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Details

Role Team Leader / Senior Research Officer
Research area Genomic Medicine

Top Publications

  • Calvo, SE, Compton, AG, Hershman, SG, Lim, SC, Lieber, DS, Tucker, EJ, Laskowski, A, Garone, C, Liu, S, Jaffe, DB, et al. Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing. Science Translational Medicine 4(118) : 118ra10 2012
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  • McKenzie, M, Tucker, EJ, Compton, AG, Lazarou, M, George, C, Thorburn, DR, Ryan, MT. Mutations in the Gene Encoding C8orf38 Block Complex I Assembly by Inhibiting Production of the Mitochondria-Encoded Subunit ND1. Journal of Molecular Biology 414(3) : 413 -426 2011
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  • Tucker, EJ, Hershman, SG, Köhrer, C, Belcher-Timme, CA, Patel, J, Goldberger, OA, Christodoulou, J, Silberstein, JM, McKenzie, M, Ryan, MT, et al. Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation. Cell Metabolism 14(3) : 428 -434 2011
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  • Swalwell, H, Kirby, DM, Blakely, EL, Mitchell, A, Salemi, R, Sugiana, C, Compton, AG, Tucker, EJ, Ke, B-X, Lamont, PJ, et al. Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. European Journal of Human Genetics 19(7) : 769 -775 2011
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  • Taylor, RW, Swalwell, H, Kirby, DM, Blakely, EL, Mitchell, A, Salemi, R, Sugiana, C, Compton, AG, Tucker, EJ, Ke, B-X, et al. P59 Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. Neuromuscular Disorders 21: s23 2011
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