James R. Lupski (born February 22, 1957)[1] is the Cullen Endowed Chair in Molecular Genetics and Professor in the Department of Pediatrics at Baylor College of Medicine.[2] Lupski obtained his BA degree from New York University in 1979 and his PhD and MD degrees in 1984 and 1985, respectively, from the same institution. He later moved for his Residency in Pediatrics to Baylor College of Medicine, where he has stayed since. Lupski is affected by a genetic disease called Charcot-Marie-Tooth (CMT) and has studied the condition as part of his research. He has contributed to the discovery and definition of genomic disorders and several genetic diseases.[3][4]
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ASHG 2018: James R. Lupski, McKusick Leadership Awardee
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NHGRI's Genomic Medicine Research Portfolio - Eric Green
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Population Genetics in an Era of Genomic Health - Eimear Kenny
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References
- ^ "James R. Lupski". Science History Institute. Retrieved 2018-09-05.
- ^ "James R. Lupski, M.D., Ph.D." Baylor College of Medicine. Retrieved 8 May 2011.
- ^ Lupski, J. R.; Reid, J. G.; Gonzaga-Jauregui, C.; Rio Deiros, D.; Chen, D. C. Y.; Nazareth, L.; Bainbridge, M.; Dinh, H.; Jing, C.; Wheeler, D. A.; McGuire, A. L.; Zhang, F.; Stankiewicz, P.; Halperin, J. J.; Yang, C.; Gehman, C.; Guo, D.; Irikat, R. K.; Tom, W.; Fantin, N. J.; Muzny, D. M.; Gibbs, R. A. (2010). "Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy". New England Journal of Medicine. 362 (13): 1181–1191. doi:10.1056/NEJMoa0908094. PMC 4036802. PMID 20220177.
- ^ "Discovery Adds New Twist to Certain Genetic Diseases". Baylor College of Medicine. Archived from the original on 17 March 2012. Retrieved 8 May 2011.
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This page was last edited on 5 August 2023, at 15:29