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The Journal of Molecular Diagnostics
- Performance Evaluation of a Custom Myeloid Assay on the Genexus Integrated Sequencer from a Wide Spectrum of Clinical Variants.
- Epigenetic CD4+ T-Cell Quantification from Dried Blood Spots Using a qPCR-Based Assay
- Segmental Copy Number Variant Detection Using an Amplicon-based NGS Panel for Integrated Glioma Classification
- Epigenetic CD4+ T-Cell Quantification from Dried Blood Spots Using a Real-Time Quantitative PCR–Based Assay
- Segmental Copy Number Variant Detection Using an Amplicon-Based Next-Generation Sequencing Panel for Integrated Glioma Classification
- Table of Contents
- Editorial Board
- Endonuclease-Assisted Selective Exponential Amplification (ESEA) for Ultra-Sensitive Enrichment and Detection of Low-abundance Mutant Alleles in Lung Cancer
- Clinical validation of the Roche cobas and cobas 4800 HPV tests on self-collected vaginal dry swabs vs practitioner-collected cervical specimens using the VALHUDES Protocol
- Long-Read Nanopore Sequencing Enhances BRCA1/2 Variant Detection Compared to Ion Torrent Analysis
- Validation of NTRK Fusion Detection Using an Ultrarapid, Fully Automated Cartridge-based PCR Assay
- Endonuclease-Assisted Selective Exponential Amplification (ESEA) for Ultra-Sensitive Enrichment and Detection of Low-abundance Mutant Alleles in Lung Cancer
- Clinical validation of the Roche cobas and cobas 4800 HPV tests on self-collected vaginal dry swabs vs practitioner-collected cervical specimens using the VALHUDES Protocol
- Validation of NTRK Fusion Detection Using an Ultrarapid, Fully Automated Cartridge-based PCR Assay
- Long-Read Nanopore Sequencing Enhances BRCA1/2 Variant Detection Compared to Ion Torrent Analysis
- Author Index
- Abstracts of the AMP Europe 2026 Congress
- Genetic Landscape of Acute Leukemia of Ambiguous Lineage
- Pitfalls in Detecting MET Exon 14 Skipping Variants by DNA- and RNA-Based Next-Generation Sequencing Technologies in a Large Real-World Cohort and Results of the First Multinational External Quality Assessment Schemes
- Pitfalls in Detecting MET Exon 14 Skipping Variants by DNA- and RNA-Based Next-Generation Sequencing Technologies in a Large Real-World Cohort and Results of the First Multinational External Quality Assessment Schemes
- Genetic Landscape of Acute Leukemia of Ambiguous Lineage
- Analytical Validation of Short-Read Genome Sequencing for Diagnostic Panel and Exome Testing
- Analytical Validation of Short-Read Genome Sequencing for Diagnostic Panel and Exome Testing
- Rapid On-Site Next-Generation Sequencing
- Rapid On-Site Next-Generation Sequencing
- Multicenter Clinical Comparison of the 10-Minute AMDI Fast PCR Mini Respiratory Panel and the Cepheid Xpert Xpress CoV-2/Flu/RSV plus
- Optimization of Pathologists’ Roles in Molecular Biomarker Testing in Metastatic Breast Cancer
- Editorial Board
- Table of Contents
- Authors’ Reply
- Why Non-ASCII Unicode Characters Should Not Be Used in the Human Genome Variation Society Nomenclature
- Why Non-ASCII Unicode Characters Should Not Be Used in the Human Genome Variation Society Nomenclature
- Table of Contents
- Editorial Board
- Authors’ Reply
- Digital PCR for Absolute Quantification of Adenoviruses
- Digital PCR for Absolute Quantification of Adenoviruses
- Why Non-ASCII Unicode Characters Should Not Be Used in the Human Genome Variation Society Nomenclature
- Table of Contents
- Editorial Board
- Authors’ Reply
- Comprehensive Pathologic and Genetic Investigation of Four Young Adults with a Short QT Interval and Sudden Unexpected Death
- Validation of MyHPVscore
- Utility of a Multiplex Molecular Respiratory Pathogen Panel on Clinical Management of Children in the Pediatric Emergency Department
- Validation of MyHPVscore
- Comprehensive Pathologic and Genetic Investigation of Four Young Adults with a Short QT Interval and Sudden Unexpected Death
- Utility of a Multiplex Molecular Respiratory Pathogen Panel on Clinical Management of Children in the Pediatric Emergency Department
- Utility of a Multiplex Molecular Respiratory Pathogen Panel on Clinical Management of Children in the Pediatric Emergency Department
- Comprehensive Pathologic and Genetic Investigation of Four Young Adults with a Short QT Interval and Sudden Unexpected Death
- Validation of MyHPVscore
- Single-Molecule Counting for Noninvasive Prenatal Diagnosis of Autosomal Recessive Hearing Loss in at-Risk Families
- Table of Contents
- Editorial Board
- Evaluation of Chimerism Testing by Next-Generation Sequencing Using Insertion/Deletion Markers
- Clinical-Grade Somatic Variant Interpretation Performance via a Rule-Constrained Large Language Model Framework (Oncology Logic-Informed Variant Evaluator)
- Evaluation of chimerism testing by next generation sequencing using indel markers: Analytical validation and examples of clinical utilization
- Clinical-Grade Somatic Variant Interpretation Performance via a Rule-Constrained Large Language Model Framework (OLIVE)
- Evaluation of Chimerism Testing by Next-Generation Sequencing Using Insertion/Deletion Markers
- Clinical-Grade Somatic Variant Interpretation Performance via a Rule-Constrained Large Language Model Framework (Oncology Logic-Informed Variant Evaluator)
- Assessment of Multiplex Molecular Tests for Detecting Viral Infections in Lower Respiratory Tract Specimens
- Assessment of Multiplex Molecular Tests for Detecting Viral Infections in Lower Respiratory Tract Specimens
- Assessment of Multiplex Molecular Tests for Detecting Viral Infections in Lower Respiratory Tract Specimens
- Evaluating the Impact of ClinGen Variant Curation Expert Panel Criteria Specifications on Variant Interpretation across Multiple Genes
- Evaluating the Impact of ClinGen Variant Curation Expert Panel Criteria Specifications on Variant Interpretation Across Multiple Genes
- Evaluating the Impact of ClinGen Variant Curation Expert Panel Criteria Specifications on Variant Interpretation across Multiple Genes
- Oncogenicity Variant Interpreter
- Certified Reference Materials for Standardization of Cell-Free DNA Isolation Recovery in Liquid Biopsy
- Validation of a Low-Volume (100 μL) Plasma Protocol for HIV-1 RNA Quantification Using the Hologic Aptima HIV-1 Quant Dx Assay
- Oncogenicity Variant Interpreter
- Certified Reference Materials for Standardization of Cell-Free DNA Isolation Recovery in Liquid Biopsy
- Validation of a Low-Volume (100 μL) Plasma Protocol for HIV-1 RNA Quantification Using the Hologic Aptima HIV-1 Quant Dx Assay
- Certified Reference Materials for Standardization of cfDNA Isolation Recovery in Liquid Biopsy
- Oncogenicity Variant Interpreter (OncoVI): oncogenicity guidelines implementation to support somatic variants interpretation in precision oncology
- Validation of a Low-Volume (100 μL) Plasma Protocol for HIV-1 RNA Quantification Using the Hologic Aptima HIV-1 Quant Dx Assay
- Diagnostic Utility of Single Nucleotide Polymorphism Microarray in Evaluating Pancreaticobiliary Brushing Specimens in Conjunction with Conventional Cytology
- Performance Evaluation of a PCR/Nanopore Assay for Carrier Screening for Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome
- Performance evaluation of a PCR/Nanopore assay for carrier screening for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome
- Diagnostic utility of SNPM microarray in evaluating pancreaticobiliary brushing specimens in conjunction with conventional cytology
- Performance Evaluation of a PCR/Nanopore Assay for Carrier Screening for Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome
- Diagnostic Utility of Single Nucleotide Polymorphism Microarray in Evaluating Pancreaticobiliary Brushing Specimens in Conjunction with Conventional Cytology
- Editorial Board
- Table of Contents
- REVIEWER ACKNOWLEDGMENT
- A Laboratory-Adaptive Dynamic Quality Control Framework Reduces Targeted Capture Sequencing Failure in Solid Tumors by >90%
- Diagnostic Utility of Expression Imbalance in Idylla GeneFusion Assay for Non-Small Cell Lung Cancer
- Diagnostic Utility of Expression Imbalance in the Idylla GeneFusion Assay for Non–Small-Cell Lung Cancer
- Diagnostic Utility of Expression Imbalance in the Idylla GeneFusion Assay for Non–Small-Cell Lung Cancer
- Droplet Digital PCR and Quantitative RT-PCR Comparison for Circulating miR-371a-3p in Malignant Germ Cell Tumors
- Different States of Lung Allograft Injury Assessed by Plasma Donor-Derived and Total Cell-Free DNA
- Optimization of the Extended Respiratory Panel Utilization via an Electronic Health Record Best Practice Alert
- Droplet-Digital and Reverse Transcription Quantitative PCR Comparison for Circulating miR-371a-3p in Malignant Germ Cell Tumors
- Optimization of the Extended Respiratory Panel Utilization via an Electronic Health Record Best Practice Alert
- Different States of Lung Allograft Injury Assessed by Plasma Donor-derived and Total Cell-free DNA
- Different States of Lung Allograft Injury Assessed by Plasma Donor-Derived and Total Cell-Free DNA
- Optimization of the Extended Respiratory Panel Utilization via an Electronic Health Record Best Practice Alert
- Droplet Digital PCR and Quantitative RT-PCR Comparison for Circulating miR-371a-3p in Malignant Germ Cell Tumors
- Table of Contents
- Editorial Board
- High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans
- High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans
