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| Identification of functional elements and regulatory circuits by Drosophila modENCODE S Roy, J Ernst, PV Kharchenko, P Kheradpour, N Negre, ML Eaton, ... Science 330 (6012), 1787, 2010 | 895 | 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 biology 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 |
| 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, 2016 | 171 | 2016 |
| 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 | 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 |
| 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 |
| Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium TF Meehan, N Conte, DB West, JO Jacobsen, J Mason, J Warren, ... Nature genetics 49 (8), 1231, 2017 | 142 | 2017 |
| FER-1 regulates Ca2+-mediated membrane fusion during C. elegans spermatogenesis NL Washington, S Ward Journal of cell science 119 (12), 2552-2562, 2006 | 142 | 2006 |
| modMine: flexible access to modENCODE data S Contrino, RN Smith, D Butano, A Carr, F Hu, R Lyne, K Rutherford, ... Nucleic Acids Research, 2011 | 140 | 2011 |
| Deletions of chromosomal regulatory boundaries are associated with congenital disease J Ibn-Salem, S Köhler, MI Love, HR Chung, N Huang, ME Hurles, ... Genome Biology 15, 423, 2014 | 120 | 2014 |
| The Resource Identification Initiative: A cultural shift in publishing A Bandrowski, M Brush, JS Grethe, MA Haendel, DN Kennedy, S Hill, ... Journal of Comparative Neurology 524 (1), 8-22, 2016 | 107 | 2016 |
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| Patterns of molecular evolution in Caenorhabditis preclude ancient origins of selfing AD Cutter, JD Wasmuth, NL Washington Genetics 178 (4), 2093-2104, 2008 | 98 | 2008 |
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| Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research S Köhler, SC Doelken, BJ Ruef, S Bauer, N Washington, M Westerfield, ... F1000Research 2, 2013 | 80 | 2013 |
| Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency WP Bone, NL Washington, OJ Buske, DR Adams, J Davis, D Draper, ... Genetics in Medicine 18 (6), 608, 2016 | 79 | 2016 |
| Identifiers for the 21st century: How to design, provision, and reuse persistent identifiers to maximize utility and impact of life science data JA McMurry, N Juty, N Blomberg, T Burdett, T Conlin, N Conte, M Courtot, ... PLoS biology 15 (6), e2001414, 2017 | 78 | 2017 |
Christopher J MungallLawrence Berkeley National LaboratoryVerifierad e-postadress på lbl.gov
