James R. Lupski, M.D., Ph.D.
Department of Molecular and Human Genetics
Department of Pediatrics
- Ph.D., New York University
- M.D., New York University School of Medicine
- Postdoctoral, New York University
- Residency, Pediatrics, Baylor College of Medicine
- Fellowship, Medical Genetics, Baylor College of Medicine
- Genomic disorders
- Gene dosage and recombination
- Chow CY, Zhang Y, Adamska M, Dowling J, Shiga K, Szigeti K, Shy M, Lupski JR, Weisman L, Meisler MH. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and in patients with CMT4J. Nature. 2007. 448:68-72.
- Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, Sherry ST, Smith D, Valle D, Waterston RH. Completing the map of human genetic variation. Nature. 2007. 447:161-5.
- Khajavi M, Shiga K, Wiszniewski W, He F, Yan J, Wensel T, Snipes GJ, Lupski JR. Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet. 2007. 81:438-53.
- Lupski, JR. Genomic rearrangements and sporadic disease. Nat Genet. 2007. 39:S43-7.
- Lupski JR. Structural variation in the human genome. N Engl J Med. 2007. 356:1169-71.
- Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007. 80:633-49.
- Genomic Disorders – The Genomic Basis of Disease. Lupski JR and Stankiewicz P (Eds.) Humana Press, Totowa, NJ, 2006, pp. 1-427.