Egbert Bakker
Papers
1
Total Citations
55
H-Index
1
About
Egbert Bakker has made foundational contributions to the molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD/BMD), focusing on the genetic underpinnings of these devastating neuromuscular disorders. His key research areas include mutation scanning of the dystrophin gene, particularly the detection of large rearrangements such as deletions and duplications, which account for the majority of DMD cases. Bakker’s most-cited work, a 2003 study employing denaturing gradient gel electrophoresis (DGGE) for whole-gene mutation scanning, has garnered 55 citations and remains a critical reference for identifying the 30–35% of patients with subtle or point mutations. By refining diagnostic techniques for the dystrophin gene, Bakker has enabled more precise genetic counseling and carrier detection, directly impacting clinical management of DMD/BMD. His research has illuminated the mutation spectrum in these disorders, demonstrating that while large deletions are common, a significant minority of cases require advanced scanning methods. Bakker’s work stands as a cornerstone in the field, bridging molecular genetics and patient care, and continues to guide researchers and clinicians in unraveling the complexities of dystrophinopathies.
Research Focus
Key Achievements
Top Papers
- 1