Dr Alison Compton
Dr Alison Compton
Details
Role
Team Leader / Senior Research Officer
Research area
Genomic Medicine
Group
Brain and Mitochondrial
Top Publications
- Rius, R, Compton, AG, Baker, NL, Welch, AE, Coman, D, Kava, MP, Minoche, AE, Cowley, MJ, Thorburn, DR, Christodoulou, J. Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases. Genes 12(4) : 607 2024 view publication
- Frazier, AE, Compton, AG, Kishita, Y, Hock, DH, Welch, AE, Amarasekera, SSC, Rius, R, Formosa, LE, Imai-Okazaki, A, Francis, D, et al. Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus. Med 2(1) : 49 -73.e10 2021 view publication
- Frazier, AE, Thorburn, DR, Compton, AG. Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology. Journal of Biological Chemistry 294(14) : 5386 -5395 2019 view publication
- Lake, NJ, Compton, AG, Rahman, S, Thorburn, DR. Leigh syndrome: One disorder, more than 75 monogenic causes. Annals of Neurology 79(2) : 190 -203 2016 view publication
- 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 view publication
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