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
Comparison of 12 Molecular Detection Assays for Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2)	27
Salivary High-Risk Human Papillomavirus (HPV) DNA as a Biomarker for HPV-Driven Head and Neck Cancers	27
Next-Generation Sequencing–Based Clonality Assessment of Ig Gene Rearrangements	26
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
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

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
Clinical Experience of Cerebrospinal Fluid–Based Liquid Biopsy Demonstrates Superiority of Cell-Free DNA over Cell Pellet Genomic DNA for Molecular Profiling	23
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
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
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
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
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
Performance Characteristics of Severe Acute Respiratory Syndrome Coronavirus 2 RT-PCR Tests in a Single Health System	18
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
Next-Generation Sequencing Is More Efficient at Detecting Mosaic Embryos and Improving Pregnancy Outcomes than Single-Nucleotide Polymorphism Array Analysis	17
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
Validation Study of a Direct Real-Time PCR Protocol for Detection of Monkeypox Virus	16
Highly Sensitive Detection Method of Retinoblastoma Genetic Predisposition and Biomarkers	16
Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing	16
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
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
Targeted Genotyping in Clinical Pharmacogenomics	14
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
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
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
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
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
An Integrative DNA Sequencing and Methylation Panel to Assess Mismatch Repair Deficiency	12
Double Drop-Off Droplet Digital PCR	12
Development and Validation of StrataNGS, a Multiplex PCR, Semiconductor Sequencing-Based Comprehensive Genomic Profiling Test	12
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
Assessments of Somatic Variant Classification Using the Association for Molecular Pathology/American Society of Clinical Oncology/College of American Pathologists Guidelines	11
VarBen	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
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
Analytical Validation of a Computational Method for Pharmacogenetic Genotyping from Clinical Whole Exome Sequencing	8
Characterization of Reference Materials for CYP3A4 and CYP3A5	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
Comparison of Two Quantitative PCR–Based Assays for Detection of Minimal Residual Disease in B-Precursor Acute Lymphoblastic Leukemia Harboring Three Major Fusion Transcripts	6
Staining Performance of ALK and ROS1 Immunohistochemistry and Influence on Interpretation in Non–Small-Cell Lung Cancer	6
Multiplex Digital PCR Assay to Detect Multiple KRAS and GNAS Mutations Associated with Pancreatic Carcinogenesis from Minimal Specimen Amounts	6
Modified Taq DNA Polymerase for Allele-Specific Ultra-Sensitive Detection of Genetic Variants	6
Validation and Characterization of FGFR2 Rearrangements in Cholangiocarcinoma with Comprehensive Genomic Profiling	6
NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing	6
Clinical Implications of a Targeted RNA-Sequencing Panel in the Detection of Gene Fusions in Solid Tumors	6
Fast and Sensitive Multiplex Real-Time Quantitative PCR to Detect Cutibacterium Periprosthetic Joint Infections	6
Extraction-Free Rapid Cycle Quantitative RT-PCR and Extreme RT-PCR for SARS-CoV-2 Virus Detection	6
Molecular Diagnostic Outcomes from 700 Cases	6
Evaluating Multiple Next-Generation Sequencing–Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status	6
Driver Mutation Variant Allele Frequency in Circulating Tumor DNA and Association with Clinical Outcome in Patients with Non–Small Cell Lung Cancer and EGFR- and KRAS-Mutated Tumors	6
ERBB2 (HER2) Alterations in Colorectal Cancer	6
Real-Time, Multiplexed SHERLOCK for in Vitro Diagnostics	6
Classification and Regression Trees for Bacterial Vaginosis Diagnosis in Pregnant Women Based on High-Throughput Quantitative PCR	6
Mitochondrial DNA Copy Number in Human Blastocyst	6
Circulating Plasma Tumor DNA Is Superior to Plasma Tumor RNA Detection in Ewing Sarcoma Patients	6
MET Exon 14 Skipping Mutations	6
Diagnostic Capacities for Multidrug-Resistant Tuberculosis in the World Health Organization European Region	6
Evaluating Diagnostic Accuracy of Saliva Sampling Methods for Severe Acute Respiratory Syndrome Coronavirus 2 Reveals Differential Sensitivity and Association with Viral Load	6
Rapid Tuberculosis Diagnostics Including Molecular First- and Second-Line Resistance Testing Based on a Novel Microfluidic DNA Extraction Cartridge	6
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)	6
Validation of a PCR-Based Next-Generation Sequencing Approach for the Detection and Quantification of Minimal Residual Disease in Acute Lymphoblastic Leukemia and Multiple Myeloma Using gBlocks as Cal	5
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease	5
Innovative Tumor Tissue Dissection Tool for Molecular Oncology Diagnostics	5
Contrived Materials and a Data Set for the Evaluation of Liquid Biopsy Tests	5
Clinical Validation of Companion Diagnostics for the Selection of Patients with Non–Small Cell Lung Cancer Tumors Harboring Epidermal Growth Factor Receptor Exon 20 Insertion Mutations for Treatment w	5
A Validation Framework for Somatic Copy Number Detection in Targeted Sequencing Panels	5
A New View on Minimal Residual Disease Quantification in Acute Lymphoblastic Leukemia using Droplet Digital PCR	5
Somatic Genomic and Transcriptomic Characterization of Primary Ovarian Serous Borderline Tumors and Low-Grade Serous Carcinomas	5
CANTRK	5
Accuracy of Xpert Carba-R Assay for the Diagnosis of Carbapenemase-Producing Organisms from Rectal Swabs and Clinical Isolates	5
Detection of Cervical Lesions and Cancer in Air-Dried Cytologic Smears by Combined Analysis of mRNA and miRNA Expression Levels	5
A Curriculum for Genomic Education of Molecular Genetic Pathology Fellows	5
Coronavirus Disease 2019 Diagnosis in Low- and Middle-Income Countries	5
CRISPR-Cas9 Targeted Enrichment and Next-Generation Sequencing for Mutation Detection	5
Improved Characterization of Complex β-Globin Gene Cluster Structural Variants Using Long-Read Sequencing	5
Rapid Molecular Screen of Spinocerebellar Ataxia Types 1, 2, and 3 by Triplet-Primed PCR and Melting Curve Analysis	5
Circulating Tumor DNA	5
Efficient Detection of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) from Exhaled Breath	5
Clinical Accuracy of Alinity m HR HPV Assay on Self- versus Clinician-Taken Samples Using the VALHUDES Protocol	5
Practical Considerations for Using RNA Sequencing in Management of B-Lymphoblastic Leukemia	5
Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing	5
Quantitative PCR–Based Method to Assess Cell-Free DNA Quality, Adjust Input Mass, and Improve Next-Generation Sequencing Assay Performance	5
Recommendations for Next-Generation Sequencing Germline Variant Confirmation	5
RNA Sequencing Identifies Novel NRG1 Fusions in Solid Tumors that Lack Co-Occurring Oncogenic Drivers	5
An Educational Assessment of Evidence Used for Variant Classification	5
Comparing the Diagnostic Performance of Quantitative PCR, Digital Droplet PCR, and Next-Generation Sequencing Liquid Biopsies for Human Papillomavirus–Associated Cancers	5
A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI	4
Molecular Skin Cancer Diagnosis	4
Two-Stage Hierarchical Group Testing Strategy to Increase SARS-CoV-2 Testing Capacity at an Institution of Higher Education	4
Rapid Implementation of Severe Acute Respiratory Syndrome Coronavirus 2 Emergency Use Authorization RT-PCR Testing and Experience at an Academic Medical Institution	4
The Application of Targeted RNA Sequencing for KMT2A–Partial Tandem Duplication Identification and Integrated Analysis of Molecular Characterization in Acute Myeloid Leukemia	4
A Nonadaptive Combinatorial Group Testing Strategy to Facilitate Health Care Worker Screening during the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Outbreak	4
Validation of a Targeted Next-Generation Sequencing Panel for Tumor Mutation Burden Analysis	4
Temporary Regulatory Deviations and the Coronavirus Disease 2019 (COVID-19) PCR Labeling Update Study Indicate What Laboratory-Developed Test Regulation by the US Food and Drug Administration (FDA) Co	4
Exploring the Utility of Multiplex Infectious Disease Panel Testing for Diagnosis of Infection in Different Body Sites	4
The Comprehensive Comparison of Bacterial Artificial Chromosomes (BACs)–on-Beads Assay and Copy Number Variation Sequencing in Prenatal Diagnosis of Southern Chinese Women	4
Intronic Breakpoint Signatures Enhance Detection and Characterization of Clinically Relevant Germline Structural Variants	4
Extraction of Cell-Free DNA	4
Rapid and Automated Semiconductor-Based Next-Generation Sequencing for Simultaneous Detection of Somatic DNA and RNA Aberrations in Myeloid Neoplasms	4
Evaluation of Sensitive Urine DNA-Based PENK Methylation Test for Detecting Bladder Cancer in Patients with Hematuria	4
Fragment Size-Based Enrichment of Viral Sequences in Plasma Cell-Free DNA	4
Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing	4
Enhancing Trypanosomatid Identification and Genotyping with Oxford Nanopore Sequencing	4
Frequent Suboptimal Thermocycler Ramp Rate Usage Negatively Impacts GenoType MTBDRsl VER 2.0 Performance for Second-Line Drug-Resistant Tuberculosis Diagnosis	4
Third-Generation Cytogenetic Analysis	4
The Prognostic Value of an RT-PCR Test for Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Is Contingent on Timing across Disease Time Course in addition to Assay Sensitivity	4
Cost-Effective and Scalable Clonal Hematopoiesis Assay Provides Insight into Clonal Dynamics	4
Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls	4
Cancer Whole-Genome Sequencing	4
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors	4
A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute	4
Comparison of the Clinical Accuracy of Xpert HPV Assay on Vaginal Self-Samples and Cervical Clinician-Taken Samples within the VALHUDES Framework	4
Droplet Digital PCR Development for Adenovirus Load Monitoring in Children after Hematopoietic Stem Cell Transplantation	4
Assessment of MYC/PTEN Status by Gene-Protein Assay in Grade Group 2 Prostate Biopsies	4
Concordance Analysis of ALK Gene Fusion Detection Methods in Patients with Non–Small-Cell Lung Cancer from Chile, Brazil, and Peru	3
Overcoming the Pitfalls of Next-Generation Sequencing–Based Molecular Diagnosis of Shwachman-Diamond Syndrome	3
Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment	3
Molecular and Cytogenetic Features of NTRK Fusions Enriched in BRAF and RET Double-Negative Papillary Thyroid Cancer	3
Measurable Residual Disease Monitoring of SPAG6, ST18, PRAME, and XAGE1A Expression in Peripheral Blood May Detect Imminent Relapse in Childhood Acute Myeloid Leukemia	3
DNA Methylation-Based Classification of Small B-Cell Lymphomas	3
Ultrasensitive Quantitation of Genomic Chimerism by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing of Copy Number Deletion Polymorphisms	3