Details

Role Group Leader / Honorary Fellow Manager

Research area Genomic Medicine

Group Molecular Therapies

Top Publications

IRELAND, PJ, MCGILL, J, ZANKL, A, WARE, RS, PACEY, V, AULT, J, SAVARIRAYAN, R, SILLENCE, D, THOMPSON, EM, TOWNSHEND, S, et al. Functional performance in young Australian children with achondroplasia. Developmental Medicine & Child Neurology 53(10) : 944 -950 2011
view publication
Stark, Z, Storen, R, Bennetts, B, Savarirayan, R, Jamieson, RV. Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. European Journal of Human Genetics 19(7) : 753 -756 2011
view publication
Kannu, P, Irving, M, Aftimos, S, Savarirayan, R. Two Novel COL2A1 Mutations Associated with a Legg-Calvé-Perthes Disease-like Presentation. Clinical Orthopaedics and Related Research® 469(6) : 1785 -1790 2011
view publication
Warman, ML, Cormier-Daire, V, Hall, C, Krakow, D, Lachman, R, LeMerrer, M, Mortier, G, Mundlos, S, Nishimura, G, Rimoin, DL, et al. Nosology and classification of genetic skeletal disorders: 2010 revision. American Journal of Medical Genetics Part A 155(5) : 943 -968 2011
view publication
Mill, P, Lockhart, PJ, Fitzpatrick, E, Mountford, HS, Hall, EA, Reijns, MAM, Keighren, M, Bahlo, M, Bromhead, CJ, Budd, P, et al. Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis. American Journal of Human Genetics 88(4) : 508 -515 2011
view publication