Nienke E. Verbeek
Radboud University Nijmegen(NL)Radboud University Medical Center(NL)University Medical Center Utrecht(NL)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Genomic variations and chromosomal abnormalities, Ion channel regulation and function
Most-Cited Works
- → Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders(2017)566 cited
- → The landscape of epilepsy-related GATOR1 variants(2018)237 cited
- → GRIN2A -related disorders: genotype and functional consequence predict phenotype(2018)223 cited
- → Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants(2018)214 cited
- → De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability(2017)197 cited
- → De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy(2014)156 cited
- → Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in ‐related seizure phenotypes