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Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
American Journal of Human Genetics
99(1)
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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.
American Journal of Medical Genetics Part A
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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?”.
American Journal of Medical Genetics Part A
170(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?.
Human Mutation
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324 -324
2016
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Ahimastos, AA, Aggarwal, A, Savarirayan, R, Dart, AM, Kingwell, BA.
Retraction notice to “A role for plasma transforming growth factor-β and matrix metalloproteinases in aortic aneurysm surveillance in Marfan syndrome?” [Atherosclerosis 209(1) (2010) 211–214].
Atherosclerosis
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385
2016
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