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Genomic Testing in Patients with Kidney Failure of an Unknown Cause: a National Australian Study.

Amali C MallawaarachchiLindsay FowlesLouise WardropAlasdair WoodRosie O'SheaErik BirosTrudie HarrisStephen I AlexanderSimon D BodekNeil BoudvilleJo BurkeLeslie BurnettSarah CasauriaSteve ChadbanAron ChakeraSam CrafterPei DaiPaul De FazioRandall FaullAndrew HondaVanessa HuntleySadia JahanKushani JayasingheMatthew D JoseAnna LeaverMandi MacShaneEvanthia Olympia MadelliKathleen M NichollsRhonda PawlowskiGopala K RanganPaul SnellingJacqueline SoraruMadhivanan SundaramMichel C TchanGiulia M ValenteMathew J WallisLaura WeddMatthew WellandJohn B WhitlamElla J WilkinsHugh McCarthyCas SimonsCatherine QuinlanChirag PatelZornitza StarkAndrew John Mallett
Published in: Clinical journal of the American Society of Nephrology : CJASN (2024)
In this prospectively ascertained Australian cohort, we identified a genetic diagnosis in 25% of patients with kidney failure of unknown cause.
Keyphrases
  • copy number
  • genome wide
  • quality improvement
  • gene expression