Susan Hayflick


  • 5725 Citations
  • 37 h-Index
1976 …2018
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  • 3 Similar Profiles
Pantothenate Kinase-Associated Neurodegeneration Medicine & Life Sciences
Mutation Medicine & Life Sciences
Iron Medicine & Life Sciences
Neuroaxonal Dystrophies Medicine & Life Sciences
Neurodegenerative Diseases Medicine & Life Sciences
Genes Medicine & Life Sciences
Dystonia Medicine & Life Sciences
Coenzyme A Medicine & Life Sciences

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Projects 1976 2017

Northwestern United States
Inborn Genetic Diseases
Mitochondrial Membranes
Nervous System Diseases
Neuroaxonal Dystrophies
Axonal Transport
Peripheral Nervous System
Pantothenate Kinase-Associated Neurodegeneration
Retinitis Pigmentosa
Basal Ganglia

Research Output 1982 2018

  • 5725 Citations
  • 37 h-Index
  • 110 Article
  • 4 Chapter
  • 1 Conference contribution

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., Jan 1 2018, (Accepted/In press) In : Acta Neurologica Belgica.

Research output: Contribution to journalArticle


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

Eye Abnormalities
Intellectual Disability
2 Citations (Scopus)

Looking deep into the eye-of-the-tiger in pantothenate kinase-associated neurodegeneration

Lee, J. H., Gregory, A., Hogarth, P. P., Rogers, C. & Hayflick, S., Mar 1 2018, In : American Journal of Neuroradiology. 39, 3, p. 583-588 6 p.

Research output: Contribution to journalArticle

Pantothenate Kinase-Associated Neurodegeneration
Globus Pallidus
Subthalamic Nucleus
11 Citations (Scopus)

Neurodegeneration with brain iron accumulation

Hayflick, S., Kurian, M. A. & Hogarth, P. P., Jan 1 2018, Handbook of Clinical Neurology. Elsevier B.V., p. 293-305 13 p. (Handbook of Clinical Neurology; vol. 147).

Research output: Chapter in Book/Report/Conference proceedingChapter

Pantothenate Kinase-Associated Neurodegeneration
Inborn Genetic Diseases
Phospholipases A2
5 Citations (Scopus)

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies

Rodan, L. H., Hauptman, M., D'Gama, A. M., Qualls, A. E., Cao, S., Tuschl, K., Al-Jasmi, F., Hertecant, J., Hayflick, S., Wessling-Resnick, M., Yang, E. T., Berry, G. T., Gropman, A., Woolf, A. D. & Agrawal, P. B., Jan 1 2018, (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

Congenital, Hereditary, and Neonatal Diseases and Abnormalities