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| Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis L Liu, S Okada, XF Kong, AY Kreins, S Cypowyj, A Abhyankar, J Toubiana, ... Journal of Experimental Medicine 208 (8), 1635-1648, 2011 | 916 | 2011 |
| 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 | 844 | 2021 |
| Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants A Belkadi, A Bolze, Y Itan, A Cobat, QB Vincent, A Antipenko, L Shang, ... Proceedings of the National Academy of Sciences 112 (17), 5473-5478, 2015 | 761 | 2015 |
| The origins of lactase persistence in Europe Y Itan, A Powell, MA Beaumont, J Burger, MG Thomas PLoS computational biology 5 (8), e1000491, 2009 | 693 | 2009 |
| Lactose digestion and the evolutionary genetics of lactase persistence CJE Ingram, CA Mulcare, Y Itan, MG Thomas, DM Swallow Human genetics 124, 579-591, 2009 | 630 | 2009 |
| Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation X Zhang, D Bogunovic, B Payelle-Brogard, V Francois-Newton, SD Speer, ... Nature 517 (7532), 89-93, 2015 | 564 | 2015 |
| Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, J Manry, ... Science immunology 6 (62), eabl4340, 2021 | 542 | 2021 |
| Evolution of lactase persistence: an example of human niche construction P Gerbault, A Liebert, Y Itan, A Powell, M Currat, J Burger, DM Swallow, ... Philosophical Transactions of the Royal Society B: Biological Sciences 366 …, 2011 | 539 | 2011 |
| Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency MJ Ciancanelli, SXL Huang, P Luthra, H Garner, Y Itan, S Volpi, ... Science 348 (6233), 448-453, 2015 | 504 | 2015 |
| A worldwide correlation of lactase persistence phenotype and genotypes Y Itan, BL Jones, CJE Ingram, DM Swallow, MG Thomas BMC evolutionary biology 10, 1-11, 2010 | 456 | 2010 |
| Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations S Okada, JG Markle, EK Deenick, F Mele, D Averbuch, M Lagos, ... Science 349 (6248), 606-613, 2015 | 441 | 2015 |
| X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19 T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ... Science immunology 6 (62), eabl4348, 2021 | 388 | 2021 |
| Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery EM Scott, A Halees, Y Itan, EG Spencer, Y He, MA Azab, SB Gabriel, ... Nature genetics 48 (9), 1071-1076, 2016 | 380 | 2016 |
| Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome AY Kreins, MJ Ciancanelli, S Okada, XF Kong, N Ramírez-Alejo, SS Kilic, ... Journal of Experimental Medicine 212 (10), 1641-1662, 2015 | 375 | 2015 |
| The mutation significance cutoff: gene-level thresholds for variant predictions Y Itan, L Shang, B Boisson, MJ Ciancanelli, JG Markle, ... Nature methods 13 (2), 109-110, 2016 | 329 | 2016 |
| Modeling recent human evolution in mice by expression of a selected EDAR variant YG Kamberov, S Wang, J Tan, P Gerbault, A Wark, L Tan, Y Yang, S Li, ... Cell 152 (4), 691-702, 2013 | 316 | 2013 |
| Whole-genome sequencing reveals host factors underlying critical COVID-19 A Kousathanas, E Pairo-Castineira, K Rawlik, A Stuckey, CA Odhams, ... Nature 607 (7917), 97-103, 2022 | 306 | 2022 |
| Genomic signatures of selective pressures and introgression from archaic hominins at human innate immunity genes M Deschamps, G Laval, M Fagny, Y Itan, L Abel, JL Casanova, E Patin, ... The American Journal of Human Genetics 98 (1), 5-21, 2016 | 297 | 2016 |
