Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Brazane, M, Dimitrova, DG, Pigeon, J, Paolantoni, C, Ye, T, Marchand, V, Da Silva, B, Schaefer, E, Angelova, MT, Stark, Z, et al.
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance.
2023
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Milne, SC, Kim, SH, Murphy, A, Larkindale, J, Farmer, J, Malapira, R, Danoudis, M, Shaw, J, Ramakrishnan, T, Rasouli, F, et al.
The responsiveness of gait and balance outcomes to disease progression in Friedreich ataxia.
2023
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Tiller, J, Keogh, L, McInerney-Leo, A, Belcher, A, Barlow-Stewart, K, Boughtwood, T, Gleeson, P, Dowling, G, Prince, AER, Bombard, Y, et al.
A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium.
2023
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Ong, SY, Khoo, T, Nicoll, AJ, Gurrin, L, Worland, T, Pateria, P, Ramm, LE, Testro, A, Anderson, GJ, Skoien, R, et al.
Utility and limitations of Hepascore and transient elastography to detect advanced hepatic fibrosis in HFE hemochromatosis.
Scientific Reports
11(1)
:
14654
2023
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Joo, JE, Dowty, JG, Milne, RL, Wong, EM, Dugué, P-A, English, D, Hopper, JL, Goldgar, DE, Giles, GG, Southey, MC, et al.
Heritable DNA methylation marks associated with susceptibility to breast cancer.
Nature Communications
9(1)
:
867
2023
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