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PreviewIssue DateTitleAuthor(s)
2013RAB40AL loss-of-function mutation does not cause X-linked intellectual disabilityKalscheuer, V.; Iqbal, Z.; Hu, H.; Haas, S.; Shaw, M.; Lebrun, N.; Seemanova, E.; Voesenek, K.; Hobson, L.; Ropers, H.H.; Townshend, S.; Raynaud, M.; van Bokhoven, H.; Riazuddin, S.; Chelly, J.; Gecz, J.
2013PCR amplification and sequence analysis of GC-rich sequences: Aristaless-related homeobox exampleTan, M.; Gecz, J.; Shoubridge, C.; Hatters, D.; Hannan, A.
2013Challenges of 'sticky' co-immunoprecipitation: Polyalanine tract protein-protein interactionsMattiske, T.; Tan, M.; Gecz, J.; Shoubridge, C.; Hatters, D.; Hannan, A.
2013FOXP1 mutations cause intellectual disability and a recognizable phenotypeLe Fevre, A.; Taylor, S.; Malek, N.; Horn, D.; Carr, C.; Abdul-Rahman, O.; O'Donnell, S.; Burgess, T.; Shaw, M.; Gecz, J.; Bain, N.; Fagan, K.; Hunter, M.
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.
2013TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformationAfawi, Z.; Mandelstam, S.; Korczyn, A.; Kivity, S.; Walid, S.; Shalata, A.; Oliver, K.; Corbett, M.; Gecz, J.; Berkovic, S.; Jackson, G.
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.
2013CCDC22 deficiency in humans blunts activation of proinfammatory NF-KappaB signalingStarokadomskyy, P.; Gluck, N.; Li, H.; Chen, B.; Wallis, M.; Maine, G.; Mao, X.; Zaidi, I.; Hein, M.; McDonald, F.; Lenzner, S.; Zecha, A.; Ropers, H.; Kuss, A.; McGaughran, J.; Gecz, J.; Burstein, E.

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