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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 3
2010 1
2011 1
2012 3
2013 1
2014 1
2015 2
2016 4
2017 1
2018 5
2019 4
2020 3
2021 1
2022 6
2023 4
2024 4

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42 results

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Page 1
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
Viering D, Schlingmann KP, Hureaux M, Nijenhuis T, Mallett A, Chan MMY, van Beek A, van Eerde AM, Coulibaly JM, Vallet M, Decramer S, Pelletier S, Klaus G, Kömhoff M, Beetz R, Patel C, Shenoy M, Steenbergen EJ, Anderson G, Bongers EMHF, Bergmann C, Panneman D, Rodenburg RJ, Kleta R, Houillier P, Konrad M, Vargas-Poussou R, Knoers NVAM, Bockenhauer D, de Baaij JHF; Genomics England Research Consortium. Viering D, et al. Among authors: van eerde am. J Am Soc Nephrol. 2022 Feb;33(2):305-325. doi: 10.1681/ASN.2021050596. Epub 2021 Oct 4. J Am Soc Nephrol. 2022. PMID: 34607911 Free PMC article.
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: van eerde am. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. PMID: 38196618 Free PMC article. Preprint.
Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.
de Haan A, van Eerde AM, Eijgelsheim M, Rump P, van der Zwaag B, Hennekam E, Živná M, Kmoch S, Bleyer AJ, Kidd K, Vogt L, Knoers NVAM, de Borst MH. de Haan A, et al. Among authors: van eerde am. Kidney Int. 2023 May;103(5):986-989. doi: 10.1016/j.kint.2023.02.021. Epub 2023 Mar 22. Kidney Int. 2023. PMID: 37085259 Free article. No abstract available.
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: van eerde am. 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
Preimplantation Genetic Testing for Monogenic Kidney Disease.
Snoek R, Stokman MF, Lichtenbelt KD, van Tilborg TC, Simcox CE, Paulussen ADC, Dreesen JCMF, van Reekum F, Lely AT, Knoers NVAM, de Die-Smulders CEM, van Eerde AM. Snoek R, et al. Among authors: van eerde am. Clin J Am Soc Nephrol. 2020 Sep 7;15(9):1279-1286. doi: 10.2215/CJN.03550320. Epub 2020 Aug 27. Clin J Am Soc Nephrol. 2020. PMID: 32855195 Free PMC article.
Genetics-first approach improves diagnostics of ESKD patients <50 years old.
Snoek R, van Jaarsveld RH, Nguyen TQ, Peters EDJ, Elferink MG, Ernst RF, Rookmaaker MB, Lilien MR, Spierings E, Goldschmeding R, Knoers NVAM, van der Zwaag B, van Zuilen AD, van Eerde AM. Snoek R, et al. Among authors: van eerde am. Nephrol Dial Transplant. 2022 Jan 25;37(2):349-357. doi: 10.1093/ndt/gfaa363. Nephrol Dial Transplant. 2022. PMID: 33306124
Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.
Claus LR, Snoek R, Knoers NVAM, van Eerde AM. Claus LR, et al. Among authors: van eerde am. Am J Med Genet C Semin Med Genet. 2022 Sep;190(3):358-376. doi: 10.1002/ajmg.c.31995. Epub 2022 Sep 26. Am J Med Genet C Semin Med Genet. 2022. PMID: 36161467 Free PMC article. Review.
42 results