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De novo mutations in PLXND1 and REV3L cause Möbius syndrome.
Tomas-Roca L, Tsaalbi-Shtylik A, Jansen JG, Singh MK, Epstein JA, Altunoglu U, Verzijl H, Soria L, van Beusekom E, Roscioli T, Iqbal Z, Gilissen C, Hoischen A, de Brouwer APM, Erasmus C, Schubert D, Brunner H, Pérez Aytés A, Marin F, Aroca P, Kayserili H, Carta A, de Wind N, Padberg GW, van Bokhoven H. Tomas-Roca L, et al. Among authors: schubert d. Nat Commun. 2015 Jun 12;6:7199. doi: 10.1038/ncomms8199. Nat Commun. 2015. PMID: 26068067 Free PMC article.
Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling.
Frega M, Linda K, Keller JM, Gümüş-Akay G, Mossink B, van Rhijn JR, Negwer M, Klein Gunnewiek T, Foreman K, Kompier N, Schoenmaker C, van den Akker W, van der Werf I, Oudakker A, Zhou H, Kleefstra T, Schubert D, van Bokhoven H, Nadif Kasri N. Frega M, et al. Among authors: schubert d. Nat Commun. 2019 Oct 30;10(1):4928. doi: 10.1038/s41467-019-12947-3. Nat Commun. 2019. PMID: 31666522 Free PMC article.
Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders.
Linda K, Lewerissa EI, Verboven AHA, Gabriele M, Frega M, Klein Gunnewiek TM, Devilee L, Ulferts E, Hommersom M, Oudakker A, Schoenmaker C, van Bokhoven H, Schubert D, Testa G, Koolen DA, de Vries BBA, Nadif Kasri N. Linda K, et al. Among authors: schubert d. Autophagy. 2022 Feb;18(2):423-442. doi: 10.1080/15548627.2021.1936777. Epub 2021 Jul 21. Autophagy. 2022. PMID: 34286667 Free PMC article.
Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro.
Mossink B, Verboven AHA, van Hugte EJH, Klein Gunnewiek TM, Parodi G, Linda K, Schoenmaker C, Kleefstra T, Kozicz T, van Bokhoven H, Schubert D, Nadif Kasri N, Frega M. Mossink B, et al. Among authors: schubert d. Stem Cell Reports. 2021 Sep 14;16(9):2182-2196. doi: 10.1016/j.stemcr.2021.07.001. Epub 2021 Jul 29. Stem Cell Reports. 2021. PMID: 34329594 Free PMC article.
Brunner syndrome associated MAOA mutations result in NMDAR hyperfunction and increased network activity in human dopaminergic neurons.
van Rhijn JR, Shi Y, Bormann M, Mossink B, Frega M, Recaioglu H, Hakobjan M, Klein Gunnewiek T, Schoenmaker C, Palmer E, Faivre L, Kittel-Schneider S, Schubert D, Brunner H, Franke B, Nadif Kasri N. van Rhijn JR, et al. Among authors: schubert d. Neurobiol Dis. 2022 Feb;163:105587. doi: 10.1016/j.nbd.2021.105587. Epub 2021 Dec 16. Neurobiol Dis. 2022. PMID: 34923109 Free article.
Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway.
Wang S, Rhijn JV, Akkouh I, Kogo N, Maas N, Bleeck A, Ortiz IS, Lewerissa E, Wu KM, Schoenmaker C, Djurovic S, van Bokhoven H, Kleefstra T, Nadif Kasri N, Schubert D. Wang S, et al. Among authors: schubert d. Cell Rep. 2022 May 3;39(5):110790. doi: 10.1016/j.celrep.2022.110790. Cell Rep. 2022. PMID: 35508131 Free PMC article.
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Kummeling J, Stremmelaar DE, Raun N, Reijnders MRF, Willemsen MH, Ruiterkamp-Versteeg M, Schepens M, Man CCO, Gilissen C, Cho MT, McWalter K, Sinnema M, Wheless JW, Simon MEH, Genetti CA, Casey AM, Terhal PA, van der Smagt JJ, van Gassen KLI, Joset P, Bahr A, Steindl K, Rauch A, Keller E, Raas-Rothschild A, Koolen DA, Agrawal PB, Hoffman TL, Powell-Hamilton NN, Thiffault I, Engleman K, Zhou D, Bodamer O, Hoefele J, Riedhammer KM, Schwaibold EMC, Tasic V, Schubert D, Top D, Pfundt R, Higgs MR, Kramer JM, Kleefstra T. Kummeling J, et al. Among authors: schubert d. Mol Psychiatry. 2021 Jun;26(6):2013-2024. doi: 10.1038/s41380-020-0725-5. Epub 2020 Apr 28. Mol Psychiatry. 2021. PMID: 32346159
707 results