Martin de Boer

Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease

Dirk Roos, Martin de Boer, Futoshi Kuribayashi et al. · Blood · 1996 · 422 citations

Life Sciences, Genetics, Molecular Genetics +12

Leukocyte adhesion deficiency type 1 (LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins.

Taco W. Kuijpers, René A. W. van Lier, Dörte Hamann et al. · Journal of Clinical Investigation · 1997 · 230 citations · Full text

Life Sciences, Immunology, Pathology +17

LAD-1/variant syndrome is caused by mutations in FERMT3

Taco W. Kuijpers, Edith van de Vijver, Marian A. J. Weterman et al. · Blood · 2008 · 222 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura

Willemijn B. Breunis, Edwin van Mirre, Marrie C.A. Bruin et al. · Blood · 2007 · 204 citations

Medicine, Genetics, Molecular Genetics +7

Hematologically important mutations: X-linked chronic granulomatous disease (third update)

Dirk Roos, Douglas B. Kuhns, Anne Maddalena et al. · Blood Cells Molecules and Diseases · 2010 · 198 citations · Full text

Life Sciences, Genetics, Hematology +10