• The University of Western Australia (M431), 35 Stirling Highway,

    6009 Perth

    Australia

  • 399 Citations
  • 12 h-Index
20062019
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Research Output 2006 2019

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Chapter
2017
6 Citations (Scopus)

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., Goldblatt, J., 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. & 39 othersVerhoef, H., 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., Mina, K., Beilby, J., Tifft, C., Davis, M., 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).

Research output: Chapter in Book/Conference paperChapter

Public health
Rare Diseases
Public Health
Health Policy
Health
2 Citations (Scopus)

Indigenous genetics and rare diseases: Harmony, diversity and equity

Baynam, G., Molster, C., Bauskis, A., Kowal, E., Savarirayan, R., Kelaher, M., Easteal, S., Massey, L., Garvey, G., Goldblatt, J., Pachter, N., Weeramanthri, T. S. & 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. 511-520 10 p. (Advances in Experimental Medicine and Biology; vol. 1031).

Research output: Chapter in Book/Conference paperChapter

Inborn Genetic Diseases
Rare Diseases
Genetic Services
Translational Medical Research
Public health