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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.
2015Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor geneIshibashi, M.; Manning, E.; Shoubridge, C.; Krecsmarik, M.; Hawkins, T.; Giacomotto, J.; Zhao, T.; Mueller, T.; Bader, P.; Cheung, S.; Stankiewicz, P.; Bain, N.; Hackett, A.; Reddy, C.; Mechaly, A.; Peers, B.; Wilson, S.; Lenhard, B.; Bally-Cuif, L.; Gecz, J.; et al.
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.
2012PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeHeron, S.; Grinton, B.; Kivity, S.; Afawi, Z.; Zuberi, S.; Hughes, J.; Pridmore, C.; Hodgson, B.; Iona, X.; Sadleir, L.; Pelekanos, J.; Herlenius, E.; Goldberg-Stern, H.; Bassan, H.; Haan, E.; Korczyn, A.; Gardner, A.; Corbett, M.; Gecz, J.; Thomas, P.; et al.
2010Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyGiannandrea, M.; Bianchi, V.; Mignogna, M.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L.; Ropers, H.; Tzschach, A.; Kalscheuer, V.; Oehl-Jaschkowitz, B.; Skinner, C.; Schwartz, C.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; et al.
2011Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decayBruno, I.; Karam, R.; Huang, L.; Bhardwaj, A.; Lou, C.; Shum, E.; Song, H.; Corbett, M.; Gifford, W.; Gecz, J.; Pfaff, S.; Wilkinson, M.
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.

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