Julie R Jones

Julie R Jones

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Julie R Jones

Julie R Jones

Publications by authors named "Julie R Jones"

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Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.

Hum Genet 2020 Feb 13. Epub 2020 Feb 13.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.

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http://dx.doi.org/10.1007/s00439-019-02105-6DOI Listing
February 2020

Ovotesticular Disorder of Sex Development (Ovotestis) in Simpson-Golabi-Behmel Syndrome: Expansion of the Clinical Spectrum.

Pediatr Dev Pathol 2019 Jan-Feb;22(1):70-74. Epub 2018 Apr 13.

1 Department of Pathology, Women and Infants Hospital, Providence, Rhode Island.

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http://dx.doi.org/10.1177/1093526618770327DOI Listing
March 2019

Forkhead box C1 gene variant causing glaucoma and small vessel angiopathy can mimic multiple sclerosis.

Mult Scler Relat Disord 2018 May 21;22:157-160. Epub 2018 Apr 21.

Greenwood Genetic Center, Greenwood, SC 29646, USA.

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http://dx.doi.org/10.1016/j.msard.2018.04.004DOI Listing
May 2018

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Am J Hum Genet 2017 Sep;101(3):466-477

Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591022PMC
September 2017

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.

Am J Med Genet A 2016 12 29;170(12):3313-3318. Epub 2016 Aug 29.

Clinical Genetics, Greenwood Genetic Center, Greenwood, South Carolina.

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http://dx.doi.org/10.1002/ajmg.a.37945DOI Listing
December 2016

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.

Genes (Basel) 2016 Nov 9;7(11). Epub 2016 Nov 9.

Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics and Gynecology, Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, 1120 15th Street, Augusta, GA 30912, USA.

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http://dx.doi.org/10.3390/genes7110096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126782PMC
November 2016

A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.

BMC Neurol 2016 Aug 9;16:132. Epub 2016 Aug 9.

Department of Obstetrics & Gynecology, Section of Reproductive Endocrinology, Infertility & Genetics, Medical College of Georgia, Augusta University, 1120 15th Street, Augusta, GA, 30912, USA.

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http://dx.doi.org/10.1186/s12883-016-0642-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4979147PMC
August 2016

Lessons from a pair of siblings with BPAN.

Eur J Hum Genet 2016 07 18;24(7):1080-3. Epub 2015 Nov 18.

Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.

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http://dx.doi.org/10.1038/ejhg.2015.242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070893PMC
July 2016

CHD8 intragenic deletion associated with autism spectrum disorder.

Eur J Med Genet 2016 Apr 26;59(4):189-94. Epub 2016 Feb 26.

Greenwood Genetic Center, Greenwood, SC, 29646, USA.

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http://dx.doi.org/10.1016/j.ejmg.2016.02.010DOI Listing
April 2016

Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome.

Gene 2016 Jan 20;575(1):42-7. Epub 2015 Aug 20.

Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Georgia Regents University, Augusta, GA 30912, USA; Department of Neuroscience and Regenerative Medicine, Georgia Regents University, Augusta, GA 30912, USA. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.08.032DOI Listing
January 2016

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.

Cold Spring Harb Mol Case Stud 2016 Jan;2(1):a000661

Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA;; Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.

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http://dx.doi.org/10.1101/mcs.a000661DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4849844PMC
January 2016

The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.

Am J Med Genet A 2014 Sep 7;164A(9):2172-9. Epub 2014 Jul 7.

Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics and Gynecology, Institute of Molecular Medicine and Genetics, Medical College of Georgia, Georgia Regents University, Augusta, Georgia.

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http://dx.doi.org/10.1002/ajmg.a.36488DOI Listing
September 2014

Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.

Am J Med Genet A 2014 Feb 5;164A(2):516-21. Epub 2013 Dec 5.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.

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http://doi.wiley.com/10.1002/ajmg.a.36299
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http://dx.doi.org/10.1002/ajmg.a.36299DOI Listing
February 2014

Nonrandom X chromosome inactivation detection.

Authors:
Julie R Jones

Curr Protoc Hum Genet 2014 Jan 21;80:Unit 9.7.. Epub 2014 Jan 21.

Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, South Carolina.

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http://doi.wiley.com/10.1002/0471142905.hg0907s80
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http://dx.doi.org/10.1002/0471142905.hg0907s80DOI Listing
January 2014

Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.

Am J Med Genet A 2013 Jun 23;161A(6):1432-5. Epub 2013 Apr 23.

Department of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin 53705-9345, USA.

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http://dx.doi.org/10.1002/ajmg.a.35885DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5484633PMC
June 2013

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

J Inherit Metab Dis 2013 Mar 14;36(2):179-87. Epub 2012 Sep 14.

Biochemical Diagnostic Laboratory, Greenwood Genetic Center, 106 Gregor Mendel Circle, Greenwood, SC 29646, USA.

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http://dx.doi.org/10.1007/s10545-012-9533-7DOI Listing
March 2013

Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1.

Genet Test Mol Biomarkers 2012 Jun 6;16(6):465-70. Epub 2012 Jan 6.

Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.

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http://www.liebertpub.com/doi/10.1089/gtmb.2011.0134
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http://dx.doi.org/10.1089/gtmb.2011.0134DOI Listing
June 2012

A previously unreported mutation in a Currarino syndrome kindred.

Am J Med Genet A 2006 Sep;140(18):1923-30

Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1002/ajmg.a.31420DOI Listing
September 2006

Dietary reference intakes: implications for fiber labeling and consumption: a summary of the International Life Sciences Institute North America Fiber Workshop, June 1-2, 2004, Washington, DC.

Nutr Rev 2006 Jan;64(1):31-8

Department of Family, Consumer and Nutritional Sciences, College of St. Catherine, Minneapolis, Minnesota, USA.

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http://dx.doi.org/10.1111/j.1753-4887.2006.tb00170.xDOI Listing
January 2006

Strategies for the use of site-specific recombinases in genome engineering.

Methods Mol Med 2005 ;103:245-57

Department of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, TN, USA.

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http://dx.doi.org/10.1385/1-59259-780-7:245DOI Listing
July 2005

Deletion of PPARgamma in adipose tissues of mice protects against high fat diet-induced obesity and insulin resistance.

Proc Natl Acad Sci U S A 2005 Apr 15;102(17):6207-12. Epub 2005 Apr 15.

Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.

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http://dx.doi.org/10.1073/pnas.0306743102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC556131PMC
April 2005

Efficient DNA cassette exchange in mouse embryonic stem cells by staggered positive-negative selection.

Genesis 2004 Aug;39(4):256-62

Department of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-0615, USA.

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http://doi.wiley.com/10.1002/gene.20053
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http://dx.doi.org/10.1002/gene.20053DOI Listing
August 2004

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.

Nat Genet 2004 Apr 21;36(4):339-41. Epub 2004 Mar 21.

Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.

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http://dx.doi.org/10.1038/ng1327DOI Listing
April 2004

Activation of chloride secretion in cystic fibrosis cells and tissues by the substituted imidazole SRI 2931.

Biochemistry 2003 Nov;42(45):13241-9

Vanderbilt University Medical Center, Department of Molecular Physiology and Biophysics, Nashville, Tennessee, USA.

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http://dx.doi.org/10.1021/bi0340447DOI Listing
November 2003

Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene.

J Mol Med (Berl) 2002 Sep 3;80(9):595-604. Epub 2002 Jul 3.

Department of Microbiology, The University of Alabama at Birmingham, Birmingham, AL 35294-2170, USA.

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http://dx.doi.org/10.1007/s00109-002-0363-1DOI Listing
September 2002

Generation and functional confirmation of a conditional null PPARgamma allele in mice.

Genesis 2002 Feb;32(2):134-7

Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee 37232-0615, USA.

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http://dx.doi.org/10.1002/gene.10042DOI Listing
February 2002