Savarirayan, Ravi

Nosology and classification of genetic skeletal disorders: 2019 revision

Mortier, G. R., Cohn, D. H., Cormier‐Daire, V., Hall, C., Krakow, D., Mundlos, S., Nishimura, G., Robertson, S., Sangiorgi, L., Savarirayan, R., et al. (2019) · American Journal of Medical Genetics Part A

Connective tissue disorders researchGenomics and Rare Diseases

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Nosology and classification of genetic skeletal disorders: 2015 revision

Bonafe, L., Cormier‐Daire, V., Hall, C., Lachman, R., Mortier, G., Mundlos, S., Nishimura, G., Sangiorgi, L., Savarirayan, R., Sillence, D., et al. (2015) · American Journal of Medical Genetics Part A

Connective tissue disorders researchGenomics and Rare Diseases

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Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype

Martinelli, S., De Luca, A., Stellacci, E., Rossi, C., Checquolo, S., Lepri, F., Caputo, V., Silvano, M., Buscherini, F., Consoli, F., et al. (2010) · The American Journal of Human Genetics

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

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Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

Garbes, L., Kim, K., Rieß, A., Hoyer-Kuhn, H., Beleggia, F., Bevot, A., Kim, M. J., Huh, Y. H., Kweon, H.-S., Savarirayan, R., et al. (2015) · The American Journal of Human Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

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Neurodevelopmental functioning of infants with untreated single-suture craniosynostosis during early infancy

Da Costa, A. C., Anderson, V. A., Savarirayan, R., Wrennall, J. A., Chong, D. K., Holmes, A. D., Greensmith, A. L., & Meara, J. G. (2012) · Child s Nervous System

Craniofacial Disorders and TreatmentsFetal and Pediatric Neurological Disorders

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