Details

Role Group Leader / Honorary Fellow Manager

Research area Genomic Medicine

Group Molecular Therapies

Top Publications

Janssens, K, Thompson, E, Vanhoenacker, F, Savarirayan, R, Morris, L, Dobbie, A, Van Hul, W. Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?. Clinical Dysmorphology 12(4) : 245 2003
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Savarirayan, R, Thompson, E, Gécz, J. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). European Journal of Human Genetics 11(9) : 639 -642 2003
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Hyland, VJ, Robertson, SP, Flanagan, S, Savarirayan, R, Roscioli, T, Masel, J, Hayes, M, Glass, IA. Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. American Journal of Medical Genetics Part A 120A(2) : 157 -168 2003
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Aldred, M, Crawford, P, Savarirayan, R, Savulescu, J. It's only teeth – are there limits to genetic testing?. Clinical Genetics 63(5) : 333 -339 2003
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White, SM, Adès, LC, Amor, D, Liebelt, J, Bankier, A, Baker, E, Wilson, M, Savarirayan, R. Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition. Clinical Dysmorphology 12(2) : 109 2003
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