Genetic & Genomic MedicinemedRxivPreprint
Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies
Jacob E. Munro, Harshini Thiyagarajah, Mark F. Bennett…·Michael S. Hildebrand
Genome sequencing improves diagnostic yield for developmental and epileptic encephalopathies by identifying structural and non-coding variants missed by exome or gene panel testing.