'Exome first' approach can reduce diagnostic costs and time - retrospective single centre analysis of 111 individuals with rare neurodevelopmental disorders
Julia Klau, Rami Abou Jamra, Maximilian Radtke, Henry Oppermann, Johannes R. Lemke, Skadi Beblo, Bernt Popp
This study shows that early exome sequencing in a German cohort of 111 individuals with rare neurodevelopmental disorders reduces diagnostic costs and time by avoiding unnecessary tests.
European Journal of Human Genetics · Oct 24, 2021Peer-reviewedGenetic & Genomic Medicine