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PreviewIssue DateTitleAuthor(s)
2001Impaired thrombin generation in b2-glycoprotein I null miceSheng, Y.; Reddel, S.; Herzog, H.; Wang, Y.; Brighton, T.; France, M.; Robertson, S.; Krilis, S.
2013A novel prion disease associated with diarrhea and autonomic neuropathyMead, S.; Gandhi, S.; Beck, J.; Caine, D.; Gallujipali, D.; Carswell, C.; Hyare, H.; Joiner, S.; Ayling, H.; Lashley, T.; Linehan, J.M.; Al-Doujaily, H.; Sharps, B.; Revesz, T.; Sandberg, M.K.; Reilly, M.M.; Koltzenburg, M.; Forbes, A.; Rudge, P.; Brandner, S.; et al.
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.
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.
2018Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypesChong, C.-E.; Venugopal, P.; Stokes, P.; Lee, Y.; Brautigan, P.; Yeung, D.; Babic, M.; Engler, G.; Lane, S.; Klingler-Hoffmann, M.; Matthews, J.; D'Andrea, R.; Brown, A.; Hahn, C.; Scott, 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.

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