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Nicholas Pachter

Dr

  • The University of Western Australia (M503), 35 Stirling Highway,

    6009 Perth

    Australia

Calculated based on number of publications stored in Pure and citations from Scopus
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  • 2022

    Preparing the workforce for genomic medicine: International challenges and strategies

    Johnson, D. L., Korf, B. R., Ascurra, M., El-Kamah, G., Fieggen, K., de la Fuente, B., Mahmood, S., Rojas-Martinez, A., Montenegro-Garreaud, X., Moresco, A., Mountain, H., Pachter, N., Puri, R. D., Raggio, V., Thakur, N. & Vargas, R. P., 1 Jan 2022, Genomic Medicine Skills and Competencies. Academic Press, p. 131-139 9 p.

    Research output: Chapter in Book/Conference paper › Chapter › peer-review

    1 Citation (Scopus)
  • 2017

    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 others, Verhoef, 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 paper › Chapter › peer-review

    23 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 paper › Chapter › peer-review

    21 Citations (Scopus)