Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Rafehi, H, Read, J, Szmulewicz, DJ, Davies, KC, Snell, P, Fearnley, LG, Scott, L, Thomsen, M, Gillies, G, Pope, K, et al.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
American Journal of Human Genetics
110(6)
:
1018
2023
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Tiller, J, Bakshi, A, Dowling, G, Keogh, L, McInerney-Leo, A, Barlow-Stewart, K, Boughtwood, T, Gleeson, P, Delatycki, MB, Winship, I, et al.
Correction: Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing.
European Journal of Human Genetics
1 -1
2023
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Tiller, J, Bakshi, A, Dowling, G, Keogh, L, McInerney-Leo, A, Barlow-Stewart, K, Boughtwood, T, Gleeson, P, Delatycki, MB, Winship, I, et al.
Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing.
European Journal of Human Genetics
1 -9
2023
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Wang, T, Kiss, D, McFadden, K, Byrnes, J, Scuffham, P, Delatycki, MB, Downes, M.
Clinical utility of reproductive carrier screening for preconception and pregnant couples for multiple genetic conditions: a systematic review and meta-analysis.
Expert Review of Molecular Diagnostics
23(5)
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419 -429
2023
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Freeman, L, Delatycki, MB, Scully, JL, Briggs, N, Kirk, EP.
Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening.
European Journal of Human Genetics
31(5)
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548 -554
2023
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