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Editorial
. 2023 Apr 1;34(4):519-520.
doi: 10.1681/ASN.0000000000000077. Epub 2023 Feb 9.

Kidney Genetics: Continuing Discoveries and a Roadmap to the Clinic

John R Sedor  1   2
Affiliations
Editorial

Kidney Genetics: Continuing Discoveries and a Roadmap to the Clinic

John R Sedor. J Am Soc Nephrol. .

Abstract

This article contains a podcast at https://dts.podtrac.com/redirect.mp3/www.asn-online.org/media/podcast/JASN/2023_04_03_JASN2022060725.mp3

PubMed Disclaimer

Conflict of interest statement

J.R. Sedor reports consultancy: Boehringer Ingelheim; Research Funding: Calliditas, Goldfinch Bio, Novartis, and Travere for clinical trials; Honoraria: Boehringer Ingelheim; Patents or Royalties: APOL1 transgenic mice licensed to Sanofi Genzyme; Invention disclosure for machine learning analysis of kidney biopsies; Advisory or Leadership Role: Kidney Foundation of Ohio—kidney patient organization for direct aid—Board of Directors, NephCure Kidney International, Chair Kidney X Steering Committee; and Other Interests or Relationships: Editorial Boards—Seminars in Nephrology, Journal of the American Society of Nephrology, American Journal of Nephrology, Glomerular Diseases, ISN—Member.

Comment on

  • Genomic Disorders in CKD across the Lifespan.
    Verbitsky M, Krishnamurthy S, Krithivasan P, Hughes D, Khan A, Marasà M, Vena N, Khosla P, Zhang J, Lim TY, Glessner JT, Weng C, Shang N, Shen Y, Hripcsak G, Hakonarson H, Ionita-Laza I, Levy B, Kenny EE, Loos RJF, Kiryluk K, Sanna-Cherchi S, Crosslin DR, Furth S, Warady BA, Igo RP Jr, Iyengar SK, Wong CS, Parsa A, Feldman HI, Gharavi AG. Verbitsky M, et al. J Am Soc Nephrol. 2023 Apr 1;34(4):607-618. doi: 10.1681/ASN.2022060725. Epub 2022 Oct 27. J Am Soc Nephrol. 2023. PMID: 36302597 Free PMC article.
  • A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.
    Becherucci F, Landini S, Palazzo V, Cirillo L, Raglianti V, Lugli G, Tiberi L, Dirupo E, Bellelli S, Mazzierli T, Lomi J, Ravaglia F, Sansavini G, Allinovi M, Giannese D, Somma C, Spatoliatore G, Vergani D, Artuso R, Rosati A, Cirami C, Dattolo PC, Campolo G, De Chiara L, Papi L, Vaglio A, Lazzeri E, Anders HJ, Mazzinghi B, Romagnani P. Becherucci F, et al. J Am Soc Nephrol. 2023 Apr 1;34(4):706-720. doi: 10.1681/ASN.0000000000000076. Epub 2023 Jan 17. J Am Soc Nephrol. 2023. PMID: 36753701 Free PMC article.

References

    1. Verbitsky M, Krishnamurthy S, Krithivasan P, et al. Genomic disorders in CKD across the lifespan. J Am Soc Nephrol. 2023;34(4):607-618. doi:10.1681/ASN.2022060725 - DOI - PMC - PubMed
    1. Becherucci F. A clinical workflow for cost-saving high-rate diagnosis of genetic kidney diseases. J Am Soc Nephrol. 2023;34(4):706-720. doi:10.1681/ASN.0000000000000076 - DOI - PMC - PubMed
    1. Rasouly HM, Groopman EE, Heyman-Kantor R, et al. The burden of candidate pathogenic variants for kidney and genitourinary disorders emerging from exome sequencing. Ann Intern Med. 2019;170(1):11-21. doi:10.7326/m18-1241 - DOI - PubMed
    1. Knoers N, Antignac C, Bergmann C, et al. Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice. Nephrol Dial Transplant. 2022;37(2):239-254. doi:10.1093/ndt/gfab218 - DOI - PMC - PubMed
    1. Crawford K, Bracher-Smith M, Owen D, et al. Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank. J Med Genet. 2019;56(3):131-138. doi:10.1136/jmedgenet-2018-105477 - DOI - PubMed

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