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Page 1
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. 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.
UMOD and you! Explaining a rare disease diagnosis.
Mabillard H, Olinger E, Sayer JA. Mabillard H, et al. Among authors: olinger e. J Rare Dis (Berlin). 2022;1(1):4. doi: 10.1007/s44162-022-00005-4. Epub 2022 Dec 7. J Rare Dis (Berlin). 2022. PMID: 36569465 Free PMC article. Review.
Routine Urinary Biochemistry Does Not Accurately Predict Stone Type Nor Recurrence in Kidney Stone Formers: A Multicentre, Multimodel, Externally Validated Machine-Learning Study.
Geraghty RM, Wilson I, Olinger E, Cook P, Troup S, Kennedy D, Rogers A, Somani BK, Dhayat NA, Fuster DG, Sayer JA. Geraghty RM, et al. Among authors: olinger e. J Endourol. 2023 Dec;37(12):1295-1304. doi: 10.1089/end.2023.0451. Epub 2023 Oct 31. J Endourol. 2023. PMID: 37830220
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, Binti Mazlan RA, 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: olinger e. Res Sq [Preprint]. 2024 Jun 10:rs.3.rs-4438861. doi: 10.21203/rs.3.rs-4438861/v1. Res Sq. 2024. PMID: 38903062 Free PMC article. Preprint.
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, Zarat… See abstract for full author list ➔ Lesmann H, et al. Among authors: olinger e. 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: olinger e. 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.
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.
Zagorec N, Calamel A, Delaporte M, Olinger E, Orr S, Sayer JA, Pillay VG, Denommé-Pichon AS, Mau-Them FT, Nambot S, Faivre L, Ars E, Torra R, Ong AC, Devuyst O, Perico N, Després AM, Lemoine H, de Fallois J, Brousse R, Hummel A, Knebelmann B, Maisonneuve N, Halbritter J, Le Meur Y, Audrézet MP, Cornec-Le Gall E; Genomics England Research Consortium, CYSTic Consortium and Genkyst Study Group. Zagorec N, et al. Among authors: olinger e. Am J Kidney Dis. 2024 Dec 26:S0272-6386(24)01126-0. doi: 10.1053/j.ajkd.2024.10.009. Online ahead of print. Am J Kidney Dis. 2024. PMID: 39732359
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: olinger e. 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.
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: olinger e. BMC Nephrol. 2024 Dec 18;25(1):449. doi: 10.1186/s12882-024-03896-1. BMC Nephrol. 2024. PMID: 39696072 Free PMC article.
76 results