Details

Role Group Leader / Honorary Fellow Manager

Research area Genomic Medicine

Group Molecular Therapies

Top Publications

Bonafe, L, Cormier-Daire, V, Hall, C, Lachman, R, Mortier, G, Mundlos, S, Nishimura, G, Sangiorgi, L, Savarirayan, R, Sillence, D, et al. Nosology and classification of genetic skeletal disorders: 2015 revision. American Journal of Medical Genetics Part A 167(12) : 2869 -2892 2015
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Stark, Z, Behrsin, J, Burgess, T, Ritchie, A, Yeung, A, Tan, TY, Brown, NJ, Savarirayan, R, Patel, N. SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia. American Journal of Medical Genetics Part A 167(10) : 2319 -2326 2015
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Flöttmann, R, Wagner, J, Kobus, K, Curry, CJ, Savarirayan, R, Nishimura, G, Yasui, N, Spranger, J, Van Esch, H, Lyons, MJ, et al. Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. Journal of Medical Genetics 52(7) : 476 2015
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Garbes, L, Kim, K, Rieß, A, Hoyer-Kuhn, H, Beleggia, F, Bevot, A, Kim, MJ, Huh, YH, Kweon, H-S, Savarirayan, R, et al. Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta. American Journal of Human Genetics 96(3) : 432 -439 2015
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Banka, S, Lederer, D, Benoit, V, Jenkins, E, Howard, E, Bunstone, S, Kerr, B, McKee, S, Lloyd, IC, Shears, D, et al. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2). Clinical Genetics 87(3) : 252 -258 2015
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