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Details

Role Group Leader / Honorary Fellow Manager
Research area Genomic Medicine

Top Publications

  • Stals, KL, Wakeling, M, Baptista, J, Caswell, R, Parrish, A, Rankin, J, Tysoe, C, Jones, G, Gunning, AC, Allen, HL, et al. Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing. Prenatal Diagnosis 38(1) : 33 -43 2018
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  • White, KK, Bompadre, V, Goldberg, MJ, Bober, MB, Cho, T, Hoover‐Fong, JE, Irving, M, Mackenzie, WG, Kamps, SE, Raggio, C, et al. Best practices in peri‐operative management of patients with skeletal dysplasias. American Journal of Medical Genetics Part A 173(10) : 2584 -2595 2017
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  • Tan, TY, Dillon, OJ, Stark, Z, Schofield, D, Alam, K, Shrestha, R, Chong, B, Phelan, D, Brett, GR, Creed, E, et al. Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. JAMA Pediatrics 171(9) : 855 -862 2017
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  • Simm, PJ, Savarirayan, R. Successful Use of Enzyme Replacement Therapy in Infantile Hypophosphatasia. Journal of Paediatrics and Child Health 53(9) : 925 -926 2017
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  • Lamandé, SR, Cameron, TL, Savarirayan, R, Bateman, JF. Molecular Genetics of the Cartilage Collagenopathies. 99 -133 2017
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