Author Information
James R. Lupski is a distinguished researcher affiliated with the Department of Molecular and Human Genetics at Baylor College of Medicine in Houston, TX, USA. His comprehensive work in the field of genetics has significantly contributed to our understanding of human genetic disorders and their underlying mechanisms.Research Contributions
James R. Lupski's research covers a wide array of topics within human genetics, focusing particularly on genetic mutations and their implications for various disorders. In 2022 alone, he has contributed to numerous groundbreaking studies. These include research on natural killer cell deficiency, neurodevelopmental defects, metabolic abnormalities, and complex neurodevelopmental disorders. His work has been pivotal in expanding the mutation and phenotype spectrum of several genetic disorders, such as MYH3-associated skeletal disorders and ROR2-related Robinow syndrome. His studies also delve into the genetic underpinnings of neurodevelopmental delay and cerebellar degeneration, as well as the link between a novel RETREG1 allele and specific disease manifestations in a Turkish family.Aliases
James R. Lupski is known by various aliases in academic circles, including J. Lupski, James R. Lupski, James Lupski, J.r. Lupski, Jamesr. Lupski, J. R. Lupski, and J R Lupski.Publication and Citation Metrics
| Metric |
Value |
| Citation Count |
86,647 |
| h-index |
137 |
| Paper Count |
1,038 |
