Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Scerri, T, Riseley, JR, Gillies, G, Pope, K, Burgess, R, Mandelstam, SA, Dibbens, L, Chow, CW, Maixner, W, Harvey, AS, et al.
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.
Annals of Clinical and Translational Neurology
2(5)
:
575 -580
2015
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Evans-Galea, MV, HweeOng, S, Zhang, D, Burton, M, Sim, CH, Phelan, D, Stephenson, SEM, Wilson, GR, Newgreen, DF, Lockhart, PJ, et al.
395. Developing Bone Marrow Transplant and Lentiviral Vectors for Friedreich Ataxia.
Molecular Therapy
23:
s157
2015
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Tai, G, Yiu, EM, Corben, LA, Delatycki, MB.
A longitudinal study of the Friedreich Ataxia Impact Scale.
Journal of the Neurological Sciences
352(1-2)
:
53 -57
2015
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Yiu, EM, Tai, G, Peverill, RE, Lee, KJ, Croft, KD, Mori, TA, Scheiber-Mojdehkar, B, Sturm, B, Praschberger, M, Vogel, AP, et al.
An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels.
Journal of Neurology
262(5)
:
1344 -1353
2015
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Zaloumis, SG, Allen, KJ, Bertalli, NA, Turkovic, L, Delatycki, MB, Nicoll, AJ, McLaren, CE, English, DR, Hopper, JL, Giles, GG, et al.
HFE C282Y and H63D simple heterozygosity.
Journal of Gastroenterology and Hepatology
30(4)
:
719 -725
2015
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