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Diagnostic Utility of Exome Sequencing for Kidney Disease

2018; Massachusetts Medical Society; Volume: 380; Issue: 2 Linguagem: Inglês

10.1056/nejmoa1806891

1533-4406

Emily Groopman, Maddalena Marasà, Sophia Cameron‐Christie, Slavé Petrovski, Vimla S. Aggarwal, Hila Milo Rasouly, Yifu Li, Junying Zhang, Jordan G. Nestor, Priya Krithivasan, Wan Yee Lam, Adele Mitrotti, Stacy Piva, Byum Hee Kil, Debanjana Chatterjee, Rachel Reingold, Drew Bradbury, Michael DiVecchia, Holly Snyder, Xueru Mu, Karla Mehl, Olivia Balderes, David Fasel, Chunhua Weng, Jai Radhakrishnan, Pietro A. Canetta, Gerald B. Appel, Andrew S. Bomback, Wooin Ahn, Natalie Uy, Shumyle Alam, David Cohen, Russell J. Crew, Geoffrey K. Dube, Maya K. Rao, Sitharthan Kamalakaran, Brett Copeland, Zhong Ren, Joshua Bridgers, Colin D. Malone, Caroline M. Mebane, Neha Dagaonkar, Bengt Fellström, Carolina Haefliger, Sumit Mohan, Simone Sanna‐Cherchi, Krzysztof Kiryluk, Jan Fleckner, Ruth March, Adam Platt, David B. Goldstein, Ali G. Gharavi,

Metabolism and Genetic Disorders

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.