Ben Anderson

发表

1000 sample comparison of MLPA and RT-PCR for carrier detection and diagnostic testing for Spinal Muscular Atrophy Type 1

Weimin Sun, C. Strom, Ben Anderson, 2013 .

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.

Maternal chromosome Xp deletion identified by prenatal cell‐free DNA screening

C. Strom, R. Owen, Ben Anderson, 2017, Prenatal diagnosis.

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.

Prenatal cell‐free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratory

C. Rowland, R. Owen, Ben Anderson, 2019, Molecular genetics & genomic medicine.

Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS)

J. Catanese, Weimin Sun, C. Strom, 2017, PloS one.

FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States

Weimin Sun, C. Strom, F. Hantash, 2011, Genetics in Medicine.

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.

Development and validation of a high throughput SARS-CoV-2 whole genome sequencing workflow in a clinical laboratory

Y. Liu, A. Gerasimova, R. Kagan, 2022, Scientific Reports.

Development and Validation of a High-Throughput Next-Generation Sequencing Workflow for SARS-CoV-2 Whole Genome Sequencing: Results from Over 65,000 Clinical Cases

Y. Liu, A. Gerasimova, R. Kagan, 2021 .

Direct visualization of cystic fibrosis transmembrane regulator mutations in the clinical laboratory setting.

David D. Clark, Weimin Sun, Charles M Strom, 2004, Clinical chemistry.

A large deletion in the CFTR gene in CBAVD

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

Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS)

J. Catanese, Weimin Sun, C. Strom, 2017, PloS one.