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Page 1
Long-Term Outcomes in IgA Nephropathy.
Pitcher D, Braddon F, Hendry B, Mercer A, Osmaston K, Saleem MA, Steenkamp R, Wong K, Turner AN, Wang K, Gale DP, Barratt J. Pitcher D, et al. Clin J Am Soc Nephrol. 2023 Jun 1;18(6):727-738. doi: 10.2215/CJN.0000000000000135. Epub 2023 Apr 13. Clin J Am Soc Nephrol. 2023. PMID: 37055195 Free PMC article.
Future of machine learning in paediatrics.
Clarke SL, Parmesar K, Saleem MA, Ramanan AV. Clarke SL, et al. Arch Dis Child. 2022 Mar;107(3):223-228. doi: 10.1136/archdischild-2020-321023. Epub 2021 Jul 22. Arch Dis Child. 2022. PMID: 34301619 Review.
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. 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.
Innovating and invigorating the clinical trial infrastructure for glomerular diseases.
Barisoni L, Barratt J, Campbell K, Eva L, Gillespie BS, Gipson D, Huber T, Jardine M, Kamil E, Kretzler M, Lee L, Levtchenk E, Mehr AP, Nachman PH, Oh J, Saleem M, Shankland SJ, Smith K, Smokler I, Smoyer W, Tarnoff J, Thompson A, Trachtman H, Udani S, Vivarelli M, Walker P, West M, Rovin BH. Barisoni L, et al. Kidney Int. 2021 Mar;99(3):519-523. doi: 10.1016/j.kint.2020.09.038. Kidney Int. 2021. PMID: 33637197 No abstract available.
Trans-ethnic Mendelian-randomization study reveals causal relationships between cardiometabolic factors and chronic kidney disease.
Zheng J, Zhang Y, Rasheed H, Walker V, Sugawara Y, Li J, Leng Y, Elsworth B, Wootton RE, Fang S, Yang Q, Burgess S, Haycock PC, Borges MC, Cho Y, Carnegie R, Howell A, Robinson J, Thomas LF, Brumpton BM, Hveem K, Hallan S, Franceschini N, Morris AP, Köttgen A, Pattaro C, Wuttke M, Yamamoto M, Kashihara N, Akiyama M, Kanai M, Matsuda K, Kamatani Y, Okada Y, Walters R, Millwood IY, Chen Z, Davey Smith G, Barbour S, Yu C, Åsvold BO, Zhang H, Gaunt TR. Zheng J, et al. Int J Epidemiol. 2022 Jan 6;50(6):1995-2010. doi: 10.1093/ije/dyab203. Epub 2021 Oct 20. Int J Epidemiol. 2022. PMID: 34999880 Free PMC article.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Weng PL, Majmundar AJ, Khan K, Lim TY, Shril S, Jin G, Musgrove J, Wang M, Ahram DF, Aggarwal VS, Bier LE, Heinzen EL, Onuchic-Whitford AC, Mann N, Buerger F, Schneider R, Deutsch K, Kitzler TM, Klämbt V, Kolb A, Mao Y, Moufawad El Achkar C, Mitrotti A, Martino J, Beck BB, Altmüller J, Benz MR, Yano S, Mikati MA, Gunduz T, Cope H, Shashi V; Undiagnosed Diseases Network; Trachtman H, Bodria M, Caridi G, Pisani I, Fiaccadori E, AbuMaziad AS, Martinez-Agosto JA, Yadin O, Zuckerman J, Kim A; UCLA Clinical Genomics Center; John-Kroegel U, Tyndall AV, Parboosingh JS, Innes AM, Bierzynska A, Koziell AB, Muorah M, Saleem MA, Hoefele J, Riedhammer KM, Gharavi AG, Jobanputra V, Pierce-Hoffman E, Seaby EG, O'Donnell-Luria A, Rehm HL, Mane S, D'Agati VD, Pollak MR, Ghiggeri GM, Lifton RP, Goldstein DB, Davis EE, Hildebrandt F, Sanna-Cherchi S. Weng PL, et al. Am J Hum Genet. 2021 Feb 4;108(2):357-367. doi: 10.1016/j.ajhg.2021.01.008. Epub 2021 Jan 27. Am J Hum Genet. 2021. PMID: 33508234 Free PMC article.
37 results