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Details

Role Clinical Geneticist
Group Clinical Services

Top Publications

  • Paznekas, WA, Karczeski, B, Vermeer, S, Lowry, RB, Delatycki, M, Laurence, F, Koivisto, PA, Van Maldergem, L, Boyadjiev, SA, Bodurtha, JN, et al. GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Human Mutation 30(5) : 724 -733 2009
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  • Delatycki, MB. Evaluating the progression of Friedreich ataxia and its treatment. Journal of Neurology 256(Suppl 1) : 36 2009
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  • Taylor, JM, Wu, R-M, Lin, C-H, Delatycki, MB, Lockhart, PJ. Lack of evidence for association of a parkin promoter polymorphism with early-onset Parkinson's disease in a Chinese population. Parkinsonism & Related Disorders 15(2) : 149 -152 2009
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  • Bruno, DL, Ganesamoorthy, D, Schoumans, J, Bankier, A, Coman, D, Delatycki, M, Gardner, RJM, Hunter, M, James, PA, Kannu, P, et al. Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice. Journal of Medical Genetics 46(2) : 123 2009
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  • Tassicker, RJ, Teltscher, B, Trembath, MK, Collins, V, Sheffield, LJ, Chiu, E, Gurrin, L, Delatycki, MB. Problems assessing uptake of Huntington disease predictive testing and a proposed solution. European Journal of Human Genetics 17(1) : 66 -70 2009
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