Melissa Haendel

Associate Professor

  • 4746 Citations
  • 37 h-Index
19962020
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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

Data-driven method to enhance craniofacial and oral phenotype vocabularies

Mishra, R., Burke, A., Gitman, B., Verma, P., Engelstad, M., Haendel, M. A., Alevizos, I., Gahl, W. A., Collins, M. T., Lee, J. S. & Sincan, M., Nov 2019, In : Journal of the American Dental Association. 150, 11, p. 933-939.e2

Research output: Contribution to journalArticle

Vocabulary
Phenotype
Natural Language Processing
Tooth
Electronic Health Records

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

Phenotype
Inborn Genetic Diseases
Exome
Rare Diseases
Differential Diagnosis
3 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
Hypertrichosis
Genes
Exome
Eyebrows