David Mansfield
Papers
2
Total Citations
161
H-Index
2
About
David Mansfield is a geneticist whose work has advanced the mapping and diagnosis of inherited eye disorders and the automation of genetic analysis. His research focuses on the molecular genetics of familial exudative vitreoretinopathy (FEVR), a condition that can cause progressive vision loss. In a landmark 2001 study, Mansfield identified a novel locus for autosomal dominant FEVR on chromosome 11p12-13, a finding that has been cited over 80 times and remains foundational for understanding the genetic heterogeneity of the disease. Earlier, in 1994, he contributed to a methodological breakthrough by developing an automated system for genetic linkage analysis using fluorescent microsatellite markers. This work, also cited 80 times, streamlined the process of mapping disease genes, replacing labor-intensive radioactive methods and accelerating the pace of discovery in human genetics. Mansfield’s contributions have not only illuminated the genetic basis of FEVR but also provided tools that have been widely adopted in genomics, making him a key figure in both clinical and computational genetics.
Research Focus
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