| 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 | 2358 | 2020 |
| A three-dimensional model of human lung development and disease from pluripotent stem cells YW Chen, SX Huang, ALRT De Carvalho, SH Ho, MN Islam, S Volpi, ... Nature cell biology 19 (5), 542-549, 2017 | 574 | 2017 |
| 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 |
| 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 | 379 | 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 |
| Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells FG Lafaille, IM Pessach, SY Zhang, MJ Ciancanelli, M Herman, ... Nature 491 (7426), 769-773, 2012 | 365 | 2012 |
| Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency V Sancho-Shimizu, RP De Diego, L Lorenzo, R Halwani, A Alangari, ... The Journal of clinical investigation 121 (12), 4889-4902, 2011 | 349 | 2011 |
| Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity Y Guo, M Audry, M Ciancanelli, L Alsina, J Azevedo, M Herman, ... Journal of Experimental Medicine 208 (10), 2083-2098, 2011 | 334 | 2011 |
| 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 | 328 | 2016 |
| Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood M Herman, M Ciancanelli, YH Ou, L Lorenzo, M Klaudel-Dreszler, ... Journal of Experimental Medicine 209 (9), 1567-1582, 2012 | 297 | 2012 |
| A global effort to define the human genetics of protective immunity to SARS-CoV-2 infection JL Casanova, HC Su, L Abel, A Aiuti, S Almuhsen, AA Arias, P Bastard, ... Cell 181 (6), 1194-1199, 2020 | 276 | 2020 |
| The human gene damage index as a gene-level approach to prioritizing exome variants Y Itan, L Shang, B Boisson, E Patin, A Bolze, M Moncada-Vélez, E Scott, ... Proceedings of the National Academy of Sciences 112 (44), 13615-13620, 2015 | 271 | 2015 |
| Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency N Hernandez, I Melki, H Jing, T Habib, SSY Huang, J Danielson, T Kula, ... Journal of Experimental Medicine 215 (10), 2567-2585, 2018 | 206 | 2018 |
| Mutation of YMYL in the Nipah virus matrix protein abrogates budding and alters subcellular localization MJ Ciancanelli, CF Basler Journal of virology 80 (24), 12070-12078, 2006 | 204 | 2006 |
| Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant S Boisson-Dupuis, N Ramirez-Alejo, Z Li, E Patin, G Rao, G Kerner, ... Science immunology 3 (30), eaau8714, 2018 | 197 | 2018 |
| TLR3 immunity to infection in mice and humans SY Zhang, M Herman, MJ Ciancanelli, RP de Diego, V Sancho-Shimizu, ... Current opinion in immunology 25 (1), 19-33, 2013 | 192 | 2013 |
| Severe influenza pneumonitis in children with inherited TLR3 deficiency HK Lim, SXL Huang, J Chen, G Kerner, O Gilliaux, P Bastard, K Dobbs, ... Journal of Experimental Medicine 216 (9), 2038-2056, 2019 | 190 | 2019 |
| TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk HK Lim, M Seppänen, T Hautala, MJ Ciancanelli, Y Itan, FG Lafaille, ... Neurology 83 (21), 1888-1897, 2014 | 178 | 2014 |
| A serpin shapes the extracellular environment to prevent influenza A virus maturation M Dittmann, HH Hoffmann, MA Scull, RH Gilmore, KL Bell, M Ciancanelli, ... Cell 160 (4), 631-643, 2015 | 174 | 2015 |
| Nipah virus sequesters inactive STAT1 in the nucleus via a P gene-encoded mechanism MJ Ciancanelli, VA Volchkova, ML Shaw, VE Volchkov, CF Basler Journal of virology 83 (16), 7828-7841, 2009 | 145 | 2009 |
