Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.

doi:10.7326/M17-1319

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Article

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.

Annals of internal medicine - 16 Jan 2018

Lata Sneh, Marasa Maddalena, Li Yifu, Fasel David A, Groopman Emily, Jobanputra Vaidehi, Rasouly Hila, Mitrotti Adele, Westland Rik, Verbitsky Miguel, Nestor Jordan, Slater Lindsey M, D'Agati Vivette, Zaniew Marcin, Materna-Kiryluk Anna, Lugani Francesca, Caridi Gianluca, Rampoldi Luca, Mattoo Aditya, Newton Chad A, Rao Maya K, Radhakrishnan Jai, Ahn Wooin, Canetta Pietro A, Bomback Andrew S, Appel Gerald B, Antignac Corinne, Markowitz Glen S, Garcia Christine K, Kiryluk Krzysztof, Sanna-Cherchi Simone, Gharavi Ali G

Abstract excerpt

Background: The utility of whole-exome sequencing (WES) for the diagnosis and management of adult-onset constitutional disorders has not been adequately studied. Genetic diagnostics may be advantageous in adults with chronic kidney disease (CKD), in whom the cause of kidney failure often remains unknown. Objective: To study the diagnostic utility of WES in a selected referral population of adults with CKD....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 29204651
DOI: 10.7326/M17-1319
PMCID: PMC5947852

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PARN
BRCA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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