Researcher Profile

Erik‐Jan Kamsteeg

🏛 Department of Human Genetics Radboud University Medical Centre Nijmegen the Netherlands

Publications

205

Citations

Co-Authors

Active Years

Publications

Open Access Journal Article Movement Disorders Jan 08, 2026

Clinical, Genetic, and Imaging Characteristics of SCA27B : Insights from a Large Dutch Cohort

Teije H. van Prooije · Maartje Pennings · Roderick P.P.W.M. Maas · Jeroen de Vries +23 more

10.1002/mds.70190 3 citations

Open Access Journal Article Current Protocols Jul 01, 2024

Optical Genome Mapping for Applications in Repeat Expansion Disorders

Bart van der Sanden · Kornelia Neveling · Andy Wing Chun Pang · Syukri Shukor +5 more

10.1002/cpz1.1094 7 citations

Open Access Journal Article Annals of Neurology Jun 01, 2018

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects

Eunju Seong · Ryan Insolera · Marija Dulovic · Erik‐Jan Kamsteeg +15 more

10.1002/ana.25220 156 citations

Journal Article American Journal of Medical Genetics Part A May 07, 2018

KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome

Saud Alsahli · Stefan T. Arold · Ahmed Alfares · Bader Alhaddad +4 more

10.1002/ajmg.a.38723 11 citations

Journal Article Annals of Neurology Apr 30, 2018

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

Nicolas Chatron · Rikke S. Møller · Neena L. Champaigne · Amy L. Schneider +23 more

10.1002/ana.25222 28 citations

Publication Timeline

2026

2024

2018

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