Our Focus

Our laboratory is 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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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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Current Projects

  • The Baylor Hopkins Center for Mendelian Genomics (BHCMG)

  • Structural Variation Mutagenesis

  • Computational Tools

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  1. Posey, J.E., et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 376, 21-31 (2017). PMID: 2795969

  2. 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]