Publications by authors named "Joy Redman"

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Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
Elinor Langfelder-Schwind, Barbara Karczeski, Michelle N Strecker, Joy Redman, Elaine A Sugarman

J Genet Couns· February 2014

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The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data.
Charles M Strom, Joy B Redman, Mei Peng

Genet Med· December 2011

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Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis.
Charles M Strom, Beryl Crossley, Arlene Buller-Buerkle, Michael Jarvis, Franklin Quan, Joy B Redman

Genet Med· February 2011

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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, Craig Morgan, Rajesh Sharma, Yuanyin Li, Raynah M Lobo, Joy B Redman

Pediatr Res· February 2010

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Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion.
Feras M Hantash, Arlene Rebuyon, Mei Peng, Joy B Redman, Weimin Sun

J Mol Diagn· May 2009

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Identification of cystic fibrosis variants by polymerase chain reaction/oligonucleotide ligation assay.
Karen M Schwartz, Lisa L Pike-Buchanan, Kasinathan Muralidharan, Joy B Redman, Jean Amos Wilson

J Mol Diagn· May 2009

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Molecular testing: improving patient care through partnering with laboratory genetic counselors.
Cheryl Scacheri, Joy B Redman, Lisa Pike-Buchanan, Kelle Steenblock

Genet Med· May 2008

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Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene.
Feras M Hantash, Joy B Redman, Dana Goos, Anja Kammesheidt, Matthew J McGinniss

J Mol Diagn· September 2007

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Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory.
Charles M Strom, Beryl Crossley, Joy B Redman, Arlene Buller, Franklin Quan

Genet Med· January 2007

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Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent.
Charles M Strom, Richard A Janeczko, Ben Anderson, Joy Redman, Franklin Quan

Genet Med· June 2006

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CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype.
Weimin Sun, Ben Anderson, Joy Redman, Aubrey Milunsky, Arlene Buller

Genet Med· June 2006

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Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.
Feras M Hantash, Joy B Redman, Kelsey Starn, Ben Anderson, Arlene Buller

Hum Genet· March 2006

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Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.
Matthew J McGinniss, Christina Chen, Joy B Redman, Arlene Buller, Franklin Quan

Hum Genet· December 2005

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Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency).
Dianne Keen-Kim, Joy B Redman, Reno U Alanes, Michele M Eachus, Robert C Wilson

J Mol Diagn· May 2005

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Detection of 677CT/1298AC "double variant" chromosomes: implications for interpretation of MTHFR genotyping results.
Nicholas M Brown, Victoria M Pratt, Arlene Buller, Lisa Pike-Buchanan, Joy B Redman

Genet Med· April 2005

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Cystic fibrosis screening: lessons learned from the first 320,000 patients.
Charles M Strom, Beryl Crossley, Joy B Redman, Arlene Buller, Franklin Quan

Genet Med· February 2005

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Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory.
Charles M Strom, Beryl Crossley, Joy B Redman, Franklin Quan, Arlene Buller

Genet Med· February 2005

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Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
Elinor Langfelder-Schwind, Edward Kloza, Elaine Sugarman, Barbara Pettersen, Trisha Brown, Joy Redman

J Genet Couns· February 2005

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Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T.
Arlene Buller, Susan Olson, Joy B Redman, Feras Hantash, Rebecca Chen

Genet Med· October 2004

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Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test.
Charles M Strom, Donghui Huang, Christina Chen, Arlene Buller, Mei Peng, Joy Redman

Genet Med· August 2003

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A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma.
Barbara Nemesure, Xiaodong Jiao, Qimei He, M Cristina Leske, Suh-Yuh Wu, Joy Redman

Hum Genet· May 2003

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Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.
Charles M Strom, Donghui Huang, Arlene Buller, Joy Redman, Beryl Crossley

Genet Med· November 2002

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Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?
Ekaterini T Tsilou, Benjamin I Rubin, Rafael C Caruso, George F Reed, Anita Pikus, Joy B Redman

Acta Ophthalmol Scand· April 2002

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