20092019

Research output per year

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Personal profile

External positions

Head of Department, General Genetics, Monash Health

Mar 2014 → …

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Research Output

Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome

Baker, E. K., Arpone, M., Vera, S. A., Bretherton, L., Ure, A., Kraan, C. M., Bui, M., Ling, L., Francis, D., Hunter, M. F., Elliott, J., Rogers, C., Field, M. J., Cohen, J., Maria, L. S., Faundes, V., Curotto, B., Morales, P., Trigo, C., Salas, I. & 3 others, Alliende, A. M., Amor, D. J. & Godler, D. E., 26 Dec 2019, In : Journal of Neurodevelopmental Disorders. 11, 1, 15 p., 41.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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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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3 Citations (Scopus)

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants [version 1; referees: 3 approved]

Tatton-Brown, K., Zachariou, A., Loveday, C., Renwick, A., Mahamdallie, S., Aksglaede, L., Baralle, D., Barge-Schaapveld, D., Blyth, M., Bouma, M., Breckpot, J., Crabb, B., Dabir, T., Cormier-Daire, V., Fauth, C., Fisher, R., Gener, B., Goudie, D., Homfray, T., Hunter, M. & 31 others, Jorgensen, A., Kant, S. G., Kirally-Borri, C., Koolen, D., Kumar, A., Labilloy, A., Lees, M., Marcelis, C., Mercer, C., Mignot, C., Miller, K., Neas, K., Newbury-Ecob, R., Pilz, D. T., Posmyk, R., Prada, C., Ramsey, K., Randolph, L. M., Selicorni, A., Shears, D., Suri, M., Temple, I. K., Turnpenny, P., Val Maldergem, L., Varghese, V., Veenstra-Knol, H. E., Yachelevich, N., Yates, L., Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study & Rahman, N., 1 Jan 2018, In : Wellcome Open Research. 3, 17 p., 46.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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20 Citations (Scopus)

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
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