Journal of Molecular Diagnostics

Papers
(The median citation count of Journal of Molecular Diagnostics is 1. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2022-01-01 to 2026-01-01.)
ArticleCitations
Instructions to Authors64
Validation of Human Papillomavirus Genotyping by Oxford Nanopore Sequencing in Formalin-Fixed, Paraffin-Embedded Tissues and ThinPrep Anal and Gynecologic Samples57
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY51
Table of Contents45
Editorial Board45
Editorial Board44
Correction41
Editorial Board41
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors38
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 Cycle36
The Molecular Genetic Pathology Fellowship Curriculum36
Evaluating Discordant Somatic Calls Across Mutation Discovery Approaches to Minimize False-Negative Drug-Resistant Findings35
Morphological Bone Score as a Predictive Tool for Molecular Profiling Success34
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia33
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors32
Evaluating the Clinical Performance of a Dual-Target Stool DNA Test for Colorectal Cancer Detection32
Neurotrophin Receptor Kinase32
miRNAs as Molecular Biomarkers for Prostate Cancer29
Next-Generation Sequencing–Based T-Cell Receptor Gene Rearrangement Analysis in Nodal T Follicular Helper Cell Lymphoma, a Comparison with the EuroClonality/BIOMED-2 Assay29
Considerations for Severe Acute Respiratory Syndrome Coronavirus 2 Genomic Surveillance29
A Systematic Method to Detect Next-Generation Sequencing–Based Microsatellite Instability in Plasma Cell-Free DNA28
Table of Contents26
A Novel and Comprehensive Whole-Genome Sequencing–Based Preimplantation Genetic Testing Approach for Different Genetic Conditions25
Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting25
Editorial Board24
Analysis of Clinical Laboratory Detecting Challenging Variants from Exome Sequencing Using Simulated Patient–Parent Trio Sample24
NTRK Gene Fusion Detection in a Pan-Cancer Setting Using the Idylla GeneFusion Assay24
The Isothermal Amplification AmpFire Assay for Human Papillomavirus (HPV) Detection and Genotyping in Formalin-Fixed, Paraffin-Embedded Oropharyngeal Cancer Samples24
Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls24
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 Diagnostic23
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions23
Purity Independent Subtyping of Tumors (PurIST) Pancreatic Cancer Classifier22
Evaluation of Sensitive Urine DNA-Based PENK Methylation Test for Detecting Bladder Cancer in Patients with Hematuria22
Twenty-Five Years of Germline Genetic Testing and What May Lie Ahead22
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease21
Analytical and Clinical Evaluation of the AltoStar Adenovirus PCR Kit 1.5 and the AltoStar Automation System AM16 for Adenovirus Detection in Plasma and Stool Samples20
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent20
Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data20
Clinical Accuracy of Alinity m HR HPV Assay on Self- versus Clinician-Taken Samples Using the VALHUDES Protocol20
Editorial Board19
Comparison of Targeted RNA-Sequencing Platforms for Oncogenic Fusion Detection in Non–Small-Cell Lung Cancer18
Comparison of Results from Two Commercially Available In-House Tissue-Based Comprehensive Genomic Profiling Solutions18
Detection of Biallelic Loss of DNA Repair Genes in Formalin-Fixed, Paraffin-Embedded Tumor Samples Using a Novel Tumor-Only Sequencing Panel18
Table of Contents18
Author Index17
Author Index16
Multicenter Evaluation of the Idylla GeneFusion in Non–Small-Cell Lung Cancer16
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex16
PirePred16
The Neoantigen Landscape of the Coding and Noncoding Cancer Genome Space16
Evaluation of Pre-Analytical Variables for Human Papillomavirus Primary Screening from Self-Collected Vaginal Swabs15
Molecular Diagnosis of Toxoplasmosis15
Sensitivity and Specificity of Chimerism Tests in Predicting Leukemia Relapse Using Increasing Mixed Chimerism15
New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing15
Screening G6PD Mutations in Blood Donors by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry with High-Throughput and Multiple Targets15
Table of Contents15
Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence15
FoundationOne CDx and FoundationOne Heme Detect Epstein-Barr Virus with High Sensitivity and Specificity14
A Mass Spectrometry–Based Multiplexed Targeted Assay for Detection of Hemoglobinopathies from Dried Blood Spots14
Optimizing Insertion and Deletion Detection Using Next-Generation Sequencing in the Clinical Laboratory14
Utility of Epstein-Barr Viral Load in Blood for Diagnosing and Predicting Prognosis of Lymphoma14
Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms13
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders13
Instructions to Authors13
Minimal/Measurable Residual Disease Monitoring in Patients with Lymphoid Neoplasms by High-Throughput Sequencing of the T-Cell Receptor13
Scientific Integrity Policy13
miR-122 and miR-21 are Stable Components of miRNA Signatures of Early Lung Cancer after Validation in Three Independent Cohorts13
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-Free13
Validation of a New High-Throughput BD COR System Using the BD CTGCTV2 Assay13
Comparison of the Diagnostic Performance of MeltPro and Next-Generation Sequencing in Determining Fluoroquinolone Resistance in Multidrug-Resistant Tuberculosis Isolates13
Single-Tube, Switched Temperature Amplicon Barcoding for Multiplex Detection of Rare Mutations in Circulating Tumor DNA13
Scientific Integrity Policy13
Analytical Validation of an Automated Semiconductor-Based Next-Generation Sequencing Assay for Detection of DNA and RNA Alterations in Myeloid Neoplasms13
Diagnostic Capacities for Multidrug-Resistant Tuberculosis in the World Health Organization European Region12
Table of Contents12
Clinical Validation of a Noninvasive Multi-Omics Method for Multicancer Early Detection in Retrospective and Prospective Cohorts12
Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies12
Evaluation of Atypical Fluorescence in Situ Hybridization Findings by RNA Sequencing12
Economic Impact of Whole Genome Sequencing and Whole Transcriptome Sequencing Versus Routine Diagnostic Molecular Testing to Stratify Patients with B-Cell Acute Lymphoblastic Leukemia12
In Silico Approaches to Proficiency Testing11
Development of a Body of Knowledge for the Clinical Bioinformatician11
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 Setting11
The Clinical Validity of Urinary Pellet DNA Monitoring for the Diagnosis of Recurrent Bladder Cancer11
Development, Validation, and Implementation of an Augmented Multiwell, Multitarget Quantitative PCR for the Analysis of Human Papillomavirus Genotyping through Software Automation, Data Science, and A11
Author Index11
Elements in Maintaining a Driving Force11
Standardizing Laboratory Practices in Pharmacogenomics (STRIPE) Consensus Conference11
Mono- and Biallelic Replication–Coupled Gene Editing Discriminates Dominant-Negative and Loss-of-Function Variants of DNA Mismatch Repair Genes11
A Novel Approach to Detect IDH Point Mutations in Gliomas Using Nanopore Sequencing10
Editorial Board10
Table of Contents10
Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay10
Clinical Implementation of a High-Throughput Automated Comprehensive Genomic Profiling Test10
Table of Contents10
Reverse-Transcription Loop-Mediated Isothermal Amplification Has High Accuracy for Detecting Severe Acute Respiratory Syndrome Coronavirus 2 in Saliva and Nasopharyngeal/Oropharyngeal Swabs from Asymp10
Validation of Long Mononucleotide Repeat Markers for Detection of Microsatellite Instability10
Optical Genome Mapping for Comprehensive Cytogenetic Analysis of Soft-Tissue and Bone Tumors for Diagnostic Purposes9
Celebrating 30 Years at the Heart of Precision Medicine9
Table of Contents9
Table of Contents9
Evaluation of the Novaplex II HPV28 Detection Assay for HPV Typing in Formalin-Fixed, Paraffin-Embedded Tissues9
Table of Contents9
Toward Comprehensive Detection of the SMN1/2 Genotypes9
Instructions to Authors9
Reviewer Acknowledgment9
Editorial Board9
Equivalent Clinical Accuracy of Human Papillomavirus DNA Testing Using Cobas 4800 and 6800 Human Papillomavirus Systems in Paired Urine and Cervical Samples9
Analysis of Molecular Testing for Suspected Myeloproliferative Neoplasm at a Hybrid Community-Academic Health System9
Quality-Assured Analysis of PIK3CA Mutations in Hormone Receptor–Positive/Human Epidermal Growth Factor Receptor 2–Negative Breast Cancer Tissue9
Validation of the Labcorp Plasma Focus Test to Facilitate Precision Oncology Through Cell-Free DNA Genomic Profiling of Solid Tumors9
Table of Contents9
Quantitative Off-Target Detection of Epstein-Barr Virus–Derived DNA in Routine Molecular Profiling of Hematopoietic Neoplasms by Panel-Based Hybrid-Capture Next-Generation Sequencing9
Microcosting Study of Genomic Profiling for Precision Cancer Medicine8
Dideoxy Sequencing Enhances Detection of KIT Mutations in Gastrointestinal Stromal Tumors Initially Evaluated by Next-Generation Sequencing Hotspot Panels8
Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing8
Smart Nonuniformity for Calibrating Sequencing Depth of a Targeted Gene Panel to Simultaneously Detect Somatic and Germline Variants8
Surveillance of Disease Progression in Metastatic Breast Cancer by Molecular Counting of Circulating Tumor DNA Using Plasma-SeqSensei Breast Cancer in Vitro Diagnostics Assay8
Comparison of the Mutational Profile between BCL2- and BCL6-Rearrangement Positive Follicular Lymphoma8
CRISPR-Cas9 Targeted Enrichment and Next-Generation Sequencing for Mutation Detection8
Disclosure Statement8
Comparative Performance of a Targeted Next-Generation Sequencing Assay Against Multiplexed Digital PCR Assays in Detecting ERBB2, ESR1, and PIK3CA Mutations in Plasma Circulating Cell-Free DNA from Li8
Title Page8
RNA-Based Targeted Gene Sequencing Improves the Diagnostic Yield of Mutant Detection in Chronic Myeloid Leukemia8
Updates and Initiatives from The Journal of Molecular Diagnostics8
High Prevalence of Chromosomal Rearrangements and LINE Retrotranspositions Detected in Formalin-Fixed, Paraffin-Embedded Colorectal Cancer Tissue8
Developing Consensus for a More Provider-Friendly Next-Generation Sequencing Molecular Biomarker Report8
Leveraging Off-Target Reads in Panel Sequencing for Homologous Recombination Repair Deficiency Screening in Tumor8
Overcoming the Pitfalls of Next-Generation Sequencing–Based Molecular Diagnosis of Shwachman-Diamond Syndrome7
Editorial Board7
Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling7
Editorial Board7
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk7
Table of Contents7
Validation and Performance of Quantitative BRCA1 and RAD51C Promoter Hypermethylation Testing in Breast and Ovarian Cancers7
Table of Contents7
Informatics Powering Data to Shape the Future of Molecular Pathology7
Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms7
Ultrasensitive Quantitation of Genomic Chimerism by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing of Copy Number Deletion Polymorphisms7
Mutational Signatures in Cancer7
Investigating the Pathogenicity of Uncommon KRAS Mutations and Their Association with Clinicopathologic Characteristics in Patients with Colorectal Cancer7
Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment7
CYP3A4 and CYP3A5 Genotyping Recommendations6
Development of a Rapid and High-Throughput Multiplex Real-Time PCR Assay for Mycoplasma hominis and Ureaplasma Species6
Performance Characteristics of Next-Generation Sequencing–Based Engraftment Monitoring and Microchimerism Detection in Allogeneic Hematopoietic Cell Transplantation6
Circulating Tumor DNA6
The Era of Molecular Hematopathology6
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 Spots6
Correction6
Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing6
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 States6
Editorial Board6
Next-Generation Sequencing–Based Genomic Profiling of Children with Acute Myeloid Leukemia6
Ig Gene Clonality Analysis Using Next-Generation Sequencing for Improved Minimal Residual Disease Detection with Significant Prognostic Value in Multiple Myeloma Patients6
Evaluation of the TruSight Oncology 500 Assay for Routine Clinical Testing of Tumor Mutational Burden and Clinical Utility for Predicting Response to Pembrolizumab6
Leading in a Clinical Molecular Laboratory6
Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory6
Analytical Performance of the NCI-myeloMATCH Assay6
Abstracts of the AMP Europe 2024 Congress6
Clinical Bioinformatician Body of Knowledge—Clinical Laboratory Regulation and Data Security Core6
Disclosure Statement5
Production and Performance Assessment of a Severe Acute Respiratory Syndrome Coronavirus 2 Biomimetic in a Verification Program for Pandemic Readiness5
Homologous Recombination Deficiency as an Ovarian Cancer Biomarker in a Real-World Cohort5
The Correlation between Plasma Circulating Tumor DNA and Radiographic Tumor Burden5
Automated Pharmacogenomic Reports for Clinical Genome Sequencing5
CANTRK5
Validation of a High-Sensitivity Assay for Detection of Chimeric Antigen Receptor T-Cell Vectors Using Low-Partition Digital PCR Technology5
Cost-Effective Cas9-Mediated Targeted Sequencing of Spinocerebellar Ataxia Repeat Expansions5
Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing5
Corrections5
A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia5
Editorial Board5
Sequential Approach to Improve the Molecular Classification of Childhood Acute Lymphoblastic Leukemia5
Real-Time, Multiplexed SHERLOCK for in Vitro Diagnostics5
NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing5
Path to Health Equity and Improved Outcomes through Inclusive Sex and Gender Data Collection in Genomic Testing5
A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes4
A Cost-Effective and Labor-Saving Method for Detecting Human Leukocyte Antigen B27 Status via Sequence-Encoded Fluorescence Amplification Assay4
SARCP, a Clinical Next-Generation Sequencing Assay for the Detection of Gene Fusions in Sarcomas4
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases4
Recommendations for the Use of in Silico Approaches for Next-Generation Sequencing Bioinformatic Pipeline Validation4
Impact and Reproducibility of In-House Targeted Next-Generation Sequencing Biomarker Testing in Non–Small-Cell Lung Cancer4
Genotype and Phenotype Correlation of the TPMT∗8 Allele in Thiopurine Metabolism4
An Educational Assessment of Evidence Used for Variant Classification4
Comprehensive Analysis of Spinal Muscular Atrophy4
Editorial Board4
Authors' Reply4
A Novel Bead-Capture Nanopore Sequencing Method for Large Structural Rearrangement Detection in Cancer4
Evaluation of a Zoonotic Orthopoxvirus PCR Assay for the Detection of Mpox Virus Infection4
FindDNAFusion4
Table of Contents4
MET Exon 14 Skipping Mutations4
Characterization of Large Genomic Rearrangements in BRCA1 and BRCA2 Genes in a Chinese High-Risk Cohort4
EarlyTect BCD, a Streamlined PENK Methylation Test in Urine DNA, Effectively Detects Bladder Cancer in Patients with Hematuria4
Author Index4
Clinical Performance of Tissue- and Plasma-Based Diagnostic Assays in Identifying Homologous Recombination Repair Gene Alterations in Patients with Metastatic Castration-Resistant Prostate Cancer foll4
Highly Sensitive Detection Method of CXCR4 Tumor Hotspot Mutations by Drop-Off Droplet Digital PCR in Patients with IgM Monoclonal Gammopathies4
Table of Contents4
Accurate Quantification of T Cells in Copy Number Stable and Unstable DNA Samples Using Multiplex Digital PCR4
Detection of Constitutional Structural Variants by Optical Genome Mapping4
Universal Digital High-Resolution Melt Analysis for the Diagnosis of Bacteremia4
Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel4
Validation and Implementation of a Somatic-Only Tumor Exome for Routine Clinical Application4
From Expert Knowledge to Validation Resources4
Analytical Validation of a Computational Method for Pharmacogenetic Genotyping from Clinical Whole Exome Sequencing4
Validation and Clinical Utility of a Pan-Cancer Circulating Tumor DNA Assay as a First-Approach Test4
Clinical Validation of FusionPlex RNA Sequencing and Its Utility in the Diagnosis and Classification of Hematologic Neoplasms4
Instructions to Authors4
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis4
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 w4
Recommendations for Clinical Molecular Laboratories for Detection of Homologous Recombination Deficiency in Cancer3
Digital Droplet PCR Is a Reliable Tool to Improve Minimal Residual Disease Stratification in Adult Philadelphia-Negative Acute Lymphoblastic Leukemia3
Editorial Board3
Identification of Synonymous Pathogenic Variants in Monogenic Disorders by Integrating Exome with Transcriptome Sequencing3
A New Era for Molecular Diagnostics3
Characterization of Reference Materials for DPYD3
Table of Contents3
Variant Classification Discordance3
Multiplex PCR Assays for Identifying all Major Severe Acute Respiratory Syndrome Coronavirus 2 Variants3
Assay Validation of Cell-Free DNA Shallow Whole-Genome Sequencing to Determine Tumor Fraction in Advanced Cancers3
Toward Cytogenomics3
Development of Multiplex Drop-Off Digital PCR Assays for Hotspot Mutation Detection of KRAS, NRAS, BRAF, and PIK3CA in the Plasma of Colorectal Cancer Patients3
Table of Contents3
Advances in Host Depletion and Pathogen Enrichment Methods for Rapid Sequencing–Based Diagnosis of Bloodstream Infection3
Realizing the Dream of Precision Oncology3
Clinical Implementation of MetaFusion for Accurate Cancer-Driving Fusion Detection from RNA Sequencing3
A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield3
Highly Selective, Single-Tube Colorimetric Assay for Detection of Multiple Mutations in the Epidermal Growth Factor Receptor Gene3
Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis3
Preanalytical Histology Review Improves POLE Mutation Detection in Endometrial Carcinomas3
Fragment Size-Based Enrichment of Viral Sequences in Plasma Cell-Free DNA3
The Lund Molecular Taxonomy Applied to Non–Muscle-Invasive Urothelial Carcinoma3
Digital PCR for Minimal Residual Disease Quantitation Using Immunoglobulin/T-Cell Receptor Gene Rearrangements in Acute Lymphoblastic Leukemia3
Highly Sensitive Detection of Donor Chimerism by Next-Generation Sequencing3
Editorial Board3
Clinical Validation of Duoseq, a Novel Assay for Clinical DNA and RNA Sequencing3
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 3
Table of Contents3
Characterization of Reference Materials for TPMT and NUDT153
Comparison of the Clinical Accuracy of Xpert HPV Assay on Vaginal Self-Samples and Cervical Clinician-Taken Samples within the VALHUDES Framework3
Editorial Board3
Comparison of Illumina and Oxford Nanopore Sequencing Technologies for Pathogen Detection from Clinical Matrices Using Molecular Inversion Probes3
Optical Genome Mapping versus Whole-Genome Sequencing in the Clinical Diagnosis of Gynecologic Mesenchymal Tumors3
Performance Evaluation of a Commercial Automated Library Preparation System for Clinical Microbial Whole-Genome Sequencing Assays3
Table of Contents3
Partitioning for Easy Multiplexing2
Table of Contents2
Spotlight on Spotlight2
Scientific Integrity Policy2
Table of Contents2
Reviewer Acknowledgment2
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