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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

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
File

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

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 othersWebb, 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

Severe connective tissue laxity including aortic dilatation in Sotos syndrome

Hood, R. L., Mcgillivray, G., Hunter, M. F., Roberston, S. P., Bulman, D., Boycott, K., Stark, Z., Boycott, K., MacKenzie, A., Majewski, J., Brudno, M., Bulman, D., Dyment, D. & Care4Rare Canada Consortium, 1 Feb 2016, In : American Journal of Medical Genetics, Part A. 170, 2, p. 531-535 5 p.

Research output: Contribution to journalLetterResearchpeer-review

THOC2 mutations implicate mRNA-Export pathway in X-Linked intellectual disability

Kumar Sharma, R., Corbett, M. A., Van Bon, B. W. M., Woenig, J. A., Weir, L., Douglas, E., Friend, K. L., Gardner, A., Shaw, M., Jolly, L. A., Tan, C., Hunter, M., Hackett, A. K., Field, M., Palmer, E. E., Leffler, M., Rogers, C. J., Boyle, J., Bienek, M., Jensen, C. & 11 othersVan Buggenhout, G., Van Esch, H., Hoffmann, K., Raynaud, M., Zhao, H., Reed, R., Hu, H., Haas, S. A., Haan, E., Kalscheuer, V. M. & Gecz, J., 2015, In : American Journal of Human Genetics. 97, p. 302 - 310 9 p.

Research output: Contribution to journalArticleResearchpeer-review