Leonidas A. Phylactou - Genetic Mutations

Author Information

Leonidas A. Phylactou is a distinguished researcher affiliated with The Cyprus Institute of Neurology & Genetics, located in Nicosia, Cyprus. His research primarily focuses on genetics, with significant contributions to the understanding of muscular dystrophies, cystic fibrosis, and related genetic disorders. His work incorporates cutting-edge techniques, such as small-RNA next-generation sequencing, to explore and identify biomarkers for rare diseases.

Research Contributions

Leonidas A. Phylactou has made substantial contributions to the field of genetics, particularly in the study of muscular dystrophy and cystic fibrosis. In 2022, his research explored serum miRNAs as biomarkers for rare muscular dystrophies and differentiated circulating small RNA signatures to accurately classify types of muscular dystrophies. His work also extended to prenatal treatment approaches for classic 21-hydroxylase deficiency and exploring molecular targets for obesity. Phylactou has also contributed significantly to understanding the Cypriot cystic fibrosis population, demonstrating the value of a national CF patient registry in identifying pathogenic variants in the CFTR gene.

Aliases

Leonidas A. Phylactou is known by several aliases in academic publications, including L. A. Phylactou, L. A Phylactou, Leonidas Phylactou, and L A Phylactou. These variations can be found across different journals and publications in which his work appears.

Publication and Citation Metrics

Metric Value
Total Citations 2125
h-index 24
Total Papers 131

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