Fiona McKenzie

Dr

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

    6009 Perth

    Australia

  • 916 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

  • 916 Citations
  • 13 h-Index
  • 24 Article
  • 1 Chapter
2 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
5 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
2 Citations (Scopus)

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

C4RCD Research Group & DDD study, 1 Nov 2018, In : American Journal of Medical Genetics, Part A. 176, 11, p. 2259-2275 17 p.

Research output: Contribution to journalArticle

Phenotype
Mutation
Cutaneous Mastocytosis
Mosaicism
Dystonia