Kamsteeg, Erik-Jan

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Hamdan, F. F., Myers, C. T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A. D., Nassif, C., Diallo, O., Monlong, J., Cadieux-Dion, M., et al. (2017) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 445

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Lelieveld, S. H., Reijnders, M. R. F., Pfundt, R., Yntema, H. G., Kamsteeg, E.-J., de Vries, P., de Vries, B. B. A., Willemsen, M. H., Kleefstra, T., Löhner, K., et al. (2016) · Nature Neuroscience

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 442

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

Seong, E., Insolera, R., Dulovic, M., Kamsteeg, E., Trinh, J., Brüggemann, N., Sandford, E., Li, S., Ozel, A. B., Li, J. Z., et al. (2018) · Annals of Neurology

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 163