Publications by authors named "Robert E Pyatt"

21Publications

Impact of variant reclassification in the clinical setting of cardiovascular genetics.

J Genet Couns 2020 Oct 7. Epub 2020 Oct 7.

Division of Human Genetics, The Ohio State University, Columbus, OH, USA.

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http://dx.doi.org/10.1002/jgc4.1336DOI Listing
October 2020

Understanding Mutation Carriers' Preferences for Communication of Genetic Modifiers of Breast Cancer Risk.

J Health Commun 2019 6;24(4):377-384. Epub 2019 May 6.

b Cancer Biology and Genetics, Comprehensive Cancer Center , The Ohio State University , Columbus , USA.

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http://dx.doi.org/10.1080/10810730.2019.1604912DOI Listing
September 2020

CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

Eur J Med Genet 2020 Jan 2;63(1):103636. Epub 2019 Mar 2.

Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH, 43205, USA; The Ohio State University College of Medicine, Columbus, OH, 43210, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.02.008DOI Listing
January 2020

Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11.

Am J Med Genet A 2017 Apr;173(4):1056-1060

Departmentof Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.38098DOI Listing
April 2017

Variability in pathogenicity prediction programs: impact on clinical diagnostics.

Mol Genet Genomic Med 2015 Mar 3;3(2):99-110. Epub 2014 Dec 3.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio ; Department of Pathology, The Ohio State University College of Medicine Columbus, Ohio.

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http://dx.doi.org/10.1002/mgg3.116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367082PMC
March 2015

Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.

Eur J Med Genet 2014 Jul 10;57(7):315-8. Epub 2014 May 10.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.04.018DOI Listing
July 2014

Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.

Forensic Sci Int Genet 2013 Sep 28;7(5):475-81. Epub 2013 Jun 28.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.

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http://dx.doi.org/10.1016/j.fsigen.2013.05.008DOI Listing
September 2013

Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.

Eur J Med Genet 2013 Sep 26;56(9):521-5. Epub 2013 Jul 26.

Department of Pediatrics, The Ohio State University College of Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.07.004DOI Listing
September 2013

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Eur J Hum Genet 2014 Jan 1;22(1):57-63. Epub 2013 May 1.

1] Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [2] Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865402PMC
January 2014

12q14 microdeletion associated with HMGA2 gene disruption and growth restriction.

Am J Med Genet A 2012 Nov 14;158A(11):2925-30. Epub 2012 Sep 14.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.

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http://dx.doi.org/10.1002/ajmg.a.35610DOI Listing
November 2012

Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients.

Am J Med Genet A 2012 Aug 11;158A(8):1924-33. Epub 2012 Jul 11.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, and The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.

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http://dx.doi.org/10.1002/ajmg.a.35477DOI Listing
August 2012

Interpretation of copy number alterations identified through clinical microarray-comparative genomic hybridization.

Clin Lab Med 2011 Dec;31(4):565-80, viii

Cytogenetics and Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.

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http://dx.doi.org/10.1016/j.cll.2011.08.007DOI Listing
December 2011

Newborn and carrier screening for spinal muscular atrophy.

Am J Med Genet A 2010 Jul;152A(7):1608-16

Department of Pathology, The Ohio State University, Columbus, Ohio 43210, USA.

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http://dx.doi.org/10.1002/ajmg.a.33474DOI Listing
July 2010

Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy.

Clin Chem 2007 Nov 21;53(11):1879-85. Epub 2007 Sep 21.

Department of Pathology, Ohio State University, Columbus, OH 43210, USA.

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http://dx.doi.org/10.1373/clinchem.2007.092312DOI Listing
November 2007

A feasibility study for the newborn screening of spinal muscular atrophy.

Genet Med 2006 Jul;8(7):428-37

Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA.

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http://dx.doi.org/10.1097/01.gim.0000227970.60450.b2DOI Listing
July 2006

Mutation screening in juvenile polyposis syndrome.

J Mol Diagn 2006 Feb;8(1):84-8

Department of Pathology, Ohio State University, Hamilton Hall 125, 1645 Neil Ave., Columbus, OH 43210, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1867574PMC
http://dx.doi.org/10.2353/jmoldx.2006.050072DOI Listing
February 2006