Susan Hayflick


  • 6358 Citations
  • 41 h-Index
1976 …2019

Research output per year

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  • Research Output

    4′-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN

    Jeong, S. Y., Hogarth, P., Placzek, A., Gregory, A. M., Fox, R., Zhen, D., Hamada, J., van der Zwaag, M., Lambrechts, R., Jin, H., Nilsen, A., Cobb, J., Pham, T., Gray, N., Ralle, M., Duffy, M., Schwanemann, L., Rai, P., Freed, A., Wakeman, K. & 3 others, Woltjer, R. L., Sibon, O. C. M. & Hayflick, S. J., Dec 1 2019, In : EMBO Molecular Medicine. 11, 12, e10489.

    Research output: Contribution to journalArticle

    Open Access
  • 4 Scopus citations

    A new NBIA patient from Turkey with homozygous C19ORF12 mutation

    Kasapkara, Ç. S., Tümer, L., Gregory, A., Ezgü, F., İnci, A., Derinkuyu, B. E., Fox, R., Rogers, C. & Hayflick, S., Dec 1 2019, In : Acta Neurologica Belgica. 119, 4, p. 623-625 3 p.

    Research output: Contribution to journalLetter

    1 Scopus citations

    Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN)

    Gregory, A., Lotia, M., Jeong, S. Y., Fox, R., Zhen, D., Sanford, L., Hamada, J., Jahic, A., Beetz, C., Freed, A., Kurian, M. A., Cullup, T., van der Weijden, M. C. M., Nguyen, V., Setthavongsack, N., Garcia, D., Krajbich, V., Pham, T., Woltjer, R., George, B. P. & 5 others, Minks, K. Q., Paciorkowski, A. R., Hogarth, P., Jankovic, J. & Hayflick, S. J., Jul 2019, In : Molecular Genetics and Genomic Medicine. 7, 7, e00736.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Scopus citations

    Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study

    Klopstock, T., Tricta, F., Neumayr, L., Karin, I., Zorzi, G., Fradette, C., Kmieć, T., Büchner, B., Steele, H. E., Horvath, R., Chinnery, P. F., Basu, A., Küpper, C., Neuhofer, C., Kálmán, B., Dušek, P., Yapici, Z., Wilson, I., Zhao, F., Zibordi, F. & 7 others, Nardocci, N., Aguilar, C., Hayflick, S., Spino, M., Blamire, A. M., Hogarth, P. & Vichinsky, E., Jul 2019, In : The Lancet Neurology. 18, 7, p. 631-642 12 p.

    Research output: Contribution to journalArticle

  • 14 Scopus citations

    De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities

    Leduc, M. S., Mcguire, M., Madan-Khetarpal, S., Ortiz, D., Hayflick, S., Keller, K., Eng, C. M., Yang, Y. & Bi, W., Mar 1 2018, In : Human Genetics. 137, 3, p. 257-264 8 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations