Melissa Haendel

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Christopher J MungallLawrence Berkeley National LaboratoryVerified email at lbl.gov
Peter RobinsonProfessor of Computational Biology, The Jackson Laboratory for Genomic MedicineVerified email at jax.org
Nicole VasilevskyOregon Health & Science UniversityVerified email at ohsu.edu
Suzanna LewisLawrence Berkeley National LaboratoryVerified email at lbl.gov
Sebastian KöhlerSenior Information Architect, Ada Health; Member of Monarch InitiativeVerified email at ada.com
Nicole L WashingtonHelixVerified email at helix.com
Damian SmedleyQueen Mary University of LondonVerified email at qmul.ac.uk
Carlo TorniaiOregon Health & Science University, University of Southern California, Tesla, Pirelli,Verified email at fifa.org
Paula M. MabeeBattelle, National Ecological Observatory Network (NEON)Verified email at battelleecology.org
Tudor GrozaPryzm HealthVerified email at pryzm.health
Tomasz ZemojtelHead of Genomics Platform, Berlin Institute of Health, University Clinics ChariteVerified email at bihealth.de
James P. BalhoffRenaissance Computing Institute (RENCI), University of North Carolina at Chapel HillVerified email at renci.org
David Osumi-SutherlandEuropean Bioinformatics InstituteVerified email at ebi.ac.uk
Wasila DahdulUniversity California, IrvineVerified email at uci.edu
Alexander D. DiehlAssociate Professor of Biomedical Informatics, University at BuffaloVerified email at buffalo.edu
Harry HochheiserAssociate Professor of Biomedical Informatics, University of PittsburghVerified email at pitt.edu
Anika OellrichKing's College LondonVerified email at kcl.ac.uk
Orion BuskePhenoTipsVerified email at cs.toronto.edu
Hilmar LappDirector of Informatics, Center for Genomic and Computational Biology, Duke UniversityVerified email at duke.edu
Judith BlakeProfessor of Mammalian GeneticsVerified email at jax.org

Melissa Haendel

Oregon State University & OHSU

Verified email at tislab.org

disease discovery data standards ontologies research reproducibility open science


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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	739	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	542	2017
Uberon, an integrative multi-species anatomy ontology CJ Mungall, C Torniai, GV Gkoutos, SE Lewis, MA Haendel Genome biology 13 (1), 1-20, 2012	460	2012
OBO-Edit—an ontology editor for biologists J Day-Richter, MA Harris, M Haendel, ... Bioinformatics 23 (16), 2198-2200, 2007	318	2007
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	303	2019
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	303	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	295	2006
Integrating phenotype ontologies across multiple species CJ Mungall, GV Gkoutos, CL Smith, MA Haendel, SE Lewis, M Ashburner Genome biology 11 (1), 1-16, 2010	290	2010
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	288	2015
Linking human diseases to animal models using ontology-based phenotype annotation NL Washington, MA Haendel, CJ Mungall, M Ashburner, M Westerfield, ... PLoS Biol 7 (11), e1000247, 2009	280	2009
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	251	2014
On the reproducibility of science: unique identification of research resources in the biomedical literature NA Vasilevsky, MH Brush, H Paddock, L Ponting, SJ Tripathy, ... PeerJ 1, e148, 2013	215	2013
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome T Zemojtel, S Köhler, L Mackenroth, M Jäger, J Hecht, P Krawitz, ... Science translational medicine 6 (252), 252ra123-252ra123, 2014	196	2014
The ontology for biomedical investigations A Bandrowski, R Brinkman, M Brochhausen, MH Brush, B Bug, ... PloS one 11 (4), e0154556, 2016	190	2016
Finding our way through phenotypes AR Deans, SE Lewis, E Huala, SS Anzaldo, M Ashburner, JP Balhoff, ... PLoS Biol 13 (1), e1002033, 2015	177	2015
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	171	2017
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	159	2015
The human phenotype ontology: semantic unification of common and rare disease T Groza, S Köhler, D Moldenhauer, N Vasilevsky, G Baynam, T Zemojtel, ... The American Journal of Human Genetics 97 (1), 111-124, 2015	157	2015
The Zebrafish Information Network: the zebrafish model organism database provides expanded support for genotypes and phenotypes J Sprague, L Bayraktaroglu, Y Bradford, T Conlin, N Dunn, D Fashena, ... Nucleic acids research 36 (suppl_1), D768-D772, 2007	151	2007
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	149	2016

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