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PreviewIssue DateTitleAuthor(s)
2015Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesisRamos-Brossier, M.; Montani, C.; Lebrun, N.; Gritti, L.; Martin, C.; Seminatore-Nole, C.; Toussaint, A.; Moreno, S.; Poirier, K.; Dorseuil, O.; Chelly, J.; Hackett, A.; Gecz, J.; Bieth, E.; Faudet, A.; Heron, D.; Kooy, R.; Loeys, B.; Humeau, Y.; Sala, C.; et al.
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.
2015Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activityBrookes, E.; Laurent, B.; Õunap, K.; Carroll, R.; Moeschler, J.; Field, M.; Schwartz, C.; Gecz, J.; Shi, Y.
2015Seizures are regulated by ubiquitin-specific peptidase 9 x-linked (USP9X), a de-ubiquitinasePaemka, L.; Mahajan, V.; Ehaideb, S.; Skeie, J.; Tan, M.; Wu, S.; Cox, A.; Sowers, L.; Gecz, J.; Jolly, L.; Ferguson, P.; Darbro, B.; Schneider, A.; Scheffer, I.; Carvill, G.; Mefford, H.; El-Shanti, H.; Wood, S.; Manak, J.; Bassuk, A.; Frankel, W.
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.
2015Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversalHaines, B.; Hughes, J.; Corbett, M.; Shaw, M.; Innes, J.; Patel, L.; Gecz, J.; Clayton-Smith, J.; Thomas, P.
2015Developmental disorders: deciphering exomes on a grand scaleGecz, J.; Corbett, M.

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