Midori Mitui
Papers
1
Total Citations
53
H-Index
1
About
Midori Mitui is a molecular geneticist whose work has centered on the development and application of high-throughput mutation scanning technologies, particularly for large, clinically significant genes. Her most notable contribution is the refinement and application of DOVAM-S (Detection of Virtually All Mutations—SSCP), a method she used to comprehensively scan the entire coding region of the ATM gene—a daunting 66-exon behemoth with no mutation hotspots. This 2003 study, which has garnered 53 citations, was pivotal because it overcame the technical hurdles that had long hampered mutation detection at the ATM locus, enabling more reliable diagnosis of ataxia-telangiectasia and related cancer predisposition syndromes. By demonstrating a systematic approach to distinguishing true pathogenic mutations from benign polymorphisms in a gene of this size, Mitui provided a foundational protocol for genetic screening that has influenced subsequent work in cancer genetics and DNA repair disorders. Her research exemplifies the critical role of methodical, rigorous mutation analysis in translating genomic knowledge into clinical practice.
Research Focus
Key Achievements
Top Papers
- 1Comprehensive scanning of theATM gene with DOVAM-S53 citations · 2003