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Details

Role Clinical Geneticist
Group Clinical Services

Top Publications

  • Selvadurai, LP, Georgiou-Karistianis, N, Shishegar, R, Sheridan, C, Egan, GF, Delatycki, MB, Harding, IH, Corben, LA. Longitudinal structural brain changes in Friedreich ataxia depend on disease severity: the IMAGE-FRDA study. Journal of Neurology 268(11) : 4178 -4189 2021
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  • Dow, E, Freimund, A, Smith, K, Hicks, RJ, Jurcevic, P, Shackleton, M, James, PA, Fellowes, A, Delatycki, MB, Fawcett, S, et al. Cancer Diagnoses Following Abnormal Noninvasive Prenatal Testing: A Case Series, Literature Review, and Proposed Management Model. JCO Precision Oncology 5(5) : 1001 -1012 2021
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  • Park, HA, Neumeyer, S, Michailidou, K, Bolla, MK, Wang, Q, Dennis, J, Ahearn, TU, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, et al. Mendelian randomisation study of smoking exposure in relation to breast cancer risk. British Journal of Cancer 125(8) : 1135 -1145 2021
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  • Stutterd, CA, Kidd, A, Florkowski, C, Janus, E, Fanjul, M, Raizis, A, Wu, TY, Archer, J, Leventer, RJ, Amor, DJ, et al. Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations. American Journal of Medical Genetics Part A 185(10) : 2941 -2950 2021
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  • Harding, IH, Chopra, S, Arrigoni, F, Boesch, S, Brunetti, A, Cocozza, S, Corben, LA, Deistung, A, Delatycki, M, Diciotti, S, et al. Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA‚ÄźAtaxia Working Group. Annals of Neurology 90(4) : 570 -583 2021
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