Details

Role Group Leader / Honorary Fellow Manager

Research area Genomic Medicine

Group Molecular Therapies

Top Publications

Lynch, DC, Revil, T, Schwartzentruber, J, Bhoj, EJ, Innes, AM, Lamont, RE, Lemire, EG, Chodirker, BN, Taylor, JP, Zackai, EH, et al. Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome. Nature Communications 5(1) : 4483 2024
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Dalach, P, Savarirayan, R, Baynam, G, McGaughran, J, Kowal, E, Massey, L, Jenkins, M, Paradies, Y, Kelaher, M. “This is My Boy’s Health! Talk Straight to Me!” Perspectives on Accessible and Culturally Safe Care Among Aboriginal and Torres Strait Islander Patients of Clinical Genetics Services. 2024
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Savarirayan, R, Tunkel, DE, Sterni, LM, Bober, MB, Cho, T-J, Goldberg, MJ, Hoover-Fong, J, Irving, M, Kamps, SE, Mackenzie, WG, et al. Best Practice Guidelines in Managing the Craniofacial Aspects of Skeletal Dysplasia. 2024
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White, K, Bober, MB, Cho, T-J, Goldberg, MJ, Hoover-Fong, J, Irving, M, Kamps, S, Mackenzie, WG, Raggio, C, Spencer, SS, et al. Best practice guidelines for management of spinal disorders in skeletal dysplasia. 2024
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White, K, Bober, MB, Cho, T-J, Goldberg, MJ, Hoover-Fong, J, Irving, M, Kamps, S, Mackenzie, WG, Raggio, C, Spencer, SS, et al. Best practice guidelines for management of spinal disorders in skeletal dysplasia. 2024
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