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Details

Role Clinical Geneticist
Group Clinical Services

Top Publications

  • Corben, LA, Lynch, D, Pandolfo, M, Schulz, JB, Delatycki, MB. Consensus clinical management guidelines for Friedreich ataxia. Orphanet Journal of Rare Diseases 9(1) : 184 2014
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  • Hodgson, JM, Metcalfe, SA, Aitken, M, Donath, SM, Gaff, CL, Winship, IM, Delatycki, MB, Skene, LL, McClaren, BJ, Paul, JL, et al. Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention. BMC Medical Genomics 15(1) : 33 2014
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  • Massie, J, Ioannou, L, Delatycki, M. Prenatal and preconception population carrier screening for cystic fibrosis in Australia: Where are we up to?. Australian and New Zealand Journal of Obstetrics and Gynaecology 54(6) : 503 -509 2014
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  • Lessel, D, Vaz, B, Halder, S, Lockhart, PJ, Marinovic-Terzic, I, Lopez-Mosqueda, J, Philipp, M, Sim, JCH, Smith, KR, Oehler, J, et al. Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. Nature Genetics 46(11) : 1239 -1244 2014
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  • Pandolfo, M, Arpa, J, Delatycki, MB, Le Quan Sang, KH, Mariotti, C, Munnich, A, Sanz‐Gallego, I, Tai, G, Tarnopolsky, MA, Taroni, F, et al. Deferiprone in Friedreich ataxia: A 6‐Month randomized controlled trial. Annals of Neurology 76(4) : 509 -521 2014
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