Eric W Klee, PhD

Assistant Professor

  • 1660 Citations
  • 24 h-Index

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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

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

Molecular biology
Gene expression
4 Citations

Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists

Roy, S., Coldren, C., Karunamurthy, A., Kip, N. S., Klee, E. W., Lincoln, S. E., Leon, A., Pullambhatla, M., Temple-Smolkin, R. L., Voelkerding, K. V., Wang, C. & Carter, A. B. Jan 1 2018 In : Journal of Molecular Diagnostics. 20, 1, p. 4-27 24 p.

Research output: Contribution to journalReview article

Molecular Pathology
Computational Biology
Patient Care

Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies

Cousin, M. A., Smith, M. J., Sigafoos, A. N., Jin, J. J., Murphree, M. I., Boczek, N. J., Blackburn, P. R., Oliver, G. R., Aleff, R. A., Clark, K. J., Wieben, E. D., Joshi, A. Y., Pichurin, P. N., Abraham, R. S. & Klee, E. W. Apr 18 2018 (Accepted/In press) In : Journal of Clinical Immunology. p. 1-13 13 p.

Research output: Contribution to journalArticle

Ataxia Telangiectasia
Chromosomes, Human, Pair 11

A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation

Blackburn, P. R., Williams, M., Cousin, M. A., Boczek, N. J., Beek, G. J., Lomberk, G. A., Urrutia, R. A., Babovic-Vuksanovic, D. & Klee, E. W. Jan 1 2017 In : Molecular Genetics and Genomic Medicine. 5, 2, p. 141-146 6 p.

Research output: Contribution to journalArticle

Muscle Hypotonia