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Dr. Riazuddin has a keen interest in both anterior and posterior segment ocular dystrophies Over the years, he has collected a large cohort of multi-generational pedigrees with different inherited ocular dystrophies, each pedigree with multiple affected individuals. To identify causal mutations, his laboratory has used a systematic approach that consists of genome-wide linkage and association analyses, sequencing of candidate genes, and subsequent in vivo and in vitro functional analyses of causal alleles. More recently, their approach has also included nextgeneration DNA sequencing of captured linkage intervals, whole exomes, and genomes. These efforts have led to 70+ peer-reviewed publications. While Dr. Riazuddin has continued his work in the field of ocular genetics, he has expanded the scope of his research to investigate the pathomechanism of these diseases, especially the role of autophagy in cataractogenesis.
Ocular genetics, Autophagy in cataractogenesis
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