Article
Diagnostic Utility of Exome Sequencing for Kidney Disease.
The New England journal of medicine - 10 Jan 2019
Groopman Emily E, Marasa Maddalena, Cameron-Christie Sophia, Petrovski Slavé, Aggarwal Vimla S, Milo-Rasouly Hila, Li Yifu, Zhang Junying, Nestor Jordan, Krithivasan Priya, Lam Wan Yee, Mitrotti Adele, Piva Stacy, Kil Byum H, Chatterjee Debanjana, Reingold Rachel, Bradbury Drew, DiVecchia Michael, Snyder Holly, Mu Xueru, Mehl Karla, Balderes Olivia, Fasel David A, Weng Chunhua, Radhakrishnan Jai, Canetta Pietro, Appel Gerald B, Bomback Andrew S, Ahn Wooin, Uy Natalie S, Alam Shumyle, Cohen David J, Crew Russell J, Dube Geoffrey K, Rao Maya K, Kamalakaran Sitharthan, Copeland Brett, Ren Zhong, Bridgers Joshua, Malone Colin D, Mebane Caroline M, Dagaonkar Neha, Fellström Bengt C, Haefliger Carolina, Mohan Sumit, Sanna-Cherchi Simone, Kiryluk Krzysztof, Fleckner Jan, March Ruth, Platt Adam, Goldstein David B, Gharavi Ali G
Abstract excerpt
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...
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