Erik‐Jan Kamsteeg

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Kornelia Neveling, Ilse Feenstra, Christian Gilissen et al. · Human Mutation · 2013 · 339 citations · Full text

Medicine, Genetics, Molecular Genetics +17

An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.

S.M. Mulders, Daniel G. Bichet, J.P.L. Rijss et al. · Journal of Clinical Investigation · 1998 · 261 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Esther Meyer, Keren Carss, Julia Rankin et al. · Nature Genetics · 2016 · 245 citations · Full text

Life Sciences, Genetics, Molecular Biology +10

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

Michèl A.A.P. Willemsen, Marcel M. Verbeek, Erik‐Jan Kamsteeg et al. · Brain · 2010 · 234 citations · Full text

Medicine, Neurology, Neuroscience +14

Short-chain ubiquitination mediates the regulated endocytosis of the aquaporin-2 water channel

Erik‐Jan Kamsteeg, Giel Hendriks, Michelle Boone et al. · Proceedings of the National Academy of Sciences · 2006 · 227 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17