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Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Kidney Int. 2022 May;101(5):1039-1053. doi: 10.1016/j.kint.2022.01.028. Epub 2022 Feb 26.
Kidney Int. 2022.
PMID: 35227688
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.
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.
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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: claus lr.
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.
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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.
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
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Medullary Sponge Kidney and its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics First Approach.
van den Berg G, Claus L, van der Zwaag B, Lakeman P, Kaasenbrood L, Sayer JA, Lilien M, van Eerde AM; Genomics England Research Consortium.
van den Berg G, et al.
Nephron. 2024 Mar 6. doi: 10.1159/000538037. Online ahead of print.
Nephron. 2024.
PMID: 38447554
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Preclinical Aortic Atherosclerosis in Adolescents With Chronic Disease.
Ververs FA, Eikendal ALM, Kofink D, Nuboer R, Westenberg JJM, Hovenkamp GT, Kemps JJA, Coenen ICJ, Daems JJN, Claus LR, Ju Y, Wulffraat NM, van der Ent CK, Monaco C, Boes M, Leiner T, Grotenhuis HB, Schipper HS.
Ververs FA, et al. Among authors: claus lr.
J Am Heart Assoc. 2022 Jul 19;11(14):e024675. doi: 10.1161/JAHA.122.024675. Epub 2022 Jul 13.
J Am Heart Assoc. 2022.
PMID: 35861840
Free PMC article.
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