Literature DB >> 30031442

The time for next-generation molecular genetic diagnostics in nephrology is now!

Peter C Harris1.   

Abstract

Global and disease-group genetic testing is replacing single-gene molecular diagnostics. Bullich et al. demonstrate that gene panel analysis can result in a high yield of genetic diagnoses in cystic and familial glomerular populations. As the complexity of defining specific inherited kidney diseases becomes more apparent, a broader role for panel-based genomic testing in nephrology is now warranted. The resulting firm diagnosis can inform family planning decisions and aid prognostics and patient management.
Copyright © 2018 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

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Year:  2018        PMID： 30031442      PMCID： PMC6598196          DOI： 10.1016/j.kint.2018.03.025

Source DB:  PubMed          Journal:  Kidney Int        ISSN： 0085-2538            Impact factor:   10.612


  5 in total

1.  The KIDNEYCODE Program: Diagnostic Yield and Clinical Features of Individuals with CKD.

Authors:  Kenneth V Lieberman; Alexander R Chang; Geoffrey A Block; Kristina Robinson; Sara L Bristow; Ana Morales; Asia Mitchell; Stephen McCalley; Jim McKay; Martin R Pollak; Swaroop Aradhya; Bradley A Warady
Journal:  Kidney360       Date:  2022-03-10

2.  Diagnostic utility of genetic testing in patients undergoing renal biopsy.

Authors:  Katherine A Benson; Susan L Murray; Ross Doyle; Brendan Doyle; Anthony M Dorman; Denise Sadlier; Eoin Brennan; Margaret Large; Gianpiero L Cavalleri; Catherine Godson; Peter J Conlon
Journal:  Cold Spring Harb Mol Case Stud       Date:  2020-10-07

Review 3.  Emerging Role of Clinical Genetics in CKD.

Authors:  Prasad Devarajan; Glenn M Chertow; Katalin Susztak; Adeera Levin; Rajiv Agarwal; Peter Stenvinkel; Arlene B Chapman; Bradley A Warady
Journal:  Kidney Med       Date:  2022-02-11

4.  Co-occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2.

Authors:  Ramón Peces; Rocío Mena; Yolanda Martín; Concepción Hernández; Carlos Peces; Dolores Tellería; Emilio Cuesta; Rafael Selgas; Pablo Lapunzina; Julián Nevado
Journal:  Mol Genet Genomic Med       Date:  2020-06-13       Impact factor: 2.183

5.  Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes.

Authors:  Ramón Peces; Carlos Peces; Rocío Mena; Emilio Cuesta; Fe Amalia García-Santiago; Marta Ossorio; Sara Afonso; Pablo Lapunzina; Julián Nevado
Journal:  Genes (Basel)       Date:  2022-02-23       Impact factor: 4.096
  5 in total

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