Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy
Henrike Heyne, Mykyta Artomov, Florian Battke, Claudia Bianchini, Douglas R. Smith, Nora Liebmann, Vasisht R. Tadigotla, Christine M. Stanley, Dennis Lal, Heidi L. Rehm, Holger Lerche, Mark J. Daly, Ingo Helbig, Saskia Biskup, Yvonne G. Weber, Johannes R. Lemke
The paper analyzes genetic variants in 6,994 individuals with neurodevelopmental disorder with epilepsy to assess diagnostic yield and identify ultra-rare variants in associated genes.
Genetics in Medicine · May 6, 2019Peer-reviewedGenetics