Journal of Molecular Diagnostics

Article	Citations
Editorial Board	118
Instructions to Authors	76
Correction	60
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors	60
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	50
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors	41
Editorial Board	40
Considerations for Severe Acute Respiratory Syndrome Coronavirus 2 Genomic Surveillance	40
Table of Contents	39
Editorial Board	39
Neurotrophin Receptor Kinase	39
Transcriptome Analysis Identifies GATA3-AS1 as a Long Noncoding RNA Associated with Resistance to Neoadjuvant Chemotherapy in Locally Advanced Breast Cancer Patients	37
Evaluating the Clinical Performance of a Dual-Target Stool DNA Test for Colorectal Cancer Detection	36
The Molecular Genetic Pathology Fellowship Curriculum	35
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	33
Diagnostic Utility of Gene Fusion Panel to Detect Gene Fusions in Fresh and Formalin-Fixed, Paraffin-Embedded Cancer Specimens	31
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia	31
miRNAs as Molecular Biomarkers for Prostate Cancer	30
Salivary High-Risk Human Papillomavirus (HPV) DNA as a Biomarker for HPV-Driven Head and Neck Cancers	30
Editorial Board	29
A Novel and Comprehensive Whole-Genome Sequencing–Based Preimplantation Genetic Testing Approach for Different Genetic Conditions	28
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	27
Purity Independent Subtyping of Tumors (PurIST) Pancreatic Cancer Classifier	26
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions	26

Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease	26
Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data	25
Twenty-Five Years of Germline Genetic Testing and What May Lie Ahead	25
Multiple Immunoglobulin κ Gene Rearrangements within a Single Clone Unraveled by Next-Generation Sequencing–Based Clonality Assessment	24
Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls	24
The Isothermal Amplification AmpFire Assay for Human Papillomavirus (HPV) Detection and Genotyping in Formalin-Fixed, Paraffin-Embedded Oropharyngeal Cancer Samples	24
DNA Methylation-Based Classification of Small B-Cell Lymphomas	24
NTRK Gene Fusion Detection in a Pan-Cancer Setting Using the Idylla GeneFusion Assay	23
Analysis of Clinical Laboratory Detecting Challenging Variants from Exome Sequencing Using Simulated Patient–Parent Trio Sample	23
Evaluation of Sensitive Urine DNA-Based PENK Methylation Test for Detecting Bladder Cancer in Patients with Hematuria	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	21
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent	20
Table of Contents	20
Author Index	20
Validation of a Next-Generation Sequencing–Based T-Cell Receptor Gamma Gene Rearrangement Diagnostic Assay	20
Evaluation of Pre-Analytical Variables for Human Papillomavirus Primary Screening from Self-Collected Vaginal Swabs	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	20
Clinical Accuracy of Alinity m HR HPV Assay on Self- versus Clinician-Taken Samples Using the VALHUDES Protocol	20
Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms	19
Sensitivity and Specificity of Chimerism Tests in Predicting Leukemia Relapse Using Increasing Mixed Chimerism	19
Detection of Biallelic Loss of DNA Repair Genes in Formalin-Fixed, Paraffin-Embedded Tumor Samples Using a Novel Tumor-Only Sequencing Panel	19
Utility of Epstein-Barr Viral Load in Blood for Diagnosing and Predicting Prognosis of Lymphoma	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
Optimizing Insertion and Deletion Detection Using Next-Generation Sequencing in the Clinical Laboratory	19
Development and Validation of Signature Sequence–Based PCR for Improved Molecular Diagnosis of Tuberculosis	18
Table of Contents	18
Table of Contents	18
Author Index	18
Scientific Integrity Policy	17
Hearing Impairment with Monoallelic GJB2 Variants	17
PirePred	17
Molecular Diagnosis of Toxoplasmosis	17
Comparison of Results from Two Commercially Available In-House Tissue-Based Comprehensive Genomic Profiling Solutions	17
Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence	16
New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing	16
Editorial Board	16
Comparison of Targeted RNA-Sequencing Platforms for Oncogenic Fusion Detection in Non–Small-Cell Lung Cancer	16
Scientific Integrity Policy	16
A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)	16
The Neoantigen Landscape of the Coding and Noncoding Cancer Genome Space	16
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders	16
miR-122 and miR-21 are Stable Components of miRNA Signatures of Early Lung Cancer after Validation in Three Independent Cohorts	15
Single-Tube, Switched Temperature Amplicon Barcoding for Multiplex Detection of Rare Mutations in Circulating Tumor DNA	15
Minimal/Measurable Residual Disease Monitoring in Patients with Lymphoid Neoplasms by High-Throughput Sequencing of the T-Cell Receptor	15
Instructions to Authors	15
Validation of a New High-Throughput BD COR System Using the BD CTGCTV2 Assay	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	14
Analytical Validation of an Automated Semiconductor-Based Next-Generation Sequencing Assay for Detection of DNA and RNA Alterations in Myeloid Neoplasms	14
Comparison of the Diagnostic Performance of MeltPro and Next-Generation Sequencing in Determining Fluoroquinolone Resistance in Multidrug-Resistant Tuberculosis Isolates	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
Diagnostic Capacities for Multidrug-Resistant Tuberculosis in the World Health Organization European Region	14
Elements in Maintaining a Driving Force	13
Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies	13
Editorial Board	13
In Silico Approaches to Proficiency Testing	13
Identification of Tissue of Origin and Guided Therapeutic Applications in Cancers of Unknown Primary Using Deep Learning and RNA Sequencing (TransCUPtomics)	13
The Clinical Validity of Urinary Pellet DNA Monitoring for the Diagnosis of Recurrent Bladder Cancer	13
A Novel Approach to Detect IDH Point Mutations in Gliomas Using Nanopore Sequencing	13
Mono- and Biallelic Replication–Coupled Gene Editing Discriminates Dominant-Negative and Loss-of-Function Variants of DNA Mismatch Repair Genes	13
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
Table of Contents	13
Optical Genome Mapping for Comprehensive Cytogenetic Analysis of Soft-Tissue and Bone Tumors for Diagnostic Purposes	12
Analysis of Molecular Testing for Suspected Myeloproliferative Neoplasm at a Hybrid Community-Academic Health System	12
Table of Contents	12
Instructions to Authors	12
Comparison of RNA-Based Next-Generation Sequencing Assays for the Detection of NTRK Gene Fusions	12
Celebrating 30 Years at the Heart of Precision Medicine	12
Author Index	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	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
Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay	11
Validation of the Labcorp Plasma Focus Test to Facilitate Precision Oncology Through Cell-Free DNA Genomic Profiling of Solid Tumors	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
Standardizing Laboratory Practices in Pharmacogenomics (STRIPE) Consensus Conference	11
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
Clinically Responsive Genomic Analysis Pipelines	11
Development of a Body of Knowledge for the Clinical Bioinformatician	11
Table of Contents	10
Updates and Initiatives from The Journal of Molecular Diagnostics	10
Clinical Validation of Whole Genome Sequencing for Cancer 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
Equivalent Clinical Accuracy of Human Papillomavirus DNA Testing Using Cobas 4800 and 6800 Human Papillomavirus Systems in Paired Urine and Cervical Samples	10
Comparison of Two Quantitative PCR–Based Assays for Detection of Minimal Residual Disease in B-Precursor Acute Lymphoblastic Leukemia Harboring Three Major Fusion Transcripts	10
Reviewer Acknowledgment	10
Evaluation of the Novaplex II HPV28 Detection Assay for HPV Typing in Formalin-Fixed, Paraffin-Embedded Tissues	10
CRISPR-Cas9 Targeted Enrichment and Next-Generation Sequencing for Mutation Detection	10
Evaluation of Two Commercial Kits on the Automated ELITe InGenius PCR Platform for Molecular Diagnosis of Toxoplasmosis	10
Table of Contents	10
Editorial Board	10
Table of Contents	10
Quality-Assured Analysis of PIK3CA Mutations in Hormone Receptor–Positive/Human Epidermal Growth Factor Receptor 2–Negative Breast Cancer Tissue	10
Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing	10
Leveraging Off-Target Reads in Panel Sequencing for Homologous Recombination Repair Deficiency Screening in Tumor	9
Accurate Detection and Quantification of FLT3 Internal Tandem Duplications in Clinical Hybrid Capture Next-Generation Sequencing Data	9
RNA-Based Targeted Gene Sequencing Improves the Diagnostic Yield of Mutant Detection in Chronic Myeloid Leukemia	9
High Prevalence of Chromosomal Rearrangements and LINE Retrotranspositions Detected in Formalin-Fixed, Paraffin-Embedded Colorectal Cancer Tissue	9
Ultrasensitive Quantitation of Genomic Chimerism by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing of Copy Number Deletion Polymorphisms	9
Table of Contents	9
Editorial Board	9
Validation and Performance of Quantitative BRCA1 and RAD51C Promoter Hypermethylation Testing in Breast and Ovarian Cancers	9
Authors' Reply	8
Overcoming the Pitfalls of Next-Generation Sequencing–Based Molecular Diagnosis of Shwachman-Diamond Syndrome	8
Leading in a Clinical Molecular Laboratory	8
Editorial Board	8
Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling	8
Performance Characteristics of Next-Generation Sequencing–Based Engraftment Monitoring and Microchimerism Detection in Allogeneic Hematopoietic Cell Transplantation	8
Investigating the Pathogenicity of Uncommon KRAS Mutations and Their Association with Clinicopathologic Characteristics in Patients with Colorectal Cancer	8
A Curriculum for Genomic Education of Molecular Genetic Pathology Fellows	8
Mutational Signatures in Cancer	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
Correction	8
Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms	8
Practical Considerations for Using RNA Sequencing in Management of B-Lymphoblastic Leukemia	8
Smart Nonuniformity	8
Editorial Board	8
Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment	8
Molecular Testing in Breast Cancer	8
Development of a Rapid and High-Throughput Multiplex Real-Time PCR Assay for Mycoplasma hominis and Ureaplasma Species	8
Disclosure Statement	7
Validation of a High-Sensitivity Assay for Detection of Chimeric Antigen Receptor T-Cell Vectors Using Low-Partition Digital PCR Technology	7
CANTRK	7
Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory	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
Cost-Effective Cas9-Mediated Targeted Sequencing of Spinocerebellar Ataxia Repeat Expansions	7
NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing	7
Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing	7

Ig Gene Clonality Analysis Using Next-Generation Sequencing for Improved Minimal Residual Disease Detection with Significant Prognostic Value in Multiple Myeloma Patients	7
Editorial Board	7
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk	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
Next-Generation Sequencing–Based Antigen-Receptor Gene Clonality Assays	7
Sequential Approach to Improve the Molecular Classification of Childhood Acute Lymphoblastic Leukemia	7
Production and Performance Assessment of a Severe Acute Respiratory Syndrome Coronavirus 2 Biomimetic in a Verification Program for Pandemic Readiness	7
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	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
CYP3A4 and CYP3A5 Genotyping Recommendations	7
Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing	7
The Era of Molecular Hematopathology	7
The Correlation between Plasma Circulating Tumor DNA and Radiographic Tumor Burden	7