Journal of Molecular Diagnostics

Article	Citations
Instructions to Authors	64
Validation of Human Papillomavirus Genotyping by Oxford Nanopore Sequencing in Formalin-Fixed, Paraffin-Embedded Tissues and ThinPrep Anal and Gynecologic Samples	57
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY	51
Table of Contents	45
Editorial Board	45
Editorial Board	44
Correction	41
Editorial Board	41
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors	38
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	36
The Molecular Genetic Pathology Fellowship Curriculum	36
Evaluating Discordant Somatic Calls Across Mutation Discovery Approaches to Minimize False-Negative Drug-Resistant Findings	35
Morphological Bone Score as a Predictive Tool for Molecular Profiling Success	34
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia	33
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors	32
Evaluating the Clinical Performance of a Dual-Target Stool DNA Test for Colorectal Cancer Detection	32
Neurotrophin Receptor Kinase	32
miRNAs as Molecular Biomarkers for Prostate Cancer	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	29
Considerations for Severe Acute Respiratory Syndrome Coronavirus 2 Genomic Surveillance	29
A Systematic Method to Detect Next-Generation Sequencing–Based Microsatellite Instability in Plasma Cell-Free DNA	28
Table of Contents	26
A Novel and Comprehensive Whole-Genome Sequencing–Based Preimplantation Genetic Testing Approach for Different Genetic Conditions	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
The Isothermal Amplification AmpFire Assay for Human Papillomavirus (HPV) Detection and Genotyping in Formalin-Fixed, Paraffin-Embedded Oropharyngeal Cancer Samples	24

Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls	24
Editorial Board	24
Analysis of Clinical Laboratory Detecting Challenging Variants from Exome Sequencing Using Simulated Patient–Parent Trio Sample	24
NTRK Gene Fusion Detection in a Pan-Cancer Setting Using the Idylla GeneFusion Assay	24
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	23
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions	23
Twenty-Five Years of Germline Genetic Testing and What May Lie Ahead	22
Purity Independent Subtyping of Tumors (PurIST) Pancreatic Cancer Classifier	22
Evaluation of Sensitive Urine DNA-Based PENK Methylation Test for Detecting Bladder Cancer in Patients with Hematuria	22
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease	21
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
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent	20
Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data	20
Clinical Accuracy of Alinity m HR HPV Assay on Self- versus Clinician-Taken Samples Using the VALHUDES Protocol	20
Editorial Board	19
Comparison of Targeted RNA-Sequencing Platforms for Oncogenic Fusion Detection in Non–Small-Cell Lung Cancer	18
Comparison of Results from Two Commercially Available In-House Tissue-Based Comprehensive Genomic Profiling Solutions	18
Detection of Biallelic Loss of DNA Repair Genes in Formalin-Fixed, Paraffin-Embedded Tumor Samples Using a Novel Tumor-Only Sequencing Panel	18
Table of Contents	18
Author Index	17
Author Index	16
Multicenter Evaluation of the Idylla GeneFusion in Non–Small-Cell Lung Cancer	16
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex	16
PirePred	16
The Neoantigen Landscape of the Coding and Noncoding Cancer Genome Space	16
Evaluation of Pre-Analytical Variables for Human Papillomavirus Primary Screening from Self-Collected Vaginal Swabs	15
Molecular Diagnosis of Toxoplasmosis	15
Sensitivity and Specificity of Chimerism Tests in Predicting Leukemia Relapse Using Increasing Mixed Chimerism	15
New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing	15
Screening G6PD Mutations in Blood Donors by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry with High-Throughput and Multiple Targets	15
Table of Contents	15
Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence	15
Optimizing Insertion and Deletion Detection Using Next-Generation Sequencing in the Clinical Laboratory	14
Utility of Epstein-Barr Viral Load in Blood for Diagnosing and Predicting Prognosis of Lymphoma	14
FoundationOne CDx and FoundationOne Heme Detect Epstein-Barr Virus with High Sensitivity and Specificity	14
A Mass Spectrometry–Based Multiplexed Targeted Assay for Detection of Hemoglobinopathies from Dried Blood Spots	14
Scientific Integrity Policy	13
Analytical Validation of an Automated Semiconductor-Based Next-Generation Sequencing Assay for Detection of DNA and RNA Alterations in Myeloid Neoplasms	13
Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms	13
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders	13
Instructions to Authors	13
Minimal/Measurable Residual Disease Monitoring in Patients with Lymphoid Neoplasms by High-Throughput Sequencing of the T-Cell Receptor	13
Scientific Integrity Policy	13
miR-122 and miR-21 are Stable Components of miRNA Signatures of Early Lung Cancer after Validation in Three Independent Cohorts	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
Validation of a New High-Throughput BD COR System Using the BD CTGCTV2 Assay	13
Comparison of the Diagnostic Performance of MeltPro and Next-Generation Sequencing in Determining Fluoroquinolone Resistance in Multidrug-Resistant Tuberculosis Isolates	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	12
Table of Contents	12

Clinical Validation of a Noninvasive Multi-Omics Method for Multicancer Early Detection in Retrospective and Prospective Cohorts	12
Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies	12
Evaluation of Atypical Fluorescence in Situ Hybridization Findings by RNA Sequencing	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	12
In Silico Approaches to Proficiency Testing	11
Development of a Body of Knowledge for the Clinical Bioinformatician	11
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	11
The Clinical Validity of Urinary Pellet DNA Monitoring for the Diagnosis of Recurrent Bladder Cancer	11
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	11
Author Index	11
Elements in Maintaining a Driving Force	11
Standardizing Laboratory Practices in Pharmacogenomics (STRIPE) Consensus Conference	11
Mono- and Biallelic Replication–Coupled Gene Editing Discriminates Dominant-Negative and Loss-of-Function Variants of DNA Mismatch Repair Genes	11
Table of Contents	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
Validation of Long Mononucleotide Repeat Markers for Detection of Microsatellite Instability	10
A Novel Approach to Detect IDH Point Mutations in Gliomas Using Nanopore Sequencing	10
Editorial Board	10
Table of Contents	10
Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay	10
Clinical Implementation of a High-Throughput Automated Comprehensive Genomic Profiling Test	10
Toward Comprehensive Detection of the SMN1/2 Genotypes	9
Instructions to Authors	9
Reviewer Acknowledgment	9
Editorial Board	9
Equivalent Clinical Accuracy of Human Papillomavirus DNA Testing Using Cobas 4800 and 6800 Human Papillomavirus Systems in Paired Urine and Cervical Samples	9
Analysis of Molecular Testing for Suspected Myeloproliferative Neoplasm at a Hybrid Community-Academic Health System	9
Quality-Assured Analysis of PIK3CA Mutations in Hormone Receptor–Positive/Human Epidermal Growth Factor Receptor 2–Negative Breast Cancer Tissue	9
Validation of the Labcorp Plasma Focus Test to Facilitate Precision Oncology Through Cell-Free DNA Genomic Profiling of Solid Tumors	9
Table of Contents	9
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
Optical Genome Mapping for Comprehensive Cytogenetic Analysis of Soft-Tissue and Bone Tumors for Diagnostic Purposes	9
Celebrating 30 Years at the Heart of Precision Medicine	9
Table of Contents	9
Table of Contents	9
Evaluation of the Novaplex II HPV28 Detection Assay for HPV Typing in Formalin-Fixed, Paraffin-Embedded Tissues	9
Table of Contents	9
RNA-Based Targeted Gene Sequencing Improves the Diagnostic Yield of Mutant Detection in Chronic Myeloid Leukemia	8
Updates and Initiatives from The Journal of Molecular Diagnostics	8
High Prevalence of Chromosomal Rearrangements and LINE Retrotranspositions Detected in Formalin-Fixed, Paraffin-Embedded Colorectal Cancer Tissue	8
Developing Consensus for a More Provider-Friendly Next-Generation Sequencing Molecular Biomarker Report	8
Leveraging Off-Target Reads in Panel Sequencing for Homologous Recombination Repair Deficiency Screening in Tumor	8
Microcosting Study of Genomic Profiling for Precision Cancer Medicine	8
Dideoxy Sequencing Enhances Detection of KIT Mutations in Gastrointestinal Stromal Tumors Initially Evaluated by Next-Generation Sequencing Hotspot Panels	8
Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing	8
Smart Nonuniformity for Calibrating Sequencing Depth of a Targeted Gene Panel to Simultaneously Detect Somatic and Germline Variants	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
Comparison of the Mutational Profile between BCL2- and BCL6-Rearrangement Positive Follicular Lymphoma	8
CRISPR-Cas9 Targeted Enrichment and Next-Generation Sequencing for Mutation Detection	8
Disclosure Statement	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
Title Page	8
Table of Contents	7
Validation and Performance of Quantitative BRCA1 and RAD51C Promoter Hypermethylation Testing in Breast and Ovarian Cancers	7
Table of Contents	7
Informatics Powering Data to Shape the Future of Molecular Pathology	7
Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms	7
Ultrasensitive Quantitation of Genomic Chimerism by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing of Copy Number Deletion Polymorphisms	7
Mutational Signatures in Cancer	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
Overcoming the Pitfalls of Next-Generation Sequencing–Based Molecular Diagnosis of Shwachman-Diamond Syndrome	7
Editorial Board	7
Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling	7
Editorial Board	7
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk	7
Ig Gene Clonality Analysis Using Next-Generation Sequencing for Improved Minimal Residual Disease Detection with Significant Prognostic Value in Multiple Myeloma Patients	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
Leading in a Clinical Molecular Laboratory	6
Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory	6
Analytical Performance of the NCI-myeloMATCH Assay	6
Abstracts of the AMP Europe 2024 Congress	6
Clinical Bioinformatician Body of Knowledge—Clinical Laboratory Regulation and Data Security Core	6
CYP3A4 and CYP3A5 Genotyping Recommendations	6
Development of a Rapid and High-Throughput Multiplex Real-Time PCR Assay for Mycoplasma hominis and Ureaplasma Species	6
Performance Characteristics of Next-Generation Sequencing–Based Engraftment Monitoring and Microchimerism Detection in Allogeneic Hematopoietic Cell Transplantation	6
Circulating Tumor DNA	6
The Era of Molecular Hematopathology	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
Correction	6

Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing	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
Editorial Board	6
Next-Generation Sequencing–Based Genomic Profiling of Children with Acute Myeloid Leukemia	6