| 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, ... The Journal of Experimental Medicine 208 (8), 1635, 2011 | 876 | 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 | 546 | 2012 |
| 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 | 344 | 2015 |
| Functional STAT3 deficiency compromises the generation of human T follicular helper cells CS Ma, DT Avery, A Chan, M Batten, J Bustamante, S Boisson-Dupuis, ... Blood, The Journal of the American Society of Hematology 119 (17), 3997-4008, 2012 | 343 | 2012 |
| Induction of nuclear factor-κB and its downstream genes by TNF-α and IL-1β has a pro-apoptotic role in pancreatic beta cells F Ortis, P Pirot, N Naamane, AY Kreins, J Rasschaert, F Moore, E Theatre, ... Diabetologia 51, 1213-1225, 2008 | 216 | 2008 |
| A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome SS Kilic, M Hacimustafaoglu, S Boisson-Dupuis, AY Kreins, AV Grant, ... The Journal of pediatrics 160 (6), 1055-1057, 2012 | 115 | 2012 |
| 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 116 (26), 5895, 2010 | 106 | 2010 |
| 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 |
| Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation M Moncada-Vélez, R Martinez-Barricarte, D Bogunovic, XF Kong, ... Blood, The Journal of the American Society of Hematology 122 (14), 2390-2401, 2013 | 39 | 2013 |
| Current and future therapeutic approaches for thymic stromal cell defects AY Kreins, P Bonfanti, EG Davies Frontiers in Immunology 12, 655354, 2021 | 34 | 2021 |
| Hematopoietic stem cell transplantation positively affects the natural history of cancer in Nijmegen breakage syndrome B Wolska-Kusnierz, A Pastorczak, W Fendler, A Wakulinska, ... Clinical Cancer Research 27 (2), 575-584, 2021 | 25 | 2021 |
| Inborn errors of thymic stromal cell development and function AY Kreins, S Maio, F Dhalla Seminars in Immunopathology 43 (1), 85-100, 2021 | 22 | 2021 |
| Prospective newborn screening for SCID in Germany: a first analysis by the Pediatric Immunology Working Group (API) C Speckmann, U Nennstiel, M Hönig, MH Albert, S Ghosh, C Schuetz, ... Journal of clinical immunology 43 (5), 965-978, 2023 | 20 | 2023 |
| Expanding the nude SCID/CID phenotype associated with FOXN1 homozygous, compound heterozygous, or heterozygous mutations G Giardino, SO Sharapova, P Ciznar, F Dhalla, L Maragliano, ... Journal of Clinical Immunology 41, 756-768, 2021 | 18 | 2021 |
| Long-term immune recovery after hematopoietic stem cell transplantation for ADA deficiency: a single-center experience AY Kreins, HF Velasco, KN Cheong, K Rao, P Veys, A Worth, HB Gaspar, ... Journal of clinical immunology, 1-14, 2022 | 12 | 2022 |
| Replacing defective thymus function AY Kreins, EG Davies Current Opinion in Allergy and Clinical Immunology 20 (6), 541-548, 2020 | 12 | 2020 |
| Correction of both immunodeficiency and hypoparathyroidism by thymus transplantation in complete DiGeorge syndrome AY Kreins, F Junghanns, W Mifsud, K Somana, N Sebire, D Rampling, ... American Journal of Transplantation 20 (5), 1447-1450, 2020 | 12 | 2020 |
| Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases AT Pagnamenta, C Camps, E Giacopuzzi, JM Taylor, M Hashim, ... Genome medicine 15 (1), 94, 2023 | 10 | 2023 |
| First use of thymus transplantation in PAX1 deficiency AY Kreins, A Worth, S Ghosh, RW Mohammed, EG Davies Journal of Clinical Immunology 43 (6), 1127-1130, 2023 | 5 | 2023 |
| Congenital athymia: unmet needs and practical guidance E Howley, EG Davies, AY Kreins Therapeutics and Clinical Risk Management, 239-254, 2023 | 4 | 2023 |
