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Matchmaker Exchange
Sobreira, N. L. M.; Arachchi, H.; Buske, O. J.; Chong, J. X.; Hutton, B.; Foreman, J.; Schiettecatte, F.; Groza, T.; Jacobsen, J. O. B.; Haendel, M. A.; Boycott, K. M.; Hamosh, A.; Rehm, H. L.; Matchmaker Exchange, Consortium
Current Protocols in Human Genetics 95:9.31.1-9.31.15, 2017 10.1002/cphg.50
Initiating an undiagnosed diseases program in the Western Australian public health system
Baynam, G.; Broley, S.; Bauskis, A.; Pachter, N.; McKenzie, F.; Townshend, S.; Slee, J.; Kiraly-Borri, C.; Vasudevan, A.; Hawkins, A.; Schofield, L.; Helmholz, P.; Palmer, R.; Kung, S.; Walker, C. E.; Molster, C.; Lewis, B.; Mina, K.; Beilby, J.; Pathak, G.; Poulton, C.; Groza, T.; Zankl, A.; Roscioli, T.; Dinger, M. E.; Mattick, J. S.; Gahl, W.; Groft, S.; Tifft, C.; Taruscio, D.; Lasko, P.; Kosaki, K.; Wilhelm, H.; Melegh, B.; Carapetis, J.; Jana, S.; Chaney, G.; Johns, A.; Owen, P. W.; Daly, F.; Weeramanthri, T.; Dawkins, H.; Goldblatt, J.
Orphanet Journal of Rare Diseases 12(1):83, 2017 10.1186/s13023-017-0619-z
OpenAccess publication The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species
Mungall, C. J.; McMurry, J. A.; Kohler, S.; Balhoff, J. P.; Borromeo, C.; Brush, M.; Carbon, S.; Conlin, T.; Dunn, N.; Engelstad, M.; Foster, E.; Gourdine, J. P.; Jacobsen, J. O.; Keith, D.; Laraway, B.; Lewis, S. E.; NguyenXuan, J.; Shefchek, K.; Vasilevsky, N.; Yuan, Z.; Washington, N.; Hochheiser, H.; Groza, T.; Smedley, D.; Robinson, P. N.; Haendel, M. A.
NUCLEIC ACIDS RESEARCH 45(D1):D712-D722, 2017 10.1093/nar/gkw1128
OpenAccess publication The Human Phenotype Ontology in 2017
Kohler, S.; Vasilevsky, N. A.; Engelstad, M.; Foster, E.; McMurry, J.; Ayme, S.; Baynam, G.; Bello, S. M.; Boerkoel, C. F.; Boycott, K. M.; Brudno, M.; Buske, O. J.; Chinnery, P. F.; Cipriani, V.; Connell, L. E.; Dawkins, H. J.; DeMare, L. E.; Devereau, A. D.; de Vries, B. B.; Firth, H. V.; Freson, K.; Greene, D.; Hamosh, A.; Helbig, I.; Hum, C.; Jahn, J. A.; James, R.; Krause, R.; SJ, F. Laulederkind; Lochmuller, H.; Lyon, G. J.; Ogishima, S.; Olry, A.; Ouwehand, W. H.; Pontikos, N.; Rath, A.; Schaefer, F.; Scott, R. H.; Segal, M.; Sergouniotis, P. I.; Sever, R.; Smith, C. L.; Straub, V.; Thompson, R.; Turner, C.; Turro, E.; Veltman, M. W.; Vulliamy, T.; Yu, J.; von Ziegenweidt, J.; Zankl, A.; Zuchner, S.; Zemojtel, T.; Jacobsen, J. O.; Groza, T.; Smedley, D.; Mungall, C. J.; Haendel, M.; Robinson, P. N.
NUCLEIC ACIDS RESEARCH 45(D1):D865-D876, 2017 10.1093/nar/gkw1039
OpenAccess publication A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
Smedley, D.; Schubach, M.; Jacobsen, J. O.; Kohler, S.; Zemojtel, T.; Spielmann, M.; Jager, M.; Hochheiser, H.; Washington, N. L.; McMurry, J. A.; Haendel, M. A.; Mungall, C. J.; Lewis, S. E.; Groza, T.; Valentini, G.; Robinson, P. N.;
AMERICAN JOURNAL OF HUMAN GENETICS 99(3):595-606, 2016
OpenAccess publication Navigating the Phenotype Frontier: The Monarch Initiative
McMurry, J. A.; Kohler, S.; Washington, N. L.; Balhoff, J. P.; Borromeo, C.; Brush, M.; Carbon, S.; Conlin, T.; Dunn, N.; Engelstad, M.; Foster, E.; Gourdine, J. P.; Jacobsen, J. O.; Keith, D.; Laraway, B.; Xuan, J. N.; Shefchek, K.; Vasilevsky, N. A.; Yuan, Z.; Lewis, S. E.; Hochheiser, H.; Groza, T.; Smedley, D.; Robinson, P. N.; Mungall, C. J.; Haendel, M. A;
GENETICS 203(4):1491-5, 2016
OpenAccess publication Phenomics and its role in next generation sequencing
Groza, T.;
PATHOLOGY 48 Suppl 1:S30, 2016
OpenAccess publication A supervised approach to quantifying sentence similarity: with application to evidence based medicine
Hassanzadeh, H.; Groza, T.; Nguyen, A.; Hunter, J.;
PLoS One 10(6):e0129392, 2015
OpenAccess publication Generation of silver standard concept annotations from biomedical texts with special relevance to phenotypes
Oellrich, A.; Collier, N.; Smedley, D.; Groza, T.;
PLoS One 10(1):e0116040, 2015
OpenAccess publication Automatic concept recognition using the human phenotype ontology reference and test suite corpora
Groza, T.; Kohler, S.; Doelken, S.; Collier, N.; Oellrich, A.; Smedley, D.; Couto, F. M.; Baynam, G.; Zankl, A.; Robinson, P. N.;
Database-The Journal of Biological Databases and Curation 2015 2015
OpenAccess publication Special issue on bio-ontologies and phenotypes
Soldatova, L. N.; Collier, N.; Oellrich, A.; Groza, T.; Verspoor, K.; Rocca-Serra, P.; Dumontier, M.; Shah, N. H.;
Journal of Biomedical Semantics 6:40, 2015
OpenAccess publication The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
Groza, T.; Kohler, S.; Moldenhauer, D.; Vasilevsky, N.; Baynam, G.; Zemojtel, T.; Schriml, L. M.; Kibbe, W. A.; Schofield, P. N.; Beck, T.; Vasant, D.; Brookes, A. J.; Zankl, A.; Washington, N. L.; Mungall, C. J.; Lewis, S. E.; Haendel, M. A.; Parkinson, H.; Robinson, P. N.;
AMERICAN JOURNAL OF HUMAN GENETICS 97(1):111-24, 2015
OpenAccess publication Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery
Mungall, C. J.; Washington, N. L.; Nguyen-Xuan, J.; Condit, C.; Smedley, D.; Kohler, S.; Groza, T.; Shefchek, K.; Hochheiser, H.; Robinson, P. N.; Lewis, S. E.; Haendel, M. A.;
HUMAN MUTATION 36(10):979-84, 2015
OpenAccess publication PhenoMiner: from text to a database of phenotypes associated with OMIM diseases
Collier, N.; Groza, T.; Smedley, D.; Robinson, P. N.; Oellrich, A.; Rebholz-Schuhmann, D.;
Database-The Journal of Biological Databases and Curation 2015:1-12, 2015