Publications
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia (2021). doi:10.1111/epi.16931
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med 22, 538-546 (2020).
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. Am J Hum Genet 108, 749-756 (2021).