| 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 | 898 | 2011 |
| IRF8 mutations and human dendritic-cell immunodeficiency S Hambleton, S Salem, J Bustamante, V Bigley, S Boisson-Dupuis, ... New England Journal of Medicine 365 (2), 127-138, 2011 | 675 | 2011 |
| Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency D Bogunovic, M Byun, LA Durfee, A Abhyankar, O Sanal, D Mansouri, ... Science 337 (6102), 1684-1688, 2012 | 560 | 2012 |
| Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries L De Beaucoudrey, A Samarina, J Bustamante, A Cobat, ... Medicine 89 (6), 381-402, 2010 | 450 | 2010 |
| 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 | 360 | 2015 |
| Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes S Boisson-Dupuis, XF Kong, S Okada, S Cypowyj, A Puel, L Abel, ... Current opinion in immunology 24 (4), 364-378, 2012 | 311 | 2012 |
| 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 | 262 | 2015 |
| A partial form of recessive STAT1 deficiency in humans A Chapgier, XF Kong, S Boisson-Dupuis, E Jouanguy, D Averbuch, ... The Journal of clinical investigation 119 (6), 1502-1514, 2009 | 203 | 2009 |
| Mendelian susceptibility to mycobacterial disease: 2014–2018 update J Rosain, XF Kong, R Martinez‐Barricarte, C Oleaga‐Quintas, ... Immunology and cell biology 97 (4), 360-367, 2019 | 196 | 2019 |
| Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23 R Martínez-Barricarte, JG Markle, CS Ma, EK Deenick, N Ramírez-Alejo, ... Science immunology 3 (30), eaau6759, 2018 | 180 | 2018 |
| Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds I Sologuren, S Boisson-Dupuis, J Pestano, QB Vincent, ... Human molecular genetics 20 (8), 1509-1523, 2011 | 127 | 2011 |
| A novel form of human STAT1 deficiency impairing early but not late responses to interferons XF Kong, M Ciancanelli, S Al-Hajjar, L Alsina, T Zumwalt, J Bustamante, ... Blood, The Journal of the American Society of Hematology 116 (26), 5895-5906, 2010 | 106 | 2010 |
| Individuals with Down syndrome hospitalized with COVID-19 have more severe disease L Malle, C Gao, C Hur, HQ Truong, NM Bouvier, B Percha, XF Kong, ... Genetics in Medicine 23 (3), 576-580, 2021 | 104 | 2021 |
| Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency XF Kong, R Martinez-Barricarte, J Kennedy, F Mele, T Lazarov, ... Nature immunology 19 (9), 973-985, 2018 | 103 | 2018 |
| Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations XH Li, Y Lu, Y Ling, QC Fu, J Xu, GQ Zang, F Zhou, Y De-Min, Y Han, ... BMC medical genetics 12, 1-13, 2011 | 93 | 2011 |
| Anti–IFN-γ autoantibodies are strongly associated with HLA-DR* 15: 02/16: 02 and HLA-DQ* 05: 01/05: 02 across Southeast Asia CL Ku, CH Lin, SW Chang, CC Chu, JFW Chan, XF Kong, CH Lee, ... Journal of Allergy and Clinical Immunology 137 (3), 945-948. e8, 2016 | 85 | 2016 |
| Dominant‐negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease M Tsumura, S Okada, H Sakai, S Yasunaga, M Ohtsubo, T Murata, ... Human mutation 33 (9), 1377-1387, 2012 | 85 | 2012 |
| Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis Y Mizoguchi, M Tsumura, S Okada, O Hirata, S Minegishi, K Imai, ... Journal of leukocyte biology 95 (4), 667-676, 2014 | 83 | 2014 |
| Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease XF Kong, G Vogt, Y Itan, A Macura-Biegun, A Szaflarska, D Kowalczyk, ... Human molecular genetics 22 (4), 769-781, 2013 | 73 | 2013 |
| Three copies of four interferon receptor genes underlie a mild type I interferonopathy in Down syndrome XF Kong, L Worley, D Rinchai, V Bondet, PV Jithesh, M Goulet, ... Journal of clinical immunology 40, 807-819, 2020 | 55 | 2020 |
Jean-Laurent Casanova, MD, PhDProfessor, Rockefeller University; Investigator, Howard Hughes Medical Institute; Head, St. Giles在 rockefeller.edu 的电子邮件经过验证
