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Frontiers in Molecular Neuroscience
Kalscheuer, V.M. and James, V.M. and Himelright, M.L. and Long, P. and Oegema, R. and Jensen, C. and Bienek, M. and Hu, H. and Haas, S.A. and Topf, Maya and Hoogeboom, A.J.M. and Harvey, K. and Walikonis, R. and Harvey, R.J. (2016) Novel Missense Mutation A789V in IQSEC2 underlies X-Linked intellectual disability in the MRX78 family. Frontiers in Molecular Neuroscience 8 , ISSN 1662-5099.
Human Molecular Genetics
Kumar, R.A. and Pilz, D.T. and Babatz, T.D. and Cushion, T.D. and Harvey, K. and Topf, Maya and Yates, L. and Robb, S. and Uyanik, G. and Mancini, G.M.S. and Rees, M.I. and Harvey, R.J. and Dobyns, W.B. (2010) TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Human Molecular Genetics 19 (14), pp. 2817-2827. ISSN 0964-6906.
Neurobiology of Disease
James, Victoria M. and Bode, A. and Chung, S.-K. and Gill, J.L. and Nielsen, M. and Cowan, Frances M. and Vujic, M. and Thomas, R.H. and Rees, M.I. and Harvey, K. and Keramidas, A. and Topf, Maya and Ginjaar, I. and Lynch, J.W. and Harvey, R.J. (2013) Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease. Neurobiology of Disease 52 , pp. 137-149. ISSN 0969-9961.
The Journal of Neuroscience
Harvey, K. and Duguid, I.C. and Alldred, M.J. and Beatty, S.E. and Ward, H. and Keep, Nicholas H. and Lingenfelter, S.E. and Pearce, B.R. and Lundgren, J.D. and Owens, Max J. and Smart, T.G. and Luscher, B. and Rees, M.I. and Harvey, R.J. (2004) The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. The Journal of Neuroscience 24 (25), pp. 5816-5826. ISSN 0270-6474.
Trends in Genetics
Harvey, R.J. and Topf, Maya and Harvey, K. and Rees, M.I. (2008) The genetics of hyperekplexia: more than startle! Trends in Genetics 24 (9), pp. 439-447. ISSN 0168-9525.