Kelly Schoch

Kelly Schoch

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Kelly Schoch

Kelly Schoch

Publications by authors named "Kelly Schoch"

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Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

J Genet Couns 2018 08 2;27(4):935-946. Epub 2018 Jan 2.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.1007/s10897-017-0193-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028305PMC
August 2018

Annotating pathogenic non-coding variants in genic regions.

Nat Commun 2017 08 9;8(1):236. Epub 2017 Aug 9.

Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, 10032, USA.

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http://dx.doi.org/10.1038/s41467-017-00141-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550444PMC
August 2017

The importance of dynamic re-analysis in diagnostic whole exome sequencing.

J Med Genet 2017 03 29;54(3):155-156. Epub 2016 Nov 29.

Institute for Genomic Medicine, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1136/jmedgenet-2016-104306DOI Listing
March 2017

Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.

J Genet Couns 2016 10 12;25(5):1019-31. Epub 2016 Feb 12.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Box 103757, Durham, NC, 27710, USA.

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http://dx.doi.org/10.1007/s10897-016-9933-1DOI Listing
October 2016

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
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http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

Epilepsy in KCNH1-related syndromes.

Epileptic Disord 2016 Jun;18(2):123-36

Pediatric Neurology Division Department of Pediatrics, Child Neurology and Psychiatry, Sapienza-University of Rome, Rome, Italy.

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http://dx.doi.org/10.1684/epd.2016.0830DOI Listing
June 2016

Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project.

J Genet Couns 2016 Feb 18;25(1):6-17. Epub 2015 Nov 18.

Genetic Counseling Program, University of North Carolina at Greensboro, Greensboro, NC, USA.

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http://dx.doi.org/10.1007/s10897-015-9910-0DOI Listing
February 2016

Parental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion Syndrome.

J Genet Couns 2015 Oct 27;24(5):752-9. Epub 2014 Dec 27.

University of North Carolina-Greensboro, Greensboro, NC, USA.

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http://dx.doi.org/10.1007/s10897-014-9806-4DOI Listing
October 2015

Feasibility and preliminary efficacy data from a computerized cognitive intervention in children with chromosome 22q11.2 deletion syndrome.

Res Dev Disabil 2013 Sep 7;34(9):2606-13. Epub 2013 Jun 7.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.

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http://dx.doi.org/10.1016/j.ridd.2013.05.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3724343PMC
September 2013

A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome.

Res Dev Disabil 2013 May 16;34(5):1758-69. Epub 2013 Mar 16.

Department of Psychiatry and The Carolina Institute for Developmental Disabilities, University of North Carolina School of Medicine, CB# 7255, Chapel Hill, NC 27599-7255, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S08914222120032
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http://dx.doi.org/10.1016/j.ridd.2012.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3783943PMC
May 2013

Assessment of parental disclosure of a 22q11.2 deletion syndrome diagnosis and implications for clinicians.

J Genet Couns 2012 Dec 31;21(6):835-44. Epub 2012 Aug 31.

Genetic Counseling Program, University of North Carolina at Greensboro, Greensboro, NC, USA.

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http://link.springer.com/10.1007/s10897-012-9535-5
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http://dx.doi.org/10.1007/s10897-012-9535-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3508376PMC
December 2012

Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.

Am J Med Genet A 2011 Sep 10;155A(9):2186-95. Epub 2011 Aug 10.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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http://dx.doi.org/10.1002/ajmg.a.34226DOI Listing
September 2011

Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation.

Eur J Med Genet 2011 Jan-Feb;54(1):63-6. Epub 2010 Sep 29.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27712, USA.

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http://dx.doi.org/10.1016/j.ejmg.2010.09.004DOI Listing
June 2011

Discordance in Diagnoses and Treatment of Psychiatric Disorders in Children and Adolescents with 22q11.2 Deletion Syndrome.

Asian J Psychiatr 2011 Jun;4(2):119-124

Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC., USA.

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http://dx.doi.org/10.1016/j.ajp.2011.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129857PMC
June 2011

Pseudometabolic presentation of dystrophinopathy due to a missense mutation.

Muscle Nerve 2010 Dec;42(6):975-9

Swami Clinic, Jayam Diabetic Center, Nalladai Road, Sembanarkoil, Nagai Dt., Tamilnadu 609309, India.

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http://dx.doi.org/10.1002/mus.21823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5506871PMC
December 2010

COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome.

Psychiatry Res 2010 Jul 20;178(2):433-6. Epub 2010 May 20.

Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, North Carolina 27710, USA.

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http://dx.doi.org/10.1016/j.psychres.2010.04.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3645485PMC
July 2010

A subset of mouse tracheal epithelial basal cells generates large colonies in vitro.

Am J Physiol Lung Cell Mol Physiol 2004 Apr 5;286(4):L631-42. Epub 2003 Sep 5.

UNC CF Cente, CB 7248, Rm. 4011 Thurston-Bowles, Chapel Hill, NC 27599, USA.

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http://dx.doi.org/10.1152/ajplung.00112.2003DOI Listing
April 2004