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 based on number of publications stored in Pure and citations from Scopus
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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 journalArticlepeer-review

    Open Access
    9 Citations (Scopus)
  • Pseudoxanthoma elasticum presenting in teenage sisters: Case report and review of multisystem associations

    Hillan, A., Convery-Chan, L., Beer, T., McKenzie, F. & Ricciardo, B., 2021, In: European Journal of Pediatric Dermatology. 31, 3, p. 155-160 6 p.

    Research output: Contribution to journalReview articlepeer-review

  • 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., Aug 2021, In: Clinical Genetics. 100, 2, p. 168-175 8 p.

    Research output: Contribution to journalArticlepeer-review

  • 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 journalArticlepeer-review

    10 Citations (Web of Science)
  • 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 journalArticlepeer-review

    Open Access
    1 Citation (Scopus)