20092018
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Personal profile

External positions

Head of Department, General Genetics, Monash Health

Mar 2014 → …

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Research Output 2009 2018

2 Citations (Scopus)

Pitfalls of immunotherapy: Lessons from a patient with CTLA-4 haploinsufficiency 11 Medical and Health Sciences 1107 Immunology

Watson, L. R., Slade, C. A., Ojaimi, S., Barnes, S., Fedele, P., Smith, P., Marum, J., Lunke, S., Stark, Z., Hunter, M. F., Bryant, V. L. & Low, M. S. Y., 22 Oct 2018, In : Allergy, Asthma and Clinical Immunology. 14, 1, 5 p., 65.

Research output: Contribution to journalArticleOtherpeer-review

Open Access
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2 Citations (Scopus)

Prenatal diagnosis of fragile X syndrome in a twin pregnancy complicated by a complete retraction

Prawer, Y., Hunter, M., Cronin, S., Ling, L., Vera, S. A., Fahey, M., Gelfand, N., Oertel, R., Bartlett, E., Francis, D. & Godler, D., 7 Jun 2018, In : Genes. 9, 6, 11 p., 287.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch

Ibrahim, M., Hunter, M., Gugasyan, L., Chan, Y., Malhotra, A., Seghal, A. & Tan, K., Feb 2017, In : Clinical Case Reports. 5, 2, p. 164-169 6 p.

Research output: Contribution to journalArticleOtherpeer-review

Open Access
File
71 Citations (Scopus)

Disorders of sex development: Insights from targeted gene sequencing of a large international patient cohort

Eggers, S., Sadedin, S., van den Bergen, J. A., Robevska, G., Ohnesorg, T., Hewitt, J., Lambeth, L., Bouty, A., Knarston, I. M., Tan, T. Y., Cameron, F., Werther, G., Hutson, J., O'Connell, M., Grover, S. R., Heloury, Y., Zacharin, M., Bergman, P., Kimber, C., Brown, J. & 7 others, Webb, N., Hunter, M. F., Lafferty, A. R., Harley, V., Koopman, P., Ayers, K. L. & Sinclair, A. H., 29 Nov 2016, In : Genome Biology. 17, 1, 21 p., 243.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
File
11 Citations (Scopus)

Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report

Hwang, Y. T., Aliaga, S. M., Arpone, M., Francis, D., Li, X., Chong, B., Slater, H. R., Rogers, C., Bretherton, L., Hunter, M., Heard, R. & Godler, D. E., 1 Dec 2016, In : American Journal of Medical Genetics Part A. 170, 12, p. 3327-3332 6 p.

Research output: Contribution to journalArticleOtherpeer-review