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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.
2019A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylationKhayat, W.; Hackett, A.; Shaw, M.; Ilie, A.; Dudding-Byth, T.; Kalscheuer, V.M.; Christie, L.; Corbett, M.A.; Juusola, J.; Friend, K.L.; Kirmse, B.M.; Gecz, J.; Field, M.; Orlowski, J.
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.
2006Nance-Horan syndrome protein, NHS, associates with epithelial cell junctionsSharma, S.; Ang, S.; Shaw, M.; Mackey, D.; Gecz, J.; McAvoy, J.; Craig, J.
2003Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardationBurdon, K.; McKay, J.; Sale, M.; Russell-Eggitt, I.; Mackey, D.; Wirth, G.; Elder, J.; Nicoll, A.; Clarke, M.; FitzGerald, L.; Stankovich, J.; Shaw, M.; Sharma, S.; Gajovic, S.; Gruss, P.; Ross, S.; Thomas, P.; Voss, A.; Thomas, T.; Gecz, J.; et al.
2002Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyStromme, P.; Mangelsdorf, M.; Shaw, M.; Lower, K.; Lewis, S.; Bruyere, H.; Lutcherath, V.; Gedeon, A.; Wallace, R.; Scheffer, I.; Turner, G.; Partington, M.; Frints, S.; Fryns, J.; Sutherland, G.; Mulley, J.; Gecz, J.

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