Stark, Z, Savarirayan, R. Osteopetrosis.. Orphanet J Rare Dis 4: 5 2009
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Yeung, A, Amor, D, Savarirayan, R. Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome.. Am J Med Genet A 149A(4) : 767 -769 2009
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Bruno, DL, Ganesamoorthy, D, Schoumans, J, Bankier, A, Coman, D, Delatycki, M, Gardner, RJM, Hunter, M, James, PA, Kannu, P, et al. Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.. J Med Genet 46(2) : 123 -131 2009
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Kannu, P, Bateman, JF, Belluoccio, D, Fosang, AJ, Savarirayan, R. Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis.. Arthritis Rheum 60(2) : 325 -334 2009
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Trochet, D, Mathieu, Y, Pontual, LD, Savarirayan, R, Munnich, A, Brunet, J-F, 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.. Hum Mutat 30(2) : E421 -E431 2009
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