Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel-Reference-Cited by-同舟云学术

Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel

Published:2016-02-26 Issue:1 Volume:21 Page:63-75
ISSN:1342-1751
Container-title:Clinical and Experimental Nephrology
language:en
Short-container-title:Clin Exp Nephrol

Author:

Mori Takayasu,Hosomichi Kazuyoshi,Chiga Motoko,Mandai Shintaro,Nakaoka Hirofumi,Sohara Eisei,Okado Tomokazu,Rai Tatemitsu,Sasaki Sei,Inoue Ituro,Uchida Shinichi

Funder

Japan Society for the Promotion of Science

Ministry of Health, Labour and Welfare

Salt Science Research Foundation

Takeda Science Foundation

Banyu Life Science Foundation International

Publisher

Springer Science and Business Media LLC

Subject

Physiology (medical),Nephrology,Physiology

Link

http://link.springer.com/content/pdf/10.1007/s10157-016-1252-1.pdf

Reference21 articles.

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2. Renkema KY, Stokman MF, Giles RH, Knoers NV. Next-generation sequencing for research and diagnostics in kidney disease. Nat Rev Nephrol. 2014;10:433–44.

3. Schrier RW, Coffman TM, Falk RJ, et al. Schrier’s diseases of the kidney. Amsterdam: Wolters Kluwer; 2012.

4. Antoniadi T, Buxton C, Dennis G, Forrester N, Smith D, Lunt P, Burton-Jones S. Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. BMC Med Genet. 2015;16:84.

5. Polla DL, Cardoso MT, Silva MC, Cardoso IC, Medina CT, Araujo R, Fernandes CC, Reis AM, de Andrade RV, Pereira RW, Pogue R. Use of targeted exome sequencing for molecular diagnosis of skeletal disorders. PLoS One. 2015;10:e0138314.

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