Erik-Jan Kamsteeg

31PUBLICATIONS
350CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesHuman impacts of climate change and human adaptationDevelopmental genetics (incl. sex determination)Molecular evolution
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Publications (31)

|Jul 28, 2026
Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.

|Jul 17, 2026
NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

|Jun 19, 2026
Reply to: residual risk after familial RYR1 testing: interpreting malignant hyperthermia susceptibility in the context of regional testing strategies.

|May 12, 2026
EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disorders.

|Feb 12, 2026
Missense variants in TUBA4A cause myo-tubulinopathies.

Mridul Johari, Chiara Folland, Yoshihiko Saito

|Jan 19, 2026
Autosomal Dominant FTH1 Variant Causing Pontocerebellar Hypoplasia and Late-Onset Neuroferritinopathy: A Case Report.

Jasmijn Annemiek Hebbink, Jikke-Mien F Niermeijer, Elene Vroegindeweij

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Frequent Collaborators

7 joint publications

Christian Gilissen

6 joint publications

Lisenka E L M Vissers

4 joint publications

Alan H Beggs

4 joint publications

Heinz Jungbluth