Fiona McKenzie

Dr

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

    6009 Perth

    Australia

  • 1023 Citations
  • 13 h-Index
20022020

Research output per year

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Research Output

  • 1023 Citations
  • 13 h-Index
  • 25 Article
  • 1 Chapter

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

  • Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

    Woodward, K. J., Stampalia, J., Vanyai, H., Rijhumal, H., Potts, K., Taylor, F., Peverall, J., Grumball, T., Sivamoorthy, S., Alinejad-Rokny, H., Wray, J., Whitehouse, A., Nagarajan, L., Scurlock, J., Afchani, S., Edwards, M., Murch, A., Beilby, J., Baynam, G., Kiraly-Borri, C. & 2 others, McKenzie, F. & Heng, J. I. T., Feb 2019, In : Molecular genetics & genomic medicine. 7, 2, 17 p., 507.

    Research output: Contribution to journalArticle

    Open Access
    4 Citations (Scopus)

    Readiness of clinical genetic healthcare professionals to provide genomic medicine: An Australian census

    Australian Genomics Workforce Educ, Apr 2019, In : Journal of Genetic Counseling. 28, 2, p. 367-377 11 p.

    Research output: Contribution to journalArticle

    4 Citations (Scopus)

    A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

    Jansen, S., Hoischen, A., Coe, B. P., Carvill, G. L., van Esch, H., Bosch, D. G. M., Andersen, U. A., Baker, C., Bauters, M., Bernier, R. A., van Bon, B. W., Claahsen-van der Grinten, H. L., Gecz, J., Gilissen, C., Grillo, L., Hackett, A., Kleefstra, T., Koolen, D., Kvarnung, M., Larsen, M. J. & 21 others, Marcelis, C., McKenzie, F., Monin, M. L., Nava, C., Schuurs-Hoeijmakers, J. H., Pfundt, R., Steehouwer, M., Stevens, S. J. C., Stumpel, C. T., Vansenne, F., Vinci, M., van de Vorst, M., Vries, P. D., Witherspoon, K., Veltman, J. A., Brunner, H. G., Mefford, H. C., Romano, C., Vissers, L. E. L. M., Eichler, E. E. & de Vries, B. B. A., Jan 2018, In : European Journal of Human Genetics. 26, 1, p. 54-63 10 p.

    Research output: Contribution to journalArticle

  • 9 Citations (Scopus)

    Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

    Meester, J. A. N., Sukalo, M., Schröder, K. C., Schanze, D., Baynam, G., Borck, G., Bramswig, N. C., Duman, D., Gilbert-Dussardier, B., Holder-Espinasse, M., Itin, P., Johnson, D. S., Joss, S., Koillinen, H., McKenzie, F., Morton, J., Nelle, H., Reardon, W., Roll, C., Salih, M. A. & 16 others, Savarirayan, R., Scurr, I., Splitt, M., Thompson, E., Titheradge, H., Travers, C. P., Van Maldergem, L., Whiteford, M., Wieczorek, D., Vandeweyer, G., Trembath, R., Van Laer, L., Loeys, B. L., Zenker, M., Southgate, L. & Wuyts, W., 1 Sep 2018, In : Human Mutation. 39, 9, p. 1246-1261 16 p.

    Research output: Contribution to journalArticle

    Open Access
  • 11 Citations (Scopus)