Arlene Buller
Papers
1
Total Citations
6
H-Index
1
About
Arlene Buller is a researcher whose work has significantly advanced the understanding and clinical detection of rare genetic disorders, particularly within the Ashkenazi Jewish population. Her key research areas include molecular genetics, carrier screening, and the development of rapid diagnostic assays for lysosomal storage diseases. Buller’s most notable contribution is the development of a rapid, one-step carrier detection assay for Mucolipidosis IV (MLIV) mutations, a severe neurodegenerative disorder. This assay, described in her 2006 paper with 6 citations, streamlined the identification of carriers, enabling more efficient genetic counseling and risk assessment. While her citation count reflects a focused, niche impact, her work has been instrumental in improving prenatal and carrier testing protocols, directly aiding clinical genetics practice. Buller’s contributions underscore the importance of targeted, population-specific research in making genetic testing accessible and accurate, ultimately helping to reduce the burden of inherited diseases in high-risk communities.
Research Focus
Key Achievements
Top Papers
- 1