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 · 336 citations · Full text

Exome Sequencing, Genetics, Genetic Epidemiology +23

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 · 260 citations · Full text

Biology, Molecular Physiology, Signal Transduction +14

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 · 228 citations · Full text

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 · 226 citations · Full text

Molecular Biology, Short-chain Ubiquitination, Cellular Physiology +20

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Tony Roscioli, Erik‐Jan Kamsteeg, Karen Buysse et al. · Nature Genetics · 2012 · 209 citations · Full text

Mendelian Disorder, Genetic Disorder, Inherited Metabolic Disease +9