Bradford Coffee

Summary

Affiliation: Emory University
Country: USA

Publications

  1. pmc Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature
    Bradford Coffee
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Am J Med Genet A 146:1358-67. 2008
  2. ncbi request reprint Detection limit of intragenic deletions with targeted array comparative genomic hybridization
    S Hussain Askree
    Emory Genetics Laboratory, Department of Human Genetics, Emory University, 2165 N Decatur Road, Decatur, GA 30033, USA
    BMC Genet 14:116. 2013
  3. pmc Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testing
    Syed Hussain Askree
    Emory Genetics Laboratory, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
    J Mol Diagn 13:108-12. 2011
  4. pmc Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males
    Stephen C Collins
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Am J Med Genet A 152:2512-20. 2010
  5. pmc Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA
    Bradford Coffee
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Am J Hum Genet 85:503-14. 2009
  6. pmc Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies
    Patrick Yu-Wai-Man
    Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia, USA
    Ophthalmology 118:558-63. 2011
  7. ncbi request reprint Occupancy and synergistic activation of the FMR1 promoter by Nrf-1 and Sp1 in vivo
    Karen T Smith
    Department of Biochemistry and Graduate Program in Genetics and Molecular Biology, Emory University School of Medicine, Atlanta, GA 30322, USA
    Hum Mol Genet 13:1611-21. 2004
  8. doi request reprint Parent-of-origin testing for 15q11-q13 gains by quantitative DNA methylation analysis
    S Hussain Askree
    Emory Genetics Laboratory, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA
    J Mol Diagn 14:192-8. 2012
  9. ncbi request reprint Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene
    Bradford Coffee
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30033, USA
    Genet Med 8:635-40. 2006
  10. doi request reprint Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications
    Marwan K Tayeh
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genet Med 11:232-40. 2009

Collaborators

Detail Information

Publications14

  1. pmc Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature
    Bradford Coffee
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Am J Med Genet A 146:1358-67. 2008
    ..We review the literature of FMR1 deletions and present this case in the context of other FMR1 deletions having mental retardation that may or may not have the classic fragile X phenotype...
  2. ncbi request reprint Detection limit of intragenic deletions with targeted array comparative genomic hybridization
    S Hussain Askree
    Emory Genetics Laboratory, Department of Human Genetics, Emory University, 2165 N Decatur Road, Decatur, GA 30033, USA
    BMC Genet 14:116. 2013
    ..Here we describe the molecular characterization and breakpoint mapping of deletions at the smaller end of the detectable range in several genes using aCGH...
  3. pmc Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testing
    Syed Hussain Askree
    Emory Genetics Laboratory, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
    J Mol Diagn 13:108-12. 2011
    ..These findings illustrate that allelic dropout due to the presence of rare polymorphisms can cause false-positive results in commonly used MSP assays and lead to molecular misdiagnosis...
  4. pmc Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males
    Stephen C Collins
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Am J Med Genet A 152:2512-20. 2010
    ..These findings greatly expand the catalog of known FMR1 sequence variants and suggest that FMR1 sequence variants may represent an important cause of developmental delay...
  5. pmc Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA
    Bradford Coffee
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Am J Hum Genet 85:503-14. 2009
    ..Given the trials now underway for possible FXS treatments, this method could be used in newborn or infant screening as a way of ensuring early interventions for FXS...
  6. pmc Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies
    Patrick Yu-Wai-Man
    Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia, USA
    Ophthalmology 118:558-63. 2011
    ..The aim of this study was to determine the yield of OPA1 and OPA3 screening in a cohort of presumed DOA cases referred to a tertiary diagnostic laboratory...
  7. ncbi request reprint Occupancy and synergistic activation of the FMR1 promoter by Nrf-1 and Sp1 in vivo
    Karen T Smith
    Department of Biochemistry and Graduate Program in Genetics and Molecular Biology, Emory University School of Medicine, Atlanta, GA 30322, USA
    Hum Mol Genet 13:1611-21. 2004
    ..These findings provide the first direct in vivo evidence identifying the specific transcription factors that regulate FMR1...
  8. doi request reprint Parent-of-origin testing for 15q11-q13 gains by quantitative DNA methylation analysis
    S Hussain Askree
    Emory Genetics Laboratory, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA
    J Mol Diagn 14:192-8. 2012
    ....
  9. ncbi request reprint Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene
    Bradford Coffee
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30033, USA
    Genet Med 8:635-40. 2006
    ..The purpose of this study was to determine the deletion breakpoints, allowing the development of a rapid and reliable molecular test for the mutation...
  10. doi request reprint Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications
    Marwan K Tayeh
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genet Med 11:232-40. 2009
    ..To develop a high resolution microarray based method to detect single- and multiexons gene deletions and duplications...
  11. doi request reprint Methylation-specific PCR
    Bradford Coffee
    Emory University School of Medicine, Atlanta, Georgia, USA
    Curr Protoc Hum Genet . 2009
    ..MSP is rapid, inexpensive, and relatively simple to perform and provides a powerful tool to investigate these epigenetic processes...
  12. ncbi request reprint Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reaction
    Bradford Coffee
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genet Med 8:628-34. 2006
    ..Beckwith-Wiedemann Syndrome is caused by defects in imprinted gene expression at 11p15. Currently, quantitative Southern analysis using DNA methylation-sensitive restriction enzymes is used in molecular diagnosis of this syndrome...
  13. pmc Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome
    Bradford Coffee
    Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA
    Am J Hum Genet 71:923-32. 2002
    ..The identification of intermediates in the heterochromatinization of FMR1 has enabled us to begin to dissect the epigenetics of silencing of a disease-related gene in its natural chromosomal context...
  14. pmc Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria
    Meghan E Quirk
    Division of Biological and Biomedical Sciences, Nutrition and Health Sciences, Emory University, Atlanta, GA, USA
    Mol Genet Metab 107:31-6. 2012
    ..The clinical interpretation of BH(4) responsiveness should be evaluated within the context of phenylalanine hydroxylase (PAH) genotype...