Nienke E. Verbeek - Concepedia

Author

Nienke E. Verbeek

Also Known As

Hermine E Veenstra-Knol, Maria Soller, N. E. Verbeek, N. Verbeek, Nienke E Verbeek, Nienke E. Verbeek, Nienke Verbeek, Noortje Verbeek, Verbeek, Nienke E.

Publications

4.5K

Citations

H-Index

Concepts

All Affiliations

University Medical Center Utrecht Radboud University Nijmegen Radboud University Medical Center Inserm Utrecht University

About

Nienke E. Verbeek is an author at University Medical Center Utrecht specializing in medicine, genetics, and neuroscience.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	23	27	2K
2	Social Sciences	10	10	678
3	Engineering	1	1	18
4	Natural Sciences	1	1	142
5	Biochemistry	1	1	27

Nienke E. Verbeek

Publications

Citations

H-Index

Page 1

	Year	Citations
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich, Brain	2017	558
The landscape of epilepsy-related GATOR1 variants Sara Baldassari, Fabienne Picard, Nienke E. Verbeek, Genetics in Medicine	2018	236
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld, Genetics in Medicine Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsGenetic Epidemiology	2018	211
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsMolecular GeneticsDisease Gene Identification	2017	193
Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in <i><scp>SCN</scp>1A</i>‐related seizure phenotypes Iris Lange, Boudewijn Gunning, Anja C. M. Sonsma, Epilepsia	2018	155
De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy Jae-Ran Lee, Myriam Srour, Doyoun Kim, Human Mutation Neurological DisorderGeneticsSpastic ParaparesisDisease Gene IdentificationDe Novo Mutations	2014	151
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Ghayda Mirzaa, David Parry, Andrew E. Fry, Nature Genetics Disease MechanismGenetic DisorderPathogenesisAutophagyPathology	2014	148
Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism Bert van der Zwaag, Lude Franke, Martin Poot, PLoS ONE GeneticsMolecular BiologyGene CharacterizationDisease Gene IdentificationGenomics	2009	142
Exome sequencing identifies <i>DYNC2H1</i> mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement Miriam Schmidts, Heleen H. Arts, Ernie M.H.F. Bongers, Journal of Medical Genetics	2013	139
A co‐segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder Bert van der Zwaag, Wouter Staal, Ron Hochstenbach, American Journal of Medical Genetics Part B Neuropsychiatric Genetics NeurogenomicsGeneticsRisk GenesMolecular GeneticsDisease Gene Identification	2009	111

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