Deborah Stabley

Deborah Stabley

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Deborah Stabley

Deborah Stabley

Publications by authors named "Deborah Stabley"

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Medically actionable comorbidities in adults with Costello syndrome.

Am J Med Genet A 2020 Jan 3;182(1):130-136. Epub 2019 Nov 3.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.61394DOI Listing
January 2020

Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.

Neuromuscul Disord 2017 May 6;27(5):439-446. Epub 2017 Feb 6.

Center for Applied Clinical Genomics, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Center for Pediatric Research, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA; Department of Biological Sciences, University of Delaware, Newark, DE, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5403612PMC
May 2017

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.

Am J Med Genet A 2017 May 3;173(5):1309-1318. Epub 2017 Apr 3.

Center for Applied Clinical Genomics, A. I. duPont Hospital for Children/Nemours, Wilmington, Delaware.

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http://dx.doi.org/10.1002/ajmg.a.38178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397353PMC
May 2017

Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome.

Am J Med Genet A 2017 May 4;173(5):1294-1300. Epub 2017 Apr 4.

Section of Psychology, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.38174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397350PMC
May 2017

Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient.

Front Oncol 2017 3;7:42. Epub 2017 Apr 3.

High-Throughput Screening and Drug Discovery Laboratory, Nemours Center for Childhood Cancer Research, Nemours Biomedical Research, Nemours/A.I. duPont Hospital for Children, Wilmington, DE, USA.

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http://dx.doi.org/10.3389/fonc.2017.00042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376947PMC
April 2017

SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.

Mol Genet Genomic Med 2015 Jul 21;3(4):248-57. Epub 2015 Mar 21.

Center for Applied Clinical Genomics, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children Wilmington, Delaware ; Department of Biological Sciences, University of Delaware Newark, Delaware ; Center for Pediatric Research, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children Wilmington, Delaware ; Department of Pediatrics, Thomas Jefferson University Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/mgg3.141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521962PMC
July 2015

An integrated approach for analyzing clinical genomic variant data from next-generation sequencing.

J Biomol Tech 2015 Apr;26(1):19-28

1 Center for Bioinformatics and Computational Biology, and 2 Biomolecular Core Laboratory, Nemours Alfred I. duPont Hospital for Children Wilmington, Delaware 19803, USA; and 3 Department of Biological Sciences, University of Delaware, Newark, Delaware 19711, USA.

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http://dx.doi.org/10.7171/jbt.15-2601-002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310222PMC
April 2015

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.

Am J Med Genet A 2015 Feb 13;167A(2):271-81. Epub 2014 Nov 13.

Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, Delaware, and Sidney Kimmel Medical School at T. Jefferson University, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589071PMC
February 2015

Verbal memory functioning in adolescents and young adults with Costello syndrome: evidence for relative preservation in recognition memory.

Am J Med Genet A 2013 Sep 5;161A(9):2258-65. Epub 2013 Aug 5.

Section of Psychology, Department of Pediatrics, Baylor College of Medicine/Texas Children's Hospital, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.36078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3745536PMC
September 2013

Assessing genotype-phenotype correlation in Costello syndrome using a severity score.

Genet Med 2013 Jul 21;15(7):554-7. Epub 2013 Feb 21.

Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.

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http://dx.doi.org/10.1038/gim.2013.6DOI Listing
July 2013

Normative growth charts for individuals with Costello syndrome.

Am J Med Genet A 2012 Nov 7;158A(11):2692-9. Epub 2012 Aug 7.

Division of General Pediatrics, A. I. duPont Hospital for Children, Wilmington, Delaware 19803, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35534
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http://dx.doi.org/10.1002/ajmg.a.35534DOI Listing
November 2012

Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.

Am J Med Genet A 2012 May 9;158A(5):1095-101. Epub 2012 Apr 9.

Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA.

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http://dx.doi.org/10.1002/ajmg.a.35294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4164267PMC
May 2012

Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.

Am J Med Genet A 2011 Sep 10;155A(9):2263-8. Epub 2011 Aug 10.

Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA.

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http://dx.doi.org/10.1002/ajmg.a.34150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3158836PMC
September 2011

CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review.

Am J Med Genet A 2011 Mar 18;155A(3):605-11. Epub 2011 Feb 18.

Department of Pediatrics, University Hospital of Heraklion, Crete, Greece.

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http://dx.doi.org/10.1002/ajmg.a.33787DOI Listing
March 2011

Living with Costello syndrome: quality of life issues in older individuals.

Am J Med Genet A 2010 Jan;152A(1):84-90

Division of Medical Genetics, Alfred I. duPont Hospital for Children, Nemours' Children's Clinic, 1600 Rockland Rd., Wilmington, DE 19803, USA.

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http://dx.doi.org/10.1002/ajmg.a.33147DOI Listing
January 2010

Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome.

Am J Med Genet A 2009 Dec;149A(12):2666-72

Psychology Service, Department of Pediatrics, Texas Children's Hospital, Psychology Section, Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.33126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2787985PMC
December 2009

Longitudinal assessment of cognitive characteristics in Costello syndrome.

Am J Med Genet A 2007 Dec;143A(24):3185-93

Learning Support Center for Child Psychology, Department of Pediatrics, Texas Children's Hospital, Child Psychology, Allied Health Sciences, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.31968DOI Listing
December 2007

Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.

Am J Med Genet A 2007 Jul;143A(13):1481-8

Department of Pediatrics,University of Virginia Health System, Charlottesville, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.31819DOI Listing
July 2007

Failure of shortening and inversion of the perinatal gubernaculum in the cryptorchid long-evans orl rat.

J Urol 2006 Oct;176(4 Pt 1):1612-7

Urology Research Laboratory, A. I. duPont Hospital for Children/Nemours Children's Clinic, Wilmington, Delaware, USA.

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http://dx.doi.org/10.1016/j.juro.2006.06.063DOI Listing
October 2006

Somatic mosaicism for an HRAS mutation causes Costello syndrome.

Am J Med Genet A 2006 Oct;140(20):2163-9

Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware 19899, USA.

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http://dx.doi.org/10.1002/ajmg.a.31456DOI Listing
October 2006

Paternal bias in parental origin of HRAS mutations in Costello syndrome.

Hum Mutat 2006 Aug;27(8):736-41

Department of Biomedical Research, Nemours' Children's Clinic, Wilmington, Delaware, USA.

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http://dx.doi.org/10.1002/humu.20381DOI Listing
August 2006

Murine Spam1 mRNA: involvement of AU-rich elements in the 3'UTR and antisense RNA in its tight post-transcriptional regulation in spermatids.

Mol Reprod Dev 2006 Feb;73(2):247-55

Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA.

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http://dx.doi.org/10.1002/mrd.20400DOI Listing
February 2006

Exploring whole genome amplification as a DNA recovery tool for molecular genetic studies.

J Biomol Tech 2005 Jun;16(2):125-33

Director, Biomolecular Core Lab, 1600 Rockland Road, Suite H-3B Room 336, Wilmington, DE. 19899, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2291715PMC
June 2005

Evolution of placental proteases.

Biol Chem 2002 Jul-Aug;383(7-8):1113-8

Laboratory of Clinical Biochemistry, Nemours Childrens Clinic, Alfred I. duPont Hospital for Children, Wilmington, DE 19899, USA

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http://dx.doi.org/10.1515/BC.2002.120DOI Listing
July 2003

A PLP splicing abnormality is associated with an unusual presentation of PMD.

Ann Neurol 2002 Oct;52(4):477-88

Department of Research, Alfred I. duPont Hospital for Children, Wilmington, DE, USA.

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http://doi.wiley.com/10.1002/ana.10320
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http://dx.doi.org/10.1002/ana.10320DOI Listing
October 2002

Evolution of placentally expressed cathepsins.

Biochem Biophys Res Commun 2002 Apr;293(1):23-9

Laboratory of Clinical Biochemistry, Alfred I duPont Hospital for Children, P.O. Box 269, Wilmington, DE 19899, USA.

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http://dx.doi.org/10.1016/S0006-291X(02)00167-5DOI Listing
April 2002