Feras M Hantash
Affiliation: Quest Diagnostics
- 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..We describe the development and technical validation of a DNA chip in a 96-well format to allow for high-throughput genotype analysis...
- 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....