The DOI matches its Crossref record; 34 of the 34 references it cites were found in a registry or an index.
Diagnostic Utility of Exome Sequencing for Kidney Disease
Open accessAbstract
BACKGROUND: 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. METHODS: We conducted exome sequencing and diagnostic analysis in two cohorts totaling 3315 patients with chronic kidney disease. We assessed the diagnostic yield and, among the patients for whom detailed clinical data were available, the clinical implications of diagnostic and other medically relevant findings. RESULTS: In all, 3037 patients (91.6%) were over 21 years of age, and 1179 (35.6%) were of self-identified non-European ancestry. We detected diagnostic variants in 307 of the 3315 patients (9.3%), encompassing 66 different monogenic disorders. Of the disorders detected, 39 (59%) were found in only a single patient. Diagnostic variants were detected across all clinically defined categories, including congenital or cystic renal disease (127 of 531 patients [23.9%]) and nephropathy of unknown origin (48 of 281 patients [17.1%]). Of the 2187 patients assessed, 34 (1.6%) had genetic findings for medically actionable disorders that, although unrelated to their nephropathy, would also lead to subspecialty referral and inform renal management. CONCLUSIONS: Exome sequencing in a combined cohort of more than 3000 patients with chronic kidney disease yielded a genetic diagnosis in just under 10% of cases. (Funded by the National Institutes of Health and others.).
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Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594
Rosuvastatin and Cardiovascular Events in Patients Undergoing Hemodialysis
Fellström, B. C., Jardine, A. G., Schmieder, R. E., Holdaas, H., Bannister, K., Beutler, J., Chae, D.-W., Chevaile, A., Cobbe, S. M., Grönhagen-Riska, C., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0810177 · Cited by 2,036
Self-citationAssociation of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans
Genovese, G., Friedman, D. J., Ross, M. D., Lecordier, L., Uzureau, P., Freedman, B. I., Bowden, D. W., Langefeld, C. D., Oleksyk, T. K., Uscinski Knob, A. L., et al. (2010) · Science · doi:10.1126/science.1193032 · Cited by 2,028
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Yang, Y., Muzny, D. M., Reid, J. G., Bainbridge, M. N., Willis, A., Ward, P. A., Braxton, A., Beuten, J., Xia, F., Niu, Z., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1306555 · Cited by 1,964
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer
Pritchard, C. C., Mateo, J., Walsh, M. F., De Sarkar, N., Abida, W., Beltran, H., Garofalo, A., Gulati, R., Carreira, S., Eeles, R., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1603144 · Cited by 1,680
Kalia, S. S., Adelman, K., Bale, S. J., Chung, W. K., Eng, C., Evans, J. P., Herman, G. E., Hufnagel, S. B., Klein, T. E., Korf, B. R., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2016.190 · Cited by 1,644
Germline Mutations in Predisposition Genes in Pediatric Cancer
Zhang, J., Walsh, M. F., Wu, G., Edmonson, M. N., Gruber, T. A., Easton, J., Hedges, D., Ma, X., Zhou, X., Yergeau, D. A., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1508054 · Cited by 1,345
Self-citationClinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Lee, H., Deignan, J. L., Dorrani, N., Strom, S. P., Kantarci, S., Quintero-Rivera, F., Das, K., Toy, T., Harry, B., Yourshaw, M., et al. (2014) · JAMA · doi:10.1001/jama.2014.14604 · Cited by 973
Global kidney health 2017 and beyond: a roadmap for closing gaps in care, research, and policy
Levin, A., Tonelli, M., Bonventre, J., Coresh, J., Donner, J.-A., Fogo, A. B., Fox, C. S., Gansevoort, R. T., Heerspink, H. J. L., Jardine, M., et al. (2017) · The Lancet · doi:10.1016/s0140-6736(17)30788-2 · Cited by 919
Pathogenic Germline Variants in 10,389 Adult Cancers
Huang, K.-L., Mashl, R. J., Wu, Y., Ritter, D. I., Wang, J., Oh, C., Paczkowska, M., Reynolds, S., Wyczalkowski, M. A., Oak, N., et al. (2018) · Cell · doi:10.1016/j.cell.2018.03.039 · Cited by 833
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KDIGO 2024 clinical practice guideline for the evaluation and management of chronic kidney disease
Stevens, P. E., Ahmed, S. B., Carrero, J. J., Foster, B., Francis, A., Hall, R. K., Herrington, W. G., Hill, G., Inker, L. A., Kazancıoğlu, R., et al. (2024) · Kidney International · doi:10.1016/j.kint.2023.10.018 · Cited by 8,530
Mechanisms of cognitive dysfunction in CKD
Viggiano, D., Wagner, C. A., Martino, G., Nedergaard, M., Zoccali, C., Unwin, R., & Capasso, G. (2020) · Nature Reviews Nephrology · doi:10.1038/s41581-020-0266-9 · Cited by 392
Advancing diagnosis and management of liver disease in adults through exome sequencing
Zheng, M., Hakim, A., Konkwo, C., Deaton, A. M., Ward, L. D., Silveira, M. G., Assis, D. N., Liapakis, A., Jaffe, A., Jiang, Z. G., et al. (2023) · EBioMedicine · doi:10.1016/j.ebiom.2023.104747 · Cited by 34
Metadata
- Authors
- Groopman, E. E., Marasa, M., Cameron-Christie, S., Petrovski, S., Aggarwal, V. S., Milo-Rasouly, H., Li, Y., Zhang, J., Nestor, J., Krithivasan, P., Lam, W. Y., Mitrotti, A., Piva, S., Kil, B. H., Chatterjee, D., Reingold, R., Bradbury, D., DiVecchia, M., Snyder, H., Mu, X., Mehl, K., Balderes, O., Fasel, D. A., Weng, C., Radhakrishnan, J., Canetta, P., Appel, G. B., Bomback, A. S., Ahn, W., Uy, N. S., Alam, S., Cohen, D. J., Crew, R. J., Dube, G. K., Rao, M. K., Kamalakaran, S., Copeland, B., Ren, Z., Bridgers, J., Malone, C. D., Mebane, C. M., Dagaonkar, N., Fellström, B. C., Haefliger, C., Mohan, S., Sanna-Cherchi, S., Kiryluk, K., Fleckner, J., March, R., Platt, A., Goldstein, D. B., & Gharavi, A. G.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2019-01-10
- Volume
- 380
- Issue
- 2
- Pages
- 142-151
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2906428833
- Cited by
- 783
- References
- 34
- FWCI
- 30.40
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Groopman, E. E., Marasa, M., Cameron-Christie, S., Petrovski, S., Aggarwal, V. S., Milo-Rasouly, H., Li, Y., Zhang, J., Nestor, J., Krithivasan, P., Lam, W. Y., Mitrotti, A., Piva, S., Kil, B. H., Chatterjee, D., Reingold, R., Bradbury, D., DiVecchia, M., Snyder, H., . . . Gharavi, A. G. (2019). Diagnostic Utility of Exome Sequencing for Kidney Disease. New England Journal of Medicine. https://doi.org/10.1056/nejmoa1806891
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