Our Focus
As a lab, we are interested in determining the molecular mechanisms for disease using human genetic approaches to investigate clinical phenotypes. Additional efforts are aimed at determining the molecular mechanism for contiguous gene syndromes.
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About
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Dr. Lupski is Cullen Professor of Molecular and Human Genetics and Professor of Pediatrics. He received his undergraduate degree at NYU in chemistry and biology (1979) and completed his M.D./Ph.D. program in 1985. In 1986, he moved to Houston, Texas for clinical training in pediatrics (1986-1989) and medical genetics (1989-1992) and then established his own laboratory
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News
Current Projects
The Baylor Hopkins Center for Mendelian Genomics (BHCMG)
Structural Variation Mutagenesis
Computational Tools
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Publications
Posey, J.E., et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 376, 21-31 (2017). PMID: 2795969
Liu, P., et al. An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 168, 830-842 e837 (2017). PMID: 28235197
For all other Lupski Lab publications, visit [PubMed]
For high impact journal articles, visit [Publications]