Journal of Molecular Diagnostics

Article	Citations
Editorial Board	113
Table of Contents	75
Title Page	61
Evaluating the Clinical Performance of a Dual-Target Stool DNA Test for Colorectal Cancer Detection	58
Validation and Performance of Quantitative BRCA1 and RAD51C Promoter Hypermethylation Testing in Breast and Ovarian Cancers	57
Considerations for Severe Acute Respiratory Syndrome Coronavirus 2 Genomic Surveillance	48
Reviewer Acknowledgment	46
Correction	40
Editorial Board	39
Next-CLL, a New Next-Generation Sequencing–Based Method for Assessment of IGHV Gene Mutational Status in Chronic Lymphoid Leukemia	38
Table of Contents	37
Feasibility, Ease-of-Use, and Operational Characteristics of World Health Organization–Recommended Moderate-Complexity Automated Nucleic Acid Amplification Tests for the Detection of Tuberculosis and	37
Abstracts	35
Abstracts of the AMP Europe 2023 Congress	35
Disclosure Statement	35
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors	31
Editorial Board	30
Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders	29
Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Genome Sequencing from Post-Mortem Formalin-Fixed, Paraffin-Embedded Lung Tissues	29
A Curriculum for Genomic Education of Molecular Genetic Pathology Fellows	29
Assessing the Risk Stratification of Breast Cancer Polygenic Risk Scores in a Brazilian Cohort	27
Advances in Host Depletion and Pathogen Enrichment Methods for Rapid Sequencing–Based Diagnosis of Bloodstream Infection	27
miRNAs as Molecular Biomarkers for Prostate Cancer	26
Discordance between Immunohistochemistry and Erb-B2 Receptor Tyrosine Kinase 2 mRNA to Determine Human Epidermal Growth Factor Receptor 2 Low Status for Breast Cancer	26
Careers Can Turn on Tiny Events—Be Prepared for Them	25

Platelets, chromogranin A and C-reactive protein predict therapy failure of metastatic hormone-sensitive prostate cancer while miR-375 outperforms PSA in stratifying castration-resistant prostate canc	24
Editorial Board	24
The Molecular Genetic Pathology Fellowship Curriculum	23
Table of Contents	23
Editorial Board	23
Editorial Board	23
Authors' Reply	22
Editorial Board	22
Editorial Board	21
Editorial Board	20
Molecular and Cytogenetic Features of NTRK Fusions Enriched in BRAF and RET Double-Negative Papillary Thyroid Cancer	19
Editorial Board	19
Overcoming the Pitfalls of Next-Generation Sequencing–Based Molecular Diagnosis of Shwachman-Diamond Syndrome	19
A Retrospective Statistical Validation Approach for Panel of Normal–Based Single-Nucleotide Variant Detection in Tumor Sequencing	19
Contrived Materials and a Data Set for the Evaluation of Liquid Biopsy Tests	18
The Validation of Digital PCR–Based Minimal Residual Disease Detection for the Common Mutations in IDH1 and IDH2 Genes in Patients with Acute Myeloid Leukemia	18
Variant Classification Discordance	18
Table of Contents	18
Table of Contents	18
Editorial Board	18
Editorial Board	17
Instructions to Authors	17
Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta	17
Optimization of Sources of Circulating Cell-Free DNA Variability for Downstream Molecular Analysis	17
Correction	16
Panel Comparative Analysis Tool	16
Editorial Board	16
Optimization of Tumor Dissection Procedures Leads to Measurable Improvement in the Quality of Molecular Testing	16
CRISPR-Based Assays for Point-of-Need Detection and Subtyping of Influenza	16
Development of Multiplex Drop-Off Digital PCR Assays for Hotspot Mutation Detection of KRAS, NRAS, BRAF, and PIK3CA in the Plasma of Colorectal Cancer Patients	16
RNA-Seq Reveals Differences in Expressed Tumor Mutation Burden in Colorectal and Endometrial Cancers with and without Defective DNA-Mismatch Repair	16
Table of Contents	16
Mutational Signatures in Cancer	16
Realizing the Dream of Precision Oncology	15
Characterizing the Impact of Primer-Template Mismatches on Recombinase Polymerase Amplification	15
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors	15
Clinical Implementation of MetaFusion for Accurate Cancer-Driving Fusion Detection from RNA Sequencing	15
High Prevalence of Chromosomal Rearrangements and LINE Retrotranspositions Detected in Formalin-Fixed, Paraffin-Embedded Colorectal Cancer Tissue	15
The Comparison of Two Whole-Genome Amplification Approaches for Noninvasive Preimplantation Genetic Testing (ni-PGT) and the Application Scenario of ni-PGT during the Fresh Cycle	15
Table of Contents	15
Between Laboratory Reproducibility of DNA Extraction from Human Blood and Fresh Frozen Tissue	15
Digital Droplet PCR Is a Reliable Tool to Improve Minimal Residual Disease Stratification in Adult Philadelphia-Negative Acute Lymphoblastic Leukemia	14
Assessment of Droplet Digital PCR for the Detection and Absolute Quantification of Toxoplasma gondii	14
High-Throughput Variant Detection Using a Color-Mixing Strategy	14
Leveraging Off-Target Reads in Panel Sequencing for Homologous Recombination Repair Deficiency Screening in Tumor	14
A Novel Integrated Approach for Cytogenomic Evaluation of Plasma Cell Neoplasms	14
Impact of Cell-Debris and Room-Temperature Storage on Urine Circulating Tumor DNA from Hepatocellular Carcinoma	14
Quantification of Measurable Residual Disease Detection by Next-Generation Sequencing–Based Clonality Testing in B-Cell and Plasma Cell Neoplasms	14
Defining an Optimized Workflow for Enriching and Analyzing Residual Tumor Populations Using Intracellular Markers	13
Concordance Analysis of ALK Gene Fusion Detection Methods in Patients with Non–Small-Cell Lung Cancer from Chile, Brazil, and Peru	13

Measurable Residual Disease Monitoring of SPAG6, ST18, PRAME, and XAGE1A Expression in Peripheral Blood May Detect Imminent Relapse in Childhood Acute Myeloid Leukemia	13
A Nonadaptive Combinatorial Group Testing Strategy to Facilitate Health Care Worker Screening during the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Outbreak	13
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY	13
Identification of Synonymous Pathogenic Variants in Monogenic Disorders by Integrating Exome with Transcriptome Sequencing	13
Multiplex PCR Assays for Identifying all Major Severe Acute Respiratory Syndrome Coronavirus 2 Variants	13
A Systematic Method to Detect Next-Generation Sequencing–Based Microsatellite Instability in Plasma Cell-Free DNA	13
Innovative Tumor Tissue Dissection Tool for Molecular Oncology Diagnostics	13
Neurotrophin Receptor Kinase	13
Molecular Pathology Education	13
Surveillance of Disease Progression in Metastatic Breast Cancer by Molecular Counting of Circulating Tumor DNA Using Plasma-SeqSensei Breast Cancer in Vitro Diagnostics Assay	12
A Comparative Study of Real-Time RT-PCR–Based SARS-CoV-2 Detection Methods and Its Application to Human-Derived and Surface Swabbed Material	12
MOL-PCR and xMAP Technology	12
Transcriptome Analysis Identifies GATA3-AS1 as a Long Noncoding RNA Associated with Resistance to Neoadjuvant Chemotherapy in Locally Advanced Breast Cancer Patients	12
Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis	12
Detection of Cervical Lesions and Cancer in Air-Dried Cytologic Smears by Combined Analysis of mRNA and miRNA Expression Levels	12
Salivary High-Risk Human Papillomavirus (HPV) DNA as a Biomarker for HPV-Driven Head and Neck Cancers	12
Practical Considerations for Using RNA Sequencing in Management of B-Lymphoblastic Leukemia	12
Comparison of Illumina and Oxford Nanopore Sequencing Technologies for Pathogen Detection from Clinical Matrices Using Molecular Inversion Probes	12
Diagnostic Utility of Gene Fusion Panel to Detect Gene Fusions in Fresh and Formalin-Fixed, Paraffin-Embedded Cancer Specimens	12
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia	12
Ultrasensitive Quantitation of Genomic Chimerism by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing of Copy Number Deletion Polymorphisms	11
Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing	11
Table of Contents	11
Accurate Detection and Quantification of FLT3 Internal Tandem Duplications in Clinical Hybrid Capture Next-Generation Sequencing Data	11
Clinical Whole Genome Sequencing for Clarithromycin and Amikacin Resistance Prediction and Subspecies Identification of Mycobacterium abscessus	11
Rapid, Reliable, and Interpretable Copy Number Variant Curation Visualizations for Diagnostic Settings with SeeNV	11
Multiple Immunoglobulin κ Gene Rearrangements within a Single Clone Unraveled by Next-Generation Sequencing–Based Clonality Assessment	10
Editorial Board	10
Modifying a Diagnostic SARS-CoV-2 Spike PCR to Turn a Del69/70 Dropout into a Discriminatory On-Target Assay	10
NTRK Gene Fusion Detection in a Pan-Cancer Setting Using the Idylla GeneFusion Assay	10
The Lund Molecular Taxonomy Applied to Non–Muscle-Invasive Urothelial Carcinoma	10
Minimizing Sample Failure Rates for Challenging Clinical Tumor Samples	10
Editorial Board	10
Editorial Board	10
A Novel and Comprehensive Whole-Genome Sequencing–Based Preimplantation Genetic Testing Approach for Different Genetic Conditions	10
Formalin-Fixed, Paraffin-Embedded–Targeted Locus Capture	10
Editorial Board	10
DMG26	10
Disclosure Statement	10
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk	9
Disclosure Statement	9
Next-Generation Sequencing–Based Antigen-Receptor Gene Clonality Assays	9
Table of Contents	9
4qA D4Z4 Methylation Test as a Valuable Complement for Differential Diagnosis in Patients with a Facioscapulohumeral Muscular Dystrophy–Like Phenotype	9
Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms	9
The Isothermal Amplification AmpFire Assay for Human Papillomavirus (HPV) Detection and Genotyping in Formalin-Fixed, Paraffin-Embedded Oropharyngeal Cancer Samples	9
Editorial Board	9
Table of Contents	9
Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics–Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an	9
A Network-Based Framework to Discover Treatment-Response–Predicting Biomarkers for Complex Diseases	9
Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling	9
Editorial Board	9
Development of a Rapid and High-Throughput Multiplex Real-Time PCR Assay for Mycoplasma hominis and Ureaplasma Species	8
Editorial Board	8
Implementation of DNA Methylation Array Profiling in Pediatric Central Nervous System Tumors	8
Clinical Performance Characteristics of the Swift Normalase Amplicon Panel for Sensitive Recovery of Severe Acute Respiratory Syndrome Coronavirus 2 Genomes	8
Editorial Board	8
Rapid and Automated Semiconductor-Based Next-Generation Sequencing for Simultaneous Detection of Somatic DNA and RNA Aberrations in Myeloid Neoplasms	8
Editorial Board	8
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent	8
Analysis of Clinical Laboratory Detecting Challenging Variants from Exome Sequencing Using Simulated Patient–Parent Trio Sample	8
Digital PCR for Minimal Residual Disease Quantitation Using Immunoglobulin/T-Cell Receptor Gene Rearrangements in Acute Lymphoblastic Leukemia	8
Correction	7
Clinical Utility and Performance of an Ultrarapid Multiplex RNA-Based Assay for Detection of ALK, ROS1, RET, and NTRK1/2/3 Rearrangements and MET Exon 14 Skipping Alterations	7
Pan-Tumor Analytical Validation and Osimertinib Clinical Validation in EGFR Mutant Non–Small-Cell Lung Cancer, Supporting the First Next-Generation Sequencing Liquid Biopsy in Vitro Diagnostic	7
Purity Independent Subtyping of Tumors (PurIST) Pancreatic Cancer Classifier	7
Correction	7
Clinical Implementation of a Noninvasive, Multi-Analyte Droplet Digital PCR Test to Screen for Androgen Receptor Alterations	7
Correction	7
Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting	7
Operationalizing Quality Assurance for Clinical Illumina Somatic Next-Generation Sequencing Pipelines	7
Assay Validation of Cell-Free DNA Shallow Whole-Genome Sequencing to Determine Tumor Fraction in Advanced Cancers	7
Clonal Characterization and Somatic Hypermutation Assessment by Next-Generation Sequencing in Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma	7
Correction	7
Editorial Board	7
Molecular Testing in Breast Cancer	7
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease	7
Investigating the Pathogenicity of Uncommon KRAS Mutations and Their Association with Clinicopathologic Characteristics in Patients with Colorectal Cancer	7
Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment	7
DNA Reference Reagents for Genotyping RH Variants	7

Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes	7
Correction	7
Colocalization of Cancer-Associated Biomarkers on Single Extracellular Vesicles for Early Detection of Cancer	7
Toward Cytogenomics	7
Accuracy of Xpert Carba-R Assay for the Diagnosis of Carbapenemase-Producing Organisms from Rectal Swabs and Clinical Isolates	6
Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing	6
Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation	6
Cancer Whole-Genome Sequencing	6
Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory	6
Therapy Monitoring of EGFR-Positive Non–Small-Cell Lung Cancer Patients Using ddPCR Multiplex Assays	6
Performance Evaluation of a Commercial Automated Library Preparation System for Clinical Microbial Whole-Genome Sequencing Assays	6
Leading in a Clinical Molecular Laboratory	6
Development and Performance of a CD8 Gene Signature for Characterizing Inflammation in the Tumor Microenvironment across Multiple Tumor Types	6
Strategic Implementation of Fragile X Carrier Screening in China	6
The Application of Targeted RNA Sequencing for KMT2A–Partial Tandem Duplication Identification and Integrated Analysis of Molecular Characterization in Acute Myeloid Leukemia	6
Performance Characteristics of Next-Generation Sequencing–Based Engraftment Monitoring and Microchimerism Detection in Allogeneic Hematopoietic Cell Transplantation	6
Evaluation of Sensitive Urine DNA-Based PENK Methylation Test for Detecting Bladder Cancer in Patients with Hematuria	6
Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data	6
The Utility of Real-Time PCR, Metagenomic Next-Generation Sequencing, and Culture in Bronchoalveolar Lavage Fluid for Diagnosis of Pulmonary Aspergillosis	6
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions	6
Twenty-Five Years of Germline Genetic Testing and What May Lie Ahead	6
A Magnetic Modulation Biosensing-Based Molecular Assay for Rapid and Highly Sensitive Clinical Diagnosis of Coronavirus Disease 2019 (COVID-19)	6
Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls	6
Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy	6
Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing	6
Chromosomal Junction Detection from Whole-Genome Sequencing on Formalin-Fixed, Paraffin-Embedded Tumors	6
KRAS G12C–Mutant Non–Small Cell Lung Cancer	5
Recommendations for Clinical CYP2D6 Genotyping Allele Selection	5
Evaluation of the TruSight Oncology 500 Assay for Routine Clinical Testing of Tumor Mutational Burden and Clinical Utility for Predicting Response to Pembrolizumab	5
Diagnostic Value and Cost-Effectiveness of Next-Generation Sequencing–Based Testing for Treatment of Patients with Advanced/Metastatic Non-Squamous Non–Small-Cell Lung Cancer in the United States	5
Targeted Genotyping in Clinical Pharmacogenomics	5
Table of Contents	5
DNA Methylation-Based Classification of Small B-Cell Lymphomas	5
Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX	5
Table of Contents	5
Electronic Health Records and Genomics	5
Current and New Next-Generation Sequencing Approaches to Study Mitochondrial DNA	5
Validation of a Next-Generation Sequencing–Based T-Cell Receptor Gamma Gene Rearrangement Diagnostic Assay	5
Table of Contents	5
Detection of Gene Fusion Transcripts in Peripheral T-Cell Lymphoma Using a Multiplexed Targeted Sequencing Assay	5
The Genetic Testing Reference Materials Coordination Program	5
CYP3A4 and CYP3A5 Genotyping Recommendations	5
Fragment Size-Based Enrichment of Viral Sequences in Plasma Cell-Free DNA	5
Clinical Accuracy of Alinity m HR HPV Assay on Self- versus Clinician-Taken Samples Using the VALHUDES Protocol	5
Performance Evaluation of a Next-Generation Sequencing–Based T-Cell Receptor Gene Rearrangement Assay	5
Clinical Implications of a Targeted RNA-Sequencing Panel in the Detection of Gene Fusions in Solid Tumors	5
Title Page	4
Two-Stage Hierarchical Group Testing Strategy to Increase SARS-CoV-2 Testing Capacity at an Institution of Higher Education	4
Abstracts of the AMP Europe 2024 Congress	4
Improvement of Diagnostic Yield by an Additional Amplicon Module to Hybridization-Based Next-Generation Sequencing Panels	4
Detection of Biallelic Loss of DNA Repair Genes in Formalin-Fixed, Paraffin-Embedded Tumor Samples Using a Novel Tumor-Only Sequencing Panel	4
Panel Informativity Optimizer	4
Next-Generation Sequencing–Based Genomic Profiling of Children with Acute Myeloid Leukemia	4
Table of Contents	4
Evaluation of Pre-Analytical Variables for Human Papillomavirus Primary Screening from Self-Collected Vaginal Swabs	4
Table of Contents	4
Development and Validation of StrataNGS, a Multiplex PCR, Semiconductor Sequencing-Based Comprehensive Genomic Profiling Test	4
Table of Contents	4
Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data	4
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains	4
Microarray-Based DNA Methylation Profiling	4
Implementation of a High-Accuracy Targeted Gene Expression Panel for Clinical Care	4
Table of Contents	4
Rapid Lineage Assignment of Severe Acute Respiratory Syndrome Coronavirus 2 Cases through Automated Library Preparation, Sequencing, and Bioinformatic Analysis	4
Author Index	4
Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence	4
Development and Evaluation of a Three-Dimensional Printer–Based DNA Extraction Method Coupled to Loop Mediated Isothermal Amplification for Point-of-Care Diagnosis of Congenital Chagas Disease in Ende	4
Editorial Board	4
The Application of Knowledge Engineering via the Use of a Biomimetic Digital Twin Ecosystem, Phenotype-Driven Variant Analysis, and Exome Sequencing to Understand the Molecular Mechanisms of Disease	4
Hearing Impairment with Monoallelic GJB2 Variants	4
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex	4
Molecular Diagnosis of Toxoplasmosis	4
A Highly Sensitive Pan-Cancer Test for Microsatellite Instability	4
Table of Contents	3
CANTRK	3
Homologous Recombination Deficiency as an Ovarian Cancer Biomarker in a Real-World Cohort	3
Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing	3
Pyrosequencing Assay for BRCA1 Methylation Analysis	3
Machine Learning Analysis Using RNA Sequencing to Distinguish Neuromyelitis Optica from Multiple Sclerosis and Identify Therapeutic Candidates	3
Multicenter Evaluation of the Idylla GeneFusion in Non–Small-Cell Lung Cancer	3
Next-Generation Sequencing Concordance Analysis of Comprehensive Solid Tumor Profiling between a Centralized Specialty Laboratory and the Decentralized Personal Genome Diagnostics elio Tissue Complete	3
The Era of Molecular Hematopathology	3
Interlaboratory Harmonization Study and Prospective Evaluation of the PURE–Trypanosoma cruzi–Loop-Mediated Isothermal Amplification Assay for Detecting Parasite DNA in Newborn's Dried Blood Spots	3
Efficient Detection of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) from Exhaled Breath	3
LYmphoid NeXt-Generation Sequencing (LYNX) Panel	3
Evaluation of a Commercial Multiplexed Molecular Lower Respiratory Panel at a Tertiary Care Cancer Center	3
Analytical Performance Evaluation of a 523-Gene Circulating Tumor DNA Assay for Next-Generation Sequencing–Based Comprehensive Tumor Profiling in Liquid Biopsy Samples	3
Table of Contents	3
NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing	3
The Neoantigen Landscape of the Coding and Noncoding Cancer Genome Space	3
The Correlation between Plasma Circulating Tumor DNA and Radiographic Tumor Burden	3
RT-PCR/MALDI-TOF Diagnostic Target Performance Reflects Circulating SARS-CoV-2 Variant Diversity in New York City	3
Comparison of Results from Two Commercially Available In-House Tissue-Based Comprehensive Genomic Profiling Solutions	3
Author Index	3
Optimizing Insertion and Deletion Detection Using Next-Generation Sequencing in the Clinical Laboratory	3