Melissa Haendel

Associate Professor

  • 4283 Citations
  • 35 h-Index
19962020
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  • 9 Similar Profiles
Ontology Engineering & Materials Science
Phenotype Medicine & Life Sciences
Exome Medicine & Life Sciences
Biological Ontologies Medicine & Life Sciences
Rare Diseases Medicine & Life Sciences
Databases Medicine & Life Sciences
Genes Medicine & Life Sciences
Anatomy Medicine & Life Sciences

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Projects 1998 2020

Semantics
Phenotype
Research Personnel
Biological Models
Eagles
Sensory Receptor Cells
Motor Neurons
Neurons
Maintenance
Zebrafish
Genes
Embryonic Stem Cells
Nervous System
Clone Cells
Neurons

Research Output 1996 2019

An analysis and metric of reusable data licensing practices for biomedical resources

Carbon, S., Champieux, R., McMurry, J. A., Winfree, L., Wyatt, L. R. & Haendel, M., Mar 1 2019, In : PloS one. 14, 3, e0213090.

Research output: Contribution to journalArticle

Open Access
research support
biomedical research
Licensure
drugs
Reusability
1 Citation (Scopus)

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Undiagnosed Diseases Network, Jan 3 2019, In : American Journal of Human Genetics. 104, 1, p. 164-178 15 p.

Research output: Contribution to journalArticle

Intellectual Disability
Hypertrichosis
Genes
Exome
Eyebrows
5 Citations (Scopus)

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O. B., Danis, D., Gourdine, J. P., Gargano, M., Harris, N. L., Matentzoglu, N., McMurry, J. A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J. P., Conlin, T., Blau, H., Baynam, G., Palmer, R., Gratian, D., Dawkins, H., Segal, M. & 49 othersJansen, A. C., Muaz, A., Chang, W. H., Bergerson, J., Laulederkind, S. J. F., Yüksel, Z., Beltran, S., Freeman, A. F., Sergouniotis, P. I., Durkin, D., Storm, A. L., Hanauer, M., Brudno, M., Bello, S. M., Sincan, M., Rageth, K., Wheeler, M. T., Oegema, R., Lourghi, H., Della Rocca, M. G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R. C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X. A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J. D., Leroux, D., Boerkoel, C. F., Klion, A., Carter, M. C., Groza, T., Smedley, D., Haendel, M., Mungall, C. & Robinson, P. N., Jan 8 2019, In : Nucleic Acids Research. 47, D1, p. D1018-D1027

Research output: Contribution to journalArticle

Knowledge Bases
Phenotype
Exome
Vocabulary
Electronic Health Records

Ten quick tips for biocuration

Tang, Y. A., Pichler, K., Füllgrabe, A., Lomax, J., Malone, J., Munoz-Torres, M. C., Vasant, D. V., Williams, E. & Haendel, M., May 1 2019, In : PLoS computational biology. 15, 5, p. e1006906

Research output: Contribution to journalArticle

Open Access
4 Citations (Scopus)

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

Undiagnosed Diseases Network, Jun 15 2018, (Accepted/In press) In : Genetics in Medicine. p. 1-12 12 p.

Research output: Contribution to journalArticle

Exome
Genome
Computational Biology
Genetic Association Studies
Phenotype