verboon JM, Walter K, Watkins NA, Danesh J, Roberts DJ, Di Angelantonio E, Sankaran VG, Frontini M, Burgess S, Kuijpers T, Peters JE, Butterworth AS, Ouwehand WH, Soranzo N, Astle WJ. Akbari P, et al. Among authors: downes k. Nat Commun. 2023 Aug 18;14(1):5023. doi: 10.1038/s41467-023-40679-y. Nat Commun. 2023. PMID: 37596262 Free PMC article.
Corrigendum to GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis [J Thromb Haemost. 2021 Oct;19(10):2612-2617].
Megy K, Downes K, Morel-Kopp MC, Bastida JM, Brooks S, Bury L, Leinoe E, Gomez K, Morgan NV, Othman M, Ouwehand WH, Botero JP, Rivera J, Schulze H, Trégouët DA, Freson K. Megy K, et al. Among authors: downes k. J Thromb Haemost. 2023 Apr;21(4):1067. doi: 10.1016/j.jtha.2023.01.021. Epub 2023 Feb 1. J Thromb Haemost. 2023. PMID: 36737374 Free PMC article. No abstract available.
Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model.
Mavaddat N, Ficorella L, Carver T, Lee A, Cunningham AP, Lush M, Dennis J, Tischkowitz M, Downes K, Hu D, Hahnen E, Schmutzler RK, Stockley TL, Downs GS, Zhang T, Chiarelli AM, Bojesen SE, Liu C, Chung WK, Pardo M, Feliubadaló L, Balmaña J, Simard J, Antoniou AC, Easton DF. Mavaddat N, et al. Among authors: downes k. Cancer Epidemiol Biomarkers Prev. 2023 Mar 6;32(3):422-427. doi: 10.1158/1055-9965.EPI-22-0756. Cancer Epidemiol Biomarkers Prev. 2023. PMID: 36649146 Free PMC article.
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Dixon PH, Levine AP, Cebola I, Chan MMY, Amin AS, Aich A, Mozere M, Maude H, Mitchell AL, Zhang J; NIHR BioResource; Genomics England Research Consortium Collaborators; Chambers J, Syngelaki A, Donnelly J, Cooley S, Geary M, Nicolaides K, Thorsell M, Hague WM, Estiu MC, Marschall HU, Gale DP, Williamson C. Dixon PH, et al. Nat Commun. 2022 Aug 17;13(1):4840. doi: 10.1038/s41467-022-29931-z. Nat Commun. 2022. PMID: 35977952 Free PMC article.
Detection of enterovirus RNA in peripheral blood mononuclear cells correlates with the presence of the predisposing allele of the type 1 diabetes risk gene IFIH1 and with disease stage.
Sioofy-Khojine AB, Richardson SJ, Locke JM, Oikarinen S, Nurminen N, Laine AP, Downes K, Lempainen J, Todd JA, Veijola R, Ilonen J, Knip M, Morgan NG, Hyöty H, Peakman M, Eichmann M. Sioofy-Khojine AB, et al. Among authors: downes k. Diabetologia. 2022 Oct;65(10):1701-1709. doi: 10.1007/s00125-022-05753-y. Epub 2022 Jul 22. Diabetologia. 2022. PMID: 35867130 Free PMC article.
119 results