| Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4 HS Kuehn, W Ouyang, B Lo, EK Deenick, JE Niemela, DT Avery, ... Science 345 (6204), 1623-1627, 2014 | 937 | 2014 |
| Dominant-activating germline mutations in the gene encoding the PI (3) K catalytic subunit p110δ result in T cell senescence and human immunodeficiency CL Lucas, HS Kuehn, F Zhao, JE Niemela, EK Deenick, U Palendira, ... Nature immunology 15 (1), 88-97, 2014 | 828 | 2014 |
| Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations JD Milner, TP Vogel, L Forbes, CA Ma, A Stray-Pedersen, JE Niemela, ... Blood, The Journal of the American Society of Hematology 125 (4), 591-599, 2015 | 595 | 2015 |
| 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 | 374 | 2015 |
| Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy EMN Ferre, SR Rose, SD Rosenzweig, PD Burbelo, KR Romito, ... JCI insight 1 (13), 2016 | 308 | 2016 |
| NRAS mutation causes a human autoimmune lymphoproliferative syndrome JB Oliveira, N Bidère, JE Niemela, L Zheng, K Sakai, CP Nix, RL Danner, ... Proceedings of the National Academy of Sciences 104 (21), 8953-8958, 2007 | 288 | 2007 |
| Loss of B cells in patients with heterozygous mutations in IKAROS HS Kuehn, B Boisson, C Cunningham-Rundles, J Reichenbach, ... New England Journal of Medicine 374 (11), 1032-1043, 2016 | 265 | 2016 |
| Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations S Price, PA Shaw, A Seitz, G Joshi, J Davis, JE Niemela, K Perkins, ... Blood, The Journal of the American Society of Hematology 123 (13), 1989-1999, 2014 | 248 | 2014 |
| Germline hypomorphic CARD11 mutations in severe atopic disease CA Ma, JR Stinson, Y Zhang, JK Abbott, MA Weinreich, PJ Hauk, ... Nature genetics 49 (8), 1192-1201, 2017 | 221 | 2017 |
| Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility MC Crank, JK Grossman, S Moir, S Pittaluga, CM Buckner, L Kardava, ... Journal of clinical immunology 34, 272-276, 2014 | 191 | 2014 |
| Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis JE Niemela, L Lu, TA Fleisher, J Davis, I Caminha, M Natter, LA Beer, ... Blood, The Journal of the American Society of Hematology 117 (10), 2883-2886, 2011 | 188 | 2011 |
| Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome KC Dowdell, JE Niemela, S Price, J Davis, RL Hornung, JB Oliveira, ... Blood, The Journal of the American Society of Hematology 115 (25), 5164-5169, 2010 | 178 | 2010 |
| Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome I Maric, S Pittaluga, JK Dale, JE Niemela, G Delsol, J Diment, J Rosai, ... The American journal of surgical pathology 29 (7), 903-911, 2005 | 176 | 2005 |
| Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay O Jirapongsananuruk, HL Malech, DB Kuhns, JE Niemela, MR Brown, ... Journal of allergy and clinical immunology 111 (2), 374-379, 2003 | 170 | 2003 |
| Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency D Boutboul, HS Kuehn, Z Van de Wyngaert, JE Niemela, I Callebaut, ... The Journal of clinical investigation 128 (7), 3071-3087, 2018 | 156 | 2018 |
| Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans HS Kuehn, JE Niemela, A Rangel-Santos, M Zhang, S Pittaluga, ... Blood, The Journal of the American Society of Hematology 121 (16), 3117-3125, 2013 | 149 | 2013 |
| Hypomorphic Rag mutations can cause destructive midline granulomatous disease SS De Ravin, EW Cowen, KA Zarember, NL Whiting-Theobald, DB Kuhns, ... Blood, The Journal of the American Society of Hematology 116 (8), 1263-1271, 2010 | 134 | 2010 |
| Human nuclear factor κB essential modulator mutation can result in immunodeficiency without ectodermal dysplasia JS Orange, O Levy, SR Brodeur, K Krzewski, RM Roy, JE Niemela, ... Journal of allergy and clinical immunology 114 (3), 650-656, 2004 | 126 | 2004 |
| Targeted NGS: a cost-effective approach to molecular diagnosis of PIDs JL Stoddard, JE Niemela, TA Fleisher, SD Rosenzweig Frontiers in immunology 5, 531, 2014 | 123 | 2014 |
| Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome I Caminha, TA Fleisher, RL Hornung, JK Dale, JE Niemela, S Price, ... Journal of allergy and clinical immunology 125 (4), 946-949. e6, 2010 | 119 | 2010 |