Charles E Schwartz

Charles E Schwartz

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Charles E Schwartz

Charles E Schwartz

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X-linked intellectual disability: Phenotypic expression in carrier females.

Clin Genet 2020 Mar 24;97(3):418-425. Epub 2019 Nov 24.

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

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http://dx.doi.org/10.1111/cge.13667DOI Listing
March 2020

Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12.

Am J Med Genet A 2020 Mar 8;182(3):595-596. Epub 2019 Dec 8.

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.61443DOI Listing
March 2020

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase.

Eur J Hum Genet 2020 Feb 20. Epub 2020 Feb 20.

Division of Gene Regulation and Expression and School of Life Sciences, University of Dundee, Dundee, UK.

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http://dx.doi.org/10.1038/s41431-020-0589-9DOI Listing
February 2020

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

Am J Med Genet A 2019 Dec 12;179(12):2357-2364. 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
December 2019

Phenotypic and molecular description of an individual with a disruptive variant in the SULF2 gene.

Clin Dysmorphol 2019 Dec 13. Epub 2019 Dec 13.

Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.

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http://dx.doi.org/10.1097/MCD.0000000000000309DOI Listing
December 2019

The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.

Eur J Med Genet 2019 Sep 30:103777. Epub 2019 Sep 30.

APHP, UF de Génétique clinique, Centre de Référence Maladies Rares « Anomalies du développement et syndromes malformatifs », Hôpital Armand Trousseau, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2019.103777DOI 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

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

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

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

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

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

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

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

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

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

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

Spermine synthase activity affects the content of decarboxylated S-adenosylmethionine.

Biochem J 2011 Jan;433(1):139-44

Department of Cellular and Molecular Physiology, Milton S. Hershey Medical Center, Pennsylvania State University College of Medicine, PA 17033, USA.

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http://dx.doi.org/10.1042/BJ20101228DOI Listing
January 2011

Microarray data integration for genome-wide analysis of human tissue-selective gene expression.

BMC Genomics 2010 Nov 2;11 Suppl 2:S15. Epub 2010 Nov 2.

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

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http://dx.doi.org/10.1186/1471-2164-11-S2-S15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2975411PMC
November 2010

A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays.

J Hum Genet 2010 Sep 17;55(9):627-30. Epub 2010 Jun 17.

Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1038/jhg.2010.70DOI Listing
September 2010

Computational analysis of missense mutations causing Snyder-Robinson syndrome.

Hum Mutat 2010 Sep;31(9):1043-9

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

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http://dx.doi.org/10.1002/humu.21310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2932761PMC
September 2010

X-linked intellectual disability: unique vulnerability of the male genome.

Dev Disabil Res Rev 2009 ;15(4):361-8

J.C. Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA.

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http://dx.doi.org/10.1002/ddrr.81DOI Listing
March 2010

Partial ATRX gene duplication causes ATR-X syndrome.

Am J Med Genet A 2009 Oct;149A(10):2317-20

Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.

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http://dx.doi.org/10.1002/ajmg.a.33006DOI Listing
October 2009