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Mutation detection

Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients

Arndt Rolfs, Anne-Katrin Giese, [ ... ], Hermann Mascher

Role of Mutation in Pseudomonas aeruginosa Biofilm Development

Tim C. R. Conibear, Samuel L. Collins, Jeremy S. Webb

Rapid KRAS, EGFR, BRAF and PIK3CA Mutation Analysis of Fine Needle Aspirates from Non-Small-Cell Lung Cancer Using Allele-Specific qPCR

Ronald van Eijk, Jappe Licht, [ ... ], Tom van Wezel

Validation of Next Generation Sequencing Technologies in Comparison to Current Diagnostic Gold Standards for BRAF, EGFR and KRAS Mutational Analysis

Clare M. McCourt, Darragh G. McArt, [ ... ], Manuel Salto-Tellez

Analytical validation of a next generation sequencing liquid biopsy assay for high sensitivity broad molecular profiling

Vincent Plagnol, Samuel Woodhouse, [ ... ], Tim Forshew

Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design

Almudena Aguilera-Diaz, Iria Vazquez, [ ... ], María José Calasanz

High-Throughput Genome Editing and Phenotyping Facilitated by High Resolution Melting Curve Analysis

Holly R. Thomas, Stefanie M. Percival, Bradley K. Yoder, John M. Parant

Nanopore-Based Target Sequence Detection

Trevor J. Morin, Tyler Shropshire, [ ... ], William B. Dunbar

Development of a highly sensitive liquid biopsy platform to detect clinically-relevant cancer mutations at low allele fractions in cell-free DNA

Davina Gale, Andrew R. J. Lawson, [ ... ], Nitzan Rosenfeld

Comparative Genomic and Transcriptomic Analyses of LNCaP and C4-2B Prostate Cancer Cell Lines

Lien Spans, Christine Helsen, [ ... ], Frank Claessens

High Accuracy Mutation Detection in Leukemia on a Selected Panel of Cancer Genes

Zeynep Kalender Atak, Kim De Keersmaecker, [ ... ], Stein Aerts

Comparison of Testing Methods for the Detection of BRAF V600E Mutations in Malignant Melanoma: Pre-Approval Validation Study of the Companion Diagnostic Test for Vemurafenib

Fernando Lopez-Rios, Barbara Angulo, [ ... ], David Gonzalez de Castro

A Novel SCN9A Mutation Responsible for Primary Erythromelalgia and Is Resistant to the Treatment of Sodium Channel Blockers

Min-Tzu Wu, Po-Yuan Huang, [ ... ], Ming-Jen Lee

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