Research Topics
| Bradford CoffeeSummaryAffiliation: Emory University Country: USA Publications
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Publications
Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literatureBradford 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...- Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testingSyed 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... - Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed malesStephen 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... - Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNABradford 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... - Occupancy and synergistic activation of the FMR1 promoter by Nrf-1 and Sp1 in vivoKaren 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... - Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathiesPatrick 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... - Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) geneBradford Coffee
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30033, USA
Genet Med 8:635-40. 2006..Many of the individuals carrying the allele were of Ashkenazi Jewish ancestry suggesting that the deletion may be a common cause of galactosemia in that population... - Methylation-specific PCRBradford 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... - Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplicationsMarwan 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... - Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reactionBradford Coffee
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
Genet Med 8:628-34. 2006..Moreover, this approach can be modified to assess DNA methylation changes anywhere in the genome... - Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndromeBradford 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...