864-388-1049 (voice)
864-941-8141
(fax)
juliejones@ggc.org |
Director - Molecular Diagnostic Laboratory
- B.S. (Math and Biology), Birmingham Southern College,
Birmingham, AL, 1990
- Ph.D. (Medical Genetics), University of Alabama at
Birmingham, Birmingham, AL, 1998
- Postdoctoral Fellow, Cystic Fibrosis Research Center,
University of Alabama at Birmingham, Birmingham, AL, 1998
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Research
Fellow, Department of Molecular Physiology and Biophysics, Vanderbilt
University Medical Center, Nashville, TN, 1999-2003
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Clinical
Fellow, Molecular Diagnostic Laboratory, Greenwood Genetic Center,
Greenwood, SC, 2003-2005
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Asst.
Director, Molecular Diagnostic Laboratory, Greenwood Genetic Center,
Greenwood, SC, 2005-2008
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Dr. Jones came to the Greenwood Genetic Center (GGC) as a
Clinical Molecular Fellow in 2003. After completing her fellowship, she
became Assistant Director of the lab and in 2008 assumed the position of
Director. As Director of the Molecular Diagnostic Lab, Dr. Jones’s
primary duties include the daily interpretation of test results,
supervising the various genetic testing activities of the lab, and
training the current Clinical Molecular Genetics Fellows. In addition to
her diagnostic work, Dr. Jones is involved in several research projects.
Her primary research focuses on the dysregulation of methylation of
X-linked, brain-expressed genes in males with autism.
The Molecular Diagnostic Laboratory at GGC conducts
over 7000 tests each year for more than 50 disorders, most of which are
associated with mental retardation and/or birth defects.
Dr. Jones is board certified by the American Board of
Medical Genetics. She is a member of the American Association for the
Advancement of Science, the American Society of Human Genetics, the
Association for Molecular Pathology, and the American College of Medical
Genetics.
Selected Publications:
- Du M, Jones JR, Lanier J, Keeling KM,
Lindsey JR, Tousson A, Bëbok Z, Whitsett JA, Dey CR, Colledge WH,
Evans MJ, Sorscher EJ, Bedwell DM. Aminoglycoside suppression of a
premature stop mutation in a cftr -/- mouse carrying a human
CFTR-G542X transgene. Journal of Molecular Medicine 80: 595-604,
2002.
- Jones JR, Schwiebert EM, DuVall MD,
Venglarik CJ, Wen H, Braunstein G, Bates E, Maddry JA, Greer H,
Sorscher EJ. Activation of chloride secretion in cystic fibrosis
cells and tissues by the substituted imidazole SRI 2931.
Biochemistry 42: 13241-13249, 2003.
- Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE,
Yamada T, MacLeod PJM, Jones JR, Scherer SW, Schanen NC,
Friez MJ, Vincent JB, Minassian BA. A previously unidentified MECP2
open reading frame defines a new protein isoform relevant to Rett
syndrome. Nature Genetics 36: 339-341, 2004.
- Jones JR, Barrick C, Blondeau B, Shiota M,
Kahn BB, Magnuson MA. Deletion of PPAR gamma in adipose tissues of
mice protects against high fat diet-induced obesity and insulin
resistance. PNAS 102: 6207-6212, 2005.
- Wang RY, Jones JR, Chen S, Rogers RC,
Friez MJ, Schwartz CE, Graham JM. A previously unreported mutation
in a Currarino syndrome kindred. American Journal of Medical
Genetics Part A 140A: 1923-1930, 2006.
- Friez MJ, Jones JR, Clarkson K, Lubs H,
Abuelo D, Blaymore Bier J, Shashidhar P, Simensen R, Williams C,
Giampietro PF, Schwartz CE, Stevenson RE. Recurrent infections,
hypotonia, and mental retardation caused by duplication of MECP2 and
adjacent region in Xq28. Pediatrics 118: e1687-e1695, 2006.
- Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May
MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S,
Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR,
Gecz J, Stratton MR, Raymond FL, Stevenson RE. The original Lujan
syndrome family has a novel missense mutation (p.N1007S) in the
MED12 gene. Journal of Medical Genetics 44:472-477, 2007.
- Jones JR, Skinner C, Friez MJ, Schwartz
CE, Stevenson RE. Hypothesis: Dysregulation of methylation of
brain-expressed genes on the X chromosome and autism spectrum
disorders. American Journal of Medical Genetics Part A 146A:
2213-2220, 2008.
Book Chapter: Jones JR, Shelton KD, Magnuson
MA. Strategies for the use of site-specific recombinases in genome
engineering. In: Methods in Molecular Medicine. G Su, ed. Vol. 103.
Pancreatic Cancer. Humana Press, Totowa, 2004. |
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