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Page 1
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: sayer ja. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. PMID: 38196618 Free PMC article. Preprint.
Explaining Alport syndrome-lessons from the adult nephrology clinic.
Mabillard H, Ryan R, Tzoumas N, Gear S, Sayer JA. Mabillard H, et al. Among authors: sayer ja. J Rare Dis (Berlin). 2024;3(1):14. doi: 10.1007/s44162-024-00036-z. Epub 2024 May 13. J Rare Dis (Berlin). 2024. PMID: 38745975 Free PMC article. Review.
Prevalence and characteristics of genetic disease in adult kidney stone formers.
Anderegg MA, Olinger EG, Bargagli M, Geraghty R, Taylor L, Nater A, Bruggmann R, Sayer JA, Vogt B, Schaller A, Fuster DG. Anderegg MA, et al. Among authors: sayer ja. Nephrol Dial Transplant. 2024 Mar 27:gfae074. doi: 10.1093/ndt/gfae074. Online ahead of print. Nephrol Dial Transplant. 2024. PMID: 38544324 Free 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: sayer ja. 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.
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease.
Schönauer R, Sierks D, Boerrigter M, Jawaid T, Caroff L, Audrezet MP, Friedrich A, Shaw M, Degenhardt J, Forberger M, de Fallois J, Bläker H, Bergmann C, Gödiker J, Schindler P, Schlevogt B, Müller RU, Berg T, Patterson I, Griffiths WJ, Sayer JA; Genomics England Research Consortium; Popp B, Torres VE, Hogan MC, Somlo S, Watnick TJ, Nevens F, Besse W, Cornec-Le Gall E, Harris PC, Drenth JPH, Halbritter J. Schönauer R, et al. Among authors: sayer ja. Gastroenterology. 2024 May;166(5):902-914. doi: 10.1053/j.gastro.2023.12.007. Epub 2023 Dec 13. Gastroenterology. 2024. PMID: 38101549 Free article.
Uromodulin processing in DNAJB11-kidney disease.
Mariniello M, Schiano G, Yoshifuji A, Gillion V, Sayer JA, Jouret F; Genkyst Study Group; Le Meur Y, Cornec-Le Gall E, Olinger EG, Devuyst O. Mariniello M, et al. Among authors: sayer ja. Kidney Int. 2024 Feb;105(2):376-380. doi: 10.1016/j.kint.2023.11.008. Epub 2023 Nov 26. Kidney Int. 2024. PMID: 38016513 Free article. No abstract available.
Routine Urinary Biochemistry Does Not Accurately Predict Stone Type Nor Recurrence in Kidney Stone Formers: A Multicentre, Multimodel, Externally Validated Machine-Learning Study.
Geraghty RM, Wilson I, Olinger E, Cook P, Troup S, Kennedy D, Rogers A, Somani BK, Dhayat NA, Fuster DG, Sayer JA. Geraghty RM, et al. Among authors: sayer ja. J Endourol. 2023 Dec;37(12):1295-1304. doi: 10.1089/end.2023.0451. Epub 2023 Oct 31. J Endourol. 2023. PMID: 37830220
224 results