Clinical utility of exome sequencing in infantile heart failure.
Alyssa L RitterEmma C BedoukianJustin H BergerDeborah CopenheaverChristopher J GrayIan KrantzKosuke IzumiJane JuusolaJacqueline LeonardKimberly LinLivija MedneAvni SantaniCara SkrabanSandra YangRebecca C Ahrens-NicklasPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
Given the broad differential diagnosis and critical status of infants with heart failure, rapid exome sequencing provides timely diagnoses, changes medical management, and should be the first-tier molecular test.