Kaate R. J. Vanmolkot

C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

Anna Richards, Arn M. J. M. van den Maagdenberg, Joanna C. Jen et al. · Nature Genetics · 2007 · 452 citations

Life Sciences, Genetics, Molecular Biology +8

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

Hans van Bokhoven, Ben C.J. Hamel, Mike Bamshad et al. · The American Journal of Human Genetics · 2001 · 378 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Novel mutations in the Na⁺, K⁺‐ATPase pump gene <i>ATP1A2</i> associated with familial hemiplegic migraine and benign familial infantile convulsions

Kaate R. J. Vanmolkot, E. E. Kors, Jouke‐Jan Hottenga et al. · Annals of Neurology · 2003 · 360 citations

Life Sciences, Genetics, Neurology +17

Episodic Ataxia Associated With EAAT1 Mutation C186S Affecting Glutamate Reuptake

Boukje de Vries, Hafsa Mamsa, Anine H Stam et al. · Archives of Neurology · 2009 · 147 citations · Full text

Life Sciences, Genetics, Neurology +13

Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine

Boukje de Vries, Tobias Freilinger, Kaate R. J. Vanmolkot et al. · Neurology · 2007 · 120 citations · Full text

Life Sciences, Genetics, Neurology +17