A. Buller

发表

CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype

Aubrey Milunsky, Arlene Buller, Franklin Quan, 2006, Genetics in Medicine.

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

Weimin Sun, C. Strom, Ben Anderson, 2002, Genetics in Medicine.

Genetic changes in solid tumors.

M. Barcus, C. Garrett, A. Ferreira-Gonzalez, 2000, Seminars in surgical oncology.

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

Weimin Sun, C. Strom, Mei Peng, 2004, Genetics in Medicine.

Technical validation of a TM Biosciences Luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel.

Weimin Sun, C. Strom, M. Mcginniss, 2006, The Journal of molecular diagnostics : JMD.

Development and Characterization of Reference Materials for MTHFR , SERPINA 1 , RET , BRCA 1 , and BRCA 2 Genetic Testing

W. Grody, S. Bale, Soma Das, 2010 .

Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.

W. Grody, S. Bale, Soma Das, 2009, The Journal of molecular diagnostics : JMD.

Development of genomic reference materials for Huntington disease genetic testing

C. Richards, G. Feldman, E. Berry-Kravis, 2007, Genetics in Medicine.

Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening

Weimin Sun, C. Strom, F. Hantash, 2006, Human Genetics.

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

C. Strom, F. Hantash, J. Redman, 2004, Genetics in Medicine.

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

Weimin Sun, C. Strom, M. Mcginniss, 2004, Genetics in Medicine.

Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes.

M. Tekin, A. Pandya, C. Jackson-Cook, 2000 .

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

Weimin Sun, C. Strom, F. Hantash, 2005, Human Genetics.

Higher detection rate of JAK2 mutation using plasma.

H. Kantarjian, Wanlong Ma, Xi Zhang, 2008, Blood.

Validation of a Multiplex Methylation-sensitive PCR Assay for the Diagnosis of Prader-Willi and Angelman’s Syndromes

M. Tekin, A. Pandya, C. Jackson-Cook, 2000, Molecular Diagnosis.

Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation.

M. Tekin, A. Pandya, C. Jackson-Cook, 2000, American journal of medical genetics.

Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.

L. Edelmann, R. Kornreich, J. Dixon, 2009, The Journal of molecular diagnostics : JMD.

Development of genomic reference materials for cystic fibrosis genetic testing.

S. Barker, M. Caggana, V. Pratt, 2009, The Journal of molecular diagnostics : JMD.

Characterization of 107 Genomic DNA Reference Materials for CYP 2 D 6 , CYP 2 C 19 , CYP 2 C 9 , VKORC 1 , and UGT 1 A 1 A GeT-RM and Association for Molecular Pathology Collaborative Project

E. Lyon, D. H. Farkas, A. Wu, 2010 .

Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent

Arlene Buller, Franklin Quan, Weimin Sun, 2005, Genetics in Medicine.

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

Weimin Sun, C. Strom, Mei Peng, 2007, Genetics in Medicine.

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

Weimin Sun, C. Strom, M. Mikula, 2008, Genetics in Medicine.

Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.

Barbara Zehnbauer, Lisa Kalman, Elaine Lyon, 2010, The Journal of molecular diagnostics : JMD.

Biosynthesis of mucins ( MUC 2-6 ) along the longitudinal axis of the human gastrointestinal tract

Jan, Bol, A. Buller, 2002 .

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

Weimin Sun, C. Strom, Mei Peng, 2003, Genetics in Medicine.

mutation using plasma JAK2 Higher detection rate of

H. Kantarjian, Wanlong Ma, Xi Zhang, 2011 .

Detection of 677CT/1298AC “double variant” chromosomes: Implications for interpretation of MTHFR genotyping results

Weimin Sun, C. Strom, M. Mcginniss, 2005, Genetics in Medicine.

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

Weimin Sun, C. Strom, F. Hantash, 2006, The Journal of molecular diagnostics : JMD.

Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening

Weimin Sun, C. Strom, F. Hantash, 2006, Human Genetics.

The challenge of using SNPs in the understanding and treatment of disease.

Douglas R Storts, R. S. Schifreen, Richard S Schifreen, 2002, BioTechniques.