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Fiona McKenzie

Dr

  • The University of Western Australia (M561), 35 Stirling Highway,

    6009 Perth

    Australia

  • 374 Bagot Rd, L4 Agnes Walsh House

    6008 Subiaco

    Australia

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Personal profile

Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being

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Collaborations and top research areas from the last five years

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  • 33 Article
  • 1 Chapter
  • 1 Abstract/Meeting Abstract
  • 1 Review article

  • Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders

    Batkovskyte, D., McKenzie, F., Taylan, F., Simsek-Kiper, P. O., Nikkel, S. M., Ohashi, H., Stevenson, R. E., Ha, T., Cavalcanti, D. P., Miyahara, H., Skinner, S. A., Aguirre, M. A., Akçören, Z., Utine, G. E., Chiu, T., Shimizu, K., Hammarsjö, A., Boduroglu, K., Moore, H. W., Louie, R. J., & 12 othersArts, P., Merrihew, A. N., Babic, M., Jackson, M. R., Papadogiannakis, N., Lindstrand, A., Nordgren, A., Barnett, C. P., Scott, H. S., Chagin, A. S., Nishimura, G. & Grigelioniene, G., May 2023, In: Journal of Bone and Mineral Research. 38, 5, p. 692-706 15 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    1 Citation (Scopus)

  • Australian guidelines for the management of children with achondroplasia

    Tofts, L. J., Armstrong, J. A., Broley, S., Carroll, T., Ireland, P. J., Koo, M., Langdon, K., McGregor, L., McKenzie, F., Mehta, D., Savarirayan, R., Tate, T., Wesley, A., Zankl, A., Jenner, M., Eyles, M. & Pacey, V., 1 Feb 2023, (E-pub ahead of print) In: Journal of Paediatrics and Child Health. 59, 2, p. 229-241 13 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders

    Batkovskyte, D., McKenzie, F., Taylan, F., Simsek-Kiper, P. O., Nikkel, S. M., Ohashi, H., Miyahara, H., Eriksson, G., Ha, T., Utine, G. E., Chiu, T., Shimizu, K., Hammarsjo, A., Boduroglu, K., Arts, P., Babic, M., Jackson, M. R., Papadogiannakis, N., Lindstrand, A., Nordgren, A., & 5 othersBarnett, C. P., Scott, H. S., Chagin, A. S., Nishimura, G. & Grigelioniene, G., Apr 2022, In: European Journal of Human Genetics. 30, SUPPL 1, p. 41-42 2 p.

    Research output: Contribution to journal › Abstract/Meeting Abstract › peer-review

  • Studying Disease-Associated UBE3A Missense Variants Using Enhanced Sampling Molecular Simulations

    Agostino, M., McKenzie, F., Buck, C., Woodward, K. J., Atkinson, V. J., Azmanov, D. N. & Heng, J. I-T., 26 Jul 2022, In: ACS Omega. 7, 29, p. 25039-25045 7 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

    Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M., & 99 othersSébire, G., Lourenço, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Strømme, P., de Grauw, T., Gieruszczak-Bialek, D., Krägeloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., McClintock, W., McEntagart, M., McKenzie, F., Melançon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Özkınay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sønderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L., Tibussek, D., Timmann, D., Tonduti, D., van de Warrenburg, B. P., Vázquez-López, M., Venkateswaran, S., Wasling, P., Wassmer, E., Webster, R. I., Wiegand, G., Yoon, G., Rotteveel, J., Schiffmann, R., van der Knaap, M. S., Vanderver, A., Martos-Moreno, G., Polychronakos, C., Wolf, N. I. & Bernard, G., 1 Feb 2021, In: The Journal of clinical endocrinology and metabolism. 106, 2, p. e660-e674

    Research output: Contribution to journal › Article › peer-review

    Open Access
    19 Citations (Scopus)
View all 36 research outputs