Martin de Boer
Papers
1
Total Citations
27
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1
About
Martin de Boer is a leading figure in the molecular diagnostics of primary immunodeficiencies, with a particular focus on X-linked chronic granulomatous disease (CGD). His most-cited work, "Rapid Genetic Analysis of X-Linked Chronic Granulomatous Disease by High-Resolution Melting" (2010, 27 citations), introduced a streamlined, cost-effective method for detecting mutations in the CYBB gene, dramatically accelerating diagnosis for this life-threatening condition. Beyond this hallmark study, de Boer has made sustained contributions to understanding the genetic and biochemical underpinnings of phagocyte disorders, including chronic granulomatous disease and leukocyte adhesion deficiencies. His research has been instrumental in characterizing novel mutations, elucidating genotype-phenotype correlations, and developing practical diagnostic assays that are now used in clinical laboratories worldwide. With a career spanning decades, de Boer’s work has directly improved patient outcomes by enabling earlier, more accurate genetic testing. His dedication to bridging basic science and clinical application has made him a respected authority in the field of primary immunodeficiency genetics.
Research Focus
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Top Papers
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