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Details

Role Clinical Geneticist
Group Clinical Services

Top Publications

  • Freeman, L, Bristowe, L, Kirk, EP, Delatycki, MB, Scully, JL. Should genes for non‐syndromic hearing loss be included in reproductive genetic carrier screening: Views of people with a personal or family experience of deafness. Journal of Genetic Counseling 2023
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  • Morra, A, Schreurs, MAC, Andrulis, IL, Anton‐Culver, H, Augustinsson, A, Beckmann, MW, Behrens, S, Bojesen, SE, Bolla, MK, Brauch, H, et al. Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer‐specific survival. Cancer Medicine 12(15) : 16142 -16162 2023
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  • Crawford, DHG, Ramm, GA, Bridle, KR, Nicoll, AJ, Delatycki, MB, Olynyk, JK. Clinical practice guidelines on hemochromatosis: Asian Pacific Association for the Study of the Liver. Hepatology International 17(3) : 522 -541 2023
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  • Rance, G, Carew, P, Winata, L, Sale, P, Delatycki, M, Sly, D. Auditory neuropathy in mice and humans with Friedreich ataxia. Annals of Clinical and Translational Neurology 10(6) : 953 -963 2023
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  • Bouffler, SE, Lee, L, Lynch, F, Martyn, M, Lynch, E, Macciocca, I, Curnow, L, McCorkell, G, Lunke, S, Chong, B, et al. Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol. BMJ Open 13(6) : e072999 2023
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