Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Siddharth SrivastavaJamie A Love-NicholsKira A DiesDavid H LedbetterChrista L MartinWendy K ChungHelen V FirthThomas FrazierRobin L HansenLisa ProckHan BrunnerNy HoangStephen W SchererMustafa SahinDavid T Millernull nullPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
Our review demonstrates that ES consistently outperforms CMA for evaluation of unexplained NDDs. We propose a diagnostic algorithm placing ES at the beginning of the evaluation of unexplained NDDs.