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Details

Role Team Leader / Senior Research Officer
Research area Clinical Sciences

Top Publications

  • Amor, DJ, Stephenson, SEM, Mustapha, M, Mensah, MA, Ockeloen, CW, Lee, WS, Tankard, RM, Phelan, DG, Shinawi, M, de Brouwer, APM, et al. Pathogenic Variants in GPC4 Cause Keipert Syndrome. American Journal of Human Genetics 104(5) : 914 -924 2019
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  • Gao, Y, Wilson, GR, Stephenson, SEM, Bozaoglu, K, Farrer, MJ, Lockhart, PJ. The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease. Movement Disorders 33(2) : 196 -207 2018
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  • Stutterd, C, Diakumis, P, Bahlo, M, Fernandez, MF, Leventer, RJ, Delatycki, M, Amor, D, Chow, CW, Stephenson, S, Meisler, MH, et al. Neuropathology of childhood‐onset basal ganglia degeneration caused by mutation of VAC14. Annals of Clinical and Translational Neurology 4(12) : 859 -864 2017
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  • Knight*, KW, Stephenson*, SE, West*, S, Delatycki, MB, Jones, CA, Little, MH, Patton, GC, Sawyer, SM, Skinner, SR, Telfer, MM, et al. The kids are OK: it is discrimination not same‐sex parents that harms children. The Medical Journal of Australia 207(9) : 374 -375 2017
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  • Marsh, APL, Heron, D, Edwards, TJ, Quartier, A, Galea, C, Nava, C, Rastetter, A, Moutard, M-L, Anderson, V, Bitoun, P, et al. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nature Genetics 49(4) : 511 -514 2017
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