Eric W Klee, PhD

Assistant Professor

  • 1660 Citations
  • 24 h-Index
20012018

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Exome Medicine & Life Sciences
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Biomarkers Medicine & Life Sciences

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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

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
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
Joints
Guidelines
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

Exome
RNA
Ataxia Telangiectasia
Chromosomes, Human, Pair 11
DNA

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

Fibroblasts
Exome
Haploinsufficiency
Microcephaly
Muscle Hypotonia