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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: elhassan e. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. PMID: 38196618 Free PMC article. Preprint.
Familial Variability of Disease Severity in Adult Patients With ADPKD.
Elhassan EAE, O'Kelly P, Collins KE, Teltsh O, Ciurli F, Murray SL, Kennedy C, Madden SF, Benson KA, Cavalleri GL, Conlon PJ. Elhassan EAE, et al. Kidney Int Rep. 2023 Dec 12;9(3):649-660. doi: 10.1016/j.ekir.2023.12.002. eCollection 2024 Mar. Kidney Int Rep. 2023. PMID: 38481516 Free PMC article.
The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project.
Elhassan EAE, Murray SL, Connaughton DM, Kennedy C, Cormican S, Cowhig C, Stapleton C, Little MA, Kidd K, Bleyer AJ, Živná M, Kmoch S, Fennelly NK, Doyle B, Dorman A, Griffin MD, Casserly L, Harris PC, Hildebrandt F, Cavalleri GL, Benson KA, Conlon PJ. Elhassan EAE, et al. J Nephrol. 2022 Jul;35(6):1655-1665. doi: 10.1007/s40620-021-01236-2. Epub 2022 Jan 31. J Nephrol. 2022. PMID: 35099770 Free PMC article.
The genetic landscape of polycystic kidney disease in Ireland.
Benson KA, Murray SL, Senum SR, Elhassan E, Conlon ET, Kennedy C, Conlon S, Gilbert E, Connaughton D, O'Hara P, Khamis S, Cormican S, Brody LC, Molloy AM, Lynch SA, Casserly L, Griffin MD, Carton R, Yachnin K, Harris PC, Cavalleri GL, Conlon P. Benson KA, et al. Among authors: elhassan e. Eur J Hum Genet. 2021 May;29(5):827-838. doi: 10.1038/s41431-020-00806-5. Epub 2021 Jan 16. Eur J Hum Genet. 2021. PMID: 33454723 Free PMC article.
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.
Olinger E, Schaeffer C, Kidd K, Elhassan EAE, Cheng Y, Dufour I, Schiano G, Mabillard H, Pasqualetto E, Hofmann P, Fuster DG, Kistler AD, Wilson IJ, Kmoch S, Raymond L, Robert T; Genomics England Research Consortium; Eckardt KU, Bleyer AJ Sr, Köttgen A, Conlon PJ, Wiesener M, Sayer JA, Rampoldi L, Devuyst O. Olinger E, et al. Among authors: elhassan eae. Proc Natl Acad Sci U S A. 2022 Aug 16;119(33):e2114734119. doi: 10.1073/pnas.2114734119. Epub 2022 Aug 10. Proc Natl Acad Sci U S A. 2022. PMID: 35947615 Free PMC article.
Clinical and genetic characteristics of Dent's disease type 1 in Europe.
Burballa C, Cantero-Recasens G, Prikhodina L, Lugani F, Schlingmann K, Ananin PV, Besouw M, Bockenhauer D, Madariaga L, Bertholet-Thomas A, Taroni F, Parolin M, Conlon P, Emma F, Del Prete D, Chauveau D, Koster-Kamphuis L, Fila M, Pasini A, Castro I, Colussi G, Gil M, Mohidin B, Wlodkowski T, Schaefer F, Ariceta G; DENT study group. Burballa C, et al. Nephrol Dial Transplant. 2023 May 31;38(6):1497-1507. doi: 10.1093/ndt/gfac310. Nephrol Dial Transplant. 2023. PMID: 36441012
High frequency and mortality of head and neck malignancy in organ transplant recipients in Ireland - A national cohort study.
Conlon E, Fitzgerald C, Hintze J, Elhassan EAE, Sexton DJ, O'Leary E, O'Kelly P, O'Neill JO, Egan J, Houlihan DD, Murray D, McCormick PA, Morris PG, Raghallaigh SN, Little D, Conlon PJ, Moloney FJ, O'Neill JP. Conlon E, et al. Among authors: elhassan eae. Am J Otolaryngol. 2023 Jul-Aug;44(4):103827. doi: 10.1016/j.amjoto.2023.103827. Epub 2023 Mar 9. Am J Otolaryngol. 2023. PMID: 36933332
115 results