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Page 1
UMOD Genotype and Determinants of Urinary Uromodulin in African Populations.
Strauss-Kruger M, Olinger E, Hofmann P, Wilson IJ, Mels C, Kruger R, Gafane-Matemane LF, Sayer JA, Ricci C, Schutte AE, Devuyst O. Strauss-Kruger M, et al. Among authors: sayer ja. Kidney Int Rep. 2024 Sep 21;9(12):3477-3489. doi: 10.1016/j.ekir.2024.09.015. eCollection 2024 Dec. Kidney Int Rep. 2024. PMID: 39698369 Free PMC article.
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Hagen MT, Thong MK, Mazlan RAB, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Chorin O… See abstract for full author list ➔ Lesmann H, et al. Among authors: sayer ja. medRxiv [Preprint]. 2024 Oct 8:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887. medRxiv. 2024. PMID: 37503210 Free PMC article. Preprint.
Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations: An Observational Study.
Kidd KO, Williams AH, Taylor A, Martin L, Robins V, Sayer JA, Olinger E, Mabillard HR, Papagregoriou G, Deltas C, Stavrou C, Conlon PJ, Hogan RE, Elhassan EAE, Springer D, Zima T, Izzi C, Vrbacká A, Piherová L, Pohludka M, Radina M, Vylet'al P, Hodanova K, Zivna M, Kmoch S, Bleyer AJ. Kidd KO, et al. Among authors: sayer ja. medRxiv [Preprint]. 2024 Jul 4:2024.07.03.24309887. doi: 10.1101/2024.07.03.24309887. medRxiv. 2024. Update in: BMC Nephrol. 2024 Dec 18;25(1):449. doi: 10.1186/s12882-024-03896-1 PMID: 39006416 Free PMC article. Updated. Preprint.
SGLT2-Inhibition in Patients With Alport Syndrome.
Boeckhaus J, Gale DP, Simon J, Ding J, Zhang Y, Bergmann C, Turner AN, Hall M, Sayer JA, Srivastava S, Kang HG, Cerkauskaite-Kerpauskiene A, Gillion V, Claes KJ, Krueger B, de Fallois J, Walden U, Choi M, Schueler M, Mueller RU, Todorova P, Hohenstein B, Zeisberg M, Friede T, Knebelmann B, Halbritter J, Gross O. Boeckhaus J, et al. Among authors: sayer ja. Kidney Int Rep. 2024 Sep 24;9(12):3490-3500. doi: 10.1016/j.ekir.2024.09.014. eCollection 2024 Dec. Kidney Int Rep. 2024. PMID: 39698346 Free PMC article.
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.
Kidd KO, Williams AH, Taylor A, Martin L, Robins V, Sayer JA, Olinger E, Mabillard HR, Papagregoriou G, Deltas C, Stavrou C, Conlon PJ, Hogan RE, Elhassan EAE, Springer D, Zima T, Izzi C, Vrbacká A, Piherová L, Pohludka M, Radina M, Vylet'al P, Hodanova K, Zivna M, Kmoch S, Bleyer AJ Sr. Kidd KO, et al. Among authors: sayer ja. BMC Nephrol. 2024 Dec 18;25(1):449. doi: 10.1186/s12882-024-03896-1. BMC Nephrol. 2024. PMID: 39696072 Free PMC article.
Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy.
Olinger E, Wilson IJ, Orr S, Barroso-Gil M, Neatu R; Genomics England Research Consortium; Atan D, Sayer JA. Olinger E, et al. Among authors: sayer ja. Genet Med Open. 2024 Feb 29;2:101834. doi: 10.1016/j.gimo.2024.101834. eCollection 2024. Genet Med Open. 2024. PMID: 39669628 Free PMC article.
ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases.
Almohlesy LS, Imtiaz F, Tulbah M, Alhashem A, Alhajooj M, Alhashem A, Mabillard H, Sayer JA, Alharbi KK, Al-Hamed MH. Almohlesy LS, et al. Among authors: sayer ja. Genes (Basel). 2024 Oct 25;15(11):1374. doi: 10.3390/genes15111374. Genes (Basel). 2024. PMID: 39596574 Free PMC article.
Role of Genetic Testing in Kidney Stone Disease: A Narrative Review.
Geraghty R, Lovegrove C, Howles S, Sayer JA. Geraghty R, et al. Among authors: sayer ja. Curr Urol Rep. 2024 Dec;25(12):311-323. doi: 10.1007/s11934-024-01225-5. Epub 2024 Aug 3. Curr Urol Rep. 2024. PMID: 39096463 Free PMC article. Review.
Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort.
Wong K, Pitcher D, Braddon F, Downward L, Steenkamp R, Masoud S, Annear N, Barratt J, Bingham C, Coward RJ, Chrysochou T, 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, Thomas K, Turner AN, Walsh SB, Waters A, Wilson P, Wong E, Sy KTL, Huang K, Ye J, Nitsch D, Saleem M, Bockenhauer D, Bramham K, Gale DP; RaDaR consortium. Wong K, et al. Among authors: sayer ja. Kidney Int Rep. 2024 May 9;9(7):2067-2083. doi: 10.1016/j.ekir.2024.04.062. eCollection 2024 Jul. Kidney Int Rep. 2024. PMID: 39081723 Free PMC article.
Progressive Kidney Failure by Angiotensinogen Inactivation in the Germline.
Wopperer FJ, Olinger E, Wiesener A, Broeker KAE, Knaup KX, Schaefer JT, Galiano M, Schneider K, Schiffer M; Genomics England Research Consortium; Büttner-Herold M, Reis A, Schmieder R, Pasutto F, Hilgers KF, Poglitsch M, Ziegler C, Shoemaker R, Sayer JA, Wiesener MS. Wopperer FJ, et al. Among authors: sayer ja. Hypertension. 2024 Sep;81(9):1857-1868. doi: 10.1161/HYPERTENSIONAHA.124.22806. Epub 2024 Jul 15. Hypertension. 2024. PMID: 39005223
235 results