The landscape of epilepsy-related GATOR1 variants
2018 · Genetics in Medicine · 236 citations
https://doi.org/10.1038/s41436-018-0060-2
N
Nienke E. Verbeek
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Nienke E. Verbeek is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders & Epilepsy research and treatment. The author has an h-index of 37, co-authored 64 publications.
Papers by this author
worksDe Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
2017 · The American Journal of Human Genetics · 197 citations
https://doi.org/10.1016/j.ajhg.2017.10.003
Exome sequencing identifies <i>DYNC2H1</i> mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
2013 · Journal of Medical Genetics · 140 citations
https://doi.org/10.1136/jmedgenet-2012-101284
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
2017 · Human Genetics · 117 citations
https://doi.org/10.1007/s00439-017-1772-0
Treatment Responsiveness in KCNT1-Related Epilepsy
2019 · Neurotherapeutics · 97 citations
https://doi.org/10.1007/s13311-019-00739-y
Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism
2011 · Neurogenetics · 85 citations
https://doi.org/10.1007/s10048-011-0297-2
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