Jennifer A. Lee, PhD

Assistant Director - Molecular Diagnostic Laboratory

Lee.JennyDr. Lee joined the Greenwood Genetic Center as Assistant Director of the Molecular Diagnostic Laboratory in 2013. Her background is in the study of copy-number variation, complex DNA rearrangements, and genomic disorders, as well as the diagnosis of classic genetic disorders by a variety of molecular methods. Dr. Lee completed her Clinical Molecular Genetics fellowship training at Baylor College of Medicine before becoming Assistant Director of their DNA Diagnostic Laboratory. Thereafter, she spent several years abroad in Germany where she established array testing platforms for the routine diagnosis of intellectual disability at the University of Bonn.

Dr. Lee is board certified by the American Board of Medical Genetics and is a Fellow of the American College of Medical Genetics. She is also a member of the American Society of Human Genetics.

Selected Publications

  • Zink AM, Wohlleber E, Engels H, Rødningen OK, Ravn K, Heilmann S, Rehnitz J, Katzorke N, Kraus C, Blichfeldt S, Hoffmann P, Reutter H, Brockschmidt FF, Kreiß-Nachtsheim M, Vogt PH, Prescott TE, Tümer Z, Lee JA. Microdeletions including FMR1 in three female patients with intellectual disability – further delineation of the phenotype and expression studies. Mol. Syndromol. 2014, 5: 66-76.

  • Kleffmann W, Zink AM, Lee JA, Senderek J, Mangold E, Moog U, Rappold GA, Wohlleber E, Engels H. 5q31 microdeletions: Definition of a critical region and analysis of LRRTM2, a candidate gene for intellectual disability. Mol. Syndromol. 2012, 3: 68-75.

  • Engels H, Schüler HM, Zink AM, Wohlleber E, Brockschmidt A, Hoischen A, Drechsler M, Lee JA, Ludwig KU, Kubisch C, Schwanitz G, Weber RG, Leube B, Hennekam R, Rudnik-Schöneborn S, Kreiß-Nachtsheim M, Reutter H. A phenotype map for 14q32.3 terminal deletions. Am. J. Med. Genet. A 2012, 158A: 695-706.

  • Oshima J, Lee JA, Breman AM, Fernandes PH, Babovic-Vuksanovic D, Ward PA, Wolfe LA, Eng CM, del Gaudio D. LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining. J. Hum. Genet. 2011, 56: 516-523.

  • Oshima J, Magner DB, Lee JA, Breman AM, Schmitt ES, White L, Crowe CA, Jayakar P, Rajadhyaksha A, Eng CM, del Gaudio D. Regional genomic instability predisposes to complex dystrophin gene rearrangements. Hum. Genet. 2009, 126: 411-23.

  • del Gaudio D, Yang Y, Boggs BB, Schmitt ES, Lee JA, Sahoo T, Pham H, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM. Molecular diagnosis of Duchenne/Becker muscular dystrophy: Enhanced detection of dystrophin gene rearrangements by oligonucleotide array comparative genomic hybridization. Hum. Mutat. 2008, 29: 1100-1107.

  • Lee JA, Carvalho CMB, Lupski JR. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 2007, 131: 1235-1247.

  • Magner DB, Blankschien MD, Lee JA, Pennington JP, Lupski JR, Rosenberg SM. RecQ promotes toxic recombination in cells lacking recombination-intermediate-removal proteins. Mol. Cell 2007, 26: 273-286.

  • Potocki L, Bi W, Treadwell-Deering D, Carvalho CMB, Eifert A, Friedman E, 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, and Lupski JR. Characterization of the 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: 633-649.

  • del Gaudio D, Fang P, Scaglia F, Ward P, Craigen W, Glaze D, Neul J, Patel A, Lee JA, Irons M, Berry S, Grebe T, Freedenberg D, Martin R, Hsich G, Khera J, Friedman N, Zoghbi HY, Eng CM, Lupski JR, Beaudet A, Cheung SW, Roa BB. Increased MECP2 gene copy number due to genomic duplication in neurodevelopmentally delayed males. Genet. Med. 2006, 8: 784-792.

  • Lee JA and Lupski JR. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 2006, 52: 103-121.

  • Lee JA, Inoue K, Cheung, SW, Shaw CA, Stankiewicz P, Lupski JR. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum. Mol. Genet. 2006, 15: 2205-2265.

  • Lee JA, Madrid RE, Sperle K, Ritterson CM, Hobson GM, Garbern J, Lupski JR, Inoue K. Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. Ann. Neurol. 2006, 59: 398-403.

  • Lee JA, Cheung SW, Ward PA, Inoue K, Lupski JR. Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization. Prenatal Diagn. 2005, 25: 1188-1191.

 

Contact Information

Office (864) 388-1066
Fax (864) 941-8141
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Education and Experience

  • BS, Biology, Tufts University, 1999
  • PhD, Molecular and Human Genetics, Baylor College of Medicine, 2007
  • Clinical Molecular Genetics Fellow, DNA Diagnostic Laboratory, Medical Genetics Laboratories, Baylor College of Medicine, 2007-2009
  • Assistant Professor, Department of Molecular and Human Genetics, Baylor College of Medicine, 2009-2010
  • Assistant Director, DNA Diagnostic Laboratory, Medical Genetics Laboratories, Baylor College of Medicine, 2009-2010
  • Clinical Laboratory Geneticist, DNA-Array-Diagnostic Laboratory, Institute for Human Genetics, University of Bonn, 2010-2012
  • Assistant Director, Molecular Diagnostic Laboratory, Greenwood Genetic Center, 2013-present