Boukje de Vries

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 · 444 citations

Ocular Disease, C-terminal Truncations, Retina +8

Genome-wide association study reveals three susceptibility loci for common migraine in the general population

Daniel I. Chasman, Markus Schürks, Verneri Anttila et al. · Nature Genetics · 2011 · 420 citations · Full text

Genome-wide Association Study, Cluster Headache, Genotype-phenotype Association +10

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi et al. · Nature Genetics · 2012 · 417 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +8

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Leanne M. Dibbens, Boukje de Vries, Simona Donatello et al. · Nature Genetics · 2013 · 358 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

Genome-wide association analysis identifies susceptibility loci for migraine without aura

Tobias Freilinger, Verneri Anttila, Boukje de Vries et al. · Nature Genetics · 2012 · 339 citations · Full text

Genome-wide Association Study, Cluster Headache, Neurogenomics +5