Charles M Strom

Summary

Affiliation: Quest Diagnostics
Country: USA

Publications

  1. ncbi request reprint Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples
    Charles M Strom
    Molecular Genetics Laboratory, Quest Diagnostics Nichols Institute, San Juan Capistrano, California
    Genet Med 4:289-96. 2002
  2. pmc Measurement of cetuximab and panitumumab-unbound serum EGFR extracellular domain using an assay based on slow off-rate modified aptamer (SOMAmer) reagents
    Noh Jin Park
    Quest Diagnostics Nichols Institute San Juan Capistrano, San Juan Capistrano, California, United States of America
    PLoS ONE 8:e71703. 2013
  3. doi request reprint Changing trends in laboratory testing in the United States: a personal, historical perspective
    Charles M Strom
    Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675 2042, USA
    Clin Lab Med 32:651-64. 2012
  4. pmc The sensitivity and specificity of hyperglycosylated hCG (hhCG) levels to reliably diagnose clinical IVF pregnancies at 6 days following embryo transfer
    Charles M Strom
    Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675 2042, USA
    J Assist Reprod Genet 29:609-14. 2012
  5. doi request reprint The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data
    Charles M Strom
    Nichols Institute Quest Diagnostics, San Juan Capistrano, California 92675 2042, USA
    Genet Med 13:1042-4. 2011
  6. pmc Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory
    Arturo Anguiano
    Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92690, USA
    Mol Cytogenet 5:3. 2012
  7. doi request reprint Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory
    Charles M Strom
    Genetic Testing Center, Nichols Institute Quest Diagnostics, San Juan Capistrano, California, USA
    Genet Med 14:95-100. 2012
  8. ncbi request reprint Mutation detection, interpretation, and applications in the clinical laboratory setting
    Charles M Strom
    Genetic Testing Center, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690, USA
    Mutat Res 573:160-7. 2005
  9. pmc Technical validation of a TM Biosciences Luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel
    Charles M Strom
    Genetic Testing Center, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690, USA
    J Mol Diagn 8:371-5. 2006
  10. ncbi request reprint Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory
    Charles M Strom
    Nichols Institute, Quest Diagnostics, 33608 Ortega Highway, San Juan Capistrano, California 92690, USA
    Genet Med 9:46-51. 2007

Collaborators

Detail Information

Publications38

  1. ncbi request reprint Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples
    Charles M Strom
    Molecular Genetics Laboratory, Quest Diagnostics Nichols Institute, San Juan Capistrano, California
    Genet Med 4:289-96. 2002
    ..To determine the accuracy of two commercially available kits for cystic fibrosis (CF) genotyping and determine allele frequencies for the ACMG/ACOG recommended mutations...
  2. pmc Measurement of cetuximab and panitumumab-unbound serum EGFR extracellular domain using an assay based on slow off-rate modified aptamer (SOMAmer) reagents
    Noh Jin Park
    Quest Diagnostics Nichols Institute San Juan Capistrano, San Juan Capistrano, California, United States of America
    PLoS ONE 8:e71703. 2013
    ..We describe the development of an assay based on Slow Off-rate Modified Aptamer (SOMAmer(™)) reagents that can distinguish drug-bound from unbound epidermal growth factor receptor (EGFR)...
  3. doi request reprint Changing trends in laboratory testing in the United States: a personal, historical perspective
    Charles M Strom
    Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675 2042, USA
    Clin Lab Med 32:651-64. 2012
    ..Next came time in a small molecular laboratory performing diagnosis and testing services. My current position is with a national commercial laboratory company...
  4. pmc The sensitivity and specificity of hyperglycosylated hCG (hhCG) levels to reliably diagnose clinical IVF pregnancies at 6 days following embryo transfer
    Charles M Strom
    Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675 2042, USA
    J Assist Reprod Genet 29:609-14. 2012
    ..To determine if a single, early hhCG measurement can discriminate between biochemical and clinical pregnancies...
  5. doi request reprint The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data
    Charles M Strom
    Nichols Institute Quest Diagnostics, San Juan Capistrano, California 92675 2042, USA
    Genet Med 13:1042-4. 2011
    ..L997F. Our laboratory has already received two invasive prenatal diagnostic samples where one parent carries a classic CF mutation and the other carries p.L997F. One fetus inherited both variants...
  6. pmc Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory
    Arturo Anguiano
    Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92690, USA
    Mol Cytogenet 5:3. 2012
    ....
  7. doi request reprint Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory
    Charles M Strom
    Genetic Testing Center, Nichols Institute Quest Diagnostics, San Juan Capistrano, California, USA
    Genet Med 14:95-100. 2012
    ..We sought to determine the genotype frequencies for cytochrome p450 enzyme 2C19 variant alleles both in the US pan-ethnic population and various US ethnic groups and to establish the frequency of clinically actionable genotypes...
  8. ncbi request reprint Mutation detection, interpretation, and applications in the clinical laboratory setting
    Charles M Strom
    Genetic Testing Center, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690, USA
    Mutat Res 573:160-7. 2005
    ..The potential for irrevocable medical interventions following a positive mutation analysis is highlighted to stress the imperative for accuracy in mutation detection and vigilance in the clinical arena...
  9. pmc Technical validation of a TM Biosciences Luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel
    Charles M Strom
    Genetic Testing Center, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690, USA
    J Mol Diagn 8:371-5. 2006
    ..In conclusion, both the Abbott/Celera ASR reagent and the Luminex-based Tag-It CF ASR reagent are appropriate for use in the clinical laboratory...
  10. ncbi request reprint Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory
    Charles M Strom
    Nichols Institute, Quest Diagnostics, 33608 Ortega Highway, San Juan Capistrano, California 92690, USA
    Genet Med 9:46-51. 2007
    ..To examine the data from over 119,000 Fragile X Syndrome tests and 307 prenatal tests to detect unsuspected findings and obtain clinical data when indicated to optimize genetic counseling...
  11. ncbi request reprint Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome
    Charles 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...
  12. doi request reprint Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis
    Charles M Strom
    Nichols Institute, Quest Diagnostics, Genetic Testing Center, 33608 Ortega Highway, San Juan Capistrano, San Juan Capistrano, California 92675 2042, USA
    Genet Med 13:166-72. 2011
    ....
  13. ncbi request reprint Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples
    Matthew 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...
  14. ncbi request reprint Cystic fibrosis screening: lessons learned from the first 320,000 patients
    Charles M Strom
    Medical Director, Genetics, Nichols Institute, Quest Diagnostics, 33608 Ortega Highway, San Juan Capistrano, CA 92690, USA
    Genet Med 6:136-40. 2004
    ..To examine the data from > 335,000 Cystic fibrosis (CF) tests to detect unsuspected findings and obtain clinical data when indicated to optimize genetic counseling...
  15. ncbi request reprint Detection of 677CT/1298AC "double variant" chromosomes: implications for interpretation of MTHFR genotyping results
    Nicholas M Brown
    Department of Molecular Genetics, Quest Diagnostics, Nichols Institute, Chantilly, Virginia 20151, USA
    Genet Med 7:278-82. 2005
    ..Genotyping 37,026 individuals as part of a thrombophilia evaluation, we determined and analyzed the genotypic frequencies of the 677CT and 1298AC mutations in the methylenetetrahydrofolate reductase (MTHFR) gene...
  16. ncbi request reprint Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening
    Feras 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...
  17. ncbi request reprint Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test
    Charles M Strom
    Molecular Genetics Laboratory, Quest Diagnostics Nichols Institute, San Juan Capistrano, California 92690, USA
    Genet Med 5:9-14. 2003
    ..To develop a sequencing assay for the gene to identify mutations in patients with cystic fibrosis (CF)...
  18. ncbi request reprint A large deletion in the CFTR gene in CBAVD
    Feras 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...
  19. pmc Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene
    Feras 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...
  20. ncbi request reprint Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent
    Charles M Strom
    Genetic Testing Center, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92690, USA
    Genet Med 7:633-9. 2005
    ..This study determines the analytic accuracy of a Luminex bead-based commercial analyte-specific reagent for the simultaneous analysis of 30 mutations prevalent in Ashkenazi Jews at eight genetic disease loci...
  21. ncbi request reprint Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis
    Noh Jin Park
    Molecular Genetics Department, Quest Diagnostics Nichols Institute, San Juan Capistrano, California 92690, USA
    Pediatr Res 67:217-20. 2010
    ....
  22. ncbi request reprint 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 screening
    Feras 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...
  23. doi request reprint 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 i
    Feras 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...
  24. ncbi request reprint Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory
    Charles M Strom
    Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690, USA
    Genet Med 6:145-52. 2004
    ..To determine the frequency of carriers of Ashkenazi Jewish (AJ) genetic diseases in the US population and compare these numbers with previously published frequencies reported in smaller more isolated cohorts...
  25. pmc Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population
    Feras 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...
  26. doi request reprint Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations
    Mario Mikula
    Quest Diagnostics Nichols Institute, San Juan Capistrano, California 92690, USA
    Genet Med 10:349-52. 2008
    ..To determine the carrier frequency of familial Mediterranean fever (FMF) mutations of individuals in three different US testing populations: Cystic fibrosis, Factor V Leiden, and Ashkenazi Jews...
  27. pmc Development of a web-based query tool for quality assurance of clinical molecular genetic test results
    Matthew J McGinniss
    Molecular Genetics Laboratory, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690 6130, USA
    J Mol Diagn 9:95-8. 2007
    ..This simplified process enables timely compliance with a College of American Pathologists checklist item...
  28. ncbi request reprint Population-based carrier screening and prenatal diagnosis
    Charles M Strom
    Genetic Testing Center, Quest Diagnostics, Nichols Institute in San Juan Capistrano, CA, USA
    MLO Med Lab Obs 36:12-7; quiz 20-1. 2004
  29. pmc Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion
    Feras 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...
  30. ncbi request reprint Direct visualization of cystic fibrosis transmembrane regulator mutations in the clinical laboratory setting
    Charles 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...
  31. ncbi request reprint High-throughput gene sequencing assay development for hereditary nonpolyposis colon cancer
    Donghui Huang
    Nichols Institute, Quest Diagnostics, Inc, San Juan Capistrano, CA 92690 6130, USA
    Clin Colorectal Cancer 4:275-9. 2004
    ..It is anticipated that our high-throughput assay technique will provide accurate diagnoses for patients at risk for HNPCC and thereby facilitate early curative intervention...
  32. ncbi request reprint Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T
    Arlene Buller
    Molecular Genetics Department, Nichols Institute, Quest Diagnostics, San Juan Capistrano, California 92690, USA
    Genet Med 6:108-9. 2004
    ..To determine the carrier frequency of the 3199del6 cystic fibrosis (CF) mutation in individuals heterozygous for I148T in a large-scale CF testing population...
  33. ncbi request reprint From peapods to laboratory medicine: molecular diagnostics of inheritable diseases
    Harvey W Kaufman
    Quest Diagnostics Nichols Institute, Teterboro, NJ, USA
    MLO Med Lab Obs 35:30-2, 36, 38 passim. 2003
  34. pmc Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
    Michael S Watson
    ACMG Cystic Fibrosis Carrier Screening Work Group, American College of Medical Genetics, Bethesda, Maryland 20814, USA
    Genet Med 6:387-91. 2004
  35. ncbi request reprint Current challenges in cystic fibrosis screening
    Charles M Strom
    Arch Pathol Lab Med 128:366; author reply 366. 2004
  36. ncbi request reprint Sequence variations in AGTR2 are unlikely to be associated with X-linked mental retardation
    Donghui Huang
    Am J Med Genet A 139:243-4. 2005
  37. ncbi request reprint Genetically characterized positive control cell lines derived from residual clinical blood samples
    Susan H Bernacki
    Department of Pathology, Duke University Medical Center, Durham, NC, USA
    Clin Chem 51:2013-24. 2005
    ....
  38. ncbi request reprint Prenatal diagnosis for primary congenital glaucoma (bupthalmous)
    Charles M Strom
    Prenat Diagn 26:877. 2006