Diagnostic Utility of Exome Sequencing for Kidney Disease.
Emily E GroopmanMaddalena MarasaSophia Cameron-ChristieSlavé PetrovskiVimla S AggarwalHila Milo-RasoulyYifu LiJunying ZhangJordan NestorPriya KrithivasanWan Yee LamAdele MitrottiStacy PivaByum H KilDebanjana ChatterjeeRachel ReingoldDrew BradburyMichael DiVecchiaHolly SnyderXueru MuKarla MehlOlivia BalderesDavid A FaselChunhua WengJai RadhakrishnanPietro A CanettaGerald B AppelAndrew S BombackWooin AhnNatalie S UyShumyle AlamDavid J CohenRussell J CrewGeoffrey K DubeMaya K RaoSitharthan KamalakaranBrett CopelandZhong RenJoshua BridgersColin D MaloneCaroline M MebaneNeha DagaonkarBengt C FellströmCarolina HaefligerSumit MohanSimone Sanna-CherchiKrzysztof KirylukJan FlecknerRuth MarchAdam PlattDavid B GoldsteinAli G GharaviPublished in: The New England journal of medicine (2018)
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.).