Franklin Quan

发表

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.

Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.

B. Popovich, M. Grompe, P. Jakobs, 1994, Human molecular genetics.

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

Weimin Sun, C. Strom, Mei Peng, 2011, Genetics in Medicine.

Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.

B. Popovich, S. Toth-Fejel, J. Wolford, 1997, American journal of human genetics.

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

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

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

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

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

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

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.

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.

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

Weimin Sun, C. Strom, Mei Peng, 2011, 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.

Duchenne muscular dystrophy

William M. Fowler, Craig M. McDonald, Richard T. Abresch, 1995 .

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.

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.

A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1.

B. Popovich, F. Quan, J. Janas, 1995, Human molecular genetics.

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.

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening

Weimin Sun, C. Strom, F. Hantash, 2010, Genetics in Medicine.