Melissa Haendel

Associate Professor

  • 4564 Citations
  • 36 h-Index
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Fingerprint Dive into the research topics where Melissa Haendel is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 2 Similar Profiles
Phenotype Medicine & Life Sciences
Exome Medicine & Life Sciences
Rare Diseases Medicine & Life Sciences
Genes Medicine & Life Sciences
Biological Ontologies Medicine & Life Sciences
Databases Medicine & Life Sciences
Zebrafish Medicine & Life Sciences
Anatomy Medicine & Life Sciences

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Projects 1998 2020

Research Personnel
Biological Models
Sensory Receptor Cells
Motor Neurons
Embryonic Stem Cells
Nervous System
Clone Cells

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

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

University of Washington Center for Mendelian Genomics & Undiagnosed Diseases Network, Mar 7 2019, In : American Journal of Human Genetics. 104, 3, p. 422-438 17 p.

Research output: Contribution to journalArticle

Coxa Vara
Tooth Root
Recombinational DNA Repair

Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics

Köhler, S., Øien, N. C., Buske, O. J., Groza, T., Jacobsen, J. O. B., McNamara, C., Vasilevsky, N., Carmody, L. C., Gourdine, J. P., Gargano, M., McMurry, J. A., Danis, D., Mungall, C. J., Smedley, D., Haendel, M. & Robinson, P. N., Jan 1 2019, In : Current protocols in human genetics. 103, 1, e92.

Research output: Contribution to journalArticle

Inborn Genetic Diseases
Rare Diseases
Differential Diagnosis
2 Citations (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
17 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 others, Jansen, 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
Electronic Health Records