| A DNA-PKcs mutation in a radiosensitive T–B– SCID patient inhibits Artemis activation and nonhomologous end-joining M Van Der Burg, H IJspeert, NS Verkaik, T Turul, WW Wiegant, ... The Journal of clinical investigation 119 (1), 91-98, 2009 | 297 | 2009 |
| Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts R Horos, H IJspeert, D Pospisilova, R Sendtner, C Andrieu-Soler, ... Blood, The Journal of the American Society of Hematology 119 (1), 262-272, 2012 | 212 | 2012 |
| Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B-and T-cell homeostasis and reduced immune repertoire diversity GJ Driessen, H IJspeert, CMR Weemaes, Á Haraldsson, M Trip, A Warris, ... Journal of allergy and clinical immunology 131 (5), 1367-1375. e9, 2013 | 140 | 2013 |
| Adaptive antibody diversification through N-linked glycosylation of the immunoglobulin variable region FS Van De Bovenkamp, NIL Derksen, P Ooijevaar-de Heer, KA Van Schie, ... Proceedings of the National Academy of Sciences 115 (8), 1901-1906, 2018 | 124 | 2018 |
| Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations TW Kuijpers, H IJspeert, EMM van Leeuwen, MH Jansen, MD Hazenberg, ... Blood, The Journal of the American Society of Hematology 117 (22), 5892-5896, 2011 | 116 | 2011 |
| Mutations in the NHEJ component XRCC4 cause primordial dwarfism JE Murray, M Van Der Burg, H IJspeert, P Carroll, Q Wu, T Ochi, A Leitch, ... The American Journal of Human Genetics 96 (3), 412-424, 2015 | 86 | 2015 |
| Mutations affecting the actin regulator WD repeat–containing protein 1 lead to aberrant lymphoid immunity L Pfajfer, NK Mair, R Jiménez-Heredia, F Genel, N Gulez, Ö Ardeniz, ... Journal of Allergy and Clinical Immunology 142 (5), 1589-1604. e11, 2018 | 79 | 2018 |
| Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes H IJspeert, GJ Driessen, MJ Moorhouse, NG Hartwig, B Wolska-Kusnierz, ... Journal of allergy and clinical immunology 133 (4), 1124-1133. e1, 2014 | 71 | 2014 |
| Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency GJ Driessen, H IJspeert, M Wentink, HG Yntema, PM van Hagen, ... Journal of Allergy and Clinical Immunology 138 (6), 1744-1747. e5, 2016 | 65 | 2016 |
| Human IgG2‐and IgG4‐expressing memory B cells display enhanced molecular and phenotypic signs of maturity and accumulate with age BG De Jong, H IJspeert, L Marques, M Van Der Burg, JJ Van Dongen, ... Immunology and cell biology 95 (9), 744-752, 2017 | 57 | 2017 |
| Evaluation of the antigen-experienced B-cell receptor repertoire in healthy children and adults H IJspeert, PA Van Schouwenburg, D Van Zessen, I Pico-Knijnenburg, ... Frontiers in immunology 7, 410, 2016 | 56 | 2016 |
| Antigen receptor galaxy: a user-friendly, web-based tool for analysis and visualization of T and B cell receptor repertoire data H IJspeert, PA Van Schouwenburg, D van Zessen, I Pico-Knijnenburg, ... The Journal of Immunology 198 (10), 4156-4165, 2017 | 52 | 2017 |
| Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress CD Conde, ÖY Petronczki, S Baris, KL Willmann, E Girardi, E Salzer, ... The Journal of clinical investigation 129 (10), 4194-4206, 2019 | 50 | 2019 |
| CD21 and CD19 deficiency: two defects in the same complex leading to different disease modalities MWJ Wentink, AJA Lambeck, MC van Zelm, E Simons, JJM van Dongen, ... Clinical Immunology 161 (2), 120-127, 2015 | 46 | 2015 |
| Immunodeficiency in Bloom’s syndrome MHD Schoenaker, SS Henriet, J Zonderland, M van Deuren, ... Journal of Clinical Immunology 38, 35-44, 2018 | 44 | 2018 |
| Clinical Spectrum of LIG 4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalities H IJspeert, A Warris, M van der Flier, I Reisli, S Keles, S Chishimba, ... Human mutation 34 (12), 1611-1614, 2013 | 39 | 2013 |
| Identification of checkpoints in human T-cell development using severe combined immunodeficiency stem cells AS Wiekmeijer, K Pike-Overzet, H IJspeert, MH Brugman, ... Journal of Allergy and Clinical Immunology 137 (2), 517-526. e3, 2016 | 37 | 2016 |
| Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide H IJspeert, AC Lankester, JM Van den Berg, W Wiegant, MC Van Zelm, ... Genes & Immunity 12 (6), 434-444, 2011 | 37 | 2011 |
| ImmunoGlobulin galaxy (IGGalaxy) for simple determination and quantitation of immunoglobulin heavy chain rearrangements from NGS MJ Moorhouse, D van Zessen, H IJspeert, S Hiltemann, S Horsman, ... BMC immunology 15, 1-9, 2014 | 36 | 2014 |
| Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome A Janda, K Schwarz, M van der Burg, W Vach, H Ijspeert, MR Lorenz, ... Blood, The Journal of the American Society of Hematology 127 (18), 2193-2202, 2016 | 34 | 2016 |
Mirjam van der BurgLeiden University Medical Center, Dept. of Pediatrics, Laboratory for Immunology在 lumc.nl 的电子邮件经过验证
