Mariëlle E.M. Swinkels

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Carolien G. F. de Kovel, Holger Trucks, Heather C. Mefford et al. · Brain · 2009 · 448 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Dominant missense mutations in ABCC9 cause Cantú syndrome

Magdaléna Harakaľová, J. J. T. van Harssel, Stef van Lieshout et al. · Nature Genetics · 2012 · 200 citations

Life Sciences, Genetics, Molecular Genetics +9

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

Mariëlle E.M. Swinkels, Annet Simons, Dominique Smeets et al. · American Journal of Medical Genetics Part A · 2008 · 170 citations

Life Sciences, Genetics, Molecular Genetics +17

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

Annelies Rotthier, Jonathan Baets, Els De Vriendt et al. · Brain · 2009 · 166 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

Ragna S. Boerma, Kees P. J. Braun, Maarten P.H. van de Broek et al. · Neurotherapeutics · 2015 · 150 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +17