Journal of Molecular Diagnostics

Article	Citations
Instructions to Authors	61
Considerations for Severe Acute Respiratory Syndrome Coronavirus 2 Genomic Surveillance	54
Validation of Human Papillomavirus Genotyping by Oxford Nanopore Sequencing in Formalin-Fixed, Paraffin-Embedded Tissues and ThinPrep Anal and Gynecologic Samples	50
Morphological Bone Score as a Predictive Tool for Molecular Profiling Success	45
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY	44
Evaluating Discordant Somatic Calls Across Mutation Discovery Approaches to Minimize False-Negative Drug-Resistant Findings	42
Editorial Board	42
A Systematic Method to Detect Next-Generation Sequencing–Based Microsatellite Instability in Plasma Cell-Free DNA	41
Table of Contents	38
Editorial Board	36
miRNAs as Molecular Biomarkers for Prostate Cancer	33
Neurotrophin Receptor Kinase	33
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	32
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors	31
Correction	31
Editorial Board	30
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia	29
Evaluating the Clinical Performance of a Dual-Target Stool DNA Test for Colorectal Cancer Detection	28
The Molecular Genetic Pathology Fellowship Curriculum	28
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors	28
Editorial Board	27
Next-Generation Sequencing–Based T-Cell Receptor Gene Rearrangement Analysis in Nodal T Follicular Helper Cell Lymphoma, a Comparison with the EuroClonality/BIOMED-2 Assay	27
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent	25
Twenty-Five Years of Germline Genetic Testing and What May Lie Ahead	25
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	25

Table of Contents	25
A Novel and Comprehensive Whole-Genome Sequencing–Based Preimplantation Genetic Testing Approach for Different Genetic Conditions	24
Analytical and Clinical Evaluation of the AltoStar Adenovirus PCR Kit 1.5 and the AltoStar Automation System AM16 for Adenovirus Detection in Plasma and Stool Samples	23
Editorial Board	23
Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data	23
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions	22
Analysis of Clinical Laboratory Detecting Challenging Variants from Exome Sequencing Using Simulated Patient–Parent Trio Sample	22
Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls	22
Evaluation of Sensitive Urine DNA-Based PENK Methylation Test for Detecting Bladder Cancer in Patients with Hematuria	22
Clinical Accuracy of Alinity m HR HPV Assay on Self- versus Clinician-Taken Samples Using the VALHUDES Protocol	22
The Isothermal Amplification AmpFire Assay for Human Papillomavirus (HPV) Detection and Genotyping in Formalin-Fixed, Paraffin-Embedded Oropharyngeal Cancer Samples	21
NTRK Gene Fusion Detection in a Pan-Cancer Setting Using the Idylla GeneFusion Assay	21
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	20
DNA Methylation-Based Classification of Small B-Cell Lymphomas	20
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease	20
Screening G6PD Mutations in Blood Donors by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry with High-Throughput and Multiple Targets	19
Table of Contents	19
A Mass Spectrometry–Based Multiplexed Targeted Assay for Detection of Hemoglobinopathies from Dried Blood Spots	19
Purity Independent Subtyping of Tumors (PurIST) Pancreatic Cancer Classifier	19
Comparison of Targeted RNA-Sequencing Platforms for Oncogenic Fusion Detection in Non–Small-Cell Lung Cancer	19
Comparison of Results from Two Commercially Available In-House Tissue-Based Comprehensive Genomic Profiling Solutions	19
Scientific Integrity Policy	18
FoundationOne CDx and FoundationOne Heme Detect Epstein-Barr Virus with High Sensitivity and Specificity	18
Optimizing Insertion and Deletion Detection Using Next-Generation Sequencing in the Clinical Laboratory	18
Sensitivity and Specificity of Chimerism Tests in Predicting Leukemia Relapse Using Increasing Mixed Chimerism	18
New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing	18
Detection of Biallelic Loss of DNA Repair Genes in Formalin-Fixed, Paraffin-Embedded Tumor Samples Using a Novel Tumor-Only Sequencing Panel	17
Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence	17
Author Index	16
The Neoantigen Landscape of the Coding and Noncoding Cancer Genome Space	15
Utility of Epstein-Barr Viral Load in Blood for Diagnosing and Predicting Prognosis of Lymphoma	15
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex	15
Multicenter Evaluation of the Idylla GeneFusion in Non–Small-Cell Lung Cancer	15
Molecular Diagnosis of Toxoplasmosis	15
Evaluation of Pre-Analytical Variables for Human Papillomavirus Primary Screening from Self-Collected Vaginal Swabs	14
Author Index	14
Scientific Integrity Policy	14
Table of Contents	14
Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms	14
PirePred	14
Comparison of the Diagnostic Performance of MeltPro and Next-Generation Sequencing in Determining Fluoroquinolone Resistance in Multidrug-Resistant Tuberculosis Isolates	13
Validation of a New High-Throughput BD COR System Using the BD CTGCTV2 Assay	13
Evaluation of Atypical Fluorescence in Situ Hybridization Findings by RNA Sequencing	13
Validation of a DNA-Based Next-Generation Sequencing Test for Molecular Diagnostic Variant and Fusion Detection in Formalin-Fixed, Paraffin-Embedded Tissue Specimens and Liquid Biopsy Plasma/Cell-Free	13
Instructions to Authors	13
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders	13
Economic Impact of Whole Genome Sequencing and Whole Transcriptome Sequencing Versus Routine Diagnostic Molecular Testing to Stratify Patients with B-Cell Acute Lymphoblastic Leukemia	13
Analytical Validation of an Automated Semiconductor-Based Next-Generation Sequencing Assay for Detection of DNA and RNA Alterations in Myeloid Neoplasms	13
Single-Tube, Switched Temperature Amplicon Barcoding for Multiplex Detection of Rare Mutations in Circulating Tumor DNA	13
Diagnostic Capacities for Multidrug-Resistant Tuberculosis in the World Health Organization European Region	13

miR-122 and miR-21 are Stable Components of miRNA Signatures of Early Lung Cancer after Validation in Three Independent Cohorts	12
Celebrating 30 Years at the Heart of Precision Medicine	12
Development, Validation, and Implementation of an Augmented Multiwell, Multitarget Quantitative PCR for the Analysis of Human Papillomavirus Genotyping through Software Automation, Data Science, and A	12
Minimal/Measurable Residual Disease Monitoring in Patients with Lymphoid Neoplasms by High-Throughput Sequencing of the T-Cell Receptor	12
Instructions to Authors	12
Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies	12
Clinical Validation of a Noninvasive Multi-Omics Method for Multicancer Early Detection in Retrospective and Prospective Cohorts	12
Analysis of Molecular Testing for Suspected Myeloproliferative Neoplasm at a Hybrid Community-Academic Health System	12
Reverse-Transcription Loop-Mediated Isothermal Amplification Has High Accuracy for Detecting Severe Acute Respiratory Syndrome Coronavirus 2 in Saliva and Nasopharyngeal/Oropharyngeal Swabs from Asymp	11
Development of a Body of Knowledge for the Clinical Bioinformatician	11
Validation of Long Mononucleotide Repeat Markers for Detection of Microsatellite Instability	11
Clinical Implementation of a High-Throughput Automated Comprehensive Genomic Profiling Test	11
Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay	11
Mono- and Biallelic Replication–Coupled Gene Editing Discriminates Dominant-Negative and Loss-of-Function Variants of DNA Mismatch Repair Genes	11
The Clinical Validity of Urinary Pellet DNA Monitoring for the Diagnosis of Recurrent Bladder Cancer	11
Standardizing Laboratory Practices in Pharmacogenomics (STRIPE) Consensus Conference	11
Elements in Maintaining a Driving Force	10
Validation of the Labcorp Plasma Focus Test to Facilitate Precision Oncology Through Cell-Free DNA Genomic Profiling of Solid Tumors	10
In Silico Approaches to Proficiency Testing	10
Table of Contents	10
A Novel Approach to Detect IDH Point Mutations in Gliomas Using Nanopore Sequencing	10
Comparison of RNA-Based Next-Generation Sequencing Assays for the Detection of NTRK Gene Fusions	10
Editorial Board	10
A Well-Curated Cost-Effective Next-Generation Sequencing Panel Identifies a Diverse Landscape of Pathogenic and Novel Germline Variants in a Bone Marrow Failure Cohort in a Resource-Constraint Setting	10
Optical Genome Mapping for Comprehensive Cytogenetic Analysis of Soft-Tissue and Bone Tumors for Diagnostic Purposes	10
Quantitative Off-Target Detection of Epstein-Barr Virus–Derived DNA in Routine Molecular Profiling of Hematopoietic Neoplasms by Panel-Based Hybrid-Capture Next-Generation Sequencing	9
Table of Contents	9
Equivalent Clinical Accuracy of Human Papillomavirus DNA Testing Using Cobas 4800 and 6800 Human Papillomavirus Systems in Paired Urine and Cervical Samples	9
Quality-Assured Analysis of PIK3CA Mutations in Hormone Receptor–Positive/Human Epidermal Growth Factor Receptor 2–Negative Breast Cancer Tissue	9
Table of Contents	9
Updates and Initiatives from The Journal of Molecular Diagnostics	9
RNA-Based Targeted Gene Sequencing Improves the Diagnostic Yield of Mutant Detection in Chronic Myeloid Leukemia	9
Evaluation of the Novaplex II HPV28 Detection Assay for HPV Typing in Formalin-Fixed, Paraffin-Embedded Tissues	9
Table of Contents	9
Comparison of the Mutational Profile between BCL2- and BCL6-Rearrangement Positive Follicular Lymphoma	9
Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing	9
Table of Contents	9
Editorial Board	9
Table of Contents	9
Author Index	9
CRISPR-Cas9 Targeted Enrichment and Next-Generation Sequencing for Mutation Detection	9
Microcosting Study of Genomic Profiling for Precision Cancer Medicine	9
High Prevalence of Chromosomal Rearrangements and LINE Retrotranspositions Detected in Formalin-Fixed, Paraffin-Embedded Colorectal Cancer Tissue	8
Surveillance of Disease Progression in Metastatic Breast Cancer by Molecular Counting of Circulating Tumor DNA Using Plasma-SeqSensei Breast Cancer in Vitro Diagnostics Assay	8
Overcoming the Pitfalls of Next-Generation Sequencing–Based Molecular Diagnosis of Shwachman-Diamond Syndrome	8
Editorial Board	8
Table of Contents	8
Ultrasensitive Quantitation of Genomic Chimerism by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing of Copy Number Deletion Polymorphisms	8
Table of Contents	8
Smart Nonuniformity for Calibrating Sequencing Depth of a Targeted Gene Panel to Simultaneously Detect Somatic and Germline Variants	8
Developing Consensus for a More Provider-Friendly Next-Generation Sequencing Molecular Biomarker Report	8
Reviewer Acknowledgment	8
Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling	8
Investigating the Pathogenicity of Uncommon KRAS Mutations and Their Association with Clinicopathologic Characteristics in Patients with Colorectal Cancer	8
Leveraging Off-Target Reads in Panel Sequencing for Homologous Recombination Repair Deficiency Screening in Tumor	8
Validation and Performance of Quantitative BRCA1 and RAD51C Promoter Hypermethylation Testing in Breast and Ovarian Cancers	8
Comparative Performance of a Targeted Next-Generation Sequencing Assay Against Multiplexed Digital PCR Assays in Detecting ERBB2, ESR1, and PIK3CA Mutations in Plasma Circulating Cell-Free DNA from Li	8
Mutational Signatures in Cancer	8
Informatics Powering Data to Shape the Future of Molecular Pathology	8
Editorial Board	8
Molecular Testing in Breast Cancer	7
CYP3A4 and CYP3A5 Genotyping Recommendations	7
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	7
Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment	7
Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory	7
Evaluation of the TruSight Oncology 500 Assay for Routine Clinical Testing of Tumor Mutational Burden and Clinical Utility for Predicting Response to Pembrolizumab	7
Correction	7
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk	7
Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing	7
Performance Characteristics of Next-Generation Sequencing–Based Engraftment Monitoring and Microchimerism Detection in Allogeneic Hematopoietic Cell Transplantation	7
Leading in a Clinical Molecular Laboratory	7
Development of a Rapid and High-Throughput Multiplex Real-Time PCR Assay for Mycoplasma hominis and Ureaplasma Species	7
Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms	7
Development and Validation of StrataNGS, a Multiplex PCR, Semiconductor Sequencing-Based Comprehensive Genomic Profiling Test	6
Next-Generation Sequencing–Based Genomic Profiling of Children with Acute Myeloid Leukemia	6
Analytical Performance of the NCI-myeloMATCH Assay	6
Real-Time, Multiplexed SHERLOCK for in Vitro Diagnostics	6
A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia	6
Validation of a High-Sensitivity Assay for Detection of Chimeric Antigen Receptor T-Cell Vectors Using Low-Partition Digital PCR Technology	6
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	6

Editorial Board	6
Abstracts of the AMP Europe 2024 Congress	6
Production and Performance Assessment of a Severe Acute Respiratory Syndrome Coronavirus 2 Biomimetic in a Verification Program for Pandemic Readiness	6
CANTRK	6
Ig Gene Clonality Analysis Using Next-Generation Sequencing for Improved Minimal Residual Disease Detection with Significant Prognostic Value in Multiple Myeloma Patients	6
Circulating Tumor DNA	6
Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing	6
Clinical Bioinformatician Body of Knowledge—Clinical Laboratory Regulation and Data Security Core	6
Disclosure Statement	6
Editorial Board	6
Homologous Recombination Deficiency as an Ovarian Cancer Biomarker in a Real-World Cohort	6