photo of Dr Ann Frazier

Dr Ann Frazier

Dr Ann Frazier

Details

Role Senior Research Officer
Research area Genetics

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 2020
    view publication
  • 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
    view publication
  • Jackson, TD, Crameri, JJ, Muellner-Wong, L, Frazier, AE, Palmer, CS, Formosa, LE, Hock, DH, Fujihara, KM, Stait, T, Sharpe, AJ, et al. Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 module. Proceedings of the National Academy of Sciences of the United States of America 119(13) : e2115566119 2022
    view publication
  • Hock, DH, Compton, AG, Amarasekera, SSC, Frazier, AE, Helman, G, Lake, NJ, Semcesen, LN, Stark, Z, Lek, M, Simons, C, et al. Mainstreaming proteomics into rare disease diagnostics. 2022
    view publication
  • Granata, C, Caruana, NJ, Botella, J, Jamnick, NA, Huynh, K, Kuang, J, Janssen, HA, Reljic, B, Mellett, NA, Laskowski, A, et al. High-intensity training induces non-stoichiometric changes in the mitochondrial proteome of human skeletal muscle without reorganisation of respiratory chain content. Nature Communications 12(1) : 7056 2021
    view publication

Page 1 of 10

Professional activities