Details

Role Group Leader / Honorary Fellow Manager

Research area Genomic Medicine

Group Molecular Therapies

Top Publications

Jobling, R, D’Souza, R, Baker, N, Lara-Corrales, I, Mendoza-Londono, R, Dupuis, L, Savarirayan, R, Ala-Kokko, L, Kannu, P. The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations. Current Rheumatology Reports 16(1) : 394 2014
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Roscioli, T, Elakis, G, Cox, TC, Moon, DJ, Venselaar, H, Turner, AM, Le, T, Hackett, E, Haan, E, Colley, A, et al. Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients. American Journal of Medical Genetics Part C Seminars in Medical Genetics 163(4) : 259 -270 2013
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Miller, KA, Ah-Cann, CJ, Welfare, MF, Tan, TY, Pope, K, Caruana, G, Freckmann, M-L, Savarirayan, R, Bertram, JF, Dobbie, MS, et al. Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome. PLOS Genetics 9(8) : e1003746 2013
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Ireland, PJ, Ware, RS, Donaghey, S, McGill, J, Zankl, A, Pacey, V, Ault, J, Savarirayan, R, Sillence, D, Thompson, E, et al. Effect of stature in achondroplasia. Journal of Paediatrics and Child Health 49(2) : e122 -e127 2013
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Vance, CE, Desmond, M, Robinson, A, Johns, J, Zacharin, M, Savarirayan, R, König, K, Warrillow, S, Walker, SP. Pregnancy in a woman with proportionate (primordial) dwarfism: a case report and literature review. Obstetric Medicine 5(3) : 124 -129 2012
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