Preparing Australia for Genomic Medicine - A proposal by the Australian Genomics Health Alliance

Filter
Review article

Search results

  • 2023

    Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

    Stark, Z., Boughtwood, T., Haas, M., Braithwaite, J., Gaff, C. L., Goranitis, I., Spurdle, A. B., Hansen, D. P., Hofmann, O., Laing, N., Metcalfe, S., Newson, A. J., Scott, H. S., Thorne, N., Ward, R. L., Dinger, M. E., Best, S., Long, J. C., Grimmond, S. M., Pearson, J., & 38 othersWaddell, N., Barnett, C. P., Cook, M., Field, M., Fielding, D., Fox, S. B., Gecz, J., Jaffe, A., Leventer, R. J., Lockhart, P. J., Lunke, S., Mallett, A. J., McGaughran, J., Mileshkin, L., Nones, K., Roscioli, T., Scheffer, I. E., Semsarian, C., Simons, C., Thomas, D. M., Thorburn, D. R., Tothill, R., White, D., Dunwoodie, S., Simpson, P. T., Phillips, P., Brion, M. J., Finlay, K., Quinn, M. CJ., Mattiske, T., Tudini, E., Boggs, K., Murray, S., Wells, K., Cannings, J., Sinclair, A. H., Christodoulou, J. & North, K. N., 2 Mar 2023, In: American Journal of Human Genetics. 110, 3, p. 419-426 8 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    4 Citations (Scopus)
  • 2022

    Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

    Tudini, E., Andrews, J., Lawrence, D. M., King-Smith, S. L., Baker, N., Baxter, L., Beilby, J., Bennetts, B., Beshay, V., Black, M., Boughtwood, T. F., Brion, K., Cheong, P. L., Christie, M., Christodoulou, J., Chong, B., Cox, K., Davis, M. R., Dejong, L., Dinger, M. E., & 49 othersDoig, K. D., Douglas, E., Dubowsky, A., Ellul, M., Fellowes, A., Fisk, K., Fortuno, C., Friend, K., Gallagher, R. L., Gao, S., Hackett, E., Hadler, J., Hipwell, M., Ho, G., Hollway, G., Hooper, A. J., Kassahn, K. S., Krishnaraj, R., Lau, C., Le, H., San Leong, H., Lundie, B., Lunke, S., Marty, A., McPhillips, M., Nguyen, L. T., Nones, K., Palmer, K., Pearson, J. V., Quinn, M. C. J., Rawlings, L. H., Sadedin, S., Sanchez, L., Schreiber, A. W., Sigalas, E., Simsek, A., Soubrier, J., Stark, Z., Thompson, B. A., U, J., Vakulin, C. G., Wells, A. V., Wise, C. A., Woods, R., Ziolkowski, A., Brion, M. J., Scott, H. S., Thorne, N. P. & Spurdle, A. B., 3 Nov 2022, In: American Journal of Human Genetics. 109, 11, p. 1960-1973 14 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    4 Citations (Scopus)
  • 2021

    Genetic neuromuscular disorders: what is the best that we can do?

    Laing, N. G., Ong, R. W. & Ravenscroft, G., Oct 2021, In: Neuromuscular Disorders. 31, 10, p. 1081-1089 9 p.

    Research output: Contribution to journalReview articlepeer-review

    3 Citations (Scopus)