| 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 | 398 | 2015 |
| Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis DP Gale, EG De Jorge, HT Cook, R Martinez-Barricarte, A Hadjisavvas, ... The Lancet 376 (9743), 794-801, 2010 | 360 | 2010 |
| Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains MC Pickering, EG de Jorge, R Martinez-Barricarte, S Recalde, ... The Journal of experimental medicine 204 (6), 1249-1256, 2007 | 330 | 2007 |
| 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 | 317 | 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 | 273 | 2016 |
| Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation R Martínez-Barricarte, M Heurich, F Valdes-Cańedo, E Vazquez-Martul, ... The Journal of clinical investigation 120 (10), 3702-3712, 2010 | 251 | 2010 |
| Characterization of complement factor H–related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome C Abarrategui-Garrido, R Martínez-Barricarte, M López-Trascasa, ... Blood, The Journal of the American Society of Hematology 114 (19), 4261-4271, 2009 | 240 | 2009 |
| Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk M Heurich, R Martínez-Barricarte, NJ Francis, DL Roberts, ... Proceedings of the National Academy of Sciences 108 (21), 8761-8766, 2011 | 239 | 2011 |
| 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 | 236 | 2015 |
| C3 glomerulopathy–associated CFHR1 mutation alters FHR oligomerization and complement regulation A Tortajada, H Yébenes, C Abarrategui-Garrido, J Anter, ... The Journal of Clinical Investigation, 2434-2446, 2013 | 201 | 2013 |
| 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 | 174 | 2019 |
| 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 | 161 | 2018 |
| 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 | 161 | 2018 |
| The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity A Tortajada, T Montes, R Martı́nez-Barricarte, BP Morgan, CL Harris, ... Human molecular genetics 18 (18), 3452-3461, 2009 | 147 | 2009 |
| Complement factor H is expressed in adipose tissue in association with insulin resistance JM Moreno-Navarrete, R Martínez-Barricarte, V Catalán, M Sabater, ... Diabetes 59 (1), 200-209, 2010 | 111 | 2010 |
| Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity JM Torres, R Martinez-Barricarte, S García-Gómez, MS Mazariegos, Y Itan, ... The Journal of clinical investigation 124 (12), 5239-5248, 2014 | 110 | 2014 |
| 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 | 93 | 2018 |
| The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome R Martinez-Barricarte, G Pianetti, R Gautard, J Misselwitz, L Strain, ... Journal of the American Society of Nephrology: JASN 19 (3), 639, 2008 | 93 | 2008 |
| Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets CS Ma, N Wong, G Rao, A Nguyen, DT Avery, K Payne, J Torpy, ... Journal of Experimental Medicine 213 (8), 1589-1608, 2016 | 91 | 2016 |
| Inherited human IFN-γ deficiency underlies mycobacterial disease G Kerner, J Rosain, A Guérin, A Al-Khabaz, C Oleaga-Quintas, ... The Journal of clinical investigation 130 (6), 3158-3171, 2020 | 90 | 2020 |
