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PreviewIssue DateTitleAuthor(s)
2019Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in femalesJackson, M.R.; Loring, K.E.; Homan, C.C.; Thai, H.N.; Määttänen, L.; Arvio, M.; Jarvela, I.; Shaw, M.; Gardner, A.; Gecz, J.; Shoubridge, C.
2013A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXPoeta, L.; Fusco, F.; Drongitis, D.; Shoubridge, C.; Manganelli, G.; Filosa, S.; Paciolla, M.; Courtney, M.; Collombat, P.; Lioi, M.; Gecz, J.; Ursini, M.; Miano, M.
2014Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthHoman, C.; Kumar, R.; Nguyen, L.; Haan, E.; Raymond, F.; Abidi, F.; Raynaud, M.; Schwartz, C.; Wood, S.; Gecz, J.; Jolly, L.
2016Pcdh19 loss-of-function increases neuronal migration in vitro but is dispensable for brain development in micePederick, D.; Homan, C.; Jaehne, E.; Piltz, S.; Haines, B.; Baune, B.; Jolly, L.; Hughes, J.; Gecz, J.; Thomas, P.
2018A Upf3b-mutant mouse model with behavioral and neurogenesis defectsHuang, L.; Shum, E.; Jones, S.; Lou, C.-H.; Dumdie, J.; Kim, H.; Roberts, A.; Jolly, L.; Espinoza, J.; Skarbrevik, D.; Phan, M.; Cook-Andersen, H.; Swerdlow, N.; Gecz, J.; Wilkinson, M.
2013Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesisStegeman, S.; Jolly, L.; Premarathne, S.; Gecz, J.; Richards, L.; Mackay-Sim, A.; Wood, S.; Alsina, B.