Melissa Haendel

Associate Professor

  • 4453 Citations
  • 36 h-Index
19962020
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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.

  • 5 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

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

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

Zebrafish
Coxa Vara
Phenotype
Tooth Root
Recombinational DNA Repair
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
12 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
Phenotype
Exome
Vocabulary
Electronic Health Records

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

Undiagnosed Diseases Network, Jun 1 2019, In : American Journal of Medical Genetics, Part A. 179, 6, p. 966-977 12 p.

Research output: Contribution to journalArticle

Neurocutaneous Syndromes
Blood Vessels
Mutation
Nervous System Malformations
Skin