Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Crombie, DE, Van Bergen, N, Davidson, KC, Virmouni, SA, Mckelvie, PA, Chrysostomou, V, Conquest, A, Corben, LA, Pook, MA, Kulkarni, T, et al.
Characterization of the retinal pigment epithelium in Friedreich ataxia.
Biochemistry and Biophysics Reports
4:
141 -147
2015
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Lowe, GC, Corben, LA, Duncan, RE, Yoon, G, Delatycki, MB.
“Both Sides of the Wheelchair”: The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre‐symptomatic Testing of Minors.
Journal of Genetic Counseling
24(5)
:
732 -743
2015
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Marsh, APL, Lukic, V, Pope, K, Bromhead, C, Tankard, R, Ryan, MM, Yiu, EM, Sim, JCH, Delatycki, MB, Amor, DJ, et al.
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.
Neurology Genetics
1(2)
:
&na
2015
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Ong, SY, Dolling, L, Dixon, JL, Nicoll, AJ, Gurrin, LC, Wolthuizen, M, Wood, EM, Anderson, GJ, Ramm, GA, Allen, KJ, et al.
Should HFE p.C282Y homozygotes with moderately elevated serum ferritin be treated? A randomised controlled trial comparing iron reduction with sham treatment (Mi-iron).
BMJ Open
5(8)
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e008938
2015
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Majumdar, A, Delatycki, MB, Crowley, P, Lokan, J, Tharian, B, Angus, PW, Gow, P.
An autosomal dominant form of non-cirrhotic portal hypertension.
Journal of Hepatology
63(2)
:
525 -527
2015
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