Publications by authors named "Charles M Strom"

61Publications

Maternal chromosome Xp deletion identified by prenatal cell-free DNA screening.

Prenat Diagn 2017 09 25;37(9):935-937. Epub 2017 Jul 25.

Division of Molecular Genetics, Quest Diagnostics, San Juan Capistrano, CA, USA.

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http://dx.doi.org/10.1002/pd.5103DOI Listing
September 2017

A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.

Value Health 2017 Apr 23;20(4):547-555. Epub 2017 Feb 23.

Quest Diagnostics, San Juan Capistrano, CA, USA.

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http://dx.doi.org/10.1016/j.jval.2017.01.006DOI Listing
April 2017

Improving the Accuracy of Prenatal Screening with DNA Copy-Number Analysis.

N Engl J Med 2017 01;376(2):188-189

Quest Diagnostics Nichols Institute, San Juan Capistrano, CA

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http://dx.doi.org/10.1056/NEJMc1604205DOI Listing
January 2017

Frequency and Complexity of De Novo Structural Mutation in Autism.

Am J Hum Genet 2016 Apr 24;98(4):667-79. Epub 2016 Mar 24.

Beyster Center for Genomics of Psychiatric Diseases, University of California, San Diego, La Jolla, CA 92093, USA; Department of Psychiatry, University of California, San Diego, La Jolla, CA 92093, USA; Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833290PMC
April 2016

Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing.

Am J Obstet Gynecol 2014 Nov 8;211(5):527.e1-527.e17. Epub 2014 Aug 8.

Division of Human Genetics, Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, CT. Electronic address:

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http://dx.doi.org/10.1016/j.ajog.2014.08.006DOI Listing
November 2014

Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases.

Genet Med 2015 Mar 7;17(3):234-6. Epub 2014 Aug 7.

Cytogenetics Laboratory, Quest Diagnostics Nichols Institute, San Juan Capistrano, California, USA.

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http://dx.doi.org/10.1038/gim.2014.92DOI Listing
March 2015

Changing trends in laboratory testing in the United States: a personal, historical perspective.

Authors:
Charles M Strom

Clin Lab Med 2012 Dec;32(4):651-64

Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92675-2042, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S02722712120008
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http://dx.doi.org/10.1016/j.cll.2012.07.003DOI Listing
December 2012

Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory.

Genet Med 2012 Jan 7;14(1):95-100. Epub 2011 Oct 7.

Genetic Testing Center, Nichols Institute Quest Diagnostics, San Juan Capistrano, California, USA.

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http://www.nature.com/articles/gim0b013e3182329870
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http://dx.doi.org/10.1038/gim.0b013e3182329870DOI Listing
January 2012

The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data.

Genet Med 2011 Dec;13(12):1042-4

Nichols Institute Quest Diagnostics, San Juan Capistrano, California 92675-2042, USA.

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http://dx.doi.org/10.1097/GIM.0b013e318228efb2DOI Listing
December 2011

Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis.

Genet Med 2011 Feb;13(2):166-72

Nichols Institute, Quest Diagnostics, Genetic Testing Center, 33608 Ortega Highway, San Juan Capistrano, San Juan Capistrano, California 92675-2042, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181fa24c4DOI Listing
February 2011

Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion.

J Mol Diagn 2009 May 26;11(3):253-6. Epub 2009 Mar 26.

Department of Molecular Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, California 92690, USA.

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http://dx.doi.org/10.2353/jmoldx.2009.080117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2671343PMC
May 2009

Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations.

Genet Med 2008 May;10(5):349-52

Quest Diagnostics Nichols Institute, San Juan Capistrano, California 92690, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181723cc8DOI Listing
May 2008

Clinical array comparative genomic hybridization: a new paradigm.

Expert Opin Med Diagn 2008 Apr;2(4):449-59

Senior Scientist Quest Diagnostics Nichols Institute, Department of Cytogenetics, 33608 Ortega Highway San Juan Capistrano, CA 92675, USA +1 949 728 4805 ; +1 949 728 4979 ;

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http://dx.doi.org/10.1517/17530059.2.4.449DOI Listing
April 2008

Academic and commercial genetic testing laboratories: complementary if not complimentary.

Authors:
Charles M Strom

Per Med 2007 Nov;4(4):489-495

Quest Diagnostics Nichols Institute, Genetic Testing Center, 33608 Ortega Highway, San Juan Capistrano, CA 92673, USA.

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http://dx.doi.org/10.2217/17410541.4.4.489DOI Listing
November 2007

Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene.

J Mol Diagn 2007 Sep 9;9(4):556-60. Epub 2007 Aug 9.

Quest Diagnostics Nichols Institute, Molecular Genetics, 33608 Ortega Hwy, San Juan Capistrano, CA 92690, USA.

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http://dx.doi.org/10.2353/jmoldx.2007.060141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1975096PMC
September 2007

Development of a web-based query tool for quality assurance of clinical molecular genetic test results.

J Mol Diagn 2007 Feb;9(1):95-8

Molecular Genetics Laboratory, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690-6130, USA.

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http://dx.doi.org/10.2353/jmoldx.2007.060107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1867424PMC
February 2007

Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory.

Genet Med 2007 Jan;9(1):46-51

Nichols Institute, Quest Diagnostics, 33608 Ortega Highway, San Juan Capistrano, California 92690, USA.

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http://dx.doi.org/10.1097/gim.0b013e31802d833cDOI Listing
January 2007

Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population.

J Mol Diagn 2006 May;8(2):282-7

Department of Molecular Genetics, Quest Diagnostics Incorporated, Nichols Institute, San Juan Capistrano, California 92690, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1867596PMC
http://dx.doi.org/10.2353/jmoldx.2006.050026DOI Listing
May 2006

A large deletion in the CFTR gene in CBAVD.

Genet Med 2006 Feb;8(2):93-5

Department of Molecualr Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92690, USA.

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http://dx.doi.org/10.1097/01.gim.0000200945.54234.d7DOI Listing
February 2006

Multiple property tolerance analysis for the evaluation of missense mutations.

Evol Bioinform Online 2007 Feb 24;2:321-32. Epub 2007 Feb 24.

Consortium for Bioinformatics and Computational Biology, and Department of Chemistry, University of Minnesota, P.O.Box 14800, Minneapolis, MN 55414, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674666PMC
February 2007

Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.

Hum Genet 2005 Dec 28;118(3-4):331-8. Epub 2005 Sep 28.

Molecular Genetics Laboratory, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA, 92690-6130, USA.

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http://dx.doi.org/10.1007/s00439-005-0065-1DOI Listing
December 2005

Mutation detection, interpretation, and applications in the clinical laboratory setting.

Authors:
Charles M Strom

Mutat Res 2005 Jun;573(1-2):160-7

Genetic Testing Center, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690, USA.

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http://dx.doi.org/10.1016/j.mrfmmm.2004.09.017DOI Listing
June 2005

High-throughput gene sequencing assay development for hereditary nonpolyposis colon cancer.

Clin Colorectal Cancer 2004 Nov;4(4):275-9

Nichols Institute, Quest Diagnostics, Inc., San Juan Capistrano, CA 92690-6130, USA.

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http://dx.doi.org/10.3816/ccc.2004.n.027DOI Listing
November 2004

Population-based carrier screening and prenatal diagnosis.

Authors:
Charles M Strom

MLO Med Lab Obs 2004 Aug;36(8):12-7; quiz 20-1

Genetic Testing Center, Quest Diagnostics, Nichols Institute in San Juan Capistrano, CA, USA.

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August 2004

Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory.

Genet Med 2004 May-Jun;6(3):145-52

Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690, USA.

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http://dx.doi.org/10.1097/01.gim.0000127267.57526.d1DOI Listing
February 2005

Cystic fibrosis screening: lessons learned from the first 320,000 patients.

Genet Med 2004 May-Jun;6(3):136-40

Medical Director, Genetics, Nichols Institute, Quest Diagnostics, 33608 Ortega Highway, San Juan Capistrano, CA 92690, USA.

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http://dx.doi.org/10.1097/01.gim.0000127268.65149.69DOI Listing
February 2005

Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T.

Genet Med 2004 Mar-Apr;6(2):108-9

Molecular Genetics Department, Nichols Institute, Quest Diagnostics, San Juan Capistrano, California 92690, USA.

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http://dx.doi.org/10.1097/01.gim.0000117332.18002.ffDOI Listing
October 2004

Current challenges in cystic fibrosis screening.

Authors:
Charles M Strom

Arch Pathol Lab Med 2004 Mar;128(3):366; author reply 366

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http://dx.doi.org/10.1043/1543-2165(2004)128<366b:LTTE>2.0.CO;2DOI Listing
March 2004

From peapods to laboratory medicine: molecular diagnostics of inheritable diseases.

MLO Med Lab Obs 2003 Jul;35(7):30-2, 36, 38 passim

Quest Diagnostics Nichols Institute, Teterboro, NJ, USA.

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July 2003

Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test.

Genet Med 2003 Jan-Feb;5(1):9-14

Molecular Genetics Laboratory, Quest Diagnostics Nichols Institute, San Juan Capistrano, California 92690, USA.

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http://dx.doi.org/10.1097/00125817-200301000-00002DOI Listing
August 2003

Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.

Genet Med 2002 Jul-Aug;4(4):289-96

Molecular Genetics Laboratory, Quest Diagnostics Nichols Institute, San Juan Capistrano, California.

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http://dx.doi.org/10.1097/00125817-200207000-00007DOI Listing
November 2002