• 1.

    Connaughton DM, et al. The Irish kidney gene proj-ect—prevalence of family history in patients with kidney disease in Ireland. Nephron 2015; 130:293301. doi: 10.1159/000436983

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 2.

    Crawford K, et al. Medical consequences of pathogenic CNVs in adults: Analysis of the UK Biobank. J Med Genet 2019; 56:131138. doi: 10.1136/jmedgenet-2018-105477

  • 3.

    Skrunes R, et al. Familial clustering of ESRD in the Norwegian population. Clin J Am Soc Nephrol 2014; 9:16921700. doi: 10.2215/CJN.01680214

  • 4.

    Groopman EE, et al. Diagnostic utility of exome sequencing for kidney disease. N Engl J Med 2019; 380:142151. doi: 10.1056/NEJMoa1806891

  • 5.

    Pinto E,Vairo F, et al. Genomics integration into nephrology practice. Kidney Med 2021; 3:785798. doi: 10.1016/j.xkme.2021.04.014

  • 6.

    Svarstad E, Marti HP. The changing landscape of Fabry disease. Clin J Am Soc Nephrol 2020; 15:569576. doi: 10.2215/CJN.09480819

  • 7.

    Verbitsky M, et al. Genomic disorders in CKD across the lifespan. J Am Soc Nephrol [published online ahead of print October 27, 2022]. doi: 10.1681/ASN.2022060725; https://jasn.asnjournals.org/content/early/2022/11/28/ASN.2022060725

    • PubMed
    • Search Google Scholar
    • Export Citation

Copy-number Variants and Genomic Disorders, Going Beyond Monogenic Explanations of Kidney Diseases

Michael Bernaba Michael Bernaba, MD, is a second-year nephrology fellow at the Mayo Clinic, Phoenix, AZ. Mira T. Keddis, MD, is an associate professor of medicine with the Division of Nephrology and Hypertension, Mayo Clinic, and director of education for the Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ.

Search for other papers by Michael Bernaba in
Current site
Google Scholar
PubMed
Close
and
Mira T. Keddis Michael Bernaba, MD, is a second-year nephrology fellow at the Mayo Clinic, Phoenix, AZ. Mira T. Keddis, MD, is an associate professor of medicine with the Division of Nephrology and Hypertension, Mayo Clinic, and director of education for the Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ.

Search for other papers by Mira T. Keddis in
Current site
Google Scholar
PubMed
Close
Restricted access
Save