Fiona McKenzie

Dr

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

    6009 Perth

    Australia

  • 939 Citations
  • 13 h-Index
20022019
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  • 4 Similar Profiles
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Congenital Disorders of Glycosylation Medicine & Life Sciences
Rare Diseases Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Siblings Medicine & Life Sciences
Micrognathism Medicine & Life Sciences

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Research Output 2002 2019

  • 939 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 othersMale, 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 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticle

Arachnodactyly
Marfan Syndrome
Genetic Testing
Contracture
Connective Tissue
3 Citations (Scopus)

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 othersMcKenzie, F. & Heng, J. I. T., Feb 2019, In : Molecular genetics & genomic medicine. 7, 2, 17 p., 507.

Research output: Contribution to journalArticle

Open Access
2 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

5 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 othersMarcelis, 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

Haploinsufficiency
Intellectual Disability
Genotype
Phenotype
Mutation
6 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 othersSavarirayan, 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
Ectodermal Dysplasia
Extremities
Mutation
Molecular Pathology
Genetic Testing