Research Topics
Species | Feras M HantashSummaryAffiliation: Quest Diagnostics Country: USA Publications
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Detail Information
Publications
Direct visualization of cystic fibrosis transmembrane regulator mutations in the clinical laboratory settingCharles M Strom
Nichols Institute, Quest Diagnostics, San Juan Capistrano, CA, USA
Clin Chem 50:836-45. 2004....
FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency iFeras M Hantash
Department of Molecular Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92690, USA
Genet Med 13:39-45. 2011..We sought to determine the frequency of fragile X syndrome premutation (55-200 repeats) and full mutation (>200 repeats) alleles in nonselected, unbiased populations undergoing routine carrier screening for other diseases...
Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screeningFeras M Hantash
Department of Molecular Genetics, Nichols Institute, Quest Diagnostics, San Juan Capistrano, California 92690, USA
Genet Med 12:162-73. 2010..We describe a triplet-primed polymerase chain reaction-based method using automated capillary electrophoresis detection for qualitative assessment of expanded CGG repeats...
Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletionFeras M Hantash
Department of Molecular Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, California 92690, USA
J Mol Diagn 11:253-6. 2009..These data highlight the need to prevent misdiagnosis of homozygous mutations, which can lead to misinterpretation of mutation penetrance and its effects on protein function...
Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator geneFeras M Hantash
Quest Diagnostics Nichols Institute, Molecular Genetics, 33608 Ortega Hwy, San Juan Capistrano, CA 92690, USA
J Mol Diagn 9:556-60. 2007..The duplication breakpoint is identical in all three patients, suggesting a likely founder mutation...
Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish populationFeras M Hantash
Department of Molecular Genetics, Quest Diagnostics Incorporated, Nichols Institute, San Juan Capistrano, California 92690, USA
J Mol Diagn 8:282-7. 2006..This automated high-throughput assay is labor saving, because two mutations can be detected in a single reaction. The method has potential for use in other assays requiring simultaneous detection of two mutations...
Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screeningFeras M Hantash
Department of Molecular Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA
Hum Genet 119:126-36. 2006..Screening for exon deletions and duplications in the CFTR gene would be beneficial in classic CF cases, especially when only one mutation is identified by standard methodologies...
Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samplesMatthew J McGinniss
Molecular Genetics Laboratory, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA, 92690 6130, USA
Hum Genet 118:331-8. 2005..This enables carrier detection and prenatal diagnosis in additional family members...
A large deletion in the CFTR gene in CBAVDFeras M Hantash
Department of Molecualr Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92690, USA
Genet Med 8:93-5. 2006..We looked for such mutations in congenital bilateral absence of the vas deferens patients in whom routine screening assays had identified only one or no cystic fibrosis transmembrane regulator gene mutations...
Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndromeCharles M Strom
Quest Diagnostics, Nichols Institute, San Juan Capistrano, California 92690, USA
Genet Med 9:199-207. 2007..To develop a high-throughput, automated, accurate method suitable for population-based carrier detection of fragile X syndrome...
Genetically characterized positive control cell lines derived from residual clinical blood samplesSusan H Bernacki
Department of Pathology, Duke University Medical Center, Durham, NC, USA
Clin Chem 51:2013-24. 2005..Sustainable implementation of the process could help alleviate the current shortage of positive control materials...
