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Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression..
PLoS Genet
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Hershman, SG, Tucker, EJ, 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.
Mitochondrion
12(5)
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583
2012
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Tucker, EJ, Mimaki, M, Compton, AG, McKenzie, M, Ryan, MT, Thorburn, DR.
Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation..
Hum Mutat
33(2)
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2012
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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..
Sci Transl Med
4(118)
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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..
J Mol Biol
414(3)
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413 -426
2011
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