Cindy Skinner

Cindy Skinner

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Cindy Skinner

Cindy Skinner

Publications by authors named "Cindy Skinner"

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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

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

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

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

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

11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.

Am J Med Genet A 2011 Jun 12;155A(6):1272-80. Epub 2011 May 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.33878DOI Listing
June 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

Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder.

Autism Res 2009 Aug;2(4):232-6

JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.

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http://dx.doi.org/10.1002/aur.87DOI Listing
August 2009

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Nat Genet 2009 May 19;41(5):535-43. Epub 2009 Apr 19.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872007PMC
May 2009

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Analysis of the neuroligin 4Y gene in patients with autism.

Psychiatr Genet 2008 Aug;18(4):204-7

Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA.

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http://pdfs.journals.lww.com/psychgenetics/2008/08000/Analys
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/YPG.0b013e3282fb7fe6DOI Listing
August 2008

Neurexin 1alpha structural variants associated with autism.

Neurosci Lett 2008 Jun 25;438(3):368-70. Epub 2008 Apr 25.

Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S030439400800566
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http://dx.doi.org/10.1016/j.neulet.2008.04.074DOI Listing
June 2008

Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males.

Am J Med Genet A 2007 Oct;143A(19):2321-9

Greenwood Genetic Center, J.C. Self Research Institute of Human Genetics, Greenwood, South Carolina 29646, USA.

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http://doi.wiley.com/10.1002/ajmg.a.31928
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http://dx.doi.org/10.1002/ajmg.a.31928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061623PMC
October 2007

High frequency of neurexin 1beta signal peptide structural variants in patients with autism.

Neurosci Lett 2006 Nov 10;409(1):10-3. Epub 2006 Oct 10.

Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010-3000, USA.

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http://dx.doi.org/10.1016/j.neulet.2006.08.017DOI Listing
November 2006

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.

Eur J Hum Genet 2003 Dec;11(12):937-44

1J.C. Self Research Institute, Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USA.

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http://dx.doi.org/10.1038/sj.ejhg.5201072DOI Listing
December 2003

Absence of MeCP2 mutations in patients from the South Carolina autism project.

Am J Med Genet B Neuropsychiatr Genet 2003 Feb;117B(1):97-101

Greenwood Genetic Center, Greenwood, South Carolina, USA.

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http://dx.doi.org/10.1002/ajmg.b.10016DOI Listing
February 2003