Erik‐Jan Kamsteeg
Radboud University Nijmegen(NL)University Medical Center(US)Radboud University Medical Center(NL)Radboud Institute for Molecular Life Sciences(NL)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Muscle Physiology and Disorders, Ion channel regulation and function
Most-Cited Works
- → Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability(2016)460 cited
- → High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies(2017)451 cited
- → A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases(2013)338 cited
- → An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.(1998)260 cited
- → Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia(2016)238 cited
- → Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis(2010)232 cited