photo of Dr Ann Frazier

Dr Ann Frazier

Dr Ann Frazier

Details

Role Senior Research Officer
Research area Genomic Medicine

Contact

Available for student supervision

Top Publications

  • 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
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  • Desai, R, Frazier, AE, Durigon, R, Patel, H, Jones, AW, Rosa, ID, Lake, NJ, Compton, AG, Mountford, HS, Tucker, EJ, et al. ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. Brain 140(6) : 1595 -1610 2017
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  • Baker, MJ, Blau, KU, Anderson, AJ, Palmer, CS, Fielden, LF, Crameri, JJ, Milenkovic, D, Thorburn, DR, Frazier, AE, Langer, T, et al. CLPB disaggregase dysfunction impacts the functional integrity of the proteolytic SPY complex. Journal of Cell Biology 223(3) : e202305087 2024
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  • Kang, Y, Anderson, AJ, Jackson, TD, Palmer, CS, De Souza, DP, Fujihara, KM, Stait, T, Frazier, AE, Clemons, NJ, Tull, D, et al. Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome. eLife 8: e48828 2024
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  • Bird, MJ, Needham, K, Frazier, AE, van Rooijen, J, Leung, J, Hough, S, Denham, M, Thornton, ME, Parish, CL, Nayagam, BA, et al. Functional Characterization of Friedreich Ataxia iPS-Derived Neuronal Progenitors and Their Integration in the Adult Brain. PLOS ONE 9(7) : e101718 2024
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