Details

Role Group Leader / Honorary Fellow Manager

Research area Genomic Medicine

Group Molecular Therapies

Top Publications

Ahimastos, AA, Aggarwal, A, Savarirayan, R, Dart, AM, Kingwell, BA. A role for plasma transforming growth factor-β and matrix metalloproteinases in aortic aneurysm surveillance in Marfan syndrome?. Atherosclerosis 209(1) : 211 -214 2010
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Wincent, J, Bruno, DL, van Bon, BWM, Bremer, A, Stewart, H, Bongers, EMHF, Ockeloen, CW, Willemsen, MH, Keays, DAD, Baird, G, et al. Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications. Molecular Syndromology 1(5) : 246 -254 2010
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Dimasi, DP, Chen, JY, Hewitt, AW, Klebe, S, Davey, R, Stirling, J, Thompson, E, Forbes, R, Tan, TY, Savarirayan, R, et al. Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes. Human Genetics 127(1) : 33 2010
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Ireland, PJ, Johnson, S, Donaghey, S, Johnston, L, McGill, J, Zankl, A, Ware, RS, Pacey, V, Ault, J, Savarirayan, R, et al. Developmental Milestones in Infants and Young Australasian Children With Achondroplasia. Journal of Developmental and Behavioral Pediatrics 31(1) : 41 -47 2010
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Perdu, B, de Freitas, F, Frints, SG, Schouten, M, Schrander‐Stumpel, C, Barbosa, M, Pinto‐Basto, J, Reis‐Lima, M, de Vernejoul, M, Becker, K, et al. Osteopathia striata with cranial sclerosis owing to WTX gene defect. Journal of Bone and Mineral Research 25(1) : 82 -90 2010
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