Details

Role Group Leader / Honorary Fellow Manager

Research area Genomic Medicine

Group Molecular Therapies

Top Publications

Bowen, ME, Boyden, ED, Holm, IA, Campos-Xavier, B, Bonafé, L, Superti-Furga, A, Ikegawa, S, Cormier-Daire, V, Bovée, JV, Pansuriya, TC, et al. Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome. PLOS Genetics 7(4) : e1002050 2011
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Kannu, P, Bateman, JF, Savarirayan, R. Reply. Arthritis & Rheumatism 63(2) : 569 -570 2011
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Andreucci, E, Aftimos, S, Alcausin, M, Haan, E, Hunter, W, Kannu, P, Kerr, B, McGillivray, G, Gardner, RM, Patricelli, MG, et al. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Orphanet Journal of Rare Diseases 6(1) : 37 2011
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Savarirayan, R. Skeletal dysplasias in fetuses: perinatal presentations and the genetic approach. Pathology 43: s9 2011
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Fukuzawa, R, Holman, SK, Chow, CW, Savarirayan, R, Reeve, AE, Robertson, SP. WTX mutations can occur both early and late in the pathogenesis of Wilms tumour. Journal of Medical Genetics 47(11) : 791 2010
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