Details

Role Group Leader / Honorary Fellow Manager

Research area Genomic Medicine

Group Molecular Therapies

Top Publications

Hayes, IM, Varigos, G, Upjohn, EJ, Orchard, DC, Penny, DJ, Savarirayan, R. Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti. American Journal of Medical Genetics Part A 135A(3) : 302 -303 2005
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Bateman, JF, Wilson, R, Freddi, S, Lamandé, SR, Savarirayan, R. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. Human Mutation 25(6) : 525 -534 2005
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Da Costa, AC, Savarirayan, R, Wrennall, JA, Walters, I, Gardiner, N, Tucker, A, Anderson, V, Meara, JG. Neuropsychological Diversity in Apert Syndrome. Annals of Plastic Surgery 54(4) : 450 -455 2005
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Amor, DJ, Voullaire, L, Bentley, K, Savarirayan, R, Choo, KHA. Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1‐13q32.3. American Journal of Medical Genetics Part A 133A(2) : 151 -157 2005
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Cohn, AC, Kearns, LS, Savarirayan, R, Ryan, J, Craig, JE, Mackey, DA. Chromosomal Abnormalities and Glaucoma: A Case of Congenital Glaucoma with Trisomy 8q22-Qter/ Monosomy 9p23-Pter. Ophthalmic Genetics 26(1) : 45 -53 2005
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