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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. Among authors: downes k. 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.
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.
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
Response to comment on "International consensus recommendations for the use of prolonged-infusion β-lactams endorsed by the American College of Clinical Pharmacy (ACCP), the British Society for Antimicrobial Chemotherapy (BSAC), the Cystic Fibrosis Foundation (CFF), the European Society of Clinical Microbiology and Infectious Diseases (ESCMID), the Infectious Diseases Society of American (IDSA), the Society of Critical Care Medicine (SCCM), and the Society of Infectious Diseases Pharmacists".
Hong LT, Downes KJ, FakhriRavari A, Abdul-Mutakabbir JC, Kuti JL, Jorgensen S, Young DC, Alshaer MH, Bassetti M, Bonomo RA, Gilchrist M, Jang SM, Lodise T, Roberts JA, Tängdén T, Zuppa A, Scheetz MH. Hong LT, et al. Among authors: downes kj. Pharmacotherapy. 2024 Feb;44(2):208-209. doi: 10.1002/phar.2907. Pharmacotherapy. 2024. PMID: 38362632 No abstract available.
Guidance for prevention and management of COVID-19 in children and adolescents: A consensus statement from the Pediatric Infectious Diseases Society Pediatric COVID-19 Therapies Taskforce.
Willis ZI, Oliveira CR, Abzug MJ, Anosike BI, Ardura MI, Bio LL, Boguniewicz J, Chiotos K, Downes K, Grapentine SP, Hersh AL, Heston SM, Hijano DR, Huskins WC, James SH, Jones S, Lockowitz CR, Lloyd EC, MacBrayne C, Maron GM, Hayes McDonough M, Miller CM, Morton TH, Olivero RM, Orscheln RC, Schwenk HT, Singh P, Soma VL, Sue PK, Vora SB, Nakamura MM, Wolf J. Willis ZI, et al. Among authors: downes k. J Pediatric Infect Dis Soc. 2024 Mar 19;13(3):159-185. doi: 10.1093/jpids/piad116. J Pediatric Infect Dis Soc. 2024. PMID: 38339996
326 results