Details

Role Group Leader / Honorary Fellow Manager

Research area Genomic Medicine

Group Molecular Therapies

Top Publications

Trochet, D, Mathieu, Y, de Pontual, L, Savarirayan, R, Munnich, A, Brunet, J, Lyonnet, S, Goridis, C, Amiel, J. In Vitro studies of non poly alanine PHOX2B mutations argue against a loss‐of‐function mechanism for congenital central hypoventilation. Human Mutation 30(2) : e421 -e431 2009
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Gécz, J, Savarirayan, R. Spondyloepiphyseal Dysplasia Tarda. 1972 -1973 2009
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Leung, AKC, Kao, CP, Wong, AL. Sacrococcygeal Teratoma. 1879 -1880 2009
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Coman, D, Bacic, S, Boys, A, Sparrow, DB, Dunwoodie, SL, Savarirayan, R, Amor, DJ. Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p. American Journal of Medical Genetics Part A 146A(15) : 1972 -1976 2008
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Coman, D, Irving, M, Kannu, P, Jaeken, J, Savarirayan, R. The skeletal manifestations of the congenital disorders of glycosylation. Clinical Genetics 73(6) : 507 -515 2008
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