Sabine Gijsen

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen et al. · Nature Genetics · 2012 · 304 citations · Full text

Baraitser-winter Syndrome, Genetic Disorder, Genetics +6

Next‐generation genetic testing for retinitis pigmentosa

Kornelia Neveling, Rob W.J. Collin, Christian Gilissen et al. · Human Mutation · 2012 · 284 citations · Full text

Multiplex Ligation-Dependent Probe Amplification

Judith W. M. Jeuken, S.J.B. Cornelissen, Sandra Boots‐Sprenger et al. · Journal of Molecular Diagnostics · 2006 · 126 citations · Full text

Bioanalysis, Molecular Biology, Nucleic Acid Amplification Test +2

RAS/RAF pathway activation in gliomas: the result of copy number gains rather than activating mutations

Judith W. M. Jeuken, Caroline Van den Broecke, Sabine Gijsen et al. · Acta Neuropathologica · 2007 · 108 citations

Neuro-oncology, Glioma, Medicine +9

Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement

Alejandro Estrada‐Cuzcano, Kornelia Neveling, Susanne Kohl et al. · The American Journal of Human Genetics · 2011 · 98 citations · Full text