Journal of Molecular Diagnostics

Article	Citations
Instructions to Authors	63
Considerations for Severe Acute Respiratory Syndrome Coronavirus 2 Genomic Surveillance	53
Validation of Human Papillomavirus Genotyping by Oxford Nanopore Sequencing in Formalin-Fixed, Paraffin-Embedded Tissues and ThinPrep Anal and Gynecologic Samples	48
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY	45
Editorial Board	44
Morphological Bone Score as a Predictive Tool for Molecular Profiling Success	42
Table of Contents	41
Editorial Board	39
miRNAs as Molecular Biomarkers for Prostate Cancer	36
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	34
Correction	34
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors	34
Editorial Board	33
The Molecular Genetic Pathology Fellowship Curriculum	32
Evaluating Discordant Somatic Calls Across Mutation Discovery Approaches to Minimize False-Negative Drug-Resistant Findings	31
Neurotrophin Receptor Kinase	30
A Systematic Method to Detect Next-Generation Sequencing–Based Microsatellite Instability in Plasma Cell-Free DNA	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	29
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	28
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors	27
Editorial Board	25
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent	25
Table of Contents	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	24

A Novel and Comprehensive Whole-Genome Sequencing–Based Preimplantation Genetic Testing Approach for Different Genetic Conditions	24
Editorial Board	23
The Isothermal Amplification AmpFire Assay for Human Papillomavirus (HPV) Detection and Genotyping in Formalin-Fixed, Paraffin-Embedded Oropharyngeal Cancer Samples	23
NTRK Gene Fusion Detection in a Pan-Cancer Setting Using the Idylla GeneFusion Assay	23
Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data	23
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
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions	22
Purity Independent Subtyping of Tumors (PurIST) Pancreatic Cancer Classifier	21
DNA Methylation-Based Classification of Small B-Cell Lymphomas	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
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease	20
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	20
Evaluation of Sensitive Urine DNA-Based PENK Methylation Test for Detecting Bladder Cancer in Patients with Hematuria	19
Twenty-Five Years of Germline Genetic Testing and What May Lie Ahead	19
Clinical Accuracy of Alinity m HR HPV Assay on Self- versus Clinician-Taken Samples Using the VALHUDES Protocol	19
Table of Contents	18
Author Index	18
Comparison of Results from Two Commercially Available In-House Tissue-Based Comprehensive Genomic Profiling Solutions	18
Author Index	17
Multicenter Evaluation of the Idylla GeneFusion in Non–Small-Cell Lung Cancer	17
The Neoantigen Landscape of the Coding and Noncoding Cancer Genome Space	16
Table of Contents	15
PirePred	15
Detection of Biallelic Loss of DNA Repair Genes in Formalin-Fixed, Paraffin-Embedded Tumor Samples Using a Novel Tumor-Only Sequencing Panel	15
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex	15
Optimizing Insertion and Deletion Detection Using Next-Generation Sequencing in the Clinical Laboratory	14
Molecular Diagnosis of Toxoplasmosis	14
Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms	14
New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing	14
Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence	14
FoundationOne CDx and FoundationOne Heme Detect Epstein-Barr Virus with High Sensitivity and Specificity	14
Scientific Integrity Policy	14
Comparison of Targeted RNA-Sequencing Platforms for Oncogenic Fusion Detection in Non–Small-Cell Lung Cancer	14
A Mass Spectrometry–Based Multiplexed Targeted Assay for Detection of Hemoglobinopathies from Dried Blood Spots	14
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
miR-122 and miR-21 are Stable Components of miRNA Signatures of Early Lung Cancer after Validation in Three Independent Cohorts	13
Sensitivity and Specificity of Chimerism Tests in Predicting Leukemia Relapse Using Increasing Mixed Chimerism	13
Evaluation of Pre-Analytical Variables for Human Papillomavirus Primary Screening from Self-Collected Vaginal Swabs	13
Instructions to Authors	13
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders	13
Screening G6PD Mutations in Blood Donors by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry with High-Throughput and Multiple Targets	13
Single-Tube, Switched Temperature Amplicon Barcoding for Multiplex Detection of Rare Mutations in Circulating Tumor DNA	13
Validation of a New High-Throughput BD COR System Using the BD CTGCTV2 Assay	13
Scientific Integrity Policy	13
Utility of Epstein-Barr Viral Load in Blood for Diagnosing and Predicting Prognosis of Lymphoma	13
Minimal/Measurable Residual Disease Monitoring in Patients with Lymphoid Neoplasms by High-Throughput Sequencing of the T-Cell Receptor	12
Analytical Validation of an Automated Semiconductor-Based Next-Generation Sequencing Assay for Detection of DNA and RNA Alterations in Myeloid Neoplasms	12
Diagnostic Capacities for Multidrug-Resistant Tuberculosis in the World Health Organization European Region	12
Economic Impact of Whole Genome Sequencing and Whole Transcriptome Sequencing Versus Routine Diagnostic Molecular Testing to Stratify Patients with B-Cell Acute Lymphoblastic Leukemia	11

Evaluation of Atypical Fluorescence in Situ Hybridization Findings by RNA Sequencing	11
Celebrating 30 Years at the Heart of Precision Medicine	11
Comparison of the Diagnostic Performance of MeltPro and Next-Generation Sequencing in Determining Fluoroquinolone Resistance in Multidrug-Resistant Tuberculosis Isolates	11
Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies	11
Table of Contents	11
Clinical Validation of a Noninvasive Multi-Omics Method for Multicancer Early Detection in Retrospective and Prospective Cohorts	11
Instructions to Authors	11
Author Index	11
Analysis of Molecular Testing for Suspected Myeloproliferative Neoplasm at a Hybrid Community-Academic Health System	10
Editorial Board	10
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	10
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	10
Standardizing Laboratory Practices in Pharmacogenomics (STRIPE) Consensus Conference	10
Table of Contents	10
The Clinical Validity of Urinary Pellet DNA Monitoring for the Diagnosis of Recurrent Bladder Cancer	10
Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay	10
Validation of Long Mononucleotide Repeat Markers for Detection of Microsatellite Instability	10
Validation of the Labcorp Plasma Focus Test to Facilitate Precision Oncology Through Cell-Free DNA Genomic Profiling of Solid Tumors	10
Table of Contents	10
Clinical Implementation of a High-Throughput Automated Comprehensive Genomic Profiling Test	10
Mono- and Biallelic Replication–Coupled Gene Editing Discriminates Dominant-Negative and Loss-of-Function Variants of DNA Mismatch Repair Genes	10
Development of a Body of Knowledge for the Clinical Bioinformatician	10
A Novel Approach to Detect IDH Point Mutations in Gliomas Using Nanopore Sequencing	9
Optical Genome Mapping for Comprehensive Cytogenetic Analysis of Soft-Tissue and Bone Tumors for Diagnostic Purposes	9
In Silico Approaches to Proficiency Testing	9
Table of Contents	9
Evaluation of the Novaplex II HPV28 Detection Assay for HPV Typing in Formalin-Fixed, Paraffin-Embedded Tissues	9
Towards Comprehensive Detection of the SMN1/2 Genotypes: Potential of Long-Read Sequencing in Routine SMA Genetic Testing	9
Updates and Initiatives from The Journal of Molecular Diagnostics	9
Reviewer Acknowledgment	9
Editorial Board	9
Table of Contents	9
Elements in Maintaining a Driving Force	9
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	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
Table of Contents	9
RNA-Based Targeted Gene Sequencing Improves the Diagnostic Yield of Mutant Detection in Chronic Myeloid Leukemia	8
Microcosting Study of Genomic Profiling for Precision Cancer Medicine	8
High Prevalence of Chromosomal Rearrangements and LINE Retrotranspositions Detected in Formalin-Fixed, Paraffin-Embedded Colorectal Cancer Tissue	8
Editorial Board	8
Smart Nonuniformity for Calibrating Sequencing Depth of a Targeted Gene Panel to Simultaneously Detect Somatic and Germline Variants	8
Title Page	8
Equivalent Clinical Accuracy of Human Papillomavirus DNA Testing Using Cobas 4800 and 6800 Human Papillomavirus Systems in Paired Urine and Cervical Samples	8
Disclosure Statement	8
CRISPR-Cas9 Targeted Enrichment and Next-Generation Sequencing for Mutation Detection	8
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	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
Mutational Signatures in Cancer	8
Comparison of the Mutational Profile between BCL2- and BCL6-Rearrangement Positive Follicular Lymphoma	8
Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing	8
Leveraging Off-Target Reads in Panel Sequencing for Homologous Recombination Repair Deficiency Screening in Tumor	8
Ultrasensitive Quantitation of Genomic Chimerism by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing of Copy Number Deletion Polymorphisms	8
Validation and Performance of Quantitative BRCA1 and RAD51C Promoter Hypermethylation Testing in Breast and Ovarian Cancers	8
Overcoming the Pitfalls of Next-Generation Sequencing–Based Molecular Diagnosis of Shwachman-Diamond Syndrome	8
Developing Consensus for a More Provider-Friendly Next-Generation Sequencing Molecular Biomarker Report	7
Correction	7
Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms	7
Table of Contents	7
Table of Contents	7
Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment	7
Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling	7
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	7
Leading in a Clinical Molecular Laboratory	7
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk	7
Informatics Powering Data to Shape the Future of Molecular Pathology	7
Disclosure Statement	6
Editorial Board	6
Investigating the Pathogenicity of Uncommon KRAS Mutations and Their Association with Clinicopathologic Characteristics in Patients with Colorectal Cancer	6
CYP3A4 and CYP3A5 Genotyping Recommendations	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
Validation of a High-Sensitivity Assay for Detection of Chimeric Antigen Receptor T-Cell Vectors Using Low-Partition Digital PCR Technology	6
Editorial Board	6
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	6
Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory	6
Development of a Rapid and High-Throughput Multiplex Real-Time PCR Assay for Mycoplasma hominis and Ureaplasma Species	6
Analytical Performance of the NCI-myeloMATCH Assay	6
Abstracts of the AMP Europe 2024 Congress	6
Editorial Board	6

Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing	6
Evaluation of the TruSight Oncology 500 Assay for Routine Clinical Testing of Tumor Mutational Burden and Clinical Utility for Predicting Response to Pembrolizumab	6
Performance Characteristics of Next-Generation Sequencing–Based Engraftment Monitoring and Microchimerism Detection in Allogeneic Hematopoietic Cell Transplantation	6
Clinical Bioinformatician Body of Knowledge—Clinical Laboratory Regulation and Data Security Core	6
Next-Generation Sequencing–Based Genomic Profiling of Children with Acute Myeloid Leukemia	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