Publications by authors named "Bradford Coffee"

28Publications

Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2018 Jan 26;20(1):3-11. Epub 2017 Oct 26.

Myriad Genetics, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1038/gim.2017.172DOI Listing
January 2018

Identification of pathogenic retrotransposon insertions in cancer predisposition genes.

Cancer Genet 2017 Oct 24;216-217:159-169. Epub 2017 Aug 24.

Myriad Genetic Laboratories, Inc., 320 Wakara Way, Salt Lake City, UT 84108, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2017.08.002DOI Listing
October 2017

Detection of somatic variants in peripheral blood lymphocytes using a next generation sequencing multigene pan cancer panel.

Cancer Genet 2017 02 16;211:5-8. Epub 2017 Jan 16.

Myriad Genetic Laboratories, Inc., 320 Wakara Way, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1016/j.cancergen.2017.01.002DOI Listing
February 2017

Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish.

Muscle Nerve 2015 May 17;51(5):767-72. Epub 2015 Feb 17.

Department of Neurology, Columbia University, 180 Fort Washington Avenue, New York, New York, 10032, USA.

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http://dx.doi.org/10.1002/mus.24528DOI Listing
May 2015

Detection limit of intragenic deletions with targeted array comparative genomic hybridization.

BMC Genet 2013 Dec 5;14:116. Epub 2013 Dec 5.

Emory Genetics Laboratory, Department of Human Genetics, Emory University, 2165 N Decatur Road, Decatur, GA 30033, USA.

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http://dx.doi.org/10.1186/1471-2156-14-116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235222PMC
December 2013

A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4'-epimerase (GALE) : A Complex Case of Variant GALE.

JIMD Rep 2013 1;7:89-98. Epub 2012 Jul 1.

Department of Human Genetics, Emory University, School of Medicine, Room 325.2 Whitehead Building, 615 Michael Street, Atlanta, GA, 30322, USA.

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http://dx.doi.org/10.1007/8904_2012_153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3575048PMC
February 2013

Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.

Mol Genet Metab 2012 Sep 20;107(1-2):31-6. Epub 2012 Jul 20.

Division of Biological and Biomedical Sciences, Nutrition and Health Sciences, Emory University, Atlanta, GA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4029439PMC
September 2012

Parent-of-origin testing for 15q11-q13 gains by quantitative DNA methylation analysis.

J Mol Diagn 2012 May-Jun;14(3):192-8. Epub 2012 Mar 14.

Emory Genetics Laboratory, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

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http://dx.doi.org/10.1016/j.jmoldx.2012.01.005DOI Listing
September 2012

Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testing.

J Mol Diagn 2011 Jan 23;13(1):108-12. Epub 2010 Dec 23.

Emory Genetics Laboratory, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1016/j.jmoldx.2010.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3069869PMC
January 2011

A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.

J Mol Diagn 2010 Sep 15;12(5):607-10. Epub 2010 Jul 15.

Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.2353/jmoldx.2010.100011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2928424PMC
September 2010

Commentary on population screening for fragile X syndrome.

Authors:
Bradford Coffee

Genet Med 2010 Jul;12(7):411-2

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181e5c804DOI Listing
July 2010

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

Am J Hum Genet 2009 Oct;85(4):503-14

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1016/j.ajhg.2009.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2756550PMC
October 2009

Methylation-specific PCR.

Authors:
Bradford Coffee

Curr Protoc Hum Genet 2009 Apr;Chapter 10:Unit 10.6

Emory University School of Medicine, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1002/0471142905.hg1006s61DOI Listing
April 2009

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications.

Genet Med 2009 Apr;11(4):232-40

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.1097/GIM.0b013e318195e191DOI Listing
April 2009

Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene.

Genet Med 2006 Oct;8(10):635-40

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30033, USA.

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http://dx.doi.org/10.1097/01.gim.0000237720.78475.fbDOI Listing
October 2006

Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reaction.

Genet Med 2006 Oct;8(10):628-34

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.1097/01.gim.0000237770.42442.ccDOI Listing
October 2006

Occupancy and synergistic activation of the FMR1 promoter by Nrf-1 and Sp1 in vivo.

Hum Mol Genet 2004 Aug 2;13(15):1611-21. Epub 2004 Jun 2.

Department of Biochemistry and Graduate Program in Genetics and Molecular Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1093/hmg/ddh172DOI Listing
August 2004

Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome.

Am J Hum Genet 2002 Oct 13;71(4):923-32. Epub 2002 Sep 13.

Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1086/342931DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC378545PMC
October 2002