Journal of Molecular Diagnostics

Article	Citations
Editorial Board	116
Salivary High-Risk Human Papillomavirus (HPV) DNA as a Biomarker for HPV-Driven Head and Neck Cancers	75
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia	62
Instructions to Authors	59
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors	58
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	52
Correction	49
A Systematic Method to Detect Next-Generation Sequencing–Based Microsatellite Instability in Plasma Cell-Free DNA	40
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY	40
A Nonadaptive Combinatorial Group Testing Strategy to Facilitate Health Care Worker Screening during the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Outbreak	39
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors	39
Editorial Board	38
Considerations for Severe Acute Respiratory Syndrome Coronavirus 2 Genomic Surveillance	38
The Molecular Genetic Pathology Fellowship Curriculum	36
Neurotrophin Receptor Kinase	36
Editorial Board	32
miRNAs as Molecular Biomarkers for Prostate Cancer	31
Diagnostic Utility of Gene Fusion Panel to Detect Gene Fusions in Fresh and Formalin-Fixed, Paraffin-Embedded Cancer Specimens	31
Evaluating the Clinical Performance of a Dual-Target Stool DNA Test for Colorectal Cancer Detection	31
Table of Contents	30
Transcriptome Analysis Identifies GATA3-AS1 as a Long Noncoding RNA Associated with Resistance to Neoadjuvant Chemotherapy in Locally Advanced Breast Cancer Patients	30
Editorial Board	29
Multiple Immunoglobulin κ Gene Rearrangements within a Single Clone Unraveled by Next-Generation Sequencing–Based Clonality Assessment	27
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent	27
The Isothermal Amplification AmpFire Assay for Human Papillomavirus (HPV) Detection and Genotyping in Formalin-Fixed, Paraffin-Embedded Oropharyngeal Cancer Samples	26

Purity Independent Subtyping of Tumors (PurIST) Pancreatic Cancer Classifier	26
Evaluation of Sensitive Urine DNA-Based PENK Methylation Test for Detecting Bladder Cancer in Patients with Hematuria	25
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease	25
DNA Methylation-Based Classification of Small B-Cell Lymphomas	24
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions	24
Twenty-Five Years of Germline Genetic Testing and What May Lie Ahead	23
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
Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data	23
Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls	23
Analysis of Clinical Laboratory Detecting Challenging Variants from Exome Sequencing Using Simulated Patient–Parent Trio Sample	22
A Novel and Comprehensive Whole-Genome Sequencing–Based Preimplantation Genetic Testing Approach for Different Genetic Conditions	21
Validation of a Next-Generation Sequencing–Based T-Cell Receptor Gamma Gene Rearrangement Diagnostic Assay	21
Clinical Accuracy of Alinity m HR HPV Assay on Self- versus Clinician-Taken Samples Using the VALHUDES Protocol	20
NTRK Gene Fusion Detection in a Pan-Cancer Setting Using the Idylla GeneFusion Assay	20
Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX	19
KRAS G12C–Mutant Non–Small Cell Lung Cancer	19
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	19
Author Index	19
Development and Validation of Signature Sequence–Based PCR for Improved Molecular Diagnosis of Tuberculosis	18
New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing	18
Evaluation of Pre-Analytical Variables for Human Papillomavirus Primary Screening from Self-Collected Vaginal Swabs	18
Comparison of Targeted RNA-Sequencing Platforms for Oncogenic Fusion Detection in Non–Small-Cell Lung Cancer	18
Hearing Impairment with Monoallelic GJB2 Variants	17
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex	17
Utility of Epstein-Barr Viral Load in Blood for Diagnosing and Predicting Prognosis of Lymphoma	17
Molecular Diagnosis of Toxoplasmosis	17
Table of Contents	17
Author Index	17
Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms	17
Scientific Integrity Policy	16
Sensitivity and Specificity of Chimerism Tests in Predicting Leukemia Relapse Using Increasing Mixed Chimerism	16
PirePred	16
The Neoantigen Landscape of the Coding and Noncoding Cancer Genome Space	16
Comparison of Results from Two Commercially Available In-House Tissue-Based Comprehensive Genomic Profiling Solutions	16
Table of Contents	16
Detection of Biallelic Loss of DNA Repair Genes in Formalin-Fixed, Paraffin-Embedded Tumor Samples Using a Novel Tumor-Only Sequencing Panel	15
Optimizing Insertion and Deletion Detection Using Next-Generation Sequencing in the Clinical Laboratory	15
Scientific Integrity Policy	15
Multicenter Evaluation of the Idylla GeneFusion in Non–Small-Cell Lung Cancer	15
Economic Impact of Whole Genome Sequencing and Whole Transcriptome Sequencing Versus Routine Diagnostic Molecular Testing to Stratify Patients with B-Cell Acute Lymphoblastic Leukemia	15
A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)	15
Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence	15
Editorial Board	15
Diagnostic Capacities for Multidrug-Resistant Tuberculosis in the World Health Organization European Region	14
Analytical Validation of an Automated Semiconductor-Based Next-Generation Sequencing Assay for Detection of DNA and RNA Alterations in Myeloid Neoplasms	14
miR-122 and miR-21 are Stable Components of miRNA Signatures of Early Lung Cancer after Validation in Three Independent Cohorts	14
Evaluating Diagnostic Accuracy of Saliva Sampling Methods for Severe Acute Respiratory Syndrome Coronavirus 2 Reveals Differential Sensitivity and Association with Viral Load	14
Assessment of BCOR Internal Tandem Duplications in Pediatric Cancers by Targeted RNA Sequencing	14
Minimal/Measurable Residual Disease Monitoring in Patients with Lymphoid Neoplasms by High-Throughput Sequencing of the T-Cell Receptor	14
Instructions to Authors	14

Validation of a New High-Throughput BD COR System Using the BD CTGCTV2 Assay	14
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders	14
Identification of Tissue of Origin and Guided Therapeutic Applications in Cancers of Unknown Primary Using Deep Learning and RNA Sequencing (TransCUPtomics)	13
Elements in Maintaining a Driving Force	13
Mono- and Biallelic Replication–Coupled Gene Editing Discriminates Dominant-Negative and Loss-of-Function Variants of DNA Mismatch Repair Genes	13
Comparison of the Diagnostic Performance of MeltPro and Next-Generation Sequencing in Determining Fluoroquinolone Resistance in Multidrug-Resistant Tuberculosis Isolates	13
Rapid Molecular Screen of Spinocerebellar Ataxia Types 1, 2, and 3 by Triplet-Primed PCR and Melting Curve Analysis	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
In Silico Approaches to Proficiency Testing	13
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	13
Single-Tube, Switched Temperature Amplicon Barcoding for Multiplex Detection of Rare Mutations in Circulating Tumor DNA	13
Validation of Long Mononucleotide Repeat Markers for Detection of Microsatellite Instability	13
Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies	13
The Clinical Validity of Urinary Pellet DNA Monitoring for the Diagnosis of Recurrent Bladder Cancer	13
Clinical Validation of a Non-Invasive Multi-Omics Method for Multi-Cancer Early Detection in Retrospective and Prospective Cohorts	13
Analysis of Molecular Testing for Suspected Myeloproliferative Neoplasm at a Hybrid Community-Academic Health System	12
Validation of the Labcorp Plasma Focus Test to Facilitate Precision Oncology Through Cell-Free DNA Genomic Profiling of Solid Tumors	12
Table of Contents	12
Instructions to Authors	12
Author Index	12
A Novel Approach to Detect IDH Point Mutations in Gliomas Using Nanopore Sequencing	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
Editorial Board	12
Development of a Body of Knowledge for the Clinical Bioinformatician	11
Celebrating 30 Years at the Heart of Precision Medicine	11
Clinical Implementation of a High-Throughput Automated Comprehensive Genomic Profiling Test	11
Table of Contents	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
Updates and Initiatives from The Journal of Molecular Diagnostics	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	10
Clinically Responsive Genomic Analysis Pipelines	10
Table of Contents	10
Evaluation of Two Commercial Kits on the Automated ELITe InGenius PCR Platform for Molecular Diagnosis of Toxoplasmosis	10
RNA-Based Targeted Gene Sequencing Improves the Diagnostic Yield of Mutant Detection in Chronic Myeloid Leukemia	10
Optical Genome Mapping for Comprehensive Cytogenetic Analysis of Soft-Tissue and Bone Tumors for Diagnostic Purposes	10
Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay	10
Reviewer Acknowledgment	10
Table of Contents	10
Evaluation of the Novaplex II HPV28 Detection Assay for HPV Typing in Formalin-Fixed, Paraffin-Embedded Tissues	10
Comparison of RNA-Based Next-Generation Sequencing Assays for the Detection of NTRK Gene Fusions	10
Table of Contents	10
Editorial Board	10
Quality-Assured Analysis of PIK3CA Mutations in Hormone Receptor–Positive/Human Epidermal Growth Factor Receptor 2–Negative Breast Cancer Tissue	9
Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing	9
Practical Considerations for Using RNA Sequencing in Management of B-Lymphoblastic Leukemia	9
Leveraging Off-Target Reads in Panel Sequencing for Homologous Recombination Repair Deficiency Screening in Tumor	9
Comparison of Two Quantitative PCR–Based Assays for Detection of Minimal Residual Disease in B-Precursor Acute Lymphoblastic Leukemia Harboring Three Major Fusion Transcripts	9
Clinical Validation of Whole Genome Sequencing for Cancer Diagnostics	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
CRISPR-Cas9 Targeted Enrichment and Next-Generation Sequencing for Mutation Detection	9
Surveillance of Disease Progression in Metastatic Breast Cancer by Molecular Counting of Circulating Tumor DNA Using Plasma-SeqSensei Breast Cancer in Vitro Diagnostics Assay	9
Authors' Reply	9
A Curriculum for Genomic Education of Molecular Genetic Pathology Fellows	8
Mutational Signatures in Cancer	8
Investigating the Pathogenicity of Uncommon KRAS Mutations and Their Association with Clinicopathologic Characteristics in Patients with Colorectal Cancer	8
High Prevalence of Chromosomal Rearrangements and LINE Retrotranspositions Detected in Formalin-Fixed, Paraffin-Embedded Colorectal Cancer Tissue	8
Validation and Performance of Quantitative BRCA1 and RAD51C Promoter Hypermethylation Testing in Breast and Ovarian Cancers	8
Ultrasensitive Quantitation of Genomic Chimerism by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing of Copy Number Deletion Polymorphisms	8
Accurate Detection and Quantification of FLT3 Internal Tandem Duplications in Clinical Hybrid Capture Next-Generation Sequencing Data	8
Editorial Board	8
Overcoming the Pitfalls of Next-Generation Sequencing–Based Molecular Diagnosis of Shwachman-Diamond Syndrome	8
Editorial Board	8
Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory	7
Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing	7
Correction	7
Leading in a Clinical Molecular Laboratory	7
Editorial Board	7
Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling	7
NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing	7
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	7
Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment	7
Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms	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
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
CYP3A4 and CYP3A5 Genotyping Recommendations	7
Abstracts of the AMP Europe 2024 Congress	7
Cost-Effective Cas9-Mediated Targeted Sequencing of Spinocerebellar Ataxia Repeat Expansions	7
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk	7
Performance Characteristics of Next-Generation Sequencing–Based Engraftment Monitoring and Microchimerism Detection in Allogeneic Hematopoietic Cell Transplantation	7

Next-Generation Sequencing–Based Antigen-Receptor Gene Clonality Assays	7
Development of a Rapid and High-Throughput Multiplex Real-Time PCR Assay for Mycoplasma hominis and Ureaplasma Species	7
Molecular Testing in Breast Cancer	7
Editorial Board	7
CANTRK	7