Research Output per year
Fingerprint Fingerprint is based on mining the text of the persons scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.
- 9 Similar Profiles
Exome
Medicine & Life Sciences
Zebrafish
Medicine & Life Sciences
Genes
Medicine & Life Sciences
Precision Medicine
Medicine & Life Sciences
Genomics
Medicine & Life Sciences
Genome
Medicine & Life Sciences
Prostatic Neoplasms
Medicine & Life Sciences
Biomarkers
Medicine & Life Sciences
Network
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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 journal › Article
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 proceeding › Conference 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 journal › Review 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 journal › Article
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 journal › Article
Fibroblasts
Exome
Haploinsufficiency
Microcephaly
Muscle Hypotonia