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PreviewIssue DateTitleAuthor(s)
2014Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthHoman, C.; Kumar, R.; Nguyen, L.; Haan, E.; Raymond, F.; Abidi, F.; Raynaud, M.; Schwartz, C.; Wood, S.; Gecz, J.; Jolly, L.
2004LGI1 mutations in temporal lobe epilepsiesBerkovic, S.; Izzillo, P.; McMahon, J.; Harkin, L.; McIntosh, A.; Phillips, H.; Briellmann, R.; Wallace, R.; Mazarib, A.; Neufeld, M.; Korczyn, A.; Scheffer, I.; Mulley, J.
2006Inhibition of glycosaminoglycan synthesis using rhodamine B in a mouse model of mucopolysaccharidosis type IIIADerrick Roberts, A.; Thomas, B.; Wilkinson, A.; Fletcher, J.; Byers, S.
2016Quantification of heterogeneity in lung disease with image-based pulmonary function testingStahr, C.; Samarage, C.; Donnelley, M.; Farrow, N.; Morgan, K.; Zosky, G.; Boucher, R.; Siu, K.; Mall, M.; Parsons, D.; Dubsky, S.; Fouras, A.
1996Characterization and chromosomal localization of the human A2a adenosine receptor gene - ADORA2ALe, F.; Townsend-Nicholson, A.; Baker, E.; Sutherland, G.; Schofield, P.
2018Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderFrints, S.G.M.; Ozanturk, A.; Rodríguez Criado, G.; Grasshoff, U.; de Hoon, B.; Field, M.; Manouvrier-Hanu, S.; E Hickey, S.; Kammoun, M.; Gripp, K.W.; Bauer, C.; Schroeder, C.; Toutain, A.; Mihalic Mosher, T.; Kelly, B.J.; White, P.; Dufke, A.; Rentmeester, E.; Moon, S.; Koboldt, D.C.; et al.
2006Wound healing is defective in mice lacking tetraspanin CD151Cowin, A.; Adams, D.; Geary, S.; Wright, M.; Jones, J.; Ashman, L.
1997Assignment of the Y-4 Receptor Gene (PPYR1) to Human Chromosome 10q11.2 and Mouse Chromosome 14Darby, K.; Eyre, H.; Lapsys, N.; Copeland, N.; Gilbert, D.; Couzens, M.; Antonova, O.; Sutherland, G.; Jenkins, N.; Herzog, H.
2017Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesisHinze, S.; Jackson, M.; Lie, S.; Jolly, L.; Field, M.; Barry, S.; Harvey, R.; Shoubridge, C.
2001TTYH2, a human homologue of the Drosophila melanogaster gene tweety, is located on 17q24 and upregulated in renal cell carcinomaRae, F.; Hooper, J.; Eyre, H.; Sutherland, G.; Nicol, D.; Clements, J.