Genetic & Genomic MedicinemedRxivPreprint
Monoallelic de novo variants in DDX17 cause a novel neurodevelopmental disorder
Eleanor G. Seaby, Annie Godwin, Valentine Clerc…·Sarah Ennis
The paper identifies de novo monoallelic DDX17 variants in 11 patients with neurodevelopmental disorders and shows DDX17 dysfunction causes neuronal migration and axon outgrowth defects in multiple models.