Journal of Molecular Diagnostics

Article	Citations
Development of Reverse Transcription Loop-Mediated Isothermal Amplification Assays Targeting Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2)	319
Recommendations for Clinical CYP2D6 Genotyping Allele Selection	72
Performance of Severe Acute Respiratory Syndrome Coronavirus 2 Real-Time RT-PCR Tests on Oral Rinses and Saliva Samples	54
A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)	52
Identification of Three Circular RNA Cargoes in Serum Exosomes as Diagnostic Biomarkers of Non–Small-Cell Lung Cancer in the Chinese Population	50
Assessment of Pre-Analytical Sample Handling Conditions for Comprehensive Liquid Biopsy Analysis	47
Clinical Validation of Whole Genome Sequencing for Cancer Diagnostics	46
Long-Molecule Sequencing	46
Detection of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Is Comparable in Clinical Samples Preserved in Saline or Viral Transport Medium	43
Evaluation of a Hybrid Capture–Based Pan-Cancer Panel for Analysis of Treatment Stratifying Oncogenic Aberrations and Processes	43
Clinical Impact of Metagenomic Next-Generation Sequencing of Bronchoalveolar Lavage in the Diagnosis and Management of Pneumonia	42
Next-Generation Sequencing in High-Sensitive Detection of Mutations in Tumors	42
KRAS G12C–Mutant Non–Small Cell Lung Cancer	40
Recommendations for Clinical Warfarin Genotyping Allele Selection	39
Low-Pass Genome Sequencing	34
Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy	33
Multiplex PCR Assays for Identifying all Major Severe Acute Respiratory Syndrome Coronavirus 2 Variants	33
Dynamics of Blood Viral Load Is Strongly Associated with Clinical Outcomes in Coronavirus Disease 2019 (COVID-19) Patients	33
Detection of Microsatellite Instability from Circulating Tumor DNA by Targeted Deep Sequencing	32
Development of a New Multiplex Real-Time RT-PCR Assay for Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Detection	30
Detection and Quantification of Chimeric Antigen Receptor Transgene Copy Number by Droplet Digital PCR versus Real-Time PCR	29
Plasma Cell-Free Human Papillomavirus Oncogene E6 and E7 DNA Predicts Outcome in Oropharyngeal Squamous Cell Carcinoma	29
An Isothermal Method for Sensitive Detection of Mycobacterium tuberculosis Complex Using Clustered Regularly Interspaced Short Palindromic Repeats/Cas12a Cis and Trans Cleavage	28
Ct Values Do Not Predict Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Transmissibility in College Students	26
Comparison of 12 Molecular Detection Assays for Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2)	26

Next-Generation Sequencing–Based Clonality Assessment of Ig Gene Rearrangements	25
Proposal of RT-PCR–Based Mass Population Screening for Severe Acute Respiratory Syndrome Coronavirus 2 (Coronavirus Disease 2019)	25
Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies	25
Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms	24
Evaluation of the TruSight Oncology 500 Assay for Routine Clinical Testing of Tumor Mutational Burden and Clinical Utility for Predicting Response to Pembrolizumab	24
Evaluation of a New Histoplasma spp. Quantitative RT-PCR Assay	24
Salivary High-Risk Human Papillomavirus (HPV) DNA as a Biomarker for HPV-Driven Head and Neck Cancers	24
Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in 13,069 Chinese Pregnant Women	23
External Quality Assessment for Molecular Detection of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) in Clinical Laboratories	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
Targeted Next-Generation Sequencing and Allele-Specific Quantitative PCR of Laser Capture Microdissected Samples Uncover Molecular Differences in Mixed Odontogenic Tumors	23
CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis	22
TPMT and NUDT15 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, Clinical Pharmacogenetics Implementation Consortium, College of American Pathol	21
Amplicon-Based Next-Generation Sequencing for Detection of Fungi in Formalin-Fixed, Paraffin-Embedded Tissues	21
Loop-Primer Endonuclease Cleavage–Loop-Mediated Isothermal Amplification Technology for Multiplex Pathogen Detection and Single-Nucleotide Polymorphism Identification	21
Mass Spectrometry–Based Method Targeting Ig Variable Regions for Assessment of Minimal Residual Disease in Multiple Myeloma	21
Current and New Next-Generation Sequencing Approaches to Study Mitochondrial DNA	21
Genomic Analysis of Circulating Tumor Cells at the Single-Cell Level	20
A Pan-Cancer Study of Somatic TERT Promoter Mutations and Amplification in 30,773 Tumors Profiled by Clinical Genomic Sequencing	20
Targeted Informatics for Optimal Detection, Characterization, and Quantification of FLT3 Internal Tandem Duplications Across Multiple Next-Generation Sequencing Platforms	20
Detection of Gene Fusion Transcripts in Peripheral T-Cell Lymphoma Using a Multiplexed Targeted Sequencing Assay	20
Routine Evaluation of Minimal Residual Disease in Myeloma Using Next-Generation Sequencing Clonality Testing	19
Comparison of Pathogenicity Prediction Tools on Somatic Variants	19
Prolonged Unfrozen Storage and Repeated Freeze-Thawing of SARS-CoV-2 Patient Samples Have Minor Effects on SARS-CoV-2 Detectability by RT-PCR	19
Discordance between Immunohistochemistry and Erb-B2 Receptor Tyrosine Kinase 2 mRNA to Determine Human Epidermal Growth Factor Receptor 2 Low Status for Breast Cancer	19
Rapid EGFR Mutation Detection Using the Idylla Platform	19
A Novel Next-Generation Sequencing–Based Approach for Concurrent Detection of Mitochondrial DNA Copy Number and Mutation	19
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	19
Design of a Comprehensive Fluorescence in Situ Hybridization Assay for Genetic Classification of T-Cell Acute Lymphoblastic Leukemia	18
Multiplex High-Resolution Melting Assay for Simultaneous Identification of Molecular Markers Associated with Extended-Spectrum Cephalosporins and Azithromycin Resistance in Neisseria gonorrhoeae	18
Diagnostic Strategies toward Clinical Implementation of Liquid Biopsy RAS/BRAF Circulating Tumor DNA Analyses in Patients with Metastatic Colorectal Cancer	18
Comprehensive Analysis of Spinal Muscular Atrophy	18
Prognostic and Predictive Molecular Biomarkers in Chronic Lymphocytic Leukemia	18
Performance Characteristics of Severe Acute Respiratory Syndrome Coronavirus 2 RT-PCR Tests in a Single Health System	18
SARS-CoV-2 RNA Quantification Using Droplet Digital RT-PCR	17
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	17
Validation, Implementation, and Clinical Utility of Whole Genome Sequence-Based Bacterial Identification in the Clinical Microbiology Laboratory	17
A One-Pot CRISPR/Cas9-Typing PCR for DNA Detection and Genotyping	17
Clinical Experience of Cerebrospinal Fluid–Based Liquid Biopsy Demonstrates Superiority of Cell-Free DNA over Cell Pellet Genomic DNA for Molecular Profiling	17
Survival Motor Neuron Gene Copy Number Analysis by Exome Sequencing	17
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	16
Enzymatic and Chemical-Based Methods to Inactivate Endogenous Blood Ribonucleases for Nucleic Acid Diagnostics	16
RNA-Seq Reveals Differences in Expressed Tumor Mutation Burden in Colorectal and Endometrial Cancers with and without Defective DNA-Mismatch Repair	16
Electric Field–Induced Release and Measurement (EFIRM)	16
Clinical Service Delivery of Noninvasive Prenatal Diagnosis by Relative Haplotype Dosage for Single-Gene Disorders	16
Development and Clinical Validation of Discriminatory Multitarget Digital Droplet PCR Assays for the Detection of Hot Spot KRAS and NRAS Mutations in Cell-Free DNA	16
Germline Mutation in 1338 BRCA-Negative Chinese Hereditary Breast and/or Ovarian Cancer Patients	16
Molecular Pathology Economics 101: An Overview of Molecular Diagnostics Coding, Coverage, and Reimbursement	15
Identification of Tissue of Origin and Guided Therapeutic Applications in Cancers of Unknown Primary Using Deep Learning and RNA Sequencing (TransCUPtomics)	15
Next-Generation Sequencing–Based Diagnosis of Unexplained Inherited Hemolytic Anemias Reveals Wide Genetic and Phenotypic Heterogeneity	15

Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders	15
Optimization and Validation of Multimodular, Long-Range PCR–Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex	15
Polymer-Based Precipitation of Extracellular Vesicular miRNAs from Serum Improve Gastric Cancer miRNA Biomarker Performance	15
Long-Read Nanopore Sequencing Validated for Human Leukocyte Antigen Class I Typing in Routine Diagnostics	15
Therapy Monitoring of EGFR-Positive Non–Small-Cell Lung Cancer Patients Using ddPCR Multiplex Assays	15
Sputum Cell-Free DNA	15
Validation Study of a Direct Real-Time PCR Protocol for Detection of Monkeypox Virus	14
Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases	14
Next-Generation Sequencing Is More Efficient at Detecting Mosaic Embryos and Improving Pregnancy Outcomes than Single-Nucleotide Polymorphism Array Analysis	14
Homologous Recombination Deficiency as an Ovarian Cancer Biomarker in a Real-World Cohort	14
Molecular Testing in Breast Cancer	13
Highly Sensitive Detection Method of Retinoblastoma Genetic Predisposition and Biomarkers	13
Treatment Response Monitoring in Patients with Advanced Malignancies Using Cell-Free SHOX2 and SEPT9 DNA Methylation in Blood	13
Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence	13
Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing	13
Evaluating Targeted Next-Generation Sequencing Assays and Reference Materials for NTRK Fusion Detection	13
Identification and Validation of Noncanonical RET Fusions in Non–Small-Cell Lung Cancer through DNA and RNA Sequencing	13
Development and Clinical Validation of a 90-Gene Expression Assay for Identifying Tumor Tissue Origin	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
The Lund Molecular Taxonomy Applied to Non–Muscle-Invasive Urothelial Carcinoma	13
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	13
Comparison of RNA-Based Next-Generation Sequencing Assays for the Detection of NTRK Gene Fusions	13
Multicenter Evaluation of the Idylla GeneFusion in Non–Small-Cell Lung Cancer	13
The Value of Parental Testing by Next-Generation Sequencing Includes the Detection of Germline Mosaicism	12
Design and Reporting Considerations for Genetic Screening Tests	12
Diagnostic Utility of Gene Fusion Panel to Detect Gene Fusions in Fresh and Formalin-Fixed, Paraffin-Embedded Cancer Specimens	12
Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmona	12
Real-World Utilization of Biomarker Testing for Patients with Advanced Non–Small Cell Lung Cancer in a Tertiary Referral Center and Referring Hospitals	12
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity	12
Upgraded Standardized Minimal Residual Disease Detection by Next-Generation Sequencing in Multiple Myeloma	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
Immune Profiling of Deficient Mismatch Repair Colorectal Cancer Tumor Microenvironment Reveals Different Levels of Immune System Activation	12
Noninvasive Detection of Hepatocellular Carcinoma with Circulating Tumor DNA Features and α-Fetoprotein	12
Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome	12
Targeted Genotyping in Clinical Pharmacogenomics	12
Minimal Residual Disease Monitoring Using a 3′ALK Universal Probe Assay in ALK-Positive Anaplastic Large-Cell Lymphoma	12
Nanopore Flongle Sequencing as a Rapid, Single-Specimen Clinical Test for Fusion Detection	12
SARS-CoV-2 RT-qPCR Test Detection Rates Are Associated with Patient Age, Sex, and Time since Diagnosis	11
Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer–Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis	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
Implementation of an Emergency Use Authorization Test During an Impending National Crisis	11
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	11
CYP3A4 and CYP3A5 Genotyping Recommendations	11
Transcriptome Analysis Identifies GATA3-AS1 as a Long Noncoding RNA Associated with Resistance to Neoadjuvant Chemotherapy in Locally Advanced Breast Cancer Patients	11
Clinical Utility of Targeted Next-Generation Sequencing Assay to Detect Copy Number Variants Associated with Myelodysplastic Syndrome in Myeloid Malignancies	11
A Clinical and Integrated Genetic Study of Isolated and Combined Dystonia in Taiwan	11
Microchip RT-PCR Detection of Nasopharyngeal SARS-CoV-2 Samples	11
Double Drop-Off Droplet Digital PCR	11
Comparative Evaluation of Five Assays for Detection of Carbapenemases with a Proposed Scheme for Their Precise Application	11
Who to Test, When, and for What	11
Comparison of Illumina and Oxford Nanopore Sequencing Technologies for Pathogen Detection from Clinical Matrices Using Molecular Inversion Probes	11
Assessment of a Multiplex PCR for the Simultaneous Diagnosis of Intestinal Cryptosporidiosis and Microsporidiosis	11
Development of Cooperative Primer-Based Real-Time PCR Assays for the Detection of Plasmodium malariae and Plasmodium ovale	11
Clinical Review of Noninvasive Prenatal Testing	11
Defining Novel DNA Virus-Tumor Associations and Genomic Correlates Using Prospective Clinical Tumor/Normal Matched Sequencing Data	11
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	11
Expression of GNAS, TP53, and PTEN Improves the Patient Prognostication in Sonic Hedgehog (SHH) Medulloblastoma Subgroup	11
Specific gyrA Gene Mutations Correlate with High Prevalence of Discordant Levofloxacin Resistance in Mycobacterium tuberculosis Isolates from Beijing, China	11
Clinical Whole Genome Sequencing for Clarithromycin and Amikacin Resistance Prediction and Subspecies Identification of Mycobacterium abscessus	11
NTRK Gene Fusion Detection in a Pan-Cancer Setting Using the Idylla GeneFusion Assay	10
Clinically Responsive Genomic Analysis Pipelines	10
VarBen	10
Analysis of Driver Mutational Hot Spots in Blood-Derived Cell-Free DNA of Patients with Primary Central Nervous System Lymphoma Obtained before Intracerebral Biopsy	10
Detection of Circulating Tumor DNA in Patients with Pancreatic Cancer Using Digital Next-Generation Sequencing	10
Identification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization	10
Evaluation of a Next-Generation Sequencing Metagenomics Assay to Detect and Quantify DNA Viruses in Plasma from Transplant Recipients	10
Development and Validation of StrataNGS, a Multiplex PCR, Semiconductor Sequencing-Based Comprehensive Genomic Profiling Test	10
Laboratories and Pandemic Preparedness	10
Validation of Long Mononucleotide Repeat Markers for Detection of Microsatellite Instability	10
Multiplexed Quantification of Four Neuroblastoma DNA Targets in a Single Droplet Digital PCR Reaction	10
LYmphoid NeXt-Generation Sequencing (LYNX) Panel	10
A Real-Time Quantitative PCR Targeting the Viral Vector for the Monitoring of Patients Treated with Axicabtagene Ciloleucel	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
Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations	9
Responding to the Challenges of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2)	9
Use of Metagenomic Next-Generation Sequencing in the Clinical Microbiology Laboratory	9
Comparison of GeneChip, nCounter, and Real-Time PCR–Based Gene Expressions Predicting Locoregional Tumor Control after Primary and Postoperative Radiochemotherapy in Head and Neck Squamous Cell Carcin	9
Evaluating the Clinical Performance of a Dual-Target Stool DNA Test for Colorectal Cancer Detection	9
A Rapid and Cost-Effective Gene Expression Assay for the Diagnosis of Well-Differentiated and Dedifferentiated Liposarcomas	9

Impact of Reducing DNA Input on Next-Generation Sequencing Library Complexity and Variant Detection	9
Recommendations for the Use of in Silico Approaches for Next-Generation Sequencing Bioinformatic Pipeline Validation	9
Hearing Impairment with Monoallelic GJB2 Variants	9
Translational Diagnostics	9
Improving Genetic Testing in Hereditary Cancer by RNA Analysis	9
Validation of Whole Genome Methylation Profiling Classifier for Central Nervous System Tumors	9
Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing	9
Sample-to-Answer and Routine Real-Time RT-PCR	9
Parallel Validation of the NG-Test Carba 5 and the Xpert Carba-R for Detection and Characterization of Carbapenem-Resistant Enterobacterales Causing Bloodstream Infections	9
Ig Gene Clonality Analysis Using Next-Generation Sequencing for Improved Minimal Residual Disease Detection with Significant Prognostic Value in Multiple Myeloma Patients	9
A Magnetic Modulation Biosensing-Based Molecular Assay for Rapid and Highly Sensitive Clinical Diagnosis of Coronavirus Disease 2019 (COVID-19)	9
Highly Sensitive and Specific Detection and Serotyping of Five Prevalent Salmonella Serovars by Multiple Cross-Displacement Amplification	9