Journal of Molecular Diagnostics

Article	Citations
Recommendations for Clinical CYP2D6 Genotyping Allele Selection	92
A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)	62
Performance of Severe Acute Respiratory Syndrome Coronavirus 2 Real-Time RT-PCR Tests on Oral Rinses and Saliva Samples	56
Clinical Validation of Whole Genome Sequencing for Cancer Diagnostics	51
Clinical Impact of Metagenomic Next-Generation Sequencing of Bronchoalveolar Lavage in the Diagnosis and Management of Pneumonia	47
KRAS G12C–Mutant Non–Small Cell Lung Cancer	46
Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy	36
Multiplex PCR Assays for Identifying all Major Severe Acute Respiratory Syndrome Coronavirus 2 Variants	36
Development and Evaluation of a Fully Automated Molecular Assay Targeting the Mitochondrial Small Subunit rRNA Gene for the Detection of Pneumocystis jirovecii in Bronchoalveolar Lavage Fluid Specimen	35
Dynamics of Blood Viral Load Is Strongly Associated with Clinical Outcomes in Coronavirus Disease 2019 (COVID-19) Patients	35
CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis	32
Development of a New Multiplex Real-Time RT-PCR Assay for Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Detection	31
Plasma Cell-Free Human Papillomavirus Oncogene E6 and E7 DNA Predicts Outcome in Oropharyngeal Squamous Cell Carcinoma	31
TPMT and NUDT15 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, Clinical Pharmacogenetics Implementation Consortium, College of American Pathol	30
Evaluation of a New Histoplasma spp. Quantitative RT-PCR Assay	30
Ct Values Do Not Predict Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Transmissibility in College Students	29
Evaluation of the TruSight Oncology 500 Assay for Routine Clinical Testing of Tumor Mutational Burden and Clinical Utility for Predicting Response to Pembrolizumab	29
Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms	29
Salivary High-Risk Human Papillomavirus (HPV) DNA as a Biomarker for HPV-Driven Head and Neck Cancers	27
Comparison of 12 Molecular Detection Assays for Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2)	27
Targeted Next-Generation Sequencing and Allele-Specific Quantitative PCR of Laser Capture Microdissected Samples Uncover Molecular Differences in Mixed Odontogenic Tumors	26
Current and New Next-Generation Sequencing Approaches to Study Mitochondrial DNA	26
Next-Generation Sequencing–Based Clonality Assessment of Ig Gene Rearrangements	26
A Pan-Cancer Study of Somatic TERT Promoter Mutations and Amplification in 30,773 Tumors Profiled by Clinical Genomic Sequencing	25
External Quality Assessment for Molecular Detection of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) in Clinical Laboratories	24

Clinical Experience of Cerebrospinal Fluid–Based Liquid Biopsy Demonstrates Superiority of Cell-Free DNA over Cell Pellet Genomic DNA for Molecular Profiling	23
A Comparative Study of Real-Time RT-PCR–Based SARS-CoV-2 Detection Methods and Its Application to Human-Derived and Surface Swabbed Material	23
Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases	22
Detection of Gene Fusion Transcripts in Peripheral T-Cell Lymphoma Using a Multiplexed Targeted Sequencing Assay	22
CYP3A4 and CYP3A5 Genotyping Recommendations	22
Validation, Implementation, and Clinical Utility of Whole Genome Sequence-Based Bacterial Identification in the Clinical Microbiology Laboratory	22
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	22
Optimization and Validation of Multimodular, Long-Range PCR–Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex	21
Diagnostic Strategies toward Clinical Implementation of Liquid Biopsy RAS/BRAF Circulating Tumor DNA Analyses in Patients with Metastatic Colorectal Cancer	21
Routine Evaluation of Minimal Residual Disease in Myeloma Using Next-Generation Sequencing Clonality Testing	21
A Novel Next-Generation Sequencing–Based Approach for Concurrent Detection of Mitochondrial DNA Copy Number and Mutation	21
Evaluation of the Oncomine Pan-Cancer Cell-Free Assay for Analyzing Circulating Tumor DNA in the Cerebrospinal Fluid in Patients with Central Nervous System Malignancies	21
Rapid EGFR Mutation Detection Using the Idylla Platform	21
Prolonged Unfrozen Storage and Repeated Freeze-Thawing of SARS-CoV-2 Patient Samples Have Minor Effects on SARS-CoV-2 Detectability by RT-PCR	21
Discordance between Immunohistochemistry and Erb-B2 Receptor Tyrosine Kinase 2 mRNA to Determine Human Epidermal Growth Factor Receptor 2 Low Status for Breast Cancer	20
Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence	20
Comprehensive Analysis of Spinal Muscular Atrophy	19
Comparison of Pathogenicity Prediction Tools on Somatic Variants	19
A One-Pot CRISPR/Cas9-Typing PCR for DNA Detection and Genotyping	19
RNA-Seq Reveals Differences in Expressed Tumor Mutation Burden in Colorectal and Endometrial Cancers with and without Defective DNA-Mismatch Repair	19
SARS-CoV-2 RNA Quantification Using Droplet Digital RT-PCR	19
Recommendations for Cell-Free DNA Assay Validations	19
Homologous Recombination Deficiency as an Ovarian Cancer Biomarker in a Real-World Cohort	18
Multiplex High-Resolution Melting Assay for Simultaneous Identification of Molecular Markers Associated with Extended-Spectrum Cephalosporins and Azithromycin Resistance in Neisseria gonorrhoeae	18
Molecular Testing in Breast Cancer	18
Identification of Tissue of Origin and Guided Therapeutic Applications in Cancers of Unknown Primary Using Deep Learning and RNA Sequencing (TransCUPtomics)	18
Performance Characteristics of Severe Acute Respiratory Syndrome Coronavirus 2 RT-PCR Tests in a Single Health System	18
Therapy Monitoring of EGFR-Positive Non–Small-Cell Lung Cancer Patients Using ddPCR Multiplex Assays	17
Clinical Whole Genome Sequencing for Clarithromycin and Amikacin Resistance Prediction and Subspecies Identification of Mycobacterium abscessus	17
Next-Generation Sequencing Is More Efficient at Detecting Mosaic Embryos and Improving Pregnancy Outcomes than Single-Nucleotide Polymorphism Array Analysis	17
Highly Sensitive Detection Method of Retinoblastoma Genetic Predisposition and Biomarkers	16
Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing	16
Validation Study of a Direct Real-Time PCR Protocol for Detection of Monkeypox Virus	16
Validation of Long Mononucleotide Repeat Markers for Detection of Microsatellite Instability	15
The Lund Molecular Taxonomy Applied to Non–Muscle-Invasive Urothelial Carcinoma	15
Evaluating Targeted Next-Generation Sequencing Assays and Reference Materials for NTRK Fusion Detection	15
Noninvasive Detection of Hepatocellular Carcinoma with Circulating Tumor DNA Features and α-Fetoprotein	15
Evaluating the Clinical Performance of a Dual-Target Stool DNA Test for Colorectal Cancer Detection	15
Minimal Residual Disease Monitoring Using a 3′ALK Universal Probe Assay in ALK-Positive Anaplastic Large-Cell Lymphoma	15
Development and Evaluation of a Three-Dimensional Printer–Based DNA Extraction Method Coupled to Loop Mediated Isothermal Amplification for Point-of-Care Diagnosis of Congenital Chagas Disease in Ende	15
Identification and Validation of Noncanonical RET Fusions in Non–Small-Cell Lung Cancer through DNA and RNA Sequencing	14
Microchip RT-PCR Detection of Nasopharyngeal SARS-CoV-2 Samples	14
Comparison of Illumina and Oxford Nanopore Sequencing Technologies for Pathogen Detection from Clinical Matrices Using Molecular Inversion Probes	14
Characterization of Reference Materials for TPMT and NUDT15	14
Real-World Utilization of Biomarker Testing for Patients with Advanced Non–Small Cell Lung Cancer in a Tertiary Referral Center and Referring Hospitals	14
Multicenter Evaluation of the Idylla GeneFusion in Non–Small-Cell Lung Cancer	14
Real-Life Head-to-Head Comparison of Performance of Two High-Throughput Automated Assays for the Detection of SARS-CoV-2 RNA in Nasopharyngeal Swabs	14
Defining Novel DNA Virus-Tumor Associations and Genomic Correlates Using Prospective Clinical Tumor/Normal Matched Sequencing Data	14
Targeted Genotyping in Clinical Pharmacogenomics	14
Multiplexed Quantification of Four Neuroblastoma DNA Targets in a Single Droplet Digital PCR Reaction	13

Clinical Utility and Performance of an Ultrarapid Multiplex RNA-Based Assay for Detection of ALK, ROS1, RET, and NTRK1/2/3 Rearrangements and MET Exon 14 Skipping Alterations	13
Diagnostic Utility of Gene Fusion Panel to Detect Gene Fusions in Fresh and Formalin-Fixed, Paraffin-Embedded Cancer Specimens	13
Validation of Whole Genome Methylation Profiling Classifier for Central Nervous System Tumors	13
Recommendations for the Use of in Silico Approaches for Next-Generation Sequencing Bioinformatic Pipeline Validation	13
LYmphoid NeXt-Generation Sequencing (LYNX) Panel	13
Electronic Health Records and Genomics	13
Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing	13
Clinical Validation of a Sensitive Test for Saliva Collected in Healthcare and Community Settings with Pooling Utility for Severe Acute Respiratory Syndrome Coronavirus 2 Mass Surveillance	13
Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome	13
Transcriptome Analysis Identifies GATA3-AS1 as a Long Noncoding RNA Associated with Resistance to Neoadjuvant Chemotherapy in Locally Advanced Breast Cancer Patients	13
A Rapid and Cost-Effective Gene Expression Assay for the Diagnosis of Well-Differentiated and Dedifferentiated Liposarcomas	13
Comparison of RNA-Based Next-Generation Sequencing Assays for the Detection of NTRK Gene Fusions	13
Identification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization	12
Development of Cooperative Primer-Based Real-Time PCR Assays for the Detection of Plasmodium malariae and Plasmodium ovale	12
Clinical Review of Noninvasive Prenatal Testing	12
Nanopore Flongle Sequencing as a Rapid, Single-Specimen Clinical Test for Fusion Detection	12
Clinical Utility of Targeted Next-Generation Sequencing Assay to Detect Copy Number Variants Associated with Myelodysplastic Syndrome in Myeloid Malignancies	12
A Clinical and Integrated Genetic Study of Isolated and Combined Dystonia in Taiwan	12
Parallel Validation of the NG-Test Carba 5 and the Xpert Carba-R for Detection and Characterization of Carbapenem-Resistant Enterobacterales Causing Bloodstream Infections	12
Evaluation of a Next-Generation Sequencing Metagenomics Assay to Detect and Quantify DNA Viruses in Plasma from Transplant Recipients	12
An Integrative DNA Sequencing and Methylation Panel to Assess Mismatch Repair Deficiency	12
Spatial Distribution Patterns of Clinically Relevant TERT Promoter Mutations in Follicular Thyroid Tumors of Uncertain Malignant Potential	12
Assessment of a Multiplex PCR for the Simultaneous Diagnosis of Intestinal Cryptosporidiosis and Microsporidiosis	12
Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer–Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis	12
Double Drop-Off Droplet Digital PCR	12
Development and Validation of StrataNGS, a Multiplex PCR, Semiconductor Sequencing-Based Comprehensive Genomic Profiling Test	12
Assessments of Somatic Variant Classification Using the Association for Molecular Pathology/American Society of Clinical Oncology/College of American Pathologists Guidelines	11
VarBen	11
miRNAs as Molecular Biomarkers for Prostate Cancer	11
Validation, Implementation, and Clinical Impact of the Oncomine Myeloid Targeted-Amplicon DNA and RNA Ion Semiconductor Sequencing Assay	11
Sample-to-Answer and Routine Real-Time RT-PCR	11
A Magnetic Modulation Biosensing-Based Molecular Assay for Rapid and Highly Sensitive Clinical Diagnosis of Coronavirus Disease 2019 (COVID-19)	11
Characterizing the Impact of Primer-Template Mismatches on Recombinase Polymerase Amplification	11
SARS-CoV-2 RT-qPCR Test Detection Rates Are Associated with Patient Age, Sex, and Time since Diagnosis	11
Comparison of Two Commercial Platforms and a Laboratory-Developed Test for Detection of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) RNA	11
NTRK Gene Fusion Detection in a Pan-Cancer Setting Using the Idylla GeneFusion Assay	11
Clinically Responsive Genomic Analysis Pipelines	10
Use of Metagenomic Next-Generation Sequencing in the Clinical Microbiology Laboratory	10
Analytical Validation of SKY92 for the Identification of High-Risk Multiple Myeloma	10
Hearing Impairment with Monoallelic GJB2 Variants	10
Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX	10
Containers in Bioinformatics	10
Ig Gene Clonality Analysis Using Next-Generation Sequencing for Improved Minimal Residual Disease Detection with Significant Prognostic Value in Multiple Myeloma Patients	10
Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing	10
Multicenter Evaluation of Xpert Carba-R Assay for Detection and Identification of the Carbapenemase Genes in Rectal Swabs and Clinical Isolates	9
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	9
Next-Generation Sequencing Concordance Analysis of Comprehensive Solid Tumor Profiling between a Centralized Specialty Laboratory and the Decentralized Personal Genome Diagnostics elio Tissue Complete	9
Translational Diagnostics	9
Validation of a Next-Generation Sequencing–Based T-Cell Receptor Gamma Gene Rearrangement Diagnostic Assay	9
Improving Genetic Testing in Hereditary Cancer by RNA Analysis	9
Next-Generation Sequencing Panel for 1p/19q Codeletion and IDH1-IDH2 Mutational Analysis Uncovers Mistaken Overdiagnoses of 1p/19q Codeletion by FISH	9
DNA Methylation Profiling Discriminates between Malignant Pleural Mesothelioma and Neoplastic or Reactive Histologic Mimics	9
Utility of Epstein-Barr Viral Load in Blood for Diagnosing and Predicting Prognosis of Lymphoma	9
Clinical Performance Characteristics of the Swift Normalase Amplicon Panel for Sensitive Recovery of Severe Acute Respiratory Syndrome Coronavirus 2 Genomes	9
Optimization of Sources of Circulating Cell-Free DNA Variability for Downstream Molecular Analysis	9
A Real-Time Quantitative PCR Targeting the Viral Vector for the Monitoring of Patients Treated with Axicabtagene Ciloleucel	9
Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas Advancement in Molecular Diagnostics and Signal Readout Approaches	9
Commercially Available Blocking Oligonucleotides Effectively Suppress Unwanted Hemolysis-Related miRNAs in a Large Whole-Blood RNA Cohort	9
Small RNA-Sequencing for Analysis of Circulating miRNAs	9
Comparison of Seven Commercial Severe Acute Respiratory Syndrome Coronavirus 2 Nucleic Acid Detection Reagents with Pseudovirus as Quality Control Material	9
Accurate Detection and Quantification of FLT3 Internal Tandem Duplications in Clinical Hybrid Capture Next-Generation Sequencing Data	9
Analytical Validation of a Computational Method for Pharmacogenetic Genotyping from Clinical Whole Exome Sequencing	8
Characterization of Reference Materials for CYP3A4 and CYP3A5	8
Performance Assessment of the Devyser High-Throughput Sequencing–Based Assay for Chimerism Monitoring in Patients after Allogeneic Hematopoietic Stem Cell Transplantation	8
Bacterial Whole Genome Sequencing on the Illumina iSeq 100 for Clinical and Public Health Laboratories	8
A Micro-Costing Framework for Circulating Tumor DNA Testing in Dutch Clinical Practice	8
SnackVar	8
A Novel Approach to Detect IDH Point Mutations in Gliomas Using Nanopore Sequencing	8
A Comparison of Seegene Technologies Novaplex SARS-CoV-2 Variants I, II, and IV Assays with Spike Gene Sequencing for Detection of Known Severe Acute Respiratory Syndrome Coronavirus 2 Variants	8
Optimizing Insertion and Deletion Detection Using Next-Generation Sequencing in the Clinical Laboratory	8
Analytical Validation and Performance Characteristics of Molecular Serum Biomarkers, miR-371a-3p and miR-372-3p, for Male Germ Cell Tumors, in a Clinical Laboratory Setting	8
A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield	7
PCR-Free Shallow Whole Genome Sequencing for Chromosomal Copy Number Detection from Plasma of Cancer Patients Is an Efficient Alternative to the Conventional PCR-Based Approach	7
Comparison of the Diagnostic Performance of MeltPro and Next-Generation Sequencing in Determining Fluoroquinolone Resistance in Multidrug-Resistant Tuberculosis Isolates	7
Automated Pharmacogenomic Reports for Clinical Genome Sequencing	7
Development and Validation of an RNA Sequencing Assay for Gene Fusion Detection in Formalin-Fixed, Paraffin-Embedded Tumors	7
Modifying a Diagnostic SARS-CoV-2 Spike PCR to Turn a Del69/70 Dropout into a Discriminatory On-Target Assay	7
MOL-PCR and xMAP Technology	7
Toward the Establishment of a Single Standard Curve for Quantification of Trypanosoma cruzi Natural Populations Using a Synthetic Satellite Unit DNA Sequence	7
Comparative Transcriptomic Analysis of Staphylococcus aureus Associated with Periprosthetic Joint Infection under in Vivo and in Vitro Conditions	7

Assessment of BCOR Internal Tandem Duplications in Pediatric Cancers by Targeted RNA Sequencing	7
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases	7
Diagnostics in the Time of Coronavirus Disease 2019 (COVID-19)	7
Multiple Immunoglobulin κ Gene Rearrangements within a Single Clone Unraveled by Next-Generation Sequencing–Based Clonality Assessment	7
Digital Droplet PCR Is a Reliable Tool to Improve Minimal Residual Disease Stratification in Adult Philadelphia-Negative Acute Lymphoblastic Leukemia	7
Assessing Limit of Detection in Clinical Sequencing	7
Molecular Pathology Education: A Suggested Framework for Primary Care Resident Training in Genomic Medicine	7
Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency	7
Relative Sensitivity of Saliva and Upper Airway Swabs for Initial Detection of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) in Ambulatory Patients	7
Development and Performance of a CD8 Gene Signature for Characterizing Inflammation in the Tumor Microenvironment across Multiple Tumor Types	7
Feasibility, Ease-of-Use, and Operational Characteristics of World Health Organization–Recommended Moderate-Complexity Automated Nucleic Acid Amplification Tests for the Detection of Tuberculosis and	7
Identification of Chromosomal Abnormalities in Early Pregnancy Loss Using a High-Throughput Ligation-Dependent Probe Amplification–Based Assay	7