Publications by authors named "Charles Schwartz"

99Publications

Schimke XLID syndrome results from a deletion in BCAP31.

2020 Jul 18. Epub 2020 Jul 18.

Greenwood Genetic Center, Greenwood, South Carolina, USA.

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http://dx.doi.org/10.1002/ajmg.a.61755DOI Listing
July 2020

The Future of Clinical Diagnosis: Moving Functional Genomics Approaches to the Bedside.

Clin Lab Med 2020 06;40(2):221-230

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

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http://dx.doi.org/10.1016/j.cll.2020.02.006DOI Listing
June 2020

Early Structural Deterioration of a Sutureless Bioprosthetic Aortic Valve.

Cardiol Res 2020 Apr 10;11(2):113-117. Epub 2020 Mar 10.

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

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http://dx.doi.org/10.14740/cr1013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7092772PMC
April 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058829PMC
March 2020

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

Clin Dysmorphol 2020 Jul;29(3):144-147

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
July 2020

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

2020 03 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

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

Clin Genet 2020 03 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

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

Eur J Med Genet 2020 Apr 30;63(4):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
April 2020

Current state of clinical trials in breast cancer brain metastases.

Neurooncol Pract 2019 Sep 11;6(5):392-401. Epub 2019 Feb 11.

Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

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http://dx.doi.org/10.1093/nop/npz003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6753353PMC
September 2019

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

2019 12 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

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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Malformations among the X-linked intellectual disability syndromes.

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

MED12 related disorders.

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

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

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

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

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

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

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

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

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

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

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