Diagnostic Utility of Exome Sequencing for Kidney Disease
Top Cited Papers
- 10 January 2019
- journal article
- research article
- Published by Massachusetts Medical Society in The New England Journal of Medicine
- Vol. 380 (2), 142-151
- https://doi.org/10.1056/nejmoa1806891
Abstract
Exome sequencing is emerging as a first-line diagnostic method in some clinical disciplines, but its usefulness has yet to be examined for most constitutional disorders in adults, including chronic kidney disease, which affects more than 1 in 10 persons globally.Keywords
Funding Information
- Columbia Institute of Genomic Medicine
- AstraZeneca
- American Society of Nephrology (Donald E. Wesson Research Fellowship)
- National Institute of Diabetes and Digestive and Kidney Diseases (1F30DK116473, 1T32DK108741-01)
This publication has 38 references indexed in Scilit:
- The Landscape of Clinical Trials in Nephrology: A Systematic Review of ClinicalTrials.govAmerican Journal of Kidney Diseases, 2014
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian DisordersThe New England Journal of Medicine, 2013
- Copy-Number Disorders Are a Common Cause of Congenital Kidney MalformationsAmerican Journal of Human Genetics, 2012
- The renal biopsy in the genomic eraPediatric Nephrology, 2012
- Exome Sequencing Can Improve Diagnosis and Alter Patient ManagementScience Translational Medicine, 2012
- Epidemiology of chronic kidney disease in childrenPediatric Nephrology, 2011
- Association of Trypanolytic ApoL1 Variants with Kidney Disease in African AmericansScience, 2010
- Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 geneHuman Genetics, 2010
- Rosuvastatin and Cardiovascular Events in Patients Undergoing HemodialysisThe New England Journal of Medicine, 2009
- Individuals With a Family History of ESRD Are a High-Risk Population for CKD: Implications for Targeted Surveillance and Intervention ActivitiesAmerican Journal of Kidney Diseases, 2009