JulieReneeJonesMD

PubMed

• Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
  Stolerman, E. S.,Francisco, E.,Stallworth, J. L.,Jones, J. R.,Monaghan, K. G.,Keller-Ramey, J.,Person, R.,Wentzensen, I. M.,McWalter, K.,Keren, B.,Heron, B.,Nava, C.,H...> ;Am. J. Med. Genet. A. 2019 May 28
• Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
  Spellicy, C. J.,Peng, Y.,Olewiler, L.,Cathey, S. S.,Rogers, R. C.,Bartholomew, D.,Johnson, J.,Alexov, E.,Lee, J. A.,Friez, M. J.,Jones, J. R.> ;J. Hum. Genet.. 2019 Mar 13
• A Neurodevelopmental Disorder Caused by Mutations in the VPS51 Subunit of the GARP and EARP Complexes.
  Gershlick, D. C.,Ishida, M.,Jones, J. R.,Bellomo, A.,Bonifacino, J. S.,Everman, D. B.> ;Hum. Mol. Genet.. 2019 Jan 10
• Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.
  Rojnueangnit, K.,Jones, J. R.,Basehore, M. J.,Robin, N. H.> ;Am. J. Med. Genet. A. 2013 Dec 07
• Novel Mutation in TP63 Associated With Ectrodactyly Ectodermal Dysplasia and Clefting Syndrome and T Cell Lymphopenia.
  Giampietro, P. F.,Baker, M. W.,Basehore, M. J.,Jones, J. R.,Seroogy, C. M.> ;Am. J. Med. Genet. A. 2013 Jun
• Validation of a Screening Tool for the Rapid and Reliable Detection of CGG Trinucleotide Repeat Expansions in FMR1.
  Basehore, M. J., Marlowe, N. M., Jones, J. R., Behlendorf, D. E., Laver, T. A., Friez, M. J.> ;Genet Test Mol Biomarkers. 2012 Jun
• Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders.
  Jones, J. R.,Skinner, C.,Friez, M. J.,Schwartz, C. E.,Stevenson, R. E.> ;Am. J. Med. Genet. A. 2008 Aug 14
• Nonrandom x chromosome inactivation detection.
  Jones, J. R.> ;Curr Protoc Hum Genet. 2014 Feb 11
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