Research Output per year
Fingerprint Fingerprint is based on mining the text of the experts' 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
Computational Biology
Medicine & Life Sciences
Prostatic Neoplasms
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
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 journal › Article
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 journal › Article
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 proceeding › Conference 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 , Jul 1 2018, In : Journal of Molecular Diagnostics. 20, 4, p. 495-511 17 p.Research output: Contribution to journal › Article
RNA Sequence Analysis
Gene Fusion
Neoplasms
RNA
Investigational Therapies