Details

Role Group Leader / Honorary Fellow Manager

Research area Genomic Medicine

Group Molecular Therapies

Top Publications

Savarirayan, R, White, SM, Goodman, FR, Graham, JM, Delatycki, MB, Lachman, RS, Rimoin, DL, Everman, DB, Warman, ML. Broad phenotypic spectrum caused by an identical heterozygous CDMP‐1 mutation in three unrelated families. American Journal of Medical Genetics Part A 117A(2) : 136 -142 2003
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Bateman, JF, Freddi, S, Nattrass, G, Savarirayan, R. Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage. Human Molecular Genetics 12(3) : 217 -225 2003
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Savarirayan, R, Robertson, SP, Bankier, A, Rogers, JG. Variable Expression of Campomelic Dysplasia in a Father and his 46, XY Daughter. Fetal and Pediatric Pathology 22(1) : 37 -46 2003
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Aldred, M, Savarirayan, R, Crawford, P. Amelogenesis imperfecta: a classification and catalogue for the 21st century. Oral Diseases 9(1) : 19 -23 2003
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Everman, DB, Bartels, CF, Yang, Y, Yanamandra, N, Goodman, FR, Mendoza‐Londono, JR, Savarirayan, R, White, SM, Graham, JM, Gale, RP, et al. The mutational spectrum of brachydactyly type C. American Journal of Medical Genetics 112(3) : 291 -296 2002
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