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Results 1-10 of 12 (Search time: 0.001 seconds).
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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.
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.
2012A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityHuang, L.; Jolly, L.; Willis-Owen, S.; Gardner, A.; Sharma, R.; Douglas, E.; Shoubridge, C.; Wieczorek, D.; Tzschach, A.; Cohen, M.; Hackett, A.; Field, M.; Froyen, G.; Hu, H.; Haas, S.; Ropers, H.; Kalscheuer, V.; Corbett, M.; Gecz, J.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; 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.
2014Phenotype-genotype complexities: opening DOORSBerkovic, S.; Gecz, J.
2012CCDC22: a novel candidate gene for syndromic X-linked intellectual disabilityVoineagu, J.; Huang, L.; Winden, K.; Lazaro, M.; Haan, E.; Nelson, J.; McGaughran, J.; Nguyen, L.; Friend, K.; Hackett, A.; Field, M.; Gecz, J.; Geschwind, D.
2012New mutations and sporadic intellectual disabilityGecz, J.; Haan, E.
2010Disruption at the PTCHD1 locus on Xp22.11 in Autism Spectrum Disorder and intellectual disabilityGecz, J.