Journal of Molecular Diagnostics

Article	Citations
Editorial Board	125
Instructions to Authors	81
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors	61
Correction	57
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY	53
A Systematic Method to Detect Next-Generation Sequencing–Based Microsatellite Instability in Plasma Cell-Free DNA	43
Considerations for Severe Acute Respiratory Syndrome Coronavirus 2 Genomic Surveillance	42
Editorial Board	41
Editorial Board	40
Neurotrophin Receptor Kinase	40
Table of Contents	40
The Molecular Genetic Pathology Fellowship Curriculum	39
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	37
Evaluating Discordant Somatic Calls Across Mutation Discovery Approaches to Minimize False-Negative Drug-Resistant Findings	32
Morphological Bone Score as a Predictive Tool for Molecular Profiling Success	31
Validation of Human Papillomavirus Genotyping by Oxford Nanopore Sequencing in Formalin-Fixed, Paraffin-Embedded Tissues and ThinPrep Anal and Gynecologic Samples	30
Transcriptome Analysis Identifies GATA3-AS1 as a Long Noncoding RNA Associated with Resistance to Neoadjuvant Chemotherapy in Locally Advanced Breast Cancer Patients	29
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia	28
miRNAs as Molecular Biomarkers for Prostate Cancer	28
Diagnostic Utility of Gene Fusion Panel to Detect Gene Fusions in Fresh and Formalin-Fixed, Paraffin-Embedded Cancer Specimens	27
Evaluating the Clinical Performance of a Dual-Target Stool DNA Test for Colorectal Cancer Detection	27
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors	27
Salivary High-Risk Human Papillomavirus (HPV) DNA as a Biomarker for HPV-Driven Head and Neck Cancers	26
A Novel and Comprehensive Whole-Genome Sequencing–Based Preimplantation Genetic Testing Approach for Different Genetic Conditions	26
Editorial Board	26

Clinical Accuracy of Alinity m HR HPV Assay on Self- versus Clinician-Taken Samples Using the VALHUDES Protocol	25
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent	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
Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data	24
Evaluation of Sensitive Urine DNA-Based PENK Methylation Test for Detecting Bladder Cancer in Patients with Hematuria	24
The Isothermal Amplification AmpFire Assay for Human Papillomavirus (HPV) Detection and Genotyping in Formalin-Fixed, Paraffin-Embedded Oropharyngeal Cancer Samples	22
Twenty-Five Years of Germline Genetic Testing and What May Lie Ahead	22
Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls	22
Multiple Immunoglobulin κ Gene Rearrangements within a Single Clone Unraveled by Next-Generation Sequencing–Based Clonality Assessment	22
Purity Independent Subtyping of Tumors (PurIST) Pancreatic Cancer Classifier	22
Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX	21
NTRK Gene Fusion Detection in a Pan-Cancer Setting Using the Idylla GeneFusion Assay	21
Table of Contents	21
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions	20
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease	20
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
Analysis of Clinical Laboratory Detecting Challenging Variants from Exome Sequencing Using Simulated Patient–Parent Trio Sample	20
Table of Contents	19
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex	19
Multicenter Evaluation of the Idylla GeneFusion in Non–Small-Cell Lung Cancer	19
Author Index	19
Author Index	19
Utility of Epstein-Barr Viral Load in Blood for Diagnosing and Predicting Prognosis of Lymphoma	19
DNA Methylation-Based Classification of Small B-Cell Lymphomas	19
Comparison of Results from Two Commercially Available In-House Tissue-Based Comprehensive Genomic Profiling Solutions	18
PirePred	18
Table of Contents	18
Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence	17
The Neoantigen Landscape of the Coding and Noncoding Cancer Genome Space	17
Sensitivity and Specificity of Chimerism Tests in Predicting Leukemia Relapse Using Increasing Mixed Chimerism	17
Scientific Integrity Policy	17
Hearing Impairment with Monoallelic GJB2 Variants	17
Detection of Biallelic Loss of DNA Repair Genes in Formalin-Fixed, Paraffin-Embedded Tumor Samples Using a Novel Tumor-Only Sequencing Panel	17
Evaluation of Pre-Analytical Variables for Human Papillomavirus Primary Screening from Self-Collected Vaginal Swabs	16
Molecular Diagnosis of Toxoplasmosis	16
Optimizing Insertion and Deletion Detection Using Next-Generation Sequencing in the Clinical Laboratory	16
Development and Validation of Signature Sequence–Based PCR for Improved Molecular Diagnosis of Tuberculosis	16
New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing	16
Comparison of Targeted RNA-Sequencing Platforms for Oncogenic Fusion Detection in Non–Small-Cell Lung Cancer	16
Screening G6PD Mutations in Blood Donors by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry with High-Throughput and Multiple Targets	15
Technical Advance, FoundationOne CDx and FoundationOne Heme Detect Epstein-Barr Virus with High Sensitivity and Specificity	15
A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)	15
Minimal/Measurable Residual Disease Monitoring in Patients with Lymphoid Neoplasms by High-Throughput Sequencing of the T-Cell Receptor	14
Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms	14
Single-Tube, Switched Temperature Amplicon Barcoding for Multiplex Detection of Rare Mutations in Circulating Tumor DNA	14
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders	14
Instructions to Authors	14
Scientific Integrity Policy	14
Clinical Validation of a Noninvasive Multi-Omics Method for Multicancer Early Detection in Retrospective and Prospective 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

miR-122 and miR-21 are Stable Components of miRNA Signatures of Early Lung Cancer after Validation in Three Independent Cohorts	13
Assessment of BCOR Internal Tandem Duplications in Pediatric Cancers by Targeted RNA Sequencing	13
Validation of a New High-Throughput BD COR System Using the BD CTGCTV2 Assay	13
Identification of Tissue of Origin and Guided Therapeutic Applications in Cancers of Unknown Primary Using Deep Learning and RNA Sequencing (TransCUPtomics)	13
Comparison of the Diagnostic Performance of MeltPro and Next-Generation Sequencing in Determining Fluoroquinolone Resistance in Multidrug-Resistant Tuberculosis Isolates	13
Evaluating Diagnostic Accuracy of Saliva Sampling Methods for Severe Acute Respiratory Syndrome Coronavirus 2 Reveals Differential Sensitivity and Association with Viral Load	13
Diagnostic Capacities for Multidrug-Resistant Tuberculosis in the World Health Organization European Region	13
Analytical Validation of an Automated Semiconductor-Based Next-Generation Sequencing Assay for Detection of DNA and RNA Alterations in Myeloid Neoplasms	13
A Novel Approach to Detect IDH Point Mutations in Gliomas Using Nanopore Sequencing	12
In Silico Approaches to Proficiency Testing	12
Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies	12
Elements in Maintaining a Driving Force	12
Mono- and Biallelic Replication–Coupled Gene Editing Discriminates Dominant-Negative and Loss-of-Function Variants of DNA Mismatch Repair Genes	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
Editorial Board	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
Celebrating 30 Years at the Heart of Precision Medicine	11
Development of a Body of Knowledge for the Clinical Bioinformatician	11
Author Index	11
The Clinical Validity of Urinary Pellet DNA Monitoring for the Diagnosis of Recurrent Bladder Cancer	11
Analysis of Molecular Testing for Suspected Myeloproliferative Neoplasm at a Hybrid Community-Academic Health System	11
Instructions to Authors	11
Table of Contents	11
Comparison of RNA-Based Next-Generation Sequencing Assays for the Detection of NTRK Gene Fusions	11
Table of Contents	11
Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay	10
Clinical Implementation of a High-Throughput Automated Comprehensive Genomic Profiling Test	10
Standardizing Laboratory Practices in Pharmacogenomics (STRIPE) Consensus Conference	10
Table of Contents	10
Validation of Long Mononucleotide Repeat Markers for Detection of Microsatellite Instability	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
Reviewer Acknowledgment	10
Validation of the Labcorp Plasma Focus Test to Facilitate Precision Oncology Through Cell-Free DNA Genomic Profiling of Solid Tumors	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
Table of Contents	10
Editorial Board	10
Table of Contents	9
Evaluation of the Novaplex II HPV28 Detection Assay for HPV Typing in Formalin-Fixed, Paraffin-Embedded Tissues	9
Microcosting Study of Genomic Profiling for Precision Cancer Medicine Application from the National Infrastructure for Precision Diagnostics in Norway	9
Updates and Initiatives from The Journal of Molecular Diagnostics	9
Equivalent Clinical Accuracy of Human Papillomavirus DNA Testing Using Cobas 4800 and 6800 Human Papillomavirus Systems in Paired Urine and Cervical Samples	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
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
Quality-Assured Analysis of PIK3CA Mutations in Hormone Receptor–Positive/Human Epidermal Growth Factor Receptor 2–Negative Breast Cancer Tissue	9
CRISPR-Cas9 Targeted Enrichment and Next-Generation Sequencing for Mutation Detection	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
RNA-Based Targeted Gene Sequencing Improves the Diagnostic Yield of Mutant Detection in Chronic Myeloid Leukemia	9
Leveraging Off-Target Reads in Panel Sequencing for Homologous Recombination Repair Deficiency Screening in Tumor	8
Overcoming the Pitfalls of Next-Generation Sequencing–Based Molecular Diagnosis of Shwachman-Diamond Syndrome	8
Practical Considerations for Using RNA Sequencing in Management of B-Lymphoblastic Leukemia	8
Mutational Signatures in Cancer	8
Ultrasensitive Quantitation of Genomic Chimerism by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing of Copy Number Deletion Polymorphisms	8
High Prevalence of Chromosomal Rearrangements and LINE Retrotranspositions Detected in Formalin-Fixed, Paraffin-Embedded Colorectal Cancer Tissue	8
A Curriculum for Genomic Education of Molecular Genetic Pathology Fellows	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
Table of Contents	8
Editorial Board	8
Accurate Detection and Quantification of FLT3 Internal Tandem Duplications in Clinical Hybrid Capture Next-Generation Sequencing Data	8
Validation and Performance of Quantitative BRCA1 and RAD51C Promoter Hypermethylation Testing in Breast and Ovarian Cancers	8
Investigating the Pathogenicity of Uncommon KRAS Mutations and Their Association with Clinicopathologic Characteristics in Patients with Colorectal Cancer	7
Development of a Rapid and High-Throughput Multiplex Real-Time PCR Assay for Mycoplasma hominis and Ureaplasma Species	7
Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory	7
Editorial Board	7
Molecular Testing in Breast Cancer	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
Leading in a Clinical Molecular Laboratory	7
Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing	7
Editorial Board	7
Cost-Effective Cas9-Mediated Targeted Sequencing of Spinocerebellar Ataxia Repeat Expansions	7
CYP3A4 and CYP3A5 Genotyping Recommendations	7
Performance Characteristics of Next-Generation Sequencing–Based Engraftment Monitoring and Microchimerism Detection in Allogeneic Hematopoietic Cell Transplantation	7
Correction	7
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk	7
Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling	7
Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms	7
Table of Contents	7

CANTRK	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
Evaluation of the TruSight Oncology 500 Assay for Routine Clinical Testing of Tumor Mutational Burden and Clinical Utility for Predicting Response to Pembrolizumab	7
Editorial Board	7
Next-Generation Sequencing–Based Antigen-Receptor Gene Clonality Assays	7