• The University of Western Australia (M409), 35 Stirling Highway,

    6009 Perth

    Australia

  • 0 Citations
  • 0 h-Index
20042019

Research output per year

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Research Output

Open Access
  • Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

    LifeLines Cohort Study, 1 Dec 2018, In : Nature Communications. 9, 1, 4455.

    The University of Western Australia

    Research output: Contribution to journalArticleResearchpeer-review

    Open Access
  • Improved diagnosis and care for rare diseases through implementation of precision public health framework

    Baynam, G., Bowman, F., Lister, K., Walker, C. E., Pachter, N., Boycott, K. M., Gahl, W. A., Kosaki, K., Adachi, T., Ishii, K., Mahede, T., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L., Verhoef, H. & 36 others, Groza, T., Zankl, A., Robinson, P. N., Haendel, M., Brudno, M., Mattick, J. S., Dinger, M. E., Roscioli, T., Cowley, M. J., Olry, A., Hanauer, M., Alkuraya, F. S., Taruscio, D., Posada De La Paz, M., Lochmüller, H., Bushby, K., Thompson, R., Hedley, V., Lasko, P., Beilby, J., Tifft, C., Laing, N. G., Julkowska, D., Le Cam, Y., Terry, S. F., Kaufmann, P., Eerola, I., Norstedt, I., Rath, A., Suematsu, M., Groft, S. C., Austin, C. P., Draghia-Akli, R., Weeramanthri, T. S., Molster, C. & Dawkins, H. J. S., 2017, Rare Diseases Epidemiology: Update and Overview. Posada de la Paz, M., Taruscio, D. & Groft, S. C. (eds.). 2nd ed. Switzerland: Springer, p. 55-94 40 p. (Advances in Experimental Medicine and Biology; vol. 1031).

    The University of Western Australia

    Research output: Chapter in Book/Report/Conference proceedingChapterResearch

  • Initiating an undiagnosed diseases program in the Western Australian public health system

    Baynam, G., Broley, S., Bauskis, A., Pachter, N., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Schofield, L., Helmholz, P., Palmer, R., Kung, S., Walker, C. E., Molster, C., Lewis, B., Beilby, J., Pathak, G., Poulton, C. & 21 others, Groza, T., Zankl, A., Roscioli, T., Dinger, M. E., Mattick, J. S., Gahl, W., Groft, S., Tifft, C., Taruscio, D., Lasko, P., Kosaki, K., Wilhelm, H., Melegh, B., Carapetis, J., Jana, S., Chaney, G., Johns, A., Owen, P. W., Daly, F., Weeramanthri, T. & Dawkins, H., 3 May 2017, In : Orphanet Journal of Rare Diseases. 12, 1, 83.

    The University of Western Australia

    Research output: Contribution to journalArticleResearchpeer-review

    Open Access
  • Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

    ICBP Consortium, AGEN Consortium, CARDIOGRAM, CHARGe-Heart Failure Group & ECHOGen Consortium, 21 Jan 2016, In : Nature Communications. 7, 19 p., 10023.

    The University of Western Australia

    Research output: Contribution to journalArticleResearchpeer-review

    Open Access