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 | 2518 | 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 | 2179 | 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 | 1929 | 2020 |
Uncovering the roles of rare variants in common disease through whole-genome sequencing ET Cirulli, DB Goldstein Nature Reviews Genetics 11 (6), 415-425, 2010 | 1468 | 2010 |
Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence JE Savage, PR Jansen, S Stringer, K Watanabe, J Bryois, CA De Leeuw, ... Nature genetics 50 (7), 912-919, 2018 | 1098 | 2018 |
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways ET Cirulli, BN Lasseigne, S Petrovski, PC Sapp, PA Dion, CS Leblond, ... Science 347 (6229), 1436-1441, 2015 | 998 | 2015 |
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 | 740 | 2021 |
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis CH Wu, C Fallini, N Ticozzi, PJ Keagle, PC Sapp, K Piotrowska, P Lowe, ... Nature 488 (7412), 499-503, 2012 | 730 | 2012 |
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function G Davies, M Lam, SE Harris, JW Trampush, M Luciano, WD Hill, ... Nature communications 9 (1), 2098, 2018 | 644 | 2018 |
Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1267-1288, 2018 | 593 | 2018 |
Common genetic variation and the control of HIV-1 in humans J Fellay, D Ge, KV Shianna, S Colombo, B Ledergerber, ET Cirulli, ... PLoS genetics 5 (12), e1000791, 2009 | 475 | 2009 |
Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions MJ Ombrello, EF Remmers, G Sun, AF Freeman, S Datta, P Torabi-Parizi, ... New England Journal of Medicine 366 (4), 330-338, 2012 | 439 | 2012 |
Profound perturbation of the metabolome in obesity is associated with health risk ET Cirulli, L Guo, CL Swisher, N Shah, L Huang, LA Napier, EF Kirkness, ... Cell metabolism 29 (2), 488-500. e2, 2019 | 286 | 2019 |
GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium JW Trampush, MLZ Yang, J Yu, E Knowles, G Davies, DC Liewald, ... Molecular psychiatry 22 (3), 336-345, 2017 | 283 | 2017 |
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 | 278 | 2022 |
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 | 274 | 2021 |
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene NLM Sobreira, ET Cirulli, D Avramopoulos, E Wohler, GL Oswald, ... PLoS genetics 6 (6), e1000991, 2010 | 242 | 2010 |
Association of liver injury from specific drugs, or groups of drugs, with polymorphisms in HLA and other genes in a genome-wide association study P Nicoletti, GP Aithal, ES Bjornsson, RJ Andrade, A Sawle, M Arrese, ... Gastroenterology 152 (5), 1078-1089, 2017 | 224 | 2017 |
The characterization of twenty sequenced human genomes K Pelak, KV Shianna, D Ge, JM Maia, M Zhu, JP Smith, ET Cirulli, J Fellay, ... PLoS genetics 6 (9), e1001111, 2010 | 199 | 2010 |
A comparison of the Cambridge Automated Neuropsychological Test Battery (CANTAB) with “traditional” neuropsychological testing instruments PJ Smith, AC Need, ET Cirulli, O Chiba-Falek, DK Attix Journal of clinical and experimental neuropsychology 35 (3), 319-328, 2013 | 198 | 2013 |