Carol J Saunders

Carol J Saunders

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Carol J Saunders

Carol J Saunders

Publications by authors named "Carol J Saunders"

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32Publications

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Variation among Consent Forms for Clinical Whole Exome Sequencing.

J Genet Couns 2018 02 8;27(1):104-114. Epub 2017 Jul 8.

Department of Biomedical and Health Informatics, University of Missouri-Kansas City, Kansas City, MO, USA.

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http://doi.wiley.com/10.1007/s10897-017-0127-2
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http://dx.doi.org/10.1007/s10897-017-0127-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5794809PMC
February 2018

Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis.

J Allergy Clin Immunol 2016 05 26;137(5):1591-1595.e4. Epub 2015 Nov 26.

Department of Translational Medical Sciences, Federico II University of Naples, Naples, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.09.050DOI Listing
May 2016

A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.

J Gen Physiol 2015 Nov;146(5):399-410

Department of Neurobiology, Physiology and Behavior, Department of Physiology and Membrane Biology, and Department of Anesthesiology and Pain Medicine, University of California, Davis, Davis, CA 95616 Department of Neurobiology, Physiology and Behavior, Department of Physiology and Membrane Biology, and Department of Anesthesiology and Pain Medicine, University of California, Davis, Davis, CA 95616

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http://dx.doi.org/10.1085/jgp.201511444DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4621747PMC
November 2015

The Future of Next-Generation Sequencing in Neurology.

JAMA Neurol 2015 Sep;72(9):971-2

School of Medicine, University of Missouri-Kansas City, Kansas City3Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri.

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http://dx.doi.org/10.1001/jamaneurol.2015.1076DOI Listing
September 2015

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.

Lancet Respir Med 2015 May 27;3(5):377-87. Epub 2015 Apr 27.

Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, MO, USA; Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO, USA; Department of Pathology, Children's Mercy-Kansas City, Kansas City, MO, USA; School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri 64108, USA. Electronic address:

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http://dx.doi.org/10.1016/S2213-2600(15)00139-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479194PMC
May 2015

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Sci Transl Med 2014 Dec;6(265):265ra168

Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA. Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO 64108, USA. School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA. Department of Pathology, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.

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http://dx.doi.org/10.1126/scitranslmed.3010076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4286868PMC
December 2014

Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing.

Genomics 2013 Nov-Dec;102(5-6):442-7. Epub 2013 Aug 31.

Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology, Children's Mercy Hospital, Kansas City, MO 64108, USA; School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ygeno.2013.08.008DOI Listing
July 2014

Next-generation community genetics for low- and middle-income countries.

Genome Med 2012 29;4(3):25. Epub 2012 Mar 29.

Center for Pediatric Genomic Medicine, Children's Mercy Hospitals and Clinics, 2401 Gilham Road, Kansas City, MO 64108, USA.

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http://genomemedicine.biomedcentral.com/articles/10.1186/gm3
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http://dx.doi.org/10.1186/gm324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446275PMC
May 2014

Pediatric Crohn disease presenting as appendicitis: differentiating features from typical appendicitis.

Eur J Pediatr Surg 2012 Aug 30;22(4):274-8. Epub 2012 May 30.

Division of Gastroenterology, Children's Mercy Hospitals and Clinics, Kansas City, Missouri 64108, United States.

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http://dx.doi.org/10.1055/s-0032-1313348DOI Listing
August 2012

Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.

Am J Med Genet B Neuropsychiatr Genet 2012 Mar 27;159B(2):210-6. Epub 2011 Dec 27.

Molecular Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.b.32015DOI Listing
March 2012

Genomic medicine: evolving science, evolving ethics.

Per Med 2012 ;9(5):523-528

University of Missouri, Children's Mercy Hospital, Kansas City, MO, USA.

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https://www.futuremedicine.com/doi/10.2217/pme.12.56
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http://dx.doi.org/10.2217/pme.12.56DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500993PMC
January 2012

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing.

Expert Rev Mol Diagn 2011 Nov;11(8):855-68

Children's Mercy Hospital & Clinics, 2401 Gillham Road, Kansas City, MO 64108, USA.

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http://dx.doi.org/10.1586/erm.11.70DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3740118PMC
November 2011

Allele drop-out in the MECP2 gene due to G-quadruplex and i-motif sequences when using polymerase chain reaction-based diagnosis for Rett syndrome.

Genet Test Mol Biomarkers 2010 Apr;14(2):241-7

Department of Pathology and Laboratory Medicine, The Children's Mercy Hospitals and Clinics, Kansas City, Missouri 64108, USA.

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http://www.liebertpub.com/doi/10.1089/gtmb.2009.0178
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http://dx.doi.org/10.1089/gtmb.2009.0178DOI Listing
April 2010

Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics.

Am J Med Genet A 2009 Nov;149A(11):2527-31

Department of Pathology and Laboratory Medicine, The Children's Mercy Hospitals and Clinics, Kansas City, Missouri 64108, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33067
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http://dx.doi.org/10.1002/ajmg.a.33067DOI Listing
November 2009

Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.

Am J Med Genet A 2009 May;149A(5):1019-23

Department of Pathology and Laboratory Medicine, The Children's Mercy Hospitals and Clinics, Kansas City, Missouri, USA.

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http://dx.doi.org/10.1002/ajmg.a.32776DOI Listing
May 2009