Mascha M.V.A.P. Schijvenaars

Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia

Sascha Vermeer, Alexander Hoischen, Rowdy Meijer et al. · The American Journal of Human Genetics · 2010 · 147 citations · Full text

Autosomal-recessive Cerebellar Ataxia, Mendelian Disorder, Neurogenomics +7

An association study of 45 folate‐related genes in spina bifida: Involvement of <i>cubilin</i> (<i>CUBN</i>) and <i>tRNA aspartic acid methyltransferase 1</i> (<i>TRDMT1</i>)

Barbara Franke, Sita H. Vermeulen, Régine P.M. Steegers‐Theunissen et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 2009 · 70 citations · Full text

Development of a Genotype Assay for Age-Related Macular Degeneration

Anita de Breuk, İlhan E. Acar, Eveline Kersten et al. · Ophthalmology · 2020 · 59 citations · Full text

Genetic Variants in Toll-Like Receptors Are Not Associated with Rheumatoid Arthritis Susceptibility or Anti-Tumour Necrosis Factor Treatment Outcome

Marieke J. H. Coenen, Christian Enevold, Pilar Barrera et al. · PLoS ONE · 2010 · 30 citations · Full text

Genetic variants in <i>ZIC1</i>, <i>ZIC2</i>, and <i>ZIC3</i> are not major risk factors for neural tube defects in humans

Riko Klootwijk, Pascal Groenen, Mascha M.V.A.P. Schijvenaars et al. · American Journal of Medical Genetics Part A · 2003 · 24 citations · Full text