Eric W Klee, PhD

Assistant Professor

  • 1791 Citations
  • 26 h-Index
20012018
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Research Output 2001 2018

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

Blackburn, P. R., Xu, Z., Tumelty, K. E., Zhao, R. W., Monis, W. J., Harris, K. G., Gass, J. M., Cousin, M. A., Boczek, N. J., Mitkov, M. V., Cappel, M. A., Francomano, C. A., Parisi, J. E., Klee, E. W., Faqeih, E., Alkuraya, F. S., Layne, M. D., McDonnell, N. B. & Atwal, P. S., Apr 5 2018, In : American Journal of Human Genetics. 102, 4, p. 696-705 10 p.

Research output: Contribution to journalArticle

Ehlers-Danlos Syndrome
Connective Tissue
Collagen
Carboxypeptidases
Skin

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants

Boczek, N. J., Hopp, K., Benoit, L., Kraft, D., Cousin, M. A., Blackburn, P. R., Madsen, C. D., Oliver, G. R., Nair, A. A., Na, J., Bianchi, D. W., Beek, G., Harris, P. C., Pichurin, P. & Klee, E. W., Jan 1 2018, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Exome
Orofaciodigital Syndromes
Pedigree
Phenotype
RNA Sequence Analysis
2 Citations

Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes

Mangaonkar, A. A., Ferrer, A., Pinto e Vairo, F., Cousin, M. A., Kuisle, R. J., Klee, E. W., Kennedy, C. C., Peters, S. G., Scott, J. P., Utz, J. P., Baqir, M., Sekiguchi, H., Khan, S. P., Rodriguez, V., Simonetto, D. A., Kamath, P. S., Abraham, R. S., Wylam, M. E. & Patnaik, M. M., Jul 1 2018, In : Mayo Clinic Proceedings. 93, 7, p. 834-839 6 p.

Research output: Contribution to journalArticle

Telomere
Idiopathic Interstitial Pneumonias
Danazol
Transplants
Phenotype

Deep Learning for Better Variant Calling for Cancer Diagnosis and Treatment

Ramachandran, A., Li, H., Klee, E., Lumetta, S. S. & Chen, D., Feb 20 2018, ASP-DAC 2018 - 23rd Asia and South Pacific Design Automation Conference, Proceedings. Institute of Electrical and Electronics Engineers Inc., Vol. 2018-January, p. 16-21 6 p.

Research output: Chapter in Book/Report/Conference proceedingConference contribution

DNA
Throughput
Molecular biology
Bioinformatics
Gene expression

Development and Verification of an RNA Sequencing (RNA-Seq) Assay for the Detection of Gene Fusions in Tumors

Winters, J. L. , Davila, J. I. , McDonald, A. M. , Nair, A. A. , Fadra, N. , Wehrs, R. N. , Thomas, B. C. , Balcom, J. R. , Jin, L. , Wu, X. , Voss, J. S. , Klee, E. W. , Oliver, G. R. , Graham, R. P. , Neff, J. L. , Rumilla, K. M. , Aypar, U. , Kipp, B. R. , Jenkins, R. B. , Jen, J. & 1 others Halling, K. C., Jul 1 2018, In : Journal of Molecular Diagnostics. 20, 4, p. 495-511 17 p.

Research output: Contribution to journalArticle

RNA Sequence Analysis
Gene Fusion
Neoplasms
RNA
Investigational Therapies