| Integrative analysis of the Caenorhabditis elegans genome by the modENCODE project MB Gerstein, ZJ Lu, EL Van Nostrand, C Cheng, BI Arshinoff, T Liu, ... Science 330 (6012), 1775-1787, 2010 | 971 | 2010 |
| Autoantibodies against type I IFNs in patients with life-threatening COVID-19 P Bastard, LB Rosen, Q Zhang, E Michailidis, HH Hoffmann, Y Zhang, ... Science 370 (6515), 2020 | 962 | 2020 |
| Genomewide association study of severe Covid-19 with respiratory failure Severe Covid-19 GWAS Group New England Journal of Medicine 383 (16), 1522-1534, 2020 | 946 | 2020 |
| 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 | 919 | 2010 |
| Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Q Zhang, P Bastard, Z Liu, J Le Pen, M Moncada-Velez, J Chen, M Ogishi, ... Science 370 (6515), 2020 | 838 | 2020 |
| 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 | 325 | 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 | 268 | 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, 2017 | 193 | 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 | 185 | 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 | 167 | 2016 |
| 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 | 166 | 2015 |
| 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), 1231-1238, 2017 | 157 | 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 | 148 | 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 | 147 | 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 | 128 | 2014 |
| Emergence and rapid transmission of SARS-CoV-2 B. 1.1. 7 in the United States NL Washington, K Gangavarapu, M Zeller, A Bolze, ET Cirulli, ... Cell 184 (10), 2587-2594. e7, 2021 | 127* | 2021 |
| The Resource Identification Initiative: A cultural shift in publishing A Bandrowski, M Brush, JS Grethe, MA Haendel, DN Kennedy, S Hill, ... Neuroinformatics 14 (2), 169-182, 2016 | 121 | 2016 |
| PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases OJ Buske, M Girdea, S Dumitriu, B Gallinger, T Hartley, H Trang, ... Human mutation 36 (10), 931-940, 2015 | 101 | 2015 |
| Patterns of molecular evolution in Caenorhabditis preclude ancient origins of selfing AD Cutter, JD Wasmuth, NL Washington Genetics 178 (4), 2093-2104, 2008 | 100 | 2008 |
Melissa HaendelUniversity of Colorado Anschutz Medical CampusVerifierad e-postadress på tislab.org
