Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.
Henrike O HeyneMykyta ArtomovFlorian BattkeClaudia BianchiniDouglas R SmithNora LiebmannVasisht TadigotlaChristine M StanleyDennis LalHeidi L RehmHolger LercheMark J DalyIngo HelbigSaskia BiskupYvonne G WeberJohannes R LemkePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
We show that improvement of panel design increased diagnostic yield over time, but panels still display genes with low or no diagnostic yield. With our data, we hope to improve current diagnostic NDD+E panel design and provide a resource of ultrarare variants in individuals with NDD+E to the community.