Details

Role Group Leader / Honorary Fellow Manager

Research area Genomic Medicine

Group Molecular Therapies

Top Publications

Baynam, G, Molster, C, Bauskis, A, Kowal, E, Savarirayan, R, Kelaher, M, Easteal, S, Massey, L, Garvey, G, Goldblatt, J, et al. Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity. 1031: 511 -520 2017
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Stark, Z, Tan, TY, Chong, B, Brett, GR, Yap, P, Walsh, M, Yeung, A, Peters, H, Mordaunt, D, Cowie, S, et al. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genetics in Medicine 18(11) : 1090 -1096 2016
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Crawford, A, Moore, L, Bennett, G, Savarirayan, R, Manton, N, Khong, Y, Barnett, CP, Haan, E. Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures. American Journal of Medical Genetics Part A 170(11) : 2960 -2964 2016
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Bhabha, FK, Walsh, M, Orchard, D, Savarirayan, R. Terminal osseous dysplasia. Australasian Journal of Dermatology 57(4) : 312 -315 2016
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Yap, P, Savarirayan, R. Emerging targeted drug therapies in skeletal dysplasias. American Journal of Medical Genetics Part A 170(10) : 2596 -2604 2016
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