Charles Schwartz

Charles Schwartz

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Charles Schwartz

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An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.

Am J Med Genet A 2019 Sep 12. Epub 2019 Sep 12.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.

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http://dx.doi.org/10.1002/ajmg.a.61353DOI Listing
September 2019

Polyamine Homeostasis in Snyder-Robinson Syndrome.

Med Sci (Basel) 2018 Dec 7;6(4). Epub 2018 Dec 7.

Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.3390/medsci6040112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318755PMC
December 2018

Impact of high intensity interval exercise on executive function and brain derived neurotrophic factor in healthy college aged males.

Physiol Behav 2018 07 17;191:116-122. Epub 2018 Apr 17.

Department of Kinesiology and Health Sciences, Virginia Commonwealth University, Richmond, VA, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00319384183019
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http://dx.doi.org/10.1016/j.physbeh.2018.04.018DOI Listing
July 2018

X-linked intellectual disability update 2017.

Am J Med Genet A 2018 06 25;176(6):1375-1388. Epub 2018 Apr 25.

J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina.

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http://dx.doi.org/10.1002/ajmg.a.38710DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6049830PMC
June 2018

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.

Am J Hum Genet 2018 01;102(1):156-174

Department of Pathology and Laboratory Medicine, Western University, London, ON N6A5C1, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777983PMC
January 2018

Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders.

J Mol Diagn 2017 11 12;19(6):848-856. Epub 2017 Aug 12.

Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2017.07.002DOI Listing
November 2017

Low-level maternal exposure to nicotine associates with significant metabolic perturbations in second-trimester amniotic fluid.

Environ Int 2017 10 30;107:227-234. Epub 2017 Jul 30.

Department of Human Genetics, School of Medicine, Emory University, Whitehead Biomedical Research Building, Suite 301, 615 Michael Street, Atlanta, GA 30322, USA. Electronic address:

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http://dx.doi.org/10.1016/j.envint.2017.07.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5569895PMC
October 2017

Association of FK506 binding proteins with RyR channels - effect of CLIC2 binding on sub-conductance opening and FKBP binding.

J Cell Sci 2017 Oct 29;130(20):3588-3600. Epub 2017 Aug 29.

Eccles Institute of Neuroscience, John Curtin School of Medical Research, Australian National University, PO Box 334, ACT 2601, Australia

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http://dx.doi.org/10.1242/jcs.204461DOI Listing
October 2017

GRASP1 Regulates Synaptic Plasticity and Learning through Endosomal Recycling of AMPA Receptors.

Neuron 2017 Mar 9;93(6):1405-1419.e8. Epub 2017 Mar 9.

Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2017.02.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382714PMC
March 2017

Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array.

J Mol Diagn 2016 11 29;18(6):834-841. Epub 2016 Aug 29.

Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; London Regional Cancer Program, London Health Sciences Center, London, Ontario, Canada; Children's Health Research Institute, London Health Sciences Center, London, Ontario, Canada; Molecular Genetics Laboratory, London Health Sciences Center, London, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2016.06.005DOI Listing
November 2016

Skewed X-inactivation and Females with Intellectual Disability.

Hum Mutat 2016 08;37(8):717

The Greenwood Genetic Center, Greenwood, SC, USA.

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http://dx.doi.org/10.1002/humu.23030DOI Listing
August 2016

Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes.

PLoS One 2015 13;10(2):e0116454. Epub 2015 Feb 13.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, United States of America; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0116454PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4332666PMC
January 2016

Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase.

Int J Mol Sci 2016 Jan 8;17(1). Epub 2016 Jan 8.

Computational Biophysics and Bioinformatics, Clemson University, Clemson, SC 29634, USA.

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http://dx.doi.org/10.3390/ijms17010077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4730321PMC
January 2016

19q13.32 microdeletion syndrome: three new cases.

Eur J Med Genet 2014 Nov-Dec;57(11-12):654-8. Epub 2014 Sep 16.

Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.08.009DOI Listing
July 2015

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.

Expert Rev Mol Med 2015 Jul 1;17:e13. Epub 2015 Jul 1.

Cyto-molecular Diagnostic Research Laboratory,Victorian Clinical Genetics Services and Murdoch Children's Research Institute,Royal Children's Hospital,Melbourne,Victoria,3052,Australia.

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http://dx.doi.org/10.1017/erm.2015.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4836209PMC
July 2015

Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

Hum Mol Genet 2015 May 9;24(10):2861-72. Epub 2015 Feb 9.

Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA, Division of Newborn Medicine, Boston Children's Hospital, MA 02115, USA,

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddv046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406297PMC
May 2015

Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.

Gene 2015 Apr 14;559(2):144-8. Epub 2015 Jan 14.

Unit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1016/j.gene.2015.01.026DOI Listing
April 2015

Aberrant tryptophan metabolism: the unifying biochemical basis for autism spectrum disorders?

Biomark Med 2014 ;8(3):313-5

JC Self Research Institute, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA.

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http://dx.doi.org/10.2217/bmm.14.11DOI Listing
November 2014

Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.

Neurosci Biobehav Rev 2014 Oct 4;46 Pt 2:161-74. Epub 2014 Apr 4.

J.C. Self Research Institute, Greenwood Genetic Center, Greenwood, SC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neubiorev.2014.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4185273PMC
October 2014

Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots.

Clin Chem 2014 Jul 28;60(7):963-73. Epub 2014 Apr 28.

Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia;

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http://dx.doi.org/10.1373/clinchem.2013.217331DOI Listing
July 2014

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.

Am J Hum Genet 2014 Mar;94(3):470-8

School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, SA 5005, Australia; Robinson Institute, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951929PMC
March 2014

Greenhouse gas emissions of alternative pavement designs: framework development and illustrative application.

J Environ Manage 2014 Jan 10;132:313-22. Epub 2013 Dec 10.

Department of Civil and Environmental Engineering, University of Maryland, College Park, MD 20742, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jenvman.2013.11.016DOI Listing
January 2014

Progress in detecting genetic alterations and their association with human disease.

J Mol Biol 2013 Nov 20;425(21):3914-8. Epub 2013 Jul 20.

Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jmb.2013.07.023DOI Listing
November 2013

MED12 related disorders.

Am J Med Genet A 2013 Nov 10;161A(11):2734-40. Epub 2013 Oct 10.

Department of Pediatrics, Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.36183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3839301PMC
November 2013

Malformations among the X-linked intellectual disability syndromes.

Am J Med Genet A 2013 Nov 24;161A(11):2741-9. Epub 2013 Sep 24.

Greenwood Genetic Center, Greenwood, South Carolina.

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http://dx.doi.org/10.1002/ajmg.a.36179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3813298PMC
November 2013

A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.

Hum Mol Genet 2013 Sep 21;22(18):3789-97. Epub 2013 May 21.

Computational Biophysics and Bioinformatics, Department of Physics, Clemson University, Clemson, SC 29634, USA.

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http://dx.doi.org/10.1093/hmg/ddt229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749864PMC
September 2013

Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.

Am J Med Genet A 2013 Sep 29;161A(9):2316-20. Epub 2013 Jul 29.

Clinical Genetics Service, V. Buzzi Children's Hospital, ICP, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36116DOI Listing
September 2013

Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

Eur J Hum Genet 2012 Dec 11;20(12):1311-4. Epub 2012 Apr 11.

Neurogenetics Laboratory, Department of Genetics and Molecular Pathology, SA Pathology at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2012.61DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3499743PMC
December 2012

Functional characterization of tissue-specific enhancers in the DLX5/6 locus.

Hum Mol Genet 2012 Nov 21;21(22):4930-8. Epub 2012 Aug 21.

Department of Bioengineering and Therapeutic Sciences and 2Institute for Human Genetics, University of California-San Francisco, CA, USA.

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http://dx.doi.org/10.1093/hmg/dds336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3529576PMC
November 2012

MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling.

Proc Natl Acad Sci U S A 2012 Nov 22;109(48):19763-8. Epub 2012 Oct 22.

Department of Molecular and Cell Biology, Howard Hughes Medical Institute, University of California, Berkeley, CA 94270, USA.

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http://dx.doi.org/10.1073/pnas.1121120109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511715PMC
November 2012

Percutaneous embolization of patent intercostal artery causing persistent type II endoleak and sac enlargement of thoracoabdominal aneurysm 2 years after hybrid repair.

J Thorac Cardiovasc Surg 2012 Oct 18;144(4):e102-6. Epub 2012 Jul 18.

Cardiac and Vascular Institute and Aortic Disease Center, New York University School of Medicine, New York, NY, USA.

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http://dx.doi.org/10.1016/j.jtcvs.2012.06.056DOI Listing
October 2012

Regional changes in coaptation geometry after reduction annuloplasty for functional mitral regurgitation.

Ann Thorac Surg 2012 Jun 26;93(6):1876-80. Epub 2012 Apr 26.

Department of Cardiothoracic Surgery, New York University School of Medicine, New York, New York 10016, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00034975120042
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http://dx.doi.org/10.1016/j.athoracsur.2012.02.066DOI Listing
June 2012

Seizures and X-linked intellectual disability.

Eur J Med Genet 2012 May 8;55(5):307-12. Epub 2012 Feb 8.

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

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https://linkinghub.elsevier.com/retrieve/pii/S17697212120004
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http://dx.doi.org/10.1016/j.ejmg.2012.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3531238PMC
May 2012

Autism and intellectual disability: two sides of the same coin.

Am J Med Genet C Semin Med Genet 2012 May 12;160C(2):89-90. Epub 2012 Apr 12.

Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA.

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http://dx.doi.org/10.1002/ajmg.c.31329DOI Listing
May 2012

Evolution of operative techniques and perfusion strategies for minimally invasive mitral valve repair.

J Thorac Cardiovasc Surg 2012 Apr 27;143(4 Suppl):S68-70. Epub 2012 Jan 27.

Department of Cardiothoracic Surgery, New York University Medical Center, New York, NY 10016, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S002252231200012
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http://dx.doi.org/10.1016/j.jtcvs.2012.01.011DOI Listing
April 2012

Fragile X and X-linked intellectual disability: four decades of discovery.

Am J Hum Genet 2012 Apr;90(4):579-90

Greenwood Genetic Center, JC Self Research Institute of Human Genetics, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA.

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http://dx.doi.org/10.1016/j.ajhg.2012.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322227PMC
April 2012

Right coronary artery fistula as a result of delayed right atrial perforation by a passive fixation lead.

Circ Arrhythm Electrophysiol 2012 Apr;5(2):e46-7

Division of Cardiology, Department of Medicine, Staten Island University Hospital, Staten Island, NY 10305, USA.

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http://dx.doi.org/10.1161/CIRCEP.111.970376DOI Listing
April 2012

In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase.

PLoS One 2011 27;6(5):e20373. Epub 2011 May 27.

Computational Biophysics and Bioinformatics, Department of Physics, Clemson University, Clemson, South Carolina, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0020373PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3103547PMC
September 2011

A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics.

Proteins 2011 Aug 31;79(8):2444-54. Epub 2011 May 31.

Department of Physics, Computational Biophysics and Bioinformatics, Clemson University, Clemson, South Carolina 29634, USA.

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http://dx.doi.org/10.1002/prot.23065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132293PMC
August 2011

X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?

Am J Med Genet A 2011 Aug 8;155A(8):1959-63. Epub 2011 Jul 8.

Pediatrics A, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

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http://dx.doi.org/10.1002/ajmg.a.34121DOI Listing
August 2011

Structural assessment of the effects of amino acid substitutions on protein stability and protein protein interaction.

Int J Comput Biol Drug Des 2010 4;3(4):334-49. Epub 2011 Feb 4.

Department of Genetics and Biochemistry, Clemson University, Clemson, SC 29634, USA.

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http://www.inderscience.com/link.php?id=38396
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http://dx.doi.org/10.1504/IJCBDD.2010.038396DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319068PMC
May 2011

Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome).

Methods Mol Biol 2011 ;720:437-45

Greenwood Genetic Center, J.C. Self Research Institute, Greenwood, SC, USA.

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http://dx.doi.org/10.1007/978-1-61779-034-8_28DOI Listing
May 2011

Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization.

Am J Med Genet A 2011 May 11;155A(5):1152-6. Epub 2011 Apr 11.

Group for Advanced Molecular Investigation, Graduate Program in Health Sciences, Center for Biological and Health Sciences, Pontifícia Universidade Católica do Parana, Curitiba, PR, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.33942DOI Listing
May 2011

Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry.

Clin Chim Acta 2011 Mar 8;412(7-8):655-60. Epub 2011 Jan 8.

South Carolina Center for the Treatment of Genetic Disorders, Biochemical Genetics Laboratory, Greenwood Genetic Center, Greenwood, SC, United States.

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http://dx.doi.org/10.1016/j.cca.2010.12.037DOI Listing
March 2011

Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism.

Proc Natl Acad Sci U S A 2011 Mar 7;108(12):4920-5. Epub 2011 Mar 7.

McKusick-Nathans Institute of Genetic Medicine and Department of Pediatrics, The Howard Hughes Medical Institute, Predoctoral Training Program in Human Genetics, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1073/pnas.1102233108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3064362PMC
March 2011

A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.

Am J Med Genet A 2011 Feb;155A(2):301-6

Division of Developmental Pediatrics, Department of Pediatrics, Hospital for Sick Children, and Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.33841
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http://dx.doi.org/10.1002/ajmg.a.33841DOI Listing
February 2011