Susan Hayflick

Professor

  • 5507 Citations
  • 37 h-Index
1976 …2018
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  • 2 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
Autophagy
Mitochondrial Membranes
Nervous System Diseases

The Molecular Basis of Infantile Neuroaxonal Dystrophy

Hayflick, S.

National Institutes of Health

5/10/062/28/10

Project: Research projectResearch Project

Neuroaxonal Dystrophies
Genes
Phenotype
Axonal Transport
Peripheral Nervous System
Pantothenate Kinase-Associated Neurodegeneration
Education
Retinitis Pigmentosa
Iron
Basal Ganglia

MOLECULAR BASIS OF SYNDROMIC RETINITIS PIGMENTOSA

Hayflick, S.

National Institutes of Health

1/1/9912/31/08

Project: Research projectResearch Project

Retinitis Pigmentosa
Pantothenate Kinase-Associated Neurodegeneration
Macular Degeneration
Lipofuscin
Coenzyme A

Research Output 1982 2018

  • 5507 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

Turkey
Mutation

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

Iris
Eye Abnormalities
Intellectual Disability
Mutation
Coloboma
1 Citations

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

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

Research output: Contribution to journalArticle

Pantothenate Kinase-Associated Neurodegeneration
Tigers
Globus Pallidus
Iron
Subthalamic Nucleus
5 Citations

Neurodegeneration with brain iron accumulation

Hayflick, S. J., Kurian, M. A. & Hogarth, 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

Mutation
Pantothenate Kinase-Associated Neurodegeneration
Exome
Inborn Genetic Diseases
Phospholipases A2
2 Citations

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. J., 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

Manganese
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Mutation
Dystonia
Metabolism