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Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndrome.
Downie ML, Gupta S, Chan MMY, Sadeghi-Alavijeh O, Cao J, Parekh RS, Diz CB, Bierzynska A, Levine AP, Pepper RJ, Stanescu H, Saleem MA, Kleta R, Bockenhauer D, Koziell AB, Gale DP. Downie ML, et al. Among authors: gale dp. Pediatr Nephrol. 2023 Jun;38(6):1793-1800. doi: 10.1007/s00467-022-05789-7. Epub 2022 Nov 10. Pediatr Nephrol. 2023. PMID: 36357634 Free PMC article.
Germline selection shapes human mitochondrial DNA diversity.
Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot; Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF. Wei W, et al. Among authors: gale dp. Science. 2019 May 24;364(6442):eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23. Science. 2019. PMID: 31123110 Free article.
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: gale dp. 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.
C3 Glomerulopathy and Related Disorders in Children: Etiology-Phenotype Correlation and Outcomes.
Wong EKS, Marchbank KJ, Lomax-Browne H, Pappworth IY, Denton H, Cooke K, Ward S, McLoughlin AC, Richardson G, Wilson V, Harris CL, Morgan BP, Hakobyan S, McAlinden P, Gale DP, Maxwell H, Christian M, Malcomson R, Goodship THJ, Marks SD, Pickering MC, Kavanagh D, Cook HT, Johnson SA; MPGN/DDD/C3 Glomerulopathy Rare Disease Group and National Study of MPGN/DDD/C3 Glomerulopathy Investigators. Wong EKS, et al. Among authors: gale dp. Clin J Am Soc Nephrol. 2021 Nov;16(11):1639-1651. doi: 10.2215/CJN.00320121. Epub 2021 Sep 22. Clin J Am Soc Nephrol. 2021. PMID: 34551983 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. Among authors: gale dp. Nat Commun. 2022 Aug 17;13(1):4840. doi: 10.1038/s41467-022-29931-z. Nat Commun. 2022. PMID: 35977952 Free PMC article.
Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort.
Wong K, Pitcher D, Braddon F, Downward L, Steenkamp R, Annear N, Barratt J, Bingham C, Chrysochou C, Coward RJ, Game D, Griffin S, Hall M, Johnson S, Kanigicherla D, Karet Frankl F, Kavanagh D, Kerecuk L, Maher ER, Moochhala S, Pinney J, Sayer JA, Simms R, Sinha S, Srivastava S, Tam FWK, Turner AN, Walsh SB, Waters A, Wilson P, Wong E, Taylor CM, Nitsch D, Saleem M, Bockenhauer D, Bramham K, Gale DP; RaDaR consortium. Wong K, et al. Among authors: gale dp. Lancet. 2024 Mar 30;403(10433):1279-1289. doi: 10.1016/S0140-6736(23)02843-X. Epub 2024 Mar 13. Lancet. 2024. PMID: 38492578 Free article.
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H; NIHR BioResource—Rare Disease; Next Generation Children Project; Rowitch DH, Raymond FL. French CE, et al. Intensive Care Med. 2019 May;45(5):627-636. doi: 10.1007/s00134-019-05552-x. Epub 2019 Mar 7. Intensive Care Med. 2019. PMID: 30847515 Free PMC article.
102 results