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Details

Role Group Leader / Honorary Fellow Manager
Research area Genomic Medicine
Group Molecular Therapies

Top Publications

  • Savarirayan, R, Bompadre, V, Bober, MB, Cho, T-J, Goldberg, MJ, Hoover-Fong, J, Irving, M, Kamps, SE, Mackenzie, WG, Raggio, C, et al. Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders. Genetics in Medicine 21(9) : 2070 -2080 2019
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  • Savarirayan, R, Irving, M, Bacino, CA, Bostwick, B, Charrow, J, Cormier-Daire, V, Le Quan Sang, K-H, Dickson, P, Harmatz, P, Phillips, J, et al. C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. New England Journal of Medicine 381(1) : 25 -35 2019
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  • McKay, MJ, Craig, J, Kalitsis, P, Kozlov, S, Verschoor, S, Chen, P, Lobachevsky, P, Vasireddy, R, Yan, Y, Ryan, J, et al. A Roberts Syndrome Individual With Differential Genotoxin Sensitivity and a DNA Damage Response Defect. International Journal of Radiation Oncology • Biology • Physics 103(5) : 1194 -1202 2019
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  • Burrage, LC, Reynolds, JJ, Baratang, NV, Phillips, JB, Wegner, J, McFarquhar, A, Higgs, MR, Christiansen, AE, Lanza, DG, Seavitt, JR, et al. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. American Journal of Human Genetics 104(3) : 422 -438 2019
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  • Savarirayan, R, Rossiter, JP, Hoover-Fong, JE, Irving, M, Bompadre, V, Goldberg, MJ, Bober, MB, Cho, T-J, Kamps, SE, Mackenzie, WG, et al. Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia. American Journal of Obstetrics and Gynecology 219(6) : 545 -562 2018
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