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Page 1
Donor genetic burden for cerebrovascular risk and kidney transplant outcome.
Collins KE, Gilbert E, Mauduit V, Benson KA, Elhassan EAE, O'Seaghdha C, Hill C, McKnight AJ, Maxwell AP, van der Most PJ, de Borst MH, Guan W, Jacobson PA, Israni AK, Keating BJ, Lord GM, Markkinen S, Helanterä I, Hyvärinen K, Partanen J, Madden SF, Limou S, Cavalleri GL, Conlon PJ. Collins KE, et al. Among authors: benson ka. J Nephrol. 2024 Jul;37(6):1643-1652. doi: 10.1007/s40620-024-01973-0. Epub 2024 May 29. J Nephrol. 2024. PMID: 38809363 Free PMC article.
Diagnostic utility of genetic testing in patients undergoing renal biopsy.
Benson KA, Murray SL, Doyle R, Doyle B, Dorman AM, Sadlier D, Brennan E, Large M, Cavalleri GL, Godson C, Conlon PJ. Benson KA, et al. Cold Spring Harb Mol Case Stud. 2020 Oct 7;6(5):a005462. doi: 10.1101/mcs.a005462. Print 2020 Oct. Cold Spring Harb Mol Case Stud. 2020. PMID: 32723786 Free PMC article.
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies; Harris PC. Senum SR, et al. Among authors: benson ka. Am J Hum Genet. 2022 Jan 6;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 9. Am J Hum Genet. 2022. PMID: 34890546 Free PMC article.
Monogenic causes of chronic kidney disease in adults.
Connaughton DM, Kennedy C, Shril S, Mann N, Murray SL, Williams PA, Conlon E, Nakayama M, van der Ven AT, Ityel H, Kause F, Kolvenbach CM, Dai R, Vivante A, Braun DA, Schneider R, Kitzler TM, Moloney B, Moran CP, Smyth JS, Kennedy A, Benson K, Stapleton C, Denton M, Magee C, O'Seaghdha CM, Plant WD, Griffin MD, Awan A, Sweeney C, Mane SM, Lifton RP, Griffin B, Leavey S, Casserly L, de Freitas DG, Holian J, Dorman A, Doyle B, Lavin PJ, Little MA, Conlon PJ, Hildebrandt F. Connaughton DM, et al. Kidney Int. 2019 Apr;95(4):914-928. doi: 10.1016/j.kint.2018.10.031. Epub 2019 Feb 14. Kidney Int. 2019. PMID: 30773290 Free PMC article.
Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland.
Cormican S, Connaughton DM, Kennedy C, Murray S, Živná M, Kmoch S, Fennelly NK, O'Kelly P, Benson KA, Conlon ET, Cavalleri G, Foley C, Doyle B, Dorman A, Little MA, Lavin P, Kidd K, Bleyer AJ, Conlon PJ. Cormican S, et al. Among authors: benson ka. Ren Fail. 2019 Nov;41(1):832-841. doi: 10.1080/0886022X.2019.1655452. Ren Fail. 2019. PMID: 31509055 Free PMC article.
Utility of Genomic Testing after Renal Biopsy.
Murray SL, Dorman A, Benson KA, Connaughton DM, Stapleton CP, Fennelly NK, Kennedy C, McDonnell CA, Kidd K, Cormican SM, Ryan LA, Lavin P, Little MA, Bleyer AJ, Doyle B, Cavalleri GL, Hildebrandt F, Conlon PJ. Murray SL, et al. Among authors: benson ka. Am J Nephrol. 2020;51(1):43-53. doi: 10.1159/000504869. Epub 2019 Dec 10. Am J Nephrol. 2020. PMID: 31822006 Free PMC article.
50 results