Publications by authors named "Arlene Buller"

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Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.
Victoria M Pratt, Barbara Zehnbauer, Jean Amos Wilson, Ruth Baak, Nikolina Babic, Arlene Buller

J Mol Diagn· November 2010

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Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.
Shannon D Barker, Sherri Bale, Jessica Booker, Arlene Buller, Soma Das

J Mol Diagn· November 2009

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Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.
Lisa Kalman, Jean Amos Wilson, Arlene Buller, John Dixon, Lisa Edelmann

J Mol Diagn· November 2009

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Development of genomic reference materials for cystic fibrosis genetic testing.
Victoria M Pratt, Michele Caggana, Christina Bridges, Arlene M Buller, Lisa DiAntonio

J Mol Diagn· May 2009

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Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations.
Mario Mikula, Arlene Buller, Weimin Sun, Charles M Strom

Genet Med· May 2008

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Higher detection rate of JAK2 mutation using plasma.
Wanlong Ma, Hagop Kantarjian, Xi Zhang, Weimin Sun, Arlene M Buller

Blood· April 2008

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Development of genomic reference materials for Huntington disease genetic testing.
Lisa Kalman, Monique A Johnson, Jeanne Beck, Elizabeth Berry-Kravis, Arlene Buller

Genet Med· October 2007

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Development of a web-based query tool for quality assurance of clinical molecular genetic test results.
Matthew J McGinniss, Rebecca Chen, Victoria M Pratt, Arlene Buller, Franklin Quan

J Mol Diagn· February 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 TM Biosciences Luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel.
Charles M Strom, Richard Janeszco, Franklin Quan, Sheng-biao Wang, Arlene Buller

J Mol Diagn· July 2006

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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, Arlene Buller

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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Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population.
Feras M Hantash, Susan C Olson, Ben Anderson, Arlene Buller, Rebecca Chen

J Mol Diagn· May 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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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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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

Genet Med· August 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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The challenge of using SNPs in the understanding and treatment of disease.
Richard S Schifreen, Douglas R Storts, Arlene M Buller

Biotechniques· June 2002

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