Ellen van Beusekom

Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher et al. · The American Journal of Human Genetics · 2002 · 688 citations · Full text

Life Sciences, Genetics, Neuroscience +12

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

Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry

Lucas T. Jae, Matthijs Raaben, Moniek Riemersma et al. · Science · 2013 · 282 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

Hans van Bokhoven, Jacopo Celli, Hülya Kayserili et al. · Nature Genetics · 2000 · 270 citations

Life Sciences, Genetics, Molecular Genetics +7

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Tony Roscioli, Erik‐Jan Kamsteeg, Karen Buysse et al. · Nature Genetics · 2012 · 212 citations · Full text

Life Sciences, Genetics, Molecular Biology +12