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Page 1
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. 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.
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
Mallawaarachchi AC, Lundie B, Hort Y, Schonrock N, Senum SR, Gayevskiy V, Minoche AE, Hollway G, Ohnesorg T, Hinchcliffe M, Patel C, Tchan M, Mallett A, Dinger ME, Rangan G, Cowley MJ, Harris PC, Burnett L, Shine J, Furlong TJ. Mallawaarachchi AC, et al. Among authors: senum sr. Eur J Hum Genet. 2021 May;29(5):760-770. doi: 10.1038/s41431-020-00796-4. Epub 2021 Jan 12. Eur J Hum Genet. 2021. PMID: 33437033 Free PMC article.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E; Genomics England Research Consortium; Larsen M, Hertz JM, Lilien MR, Obeidová L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CME, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R. Claus LR, et al. Among authors: senum sr. Kidney Int. 2023 Nov;104(5):995-1007. doi: 10.1016/j.kint.2023.07.021. Epub 2023 Aug 19. Kidney Int. 2023. PMID: 37598857
Genomics Integration Into Nephrology Practice.
Pinto E Vairo F, Prochnow C, Kemppainen JL, Lisi EC, Steyermark JM, Kruisselbrink TM, Pichurin PN, Dhamija R, Hager MM, Albadri S, Cornell LD, Lazaridis KN, Klee EW, Senum SR, El Ters M, Amer H, Baudhuin LM, Moyer AM, Keddis MT, Zand L, Sas DJ, Erickson SB, Fervenza FC, Lieske JC, Harris PC, Hogan MC. Pinto E Vairo F, et al. Among authors: senum sr. Kidney Med. 2021 Jun 29;3(5):785-798. doi: 10.1016/j.xkme.2021.04.014. eCollection 2021 Sep-Oct. Kidney Med. 2021. PMID: 34746741 Free PMC article.
Cardiovascular Outcomes in Kidney Transplant Recipients With ADPKD.
Chedid M, Kaidbay HD, Wigerinck S, Mkhaimer Y, Smith B, Zubidat D, Sekhon I, Prajwal R, Duriseti P, Issa N, Zoghby ZM, Hanna C, Senum SR, Harris PC, Hickson LJ, Torres VE, Nkomo VT, Chebib FT. Chedid M, et al. Among authors: senum sr. Kidney Int Rep. 2022 Jun 11;7(9):1991-2005. doi: 10.1016/j.ekir.2022.06.006. eCollection 2022 Sep. Kidney Int Rep. 2022. PMID: 36090485 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: senum sr. 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.
Asymptomatic Pyuria as a Prognostic Biomarker in Autosomal Dominant Polycystic Kidney Disease.
Jones BE, Mkhaimer YG, Rangel LJ, Chedid M, Schulte PJ, Mohamed AK, Neal RM, Zubidat D, Randhawa AK, Hanna C, Gregory AV, Kline TL, Zoghby ZM, Senum SR, Harris PC, Torres VE, Chebib FT. Jones BE, et al. Among authors: senum sr. Kidney360. 2021 Dec 7;3(3):465-476. doi: 10.34067/KID.0004292021. eCollection 2022 Mar 31. Kidney360. 2021. PMID: 35582184 Free PMC article.
Congenital Heart Disease in Adults with Autosomal Dominant Polycystic Kidney Disease.
Chedid M, Hanna C, Zaatari G, Mkhaimer Y, Reddy P, Rangel L, Zubidat D, Kaidbay DN, Irazabal MV, Connolly HM, Senum SR, Madsen CD, Hogan MC, Zoghby Z, Harris PC, Torres VE, Johnson JN, Chebib FT. Chedid M, et al. Among authors: senum sr. Am J Nephrol. 2022;53(4):316-324. doi: 10.1159/000522377. Epub 2022 Mar 21. Am J Nephrol. 2022. PMID: 35313307 Free PMC article.
The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait.
Ali H, Naim M, Senum SR, AlSahow A, Bahbahani Y, Abu-Farha M, Abubaker J, Mohammad A, Al-Hunayan A, Asbeutah AM, Zayed M, Devarajan S, Hussain N, John SE, Channanath A, Thanaraj TA, Al-Ali M, AlMousawi M, Al-Mulla F, Harris PC. Ali H, et al. Among authors: senum sr. Clin Kidney J. 2022 Oct 28;16(2):355-366. doi: 10.1093/ckj/sfac236. eCollection 2023 Feb. Clin Kidney J. 2022. PMID: 36755831 Free PMC article.
25 results