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Details

Role Team Leader / Senior Research Officer
Research area Genomic Medicine
Group Reproductive Development

Top Publications

  • Lim, SC, Smith, KR, Stroud, DA, Compton, AG, Tucker, EJ, Dasvarma, A, Gandolfo, LC, Marum, JE, McKenzie, M, Peters, HL, et al. A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome. American Journal of Human Genetics 94(2) : 209 -222 2014
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  • Lim, SC, Friemel, M, Marum, JE, Tucker, EJ, Bruno, DL, Riley, LG, Christodoulou, J, Kirk, EP, Boneh, A, DeGennaro, CM, et al. Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. Human Molecular Genetics 22(22) : 4460 -4473 2013
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  • Tucker, EJ, Wanschers, BFJ, Szklarczyk, R, Mountford, HS, Wijeyeratne, XW, van den Brand, MAM, Leenders, AM, Rodenburg, RJ, Reljić, B, Compton, AG, et al. Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression. PLOS Genetics 9(12) : e1004034 2013
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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) : 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. Human Mutation 33(2) : 411 -418 2012
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