| 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), eabd4585, 2020 | 2771 | 2020 |
| 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), eabd4570, 2020 | 2374 | 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 | 2049 | 2020 |
| 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 | 1159 | 2010 |
| 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 | 1113 | 2010 |
| Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021 | 855 | 2021 |
| 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 | 524 | 2015 |
| 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 | 402 | 2021 |
| 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 | 401 | 2015 |
| 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 | 398 | 2014 |
| Wastewater sequencing reveals early cryptic SARS-CoV-2 variant transmission S Karthikeyan, JI Levy, P De Hoff, G Humphrey, A Birmingham, K Jepsen, ... Nature 609 (7925), 101-108, 2022 | 377 | 2022 |
| 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 | 323 | 2017 |
| 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 | 318 | 2016 |
| 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 | 314 | 2009 |
| 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 | 245 | 2017 |
| 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 | 239 | 2015 |
| The Resource Identification Initiative: A cultural shift in publishing A Bandrowski, M Brush, JS Grethe, MA Haendel, DN Kennedy, S Hill, ... Neuroinformatics 14, 169-182, 2016 | 189 | 2016 |
| Population genetic screening efficiently identifies carriers of autosomal dominant diseases JJ Grzymski, G Elhanan, JA Morales Rosado, E Smith, KA Schlauch, ... Nature medicine 26 (8), 1235-1239, 2020 | 187 | 2020 |
| 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 | 187 | 2014 |
| Long-term COVID-19 symptoms in a large unselected population ET Cirulli, KM Schiabor Barrett, S Riffle, A Bolze, I Neveux, S Dabe, ... medrxiv, 2020.10. 07.20208702, 2020 | 186 | 2020 |
Melissa HaendelUniversity of North CarolinaVerified email at tislab.org
