Lee, Jennifer A.

Dr. Lee joined the Greenwood Genetic Center as Assistant Director of the Molecular Diagnostic Laboratory in 2013, was promoted to Associate Director in 2015, and to Lead Director in 2016. 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.

Contact Information

Office (864) 388-1066
Fax (864) 941-8141
[email protected]

Education

• 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, 2013-2015
• Associate Director, Molecular Diagnostic Laboratory, Greenwood Genetic Center, 2015-2016
• Lead Director, Molecular Diagnostic Laboratory, Greenwood Genetic Center, 2016-present

Publications

• • Aref-Eshghi E, Kerkhof J, Pedro V, Groupe DI France, Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, HennekamRC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci T, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA , DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B. Evaluation of DNA methylation EpiSigns for diagnosis and phenotype
    correlations in 42 Mendelian neurodevelopmental disorders. (2020) Am. J. Hum. Genet. 106(3):356-370.
  • Bend R*, Cohen L, Carter MT, Lyons MJ, Niyazov D, Mikati M, Rojas SK, Person RE, Si Y, Wentzensen IM, Torti E, Lee JA, Boycott KM, Basel-Salmon L, Gonzaga-Jauregui C*, Ferreira CR. Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities. (2020) Eur. J. Hum. Genet. 28(1):76-87.
  • Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Lee JA, Fang P, Cheung SW, Song X, Simons P, Sperle K, Davis-Williams A, Jornlin C, Inoue K, Zhan F, Hobson GM, Pehlivan D, Carvalho CMB, Lupski JR. “PLP1 deletions and correlation with distinct neurological disease traits in females: clustering of breakpoints in a genomic instability hotspot and further evidence for a contiguous gene syndrome,” (2020) Hum. Mutat. 41(1):150-168.
  • Spellicy CJ, Cathey SS, Rogers C, Johnson J, Lee JA, Friez MJ, Jones JR. “Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?” (2019) J. Hum. Genet. 64(6):561-572.
  • Grant AR*, Cushman BJ*, Cavé H, Dillon MW, Gelb BD, Gripp KW, Lee JA, Mason-Suares H, Rauen KA, Tartaglia M, Vincent LM, Zenker M (*equal contribution). Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework (2018) Hum. Mutat. 39(11):1485.
  • Latham SL, Ehmke N, Reinke PYA, Taft MH, Lyons MJ, Friez MJ, Lee JA, Hecker R, Fruehwald MC, Becker K, Neuhann TM, Schrock E, Sarnow K, Grützmann K, Gawehn L, Klink B, Rump A, Chaponnier C, Knöfler RJ, Manstein DJ and Di Donato N. Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia. (2018) Nat. Commun. 9(1):4250.
  • Gelb BD, Cavé H, Dillon M, Gripp KW, Lee JA, Mason-Suares H, Rauen KA, Williams B, Zenker M, Vincent LM for the ClinGen RASopathy Working Group. ClinGen’s RASopathy Expert Panel Consensus Methods for Variant Interpretation. (2018) Genet. Med.
  • Helgeson M, Keller-Ramey J, Knight Johnson A, Lee JA, Magner DB, Hu Y-Y, Li Z, Donato K, Soma D, Schaaf C, Krantz I, Noon S, Hoganson G, Burton J, Laframboise R, Tremblay S, del Gaudio D. Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. (2017) J. Hum. Genet. 63(3): 349-356.
  • Larrew T, Eskandari R, Holden KR, Chen A, Spellicy CJ, Jones JR, Lee JA, and Lyons MJ. Transgenerational Inheritance of Familial Lipomyelomeningocele. (2017) J. Child Neurol, 32(14): 1118-1122.
  • Om A, Cathey SS, Gathings RM, Hudspeth M, Lee JA, Marzolf S, Wine Lee L. Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential. (2017) Pediatr. Dermatol. 34(3): 352-355.
  • Johnson AK, Schaefer GB, Lee J, Hu Y, del Gaudio D. Alu-mediated deletion of PIGL in a patient with CHIME syndrome. (2017) Am. J. Med. Genet. A. 173(5): 1378-1382.
  • Ha K, Anand P, Lee JA, Jones JR, Kim CA, Bertola DR, Labonne JDJ, Wenzel W, Layman LC, Kim H-G. Steric Clash in SET domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and its Genetic Heterogeneity in Brazilian Cohort. (2016) Genes 7(11): E96.
  • Ehret JK, Engels H, Cremer K, Becker J, Zimmermann JP, Wohlleber E, Grasshoff U, Rossier E, Bonin M, Mangold E, Bevot A, Schön S, Heilmann-Heimbach S, Dennert N, Mathieu-Dramard M, Lacaze E, Plessis G, de Broca A, Jedraszak G, Röthlisberger B, Miny P, Filges I, Dufke A, Andrieux J*, Lee JA*, Zink AM* (*equal contribution). Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: Is STXBP1 not the only causative gene? (2015) Mol. Cytogenet.8: 72.
  • 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.