Publications by authors named "Joy B Redman"

16Publications

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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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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May 2009

Molecular testing: improving patient care through partnering with laboratory genetic counselors.

Genet Med 2008 May;10(5):337-42

Cleveland Clinic Genomic Medicine Institute, Cleveland, Ohio 44195, USA.

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May 2008

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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September 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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December 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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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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October 2004

Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?

Acta Ophthalmol Scand 2002 Apr;80(2):196-201

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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April 2002