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Details

Role Group Leader / Honorary Fellow Manager
Research area Genomic Medicine
Group Molecular Therapies

Top Publications

  • Hendriksz, CJ, Berger, KI, Giugliani, R, Harmatz, P, Kampmann, C, Mackenzie, WG, Raiman, J, Villarreal, MS, Savarirayan, R. International guidelines for the management and treatment of Morquio A syndrome. American Journal of Medical Genetics Part A 167(1) : 11 -25 2015
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  • Aspinall, A, Raj, S, Jugessur, A, Marazita, M, Savarirayan, R, Kilpatrick, N. Expanding the cleft phenotype: the dental characteristics of unaffected parents of Australian children with non‐syndromic cleft lip and palate. International Journal of Paediatric Dentistry 24(4) : 286 -292 2014
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  • Donoghue, LJ, Sahhar, MA, Savarirayan, R, Raj, S, Kilpatrick, NM, Forrest, LE. The impact of participation in genetic research for families with cleft lip with and without cleft palate: a qualitative study. Journal of Community Genetics 5(3) : 249 -256 2014
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  • Burgess, T, Brown, NJ, Stark, Z, Bruno, DL, Oertel, R, Chong, B, Calabro, V, Kornberg, A, Sanderson, C, Kelly, J, et al. Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions. American Journal of Medical Genetics Part A 164(1) : 77 -86 2014
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  • Miller, KA, Tan, TY, Welfare, MF, White, SM, Stark, Z, Savarirayan, R, Burgess, T, Heggie, AA, Caruana, G, Bertram, JF, et al. A Mouse Splice-Site Mutant and Individuals with Atypical Chromosome 22q11.2 Deletions Demonstrate the Crucial Role for Crkl in Craniofacial and Pharyngeal Development. Molecular Syndromology 5(6) : 276 -286 2014
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