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Results 1-10 of 47 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2020A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networksDomingo, D.; Nawaz, U.; Corbett, M.; Espinoza, J.L.; Tatton-Brown, K.; Coman, D.; Wilkinson, M.F.; Gecz, J.; Jolly, L.A.
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.
2020A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsyKolc, K.L.; Sadleir, L.G.; Depienne, C.; Marini, C.; Scheffer, I.E.; Møller, R.S.; Trivisano, M.; Specchio, N.; Pham, D.; Kumar, R.; Roberts, R.; Gecz, J.
2020Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian familiesBennett, M.F.; Oliver, K.L.; Regan, B.M.; Bellows, S.T.; Schneider, A.L.; Rafehi, H.; Sikta, N.; Crompton, D.E.; Coleman, M.; Hildebrand, M.S.; Corbett, M.A.; Kroes, T.; Gecz, J.; Scheffer, I.E.; Berkovic, S.F.; Bahlo, M.
2018Common genetic variants contribute to risk of rare severe neurodevelopmental disordersNiemi, M.E.K.; Martin, H.C.; Rice, D.L.; Gallone, G.; Gordon, S.; Kelemen, M.; McAloney, K.; McRae, J.; Radford, E.J.; Yu, S.; Gecz, J.; Martin, N.G.; Wright, C.F.; Fitzpatrick, D.R.; Firth, H.V.; Hurles, M.E.; Barrett, J.C.
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.
2016Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidismHughes, J.; Aubert, M.; Heatlie, J.; Gardner, A.; Gecz, J.; Morgan, T.; Belsky, J.; Thomas, P.
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.
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.

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