Marjon van Slegtenhorst
Affiliations: | Erasmus Medical Center Rotterdam, Rotterdam, Netherlands |
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| Scala M, Drouot N, MacLennan SC, et al. (2022) De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes. Human Mutation |
| Jeanne M, Demory H, Moutal A, et al. (2021) Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. American Journal of Human Genetics |
| Perenthaler E, Nikoncuk A, Yousefi S, et al. (2019) Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. Acta Neuropathologica |
| Dobyns WB, Aldinger KA, Ishak GE, et al. (2018) MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. American Journal of Human Genetics |
| Cheng H, Dharmadhikari AV, Varland S, et al. (2018) Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. American Journal of Human Genetics |
| Harper CB, Mancini GMS, van Slegtenhorst M, et al. (2017) Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder. Neurobiology of Disease |
| Mattioli F, Schaefer E, Magee A, et al. (2016) Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. American Journal of Human Genetics |