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Details

Role Group Leader / Honorary Fellow Manager
Research area Genomic Medicine

Top Publications

  • Cotton, R, Axton, M, Bankier, A, Brais, B, Cavedon, L, du Sart, D, George, P, Goldgar, D, Harrison, T, Hibbert, M, et al. Suggested actions from the Melbourne HVP Information Seminar. 2024
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  • Cotton, R, Axton, M, Bankier, A, Brais, B, Cavedon, L, du Sart, D, George, P, Goldgar, D, Harrison, T, Hibbert, M, et al. Suggested actions from the Melbourne HVP Information Seminar. 2024
    view publication
  • Savarirayan, R, Tunkel, DE, Sterni, LM, Bober, MB, Cho, T-J, Goldberg, MJ, Hoover-Fong, J, Irving, M, Kamps, SE, Mackenzie, WG, et al. Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia. 2024
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  • Prickett, TCR, Espiner, EA, Irving, M, Bacino, C, Phillips, JA, Savarirayan, R, Day, JRS, Fisheleva, E, Larimore, K, Chan, ML, et al. Evidence of feedback regulation of C-type natriuretic peptide during Vosoritide therapy in Achondroplasia. Scientific Reports 11(1) : 24278 2024
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  • Luke, J, Dalach, P, Tuer, L, Savarirayan, R, Ferdinand, A, McGaughran, J, Kowal, E, Massey, L, Garvey, G, Dawkins, H, et al. Investigating equity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people. 2024
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