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Personal profile

Education/Academic qualification

PhD, University of Minnesota Twin Cities

Sep 1 1992Dec 31 1996

MD, Charles University

Sep 1 1984Sep 27 1990

Fingerprint The Fingerprint is created by mining the titles and abstracts of the person's research outputs and projects/funding awards to create an index of weighted terms from discipline-specific thesauri.

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Mucopolysaccharidosis I Medicine & Life Sciences
Cell Transplantation Medicine & Life Sciences
Epidermolysis Bullosa Dystrophica Medicine & Life Sciences
Transplants Medicine & Life Sciences
Bone Marrow Medicine & Life Sciences
Stem cells Chemical Compounds
Epidermolysis Bullosa Medicine & Life Sciences
Mesenchymal Stromal Cells Medicine & Life Sciences

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Projects 1994 2023

Research Output 1996 2019

A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex

Tryon, R. K., Tolar, J., Preusser, S. M., Riddle, M. J., Keene, D. R., Bower, M., Thyagarajan, B. & Ebens, C., Jul 1 2019, In : JAAD Case Reports. 5, 7, p. 576-579 4 p.

Research output: Contribution to journalArticle

Open Access
Epidermolysis Bullosa Simplex
Keratin-5
Keratins
Genes
Autosomal Recessive Epidermolysis Bullosa Simplex
1 Citation (Scopus)
Epidermolysis Bullosa Dystrophica
Cyclophosphamide
Bone Marrow
Tissue Donors
Transplants

Erratum: Correction: Rapid DNA replication origin licensing protects stem cell pluripotency (eLife (2017) 6 PII: e49040)

Matson, J. P., Dumitru, R., Coryell, P., Baxley, R. M., Chen, W., Twaroski, K., Webber, B. R., Tolar, J., Bielinsky, A. K., Purvis, J. E. & Cook, J. G., Jun 5 2019, In : eLife. 8

Research output: Contribution to journalComment/debate

Open Access
Replication Origin
Licensure
Chromosomes
Stem cells
DNA Replication

Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes

Eisengart, J., Pierpont, R., Kaizer, A. M., Rudser, K., King, K. E., Pasquali, M., Polgreen, L. E., Dickson, P. I., Le, S. Q., Miller, W. P., Tolar, J., Orchard, P. J. & Lund, T. C., Jan 1 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticle

Open Access
Mucopolysaccharidosis I
Enzyme Replacement Therapy
Biomarkers
Cerebrospinal Fluid
Enzymes
1 Citation (Scopus)
Clustered Regularly Interspaced Short Palindromic Repeats
Induced Pluripotent Stem Cells
Transcription
Fibroblasts
Stem cells