Melissa Haendel
Melissa Haendel
University of North Carolina
Verified email at
Cited by
Cited by
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ...
Nucleic acids research 42 (D1), D966-D974, 2014
The human phenotype ontology in 2017
S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ...
Nucleic acids research 45 (D1), D865-D876, 2017
The human phenotype ontology in 2021
S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ...
Nucleic acids research 49 (D1), D1207-D1217, 2021
Uberon, an integrative multi-species anatomy ontology
CJ Mungall, C Torniai, GV Gkoutos, SE Lewis, MA Haendel
Genome biology 13, 1-20, 2012
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ...
Nucleic acids research 47 (D1), D1018-D1027, 2019
The Matchmaker Exchange: a platform for rare disease gene discovery
AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ...
Human mutation 36 (10), 915-921, 2015
The National COVID Cohort Collaborative (N3C): rationale, design, infrastructure, and deployment
MA Haendel, CG Chute, TD Bennett, DA Eichmann, J Guinney, WA Kibbe, ...
Journal of the American Medical Informatics Association 28 (3), 427-443, 2021
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report
100,000 Genomes Project Pilot Investigators
New England Journal of Medicine 385 (20), 1868-1880, 2021
The ontology for biomedical investigations
A Bandrowski, R Brinkman, M Brochhausen, MH Brush, B Bug, ...
PloS one 11 (4), e0154556, 2016
Improved exome prioritization of disease genes through cross-species phenotype comparison
PN Robinson, S Köhler, A Oellrich, K Wang, CJ Mungall, SE Lewis, ...
Genome research 24 (2), 340-348, 2014
OBO-Edit—an ontology editor for biologists
J Day-Richter, MA Harris, M Haendel, ...
Bioinformatics 23 (16), 2198-2200, 2007
Next-generation diagnostics and disease-gene discovery with the Exomiser
D Smedley, JOB Jacobsen, M Jäger, S Köhler, M Holtgrewe, M Schubach, ...
Nature protocols 10 (12), 2004-2015, 2015
DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system
K Yamakawa, YK Huo, MA Haendel, R Hubert, XN Chen, GE Lyons, ...
Human molecular genetics 7 (2), 227-237, 1998
The Zebrafish Information Network: the zebrafish model organism database
J Sprague, L Bayraktaroglu, D Clements, T Conlin, D Fashena, K Frazer, ...
Nucleic acids research 34 (suppl_1), D581-D585, 2006
How many rare diseases are there?
M Haendel, N Vasilevsky, D Unni, C Bologa, N Harris, H Rehm, ...
Nature reviews drug discovery 19 (2), 77-78, 2020
Linking human diseases to animal models using ontology-based phenotype annotation
NL Washington, MA Haendel, CJ Mungall, M Ashburner, M Westerfield, ...
PLoS biology 7 (11), e1000247, 2009
Integrating phenotype ontologies across multiple species
CJ Mungall, GV Gkoutos, CL Smith, MA Haendel, SE Lewis, M Ashburner
Genome biology 11, 1-16, 2010
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species
CJ Mungall, JA McMurry, S Köhler, JP Balhoff, C Borromeo, M Brush, ...
Nucleic acids research 45 (D1), D712-D722, 2017
Classification, ontology, and precision medicine
MA Haendel, CG Chute, PN Robinson
New England Journal of Medicine 379 (15), 1452-1462, 2018
A whole-genome analysis framework for effective identification of pathogenic regulatory variants in Mendelian disease
D Smedley, M Schubach, JOB Jacobsen, S Köhler, T Zemojtel, ...
The American Journal of Human Genetics 99 (3), 595-606, 2016
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