Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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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)
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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)
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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)
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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)
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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‐Ataxia Working Group.
Annals of Neurology
90(4)
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570 -583
2021
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