Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Mir Reza BekheirniaNasim BekheirniaMatthew N BainbridgeShen GuZeynep Hande Coban AkdemirTomasz GambinNicolette K JanzenShalini N JhangianiDonna M MuznyMini MichaelEileen D BrewerEwa ElenbergArundhati S KaleAlyssa A RileySarah J SwartzDaryl A ScottYaping YangPoyyapakkam R SrivathsScott E WenderferJoann Norma BodurthaCarolyn D ApplegateMilen VelinovAngela MyersLior BorovikWilliam J CraigenNeil A HanchardJill Anne RosenfeldRichard Alan LewisEdmond T GonzalesRichard A GibbsJohn W BelmontDavid R RothChristine EngMichael C BraunJames R LupskiDolores J LambPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
We conclude that WES can be used to identify molecular etiology (SNVs, CNVs) in a subset of individuals with CAKUT. WES can also help identify novel CAKUT genes.Genet Med 19 4, 412-420.