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PreviewIssue DateTitleAuthor(s)
2013ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityHirata, H.; McMichael, G.; Haan, E.; MacLennan, A.; Yap, T.; Nguyen, L.; Shaw, M.; Gecz, J.
2015HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.Jolly, L.; Nguyen, L.; Domingo, D.; Sun, Y.; Barry, S.; Hancarova, M.; Plevova, P.; Vlckova, M.; Havlovicova, M.; Kalscheuer, V.; Graziano, C.; Pippucci, T.; Bonora, E.; Sedlacek, Z.; Gecz, J.
2013The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowthJolly, L.; Homan, C.; Jacob, R.; Barry, S.; Gecz, J.
2001A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tardaTiller, G.; Hannig, V.; Dozier, D.; Carrel, L.; Trevarthen, K.; Wilcox, W.; Mundlos, S.; Haines, J.; Gedeon, A.; Gecz, J.
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.