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Details

Role Clinical Geneticist
Group Clinical Services

Top Publications

  • Tiller, J, Morris, S, Rice, T, Barter, K, Riaz, M, Keogh, L, Delatycki, MB, Otlowski, M, Lacaze, P. Genetic discrimination by Australian insurance companies: a survey of consumer experiences. European Journal of Human Genetics 28(1) : 108 -113 2020
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  • Wallis, MJ, Boys, A, Tassano, E, Delatycki, MB. Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants. European Journal of Medical Genetics 63(1) : 103618 2020
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  • Lynch, DR, Chin, MP, Delatycki, M, Subramony, SH, Hoyle, JC, Boesch, S, Nachbauer, W, Mariotti, C, Mathews, KD, Giunti, P, et al. Safety and Efficacy of Omaveloxolone in Friedreich's Ataxia (MOXIe Study): A Multicentre, Randomised, Double-Blind, Placebo-Controlled Trial. 2020
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  • Tan, TY, Lunke, S, Chong, B, Phelan, D, Fanjul-Fernandez, M, Marum, JE, Kumar, VS, Stark, Z, Yeung, A, Brown, NJ, et al. A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis. European Journal of Human Genetics 27(12) : 1791 -1799 2019
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  • Rummey, C, Corben, LA, Delatycki, MB, Subramony, SH, Bushara, K, Gomez, CM, Hoyle, JC, Yoon, G, Ravina, B, Mathews, KD, et al. Psychometric properties of the Friedreich Ataxia Rating Scale. Neurology Genetics 5(6) : 371 2019
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