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Details

Role Clinical Geneticist
Group Clinical Services

Top Publications

  • Butcher, S, Smith, M, Woodcock, IR, Delatycki, M, Ryan, MM, Forbes, R. False Negative Carrier Screening in Spinal Muscular Atrophy. Journal of Child Neurology 35(4) : 274 -277 2020
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  • Xiong, E, Lynch, AE, Corben, LA, Delatycki, MB, Subramony, SH, Bushara, K, Gomez, CM, Hoyle, JC, Yoon, G, Ravina, B, et al. Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort. Journal of the Neurological Sciences 410: 116642 2020
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  • Delatycki, MB, Alkuraya, F, Archibald, A, Castellani, C, Cornel, M, Grody, WW, Henneman, L, Ioannides, AS, Kirk, E, Laing, N, et al. International perspectives on the implementation of reproductive carrier screening. Prenatal Diagnosis 40(3) : 301 -310 2020
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  • Koczkowska, M, Callens, T, Chen, Y, Gomes, A, Hicks, AD, Sharp, A, Johns, E, Uhas, KA, Armstrong, L, Bosanko, KA, et al. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Human Mutation 41(1) : 299 -315 2020
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  • Tiller, J, Morris, S, Rice, T, Barter, K, Riaz, M, Keogh, L, Delatycki, MB, Otlowski, M, Lacaze, P. Correction to: Genetic discrimination by Australian insurance companies: a survey of consumer experiences. European Journal of Human Genetics 28(1) : 137 -137 2020
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