Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice L Wang, D Aschenbrenner, Z Zeng, X Cao, D Mayr, M Mehta, M Capitani, ... Nature genetics 53 (4), 500-510, 2021 | 62 | 2021 |
Genomic spectrum and phenotypic heterogeneity of human IL-21 receptor deficiency D Cagdas, D Mayr, S Baris, L Worley, DB Langley, A Metin, ES Aytekin, ... Journal of clinical immunology 41 (6), 1272-1290, 2021 | 26 | 2021 |
Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation T Shahin, D Mayr, MR Shoeb, HS Kuehn, B Hoeger, S Giuliani, ... Blood advances 6 (7), 2444-2451, 2022 | 23 | 2022 |
Curation and Expansion of Human Phenotype Ontology for Inborn Errors of Immunity J Pazmandi, M Haimel, D Mayr, J Berner, RJ Heredia, J Dmytrus, S Bal, ... Journal Of Clinical Immunology 42 (SUPPL 1), S109-S110, 2022 | | 2022 |