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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.
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
Bosman W, Franken GAC, de Las Heras J, Madariaga L, Barakat TS, Oostenbrink R, van Slegtenhorst M, Perdomo-Ramírez A, Claverie-Martín F, van Eerde AM, Vargas-Poussou R, Dubourg LD, González-Recio I, Martínez-Cruz LA, de Baaij JHF, Hoenderop JGJ. Bosman W, et al. Among authors: van eerde am. Sci Rep. 2024 Mar 22;14(1):6917. doi: 10.1038/s41598-024-57061-7. Sci Rep. 2024. PMID: 38519529 Free PMC article.
Reassuring pregnancy outcomes in women with mild COL4A3-5-related disease (Alport syndrome) and genetic type of disease can aid personalized counseling.
Gosselink ME, Snoek R, Cerkauskaite-Kerpauskiene A, van Bakel SPJ, Vollenberg R, Groen H, Cerkauskiene R, Miglinas M, Attini R, Tory K, Claes KJ, van Calsteren K, Servais A, de Jong MFC, Gillion V, Vogt L, Mastrangelo A, Furlano M, Torra R, Bramham K, Wiles K, Ralston ER, Hall M, Liu L, Hladunewich MA, Lely AT, van Eerde AM; ALPART working group. Gosselink ME, et al. Among authors: van eerde am. Kidney Int. 2024 May;105(5):1088-1099. doi: 10.1016/j.kint.2024.01.034. Epub 2024 Feb 19. Kidney Int. 2024. PMID: 38382843 Free 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: 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
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.
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease.
Boulogne F, Claus LR, Wiersma H, Oelen R, Schukking F, de Klein N, Li S, Westra HJ, van der Zwaag B, van Reekum F; Genomics England Research Consortium; Sierks D, Schönauer R, Li Z, Bijlsma EK, Bos WJW, Halbritter J, Knoers NVAM, Besse W, Deelen P, Franke L, van Eerde AM. Boulogne F, et al. Among authors: van eerde am. Eur J Hum Genet. 2023 Nov;31(11):1300-1308. doi: 10.1038/s41431-023-01296-x. Epub 2023 Feb 20. Eur J Hum Genet. 2023. PMID: 36807342 Free PMC article.
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