Asuragen Scientific Publications

Asuragen has researched and published extensively in genetics, oncology, molecular diagnostics, and technology advancements for over 15 years. These publications, posters, and white papers cover various disease areas and their related genes including fragile X (FMR1), spinal muscular atrophy (SMN1/SMN2), cystic fibrosis (CFTR), and chronic myeloid leukemia (BCR-ABL1). They show the power of detecting and interpreting molecular alterations using AmplideX and QuantideX technologies as well as the value of Molecular Quality Controls and companion diagnostics collaborations to deliver new insights and advance precision medicine. Simply search by term, filter by category, or use both to find your area of interest.

We’re driven to provide people with better answers, so we ensure our products are supported by reliable data and backed by rigorous science. Dive into these publications to learn more.

Proof-of-Concept for Single-Platform Trio Carrier Screening of FMR1, SMN1/2, and CFTR Variants using PCR and Capillary Electrophoresis with Consolidated Workflows
Walairat Laosinchai-Wolf, Ph.D. - Presented at AMP
Two-site Evaluation of a Rapid and Simple CFTR PCR/CE Assay and Software Targeting Mutations Across Diverse Ethnic Groups
Stela Filipovic-Sadic - Presented at AMP
A Rare Single Nucleotide Variant Causing a False-Negative HTT CAG Repeat Expansion Result in the Evaluation of a Patient for Huntington Disease
Collaboration with University of Pennsylvania - Presented at AMP
A Single-Assay Diagnostic Workflow for Genotyping and Phasing SNPs with Repeat Expansions for Allele-Selective Therapies in Huntington Disease
Sarah Statt, Ph.D. - Presented at AMP
AmplideX PCR/CE CFTR Prototype Assay has Broad Coverage for Diverse Populations
Shoba Gokul - Presented at ESHG
Analytical Validation of a Multiplex PCR/CE Assay for Simultaneous Determination of SMN1/SMN2 Exon 7 Copy Number and Variant Status
John Milligan, Ph.D. - Presented at ESHG
Analytical and Clinical Validation of a PCR/CE Assay System for the Diagnosis of Fragile X Syndrome and Carrier Screening
Connor Parker - Presented at ACMG
A Multiplex PCR/CE CFTR Prototype Assay and Software Targets Mutations Including Poly-T/TG and Addresses >90% Allele Frequency in US Population
Brad Hall, Ph.D. - Presented at ACMG
Multisite Evaluation of a Single-tube SMN1/2 PCR/CE Assay System that Assesses Copy Number and Expanded Content for Spinal Muscular Atrophy
Huiping Zhu, Ph.D. - Presented at ACMG
Verification of a Single-tube PCR/CE Kit for SMN1/2 Copy Number and Variants Associated with Gene Duplication and SMA Disease Severity
Kevin Kelnar - Presented at ACMG
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