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Yap, P, Savarirayan, R.
Emerging targeted drug therapies in skeletal dysplasias..
Am J Med Genet A
170(10)
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2596 -2604
2016
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Fenwick, AL, Kliszczak, M, Cooper, F, Murray, J, Sanchez-Pulido, L, Twigg, SRF, Goriely, A, McGowan, SJ, Miller, KA, Taylor, IB, et al.
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis..
Am J Hum Genet
99(1)
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125 -138
2016
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Yap, P, Liebelt, JE, Amor, DJ, Moore, L, Savarirayan, R.
Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype..
Am J Med Genet A
170A(5)
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1363 -1366
2016
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White, KK, Savarirayan, R, Goldberg, MJ, MacKenzie, W, Bompadre, V, Bober, MB, Cho, T-J, Hoover-Fong, J, Parnell, SE, Raggio, C, et al.
Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?"..
Am J Med Genet A
170A(4)
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1101 -1103
2016
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Mordaunt, DA, Savarirayan, R.
Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?.
Hum Mutat
37(3)
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2016
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