Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation DR Ambruso, C Knall, AN Abell, J Panepinto, A Kurkchubasche, ... Proceedings of the National Academy of Sciences 97 (9), 4654-4659, 2000 | 526 | 2000 |
Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease HMP D Roos, M de Boer, F Kuribayashi, C Meischl, R S Weening, A W Segal, A ... Blood 87 (5), 1663-81, 1996 | 491* | 1996 |
Leukocyte adhesion deficiency type 1 (LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins. TW Kuijpers, RA Van Lier, D Hamann, M de Boer, LY Thung, RS Weening, ... The Journal of clinical investigation 100 (7), 1725-1733, 1997 | 293 | 1997 |
LAD-1/variant syndrome is caused by mutations in FERMT3 TW Kuijpers, E van de Vijver, MAJ Weterman, M de Boer, ATJ Tool, ... Blood, The Journal of the American Society of Hematology 113 (19), 4740-4746, 2009 | 252 | 2009 |
Hematologically important mutations: X-linked chronic granulomatous disease (third update) D Roos, DB Kuhns, A Maddalena, J Roesler, JA Lopez, T Ariga, T Avcin, ... Blood Cells, Molecules, and Diseases 45 (3), 246-265, 2010 | 249 | 2010 |
Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura WB Breunis, E van Mirre, M Bruin, J Geissler, M de Boer, M Peters, ... Blood, The Journal of the American Society of Hematology 111 (3), 1029-1038, 2008 | 244 | 2008 |
[8] Purification and cryopreservation of phagocytes from human blood D Roos, M de Boer Methods in enzymology 132, 225-243, 1986 | 217 | 1986 |
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients MY Köker, Y Camcıoğlu, K Van Leeuwen, SŞ Kılıç, I Barlan, M Yılmaz, ... Journal of allergy and clinical immunology 132 (5), 1156-1163. e5, 2013 | 211 | 2013 |
Molecular diagnosis of chronic granulomatous disease D Roos, M Boer Clinical & Experimental Immunology 175 (2), 139-149, 2014 | 193 | 2014 |
Hematologically important mutations: leukocyte adhesion deficiency (first update) E Van De Vijver, A Maddalena, Ö Sanal, SM Holland, G Uzel, ... Blood Cells, Molecules, and Diseases 48 (1), 53-61, 2012 | 193 | 2012 |
Copy number variation at the FCGR locus includes FCGR3A, FCGR2C and FCGR3B but not FCGR2A and FCGR2B WB Breunis, E van Mirre, J Geissler, N Laddach, G Wolbink, ... Human mutation 30 (5), E640-E650, 2009 | 187 | 2009 |
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update) D Roos, DB Kuhns, A Maddalena, J Bustamante, C Kannengiesser, ... Blood Cells, Molecules, and Diseases 44 (4), 291-299, 2010 | 186 | 2010 |
INTERACTION BETWEEN HUMAN NEUTROPHILS AND ZYMOSAN OF OPSONINS AND DIVALENT CATIONS MDEBANDMRD DIRK ROOS,' ANNET A.M. BOT, MARGRIET L.J. VAN SCHAIK THE JOURNAL OF IMMUNOLOGY 125, 433-440, 1981 | 156* | 1981 |
Evidence consistent with human L1 retrotransposition in maternal meiosis I B Brouha, C Meischl, E Ostertag, M De Boer, Y Zhang, H Neijens, D Roos, ... The American Journal of Human Genetics 71 (2), 327-336, 2002 | 147 | 2002 |
Phenotypic variation in IgG receptors by nonclassical FCGR2C alleles J Van der Heijden, WB Breunis, J Geissler, M de Boer, TK van den Berg, ... The Journal of Immunology 188 (3), 1318-1324, 2012 | 141 | 2012 |
Specific leukotriene formation by purified human eosinophils and neutrophils J Verhagen, PLB Bruynzeel, JA Koedam, G Aryan Wassink, M de Boer, ... FEBS letters 168 (1), 23-28, 1984 | 137 | 1984 |
Point mutations in the β-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease BGJM Bolscher, M de Boer, A de Klein, RS Weening, D Roos Blood 77 (11), 2482-2487, 1991 | 134 | 1991 |
Metabolic comparison between basophils and other leukocytes from human blood. M De Boer, D Roos Journal of immunology (Baltimore, Md.: 1950) 136 (9), 3447-3454, 1986 | 129 | 1986 |
Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency TW Kuijpers, ATJ Tool, I van der Bijl, M de Boer, M Van Houdt, ... Journal of Allergy and Clinical Immunology 140 (1), 273-277. e10, 2017 | 128 | 2017 |
A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease C Meischl, M de Boer, A Åhlin, D Roos European Journal of Human Genetics 8 (9), 697-703, 2000 | 124 | 2000 |