Julie Jones, PhD

Senior Director - Molecular Diagnostic Laboratory

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 Senior 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 60 disorders, most of which are associated with intellectual disabilities and/or birth defects.

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

Selected Publications

• Basehore MJ, Marlowe NM, Jones JR, Behlendorf DE, Laver TA, Friez MJ. Validation of a Screening Tool for the Rapid and Reliable Detection of CGG Trinucleotide Repeat Expansions in FMR1. Genet Test Mol Biomarkers. 2012 June 16(6):465-70.

• Takano K, Tan WH, Irons MB, Jones JR, Schwartz CE. Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. Clinical Genet Dec. 2011: 80: 600-01.

• Fusco F, Paciolla M, Chen E, Li X, Genesio R, Conti A, Jones J, Poeta L, Lioi MB, Ursini MV, Miano MG.Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region. Hum Reprod. 2011 Nov 26(11):3186-96.

• Champion, KJ, Bunag, C, Estep, AL,Jones, JR, Bolt, CH, Rogers, RC, Rauen, KA, Everman, DB. Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome. Clinical Genetics 79(5):468-474, 2010.
  
  
• Takano K, Lyons M, Moyes C, Jones J, Schwartz C. Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. Clinical Genetics 78(3):282-288, 2010.
  
  
• 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.
  
  
• 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.
  
  
• 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.
  
  
• 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.
  
  
• 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.
  
  
• 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, 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.
  
  
• 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.

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.