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

  • Source: Scopus
  • Calculated using citation counts from Scopus for publications in the UWA Profiles and Research Repository
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  • 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 others, Sébire, 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., 23 Jan 2021, In : The Journal of clinical endocrinology and metabolism. 106, 2, p. e660-e674

    Research output: Contribution to journalArticle

    Open Access
    4 Citations (Scopus)
  • Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families

    McKenzie, F., Mina, K., Callewaert, B., Beyens, A., Dickinson, J. E., Jevon, G., Papadimitriou, J., Diness, B. R., Steensberg, J. N., Ek, J. & Baynam, G., 18 Apr 2021, In : Clinical Genetics. 8 p.

    Research output: Contribution to journalArticle

  • A clinical scoring system for congenital contractural arachnodactyly

    Meerschaut, I., De Coninck, S., Steyaert, W., Barnicoat, A., Bayat, A., Benedicenti, F., Berland, S., Blair, E. M., Breckpot, J., de Burca, A., Destrée, A., García-Miñaúr, S., Green, A. J., Hanna, B. C., Keymolen, K., Koopmans, M., Lederer, D., Lees, M., Longman, C., Lynch, S. A. & 23 others, Male, A. M., McKenzie, F., Migeotte, I., Mihci, E., Nur, B., Petit, F., Piard, J., Plasschaert, F. S., Rauch, A., Ribaï, P., Pacheco, I. S., Stanzial, F., Stolte-Dijkstra, I., Valenzuela, I., Varghese, V., Vasudevan, P. C., Wakeling, E., Wallgren-Pettersson, C., Coucke, P., De Paepe, A., De Wolf, D., Symoens, S. & Callewaert, B., 1 Jan 2020, In : Genetics in Medicine. 22, 1, p. 124-131

    Research output: Contribution to journalArticle

    5 Citations (Scopus)
  • A flexible computational pipeline for research analyses of unsolved clinical exome cases

    Lassmann, T., Francis, R. W., Weeks, A., Tang, D., Jamieson, S. E., Broley, S., Dawkins, H. J. S., Dreyer, L., Goldblatt, J., Groza, T., Kamien, B., Kiraly-Borri, C., McKenzie, F., Murphy, L., Pachter, N., Pathak, G., Poulton, C., Samanek, A., Skoss, R., Slee, J. & 4 others, Townshend, S., Ward, M., Baynam, G. S. & Blackwell, J. M., Dec 2020, In : npj Genomic Medicine. 5, 1, 54.

    Research output: Contribution to journalArticle

    Open Access
  • EXOME REPORT: Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion

    Carroll, R., Shaw, M., Arvio, M., Gardner, A., Kumar, R., Hodgson, B., Heron, S., McKenzie, F., Järvelä, I. & Gecz, J., Oct 2020, In : European Journal of Medical Genetics. 63, 10, 104010.

    Research output: Contribution to journalArticle

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