Carol Saunders

Carol Saunders

UNVERIFIED PROFILE

Are you Carol Saunders?   Register this Author

Register author
Carol Saunders

Carol Saunders

Publications by authors named "Carol Saunders"

Are you Carol Saunders?   Register this Author

74Publications

2066Reads

15Profile Views

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 Jun 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Examination of rare genetic variants in dental enamel genes: The potential role of next-generation sequencing in primary dental care.

Orthod Craniofac Res 2019 May;22 Suppl 1:49-55

University of Missouri-Kansas City School of Medicine, Kansas City, Missouri.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ocr.12266DOI Listing
May 2019

Clinical genome sequencing in an unbiased pediatric cohort.

Genet Med 2019 02 16;21(2):303-310. Epub 2018 Jul 16.

Center for Pediatric Genomic Medicine Children's Mercy-Kansas City, Kansas City, Missouri, 64108, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0075-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752301PMC
February 2019

Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic and gene variants.

Int J Pediatr Endocrinol 2018 17;2018. Epub 2018 Jul 17.

1Children's Mercy Kansas City, Division of Pediatric Endocrinology, 3101 Broadway Blvd, Kansas City, MO 64111 USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13633-018-0060-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050669PMC
July 2018

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

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.

View Article

Download full-text PDF

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

Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies.

Am J Med Genet A 2018 02 23;176(2):359-367. Epub 2017 Dec 23.

Department of Pathology, Children's Mercy Hospital, Kansas City, Missouri.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38577DOI Listing
February 2018

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.

BMC Med Genet 2017 11 2;18(1):124. Epub 2017 Nov 2.

Center for Pediatric Genomic Medicine, Children's Mercy Hospital, 2420 Pershing Road, Kansas City, MO, 64108, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12881-017-0481-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5668960PMC
November 2017

The complex relationship between personal sense of connection to animals and self-reported proenvironmental behaviors by zoo visitors.

Conserv Biol 2017 04 24;31(2):322-330. Epub 2017 Jan 24.

Smithsonian Conservation Biology Institute, Smithsonian-Mason School of Conservation, 1500 Remount Road, Front Royal, VA, 22630, U.S.A.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cobi.12780DOI Listing
April 2017

Immunodeficiency-Associated Lymphoid Hyperplasia As a Cause of Intussusception in a Case of Activated PI3K-δ Syndrome.

Front Pediatr 2017 19;5:71. Epub 2017 Apr 19.

Department of Pathology and Laboratory Medicine, University of Kansas School of Medicine, Kansas City, MO, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fped.2017.00071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395656PMC
April 2017

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

Am J Med Genet A 2016 12 9;170(12):3343-3346. Epub 2016 Sep 9.

Spectrum Health Hospitals, Grand Rapids, Michigan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37960DOI Listing
December 2016

Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing.

Clin Chem 2016 06 9;62(6):799-806. Epub 2016 Feb 9.

Director, Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Mercy, Kansas City, MO.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2015.247874DOI Listing
June 2016

PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.

Am J Med Genet A 2016 06 26;170(6):1585-9. Epub 2016 Mar 26.

Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37617DOI Listing
June 2016

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:

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Molecular diagnosis of infantile Neuro axonal Dystrophy by Next Generation Sequencing.

Indian J Pediatr 2015 May 29;82(5):474-7. Epub 2014 Oct 29.

Division of Genetics & Metabolism, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12098-014-1608-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390426PMC
May 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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Assessing relapse in multiple sclerosis questionnaire: results of a pilot study.

Mult Scler Int 2013 26;2013:470476. Epub 2013 May 26.

Department of Neurosciences, Loyola University Chicago, 2160 South First Avenue, Maywood, IL 60153, USA.

View Article

Download full-text PDF

Source
http://www.hindawi.com/journals/msi/2013/470476/
Publisher Site
http://dx.doi.org/10.1155/2013/470476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3677606PMC
June 2013

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
https://www.futuremedicine.com/doi/10.2217/pme.12.56
Publisher Site
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.

View Article

Download full-text PDF

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

Introduction: adherence to disease-modifying therapies--key to optimizing outcomes in relapsing multiple sclerosis.

J Neurosci Nurs 2010 Oct;42(5 Suppl):S1-4

Multiple Sclerosis Center at Wayne State University School of Medicine, Detroit, MI, USA.

View Article

Download full-text PDF

Source
October 2010

Injectable disease-modifying therapy for relapsing-remitting multiple sclerosis: a review of adherence data.

J Neurosci Nurs 2010 Oct;42(5 Suppl):S5-9

Multiple Sclerosis Center at Wayne State University School of Medicine, Detroit, MI, USA.

View Article

Download full-text PDF

Source
October 2010

Enhancing adherence through education.

J Neurosci Nurs 2010 Oct;42(5 Suppl):S19-29

Ft. Lauderdale MS Center, Pompano Beach, FL, USA.

View Article

Download full-text PDF

Source
October 2010

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.

View Article

Download full-text PDF

Source
http://www.liebertpub.com/doi/10.1089/gtmb.2009.0178
Publisher Site
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.

View Article

Download full-text PDF

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

Intrinsic and extrinsic rewards in a nonformal environmental education program.

Zoo Biol 2009 Sep;28(5):361-76

Utah State University, Logan, Utah 84322, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/zoo.20183DOI Listing
September 2009

Zoo experiences: conversations, connections, and concern for animals.

Zoo Biol 2009 Sep;28(5):377-97

Department of Psychology, The College of Wooster, Wooster, OH 44691, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/zoo.20186DOI Listing
September 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.

View Article

Download full-text PDF

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

Using psychology to save biodiversity and human well-being.

Conserv Biol 2006 Jun;20(3):702-5

Department of Conservation Psychology, Chicago Zoological Society, Brookfield, IL 60513, USA.

View Article

Download full-text PDF

Source
June 2006

Improving the readability of informed consent documents.

IRB 1993 May-Jun;15(3):10-1

View Article

Download full-text PDF

Source
December 1993