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 2022-08-01 to 2026-08-01.)
ArticleCitations
Instructions to Authors82
The Molecular Genetic Pathology Fellowship Curriculum79
Editorial Board72
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia55
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors54
A Systematic Method to Detect Next-Generation Sequencing–Based Microsatellite Instability in Plasma Cell-Free DNA50
Considerations for Severe Acute Respiratory Syndrome Coronavirus 2 Genomic Surveillance49
Morphological Bone Score as a Predictive Tool for Molecular Profiling Success48
Next-Generation Sequencing–Based T-Cell Receptor Gene Rearrangement Analysis in Nodal T Follicular Helper Cell Lymphoma, a Comparison with the EuroClonality/BIOMED-2 Assay46
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 Cycle45
Table of Contents43
Editorial Board42
Long-Read Amplicon Sequencing for the Detection of TERT Promoter Variant Clonal Hematopoiesis in Patients with Telomere Biology Disorders42
miRNAs as Molecular Biomarkers for Prostate Cancer39
Correction33
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors33
Analytical Validation of Short-Read Genome Sequencing for Diagnostic Panel and Exome Testing32
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY32
Validation of Human Papillomavirus Genotyping by Oxford Nanopore Sequencing in Formalin-Fixed, Paraffin-Embedded Tissues and ThinPrep Anal and Gynecologic Samples29
Evaluating Discordant Somatic Calls Across Mutation Discovery Approaches to Minimize False-Negative Drug-Resistant Findings28
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 Samples27
Analysis of Clinical Laboratory Detecting Challenging Variants from Exome Sequencing Using Simulated Patient–Parent Trio Sample26
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent26
Editorial Board26
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions25
Twenty-Five Years of Germline Genetic Testing and What May Lie Ahead25
Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data23
Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting23
Editorial Board23
Purity Independent Subtyping of Tumors (PurIST) Pancreatic Cancer Classifier23
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease22
Table of Contents22
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 Diagnostic21
Pitfalls in Detecting MET Exon 14 Skipping Variants by DNA- and RNA-Based Next-Generation Sequencing Technologies in a Large Real-World Cohort and Results of the First Multinational External Quality A21
A Novel and Comprehensive Whole-Genome Sequencing–Based Preimplantation Genetic Testing Approach for Different Genetic Conditions20
Clinical Accuracy of Alinity m HR HPV Assay on Self- versus Clinician-Taken Samples Using the VALHUDES Protocol20
Author Index19
Author Index19
Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms19
Table of Contents19
Evaluation of Sensitive Urine DNA-Based PENK Methylation Test for Detecting Bladder Cancer in Patients with Hematuria19
Table of Contents19
Scientific Integrity Policy18
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
FoundationOne CDx and FoundationOne Heme Detect Epstein-Barr Virus with High Sensitivity and Specificity18
A Mass Spectrometry–Based Multiplexed Targeted Assay for Detection of Hemoglobinopathies from Dried Blood Spots18
Utility of Epstein-Barr Viral Load in Blood for Diagnosing and Predicting Prognosis of Lymphoma17
Evaluation of Pre-Analytical Variables for Human Papillomavirus Primary Screening from Self-Collected Vaginal Swabs17
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex17
Optimizing Insertion and Deletion Detection Using Next-Generation Sequencing in the Clinical Laboratory17
Multicenter Evaluation of the Idylla GeneFusion in Non–Small-Cell Lung Cancer17
Screening G6PD Mutations in Blood Donors by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry with High-Throughput and Multiple Targets17
Sensitivity and Specificity of Chimerism Tests in Predicting Leukemia Relapse Using Increasing Mixed Chimerism17
New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing17
Validation of NTRK Fusion Detection Using an Ultrarapid, Fully Automated Cartridge-Based PCR Assay17
Predicting recurrence of Stage IA lung adenocarcinoma using ctDNA whole genome mutational signatures16
Scientific Integrity Policy16
Table of Contents16
Comparison of Targeted RNA-Sequencing Platforms for Oncogenic Fusion Detection in Non–Small-Cell Lung Cancer16
Diagnostic Capacities for Multidrug-Resistant Tuberculosis in the World Health Organization European Region15
Minimal/Measurable Residual Disease Monitoring in Patients with Lymphoid Neoplasms by High-Throughput Sequencing of the T-Cell Receptor15
Editorial Board15
Instructions to Authors15
Validation of a Low-Volume (100 μL) Plasma Protocol for HIV-1 RNA Quantification Using the Hologic Aptima HIV-1 Quant Dx Assay14
Health Care Impact of Comprehensive Genomic Profiling of Solid Tumors in Patient Management Using POWER (Precision Oncology at Western University)14
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders13
miR-122 and miR-21 are Stable Components of miRNA Signatures of Early Lung Cancer after Validation in Three Independent Cohorts13
Comparison of the Diagnostic Performance of MeltPro and Next-Generation Sequencing in Determining Fluoroquinolone Resistance in Multidrug-Resistant Tuberculosis Isolates13
Clinical Validation of a Noninvasive Multi-Omics Method for Multicancer Early Detection in Retrospective and Prospective Cohorts13
Evaluation of Atypical Fluorescence in Situ Hybridization Findings by RNA Sequencing13
Analytical Validation of an Automated Semiconductor-Based Next-Generation Sequencing Assay for Detection of DNA and RNA Alterations in Myeloid Neoplasms13
Single-Tube, Switched Temperature Amplicon Barcoding for Multiplex Detection of Rare Mutations in Circulating Tumor DNA13
A Novel Approach to Detect IDH Point Mutations in Gliomas Using Nanopore Sequencing12
Celebrating 30 Years at the Heart of Precision Medicine12
Instructions to Authors12
Author Index12
Economic Impact of Whole Genome Sequencing and Whole Transcriptome Sequencing Versus Routine Diagnostic Molecular Testing to Stratify Patients with B-Cell Acute Lymphoblastic Leukemia12
Table of Contents12
Table of Contents11
Toward Comprehensive Detection of the SMN1/2 Genotypes11
Table of Contents11
Mono- and Biallelic Replication–Coupled Gene Editing Discriminates Dominant-Negative and Loss-of-Function Variants of DNA Mismatch Repair Genes11
Editorial Board10
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 Setting10
Development of a Body of Knowledge for the Clinical Bioinformatician10
Standardizing Laboratory Practices in Pharmacogenomics (STRIPE) Consensus Conference10
Clinical Implementation of a High-Throughput Automated Comprehensive Genomic Profiling Test10
Analysis of Molecular Testing for Suspected Myeloproliferative Neoplasm at a Hybrid Community-Academic Health System10
Table of Contents10
Optical Genome Mapping for Comprehensive Cytogenetic Analysis of Soft-Tissue and Bone Tumors for Diagnostic Purposes10
Table of Contents10
In Silico Approaches to Proficiency Testing10
Validation of the Labcorp Plasma Focus Test to Facilitate Precision Oncology Through Cell-Free DNA Genomic Profiling of Solid Tumors10
Development, Validation, and Implementation of an Augmented Multiwell, Multitarget Quantitative PCR for the Analysis of Human Papillomavirus Genotyping through Software Automation, Data Science, and A10
Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay10
The Clinical Validity of Urinary Pellet DNA Monitoring for the Diagnosis of Recurrent Bladder Cancer10
Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies10
Quality-Assured Analysis of PIK3CA Mutations in Hormone Receptor–Positive/Human Epidermal Growth Factor Receptor 2–Negative Breast Cancer Tissue9
Updates and Initiatives from The Journal of Molecular Diagnostics9
Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing9
Equivalent Clinical Accuracy of Human Papillomavirus DNA Testing Using Cobas 4800 and 6800 Human Papillomavirus Systems in Paired Urine and Cervical Samples9
Single-Molecule Counting for Noninvasive Prenatal Diagnosis of Autosomal Recessive Hearing Loss in at-Risk Families9
Dideoxy Sequencing Enhances Detection of KIT Mutations in Gastrointestinal Stromal Tumors Initially Evaluated by Next-Generation Sequencing Hotspot Panels9
Evaluation of the Novaplex II HPV28 Detection Assay for HPV Typing in Formalin-Fixed, Paraffin-Embedded Tissues9
Disclosure Statement9
Table of Contents9
Microcosting Study of Genomic Profiling for Precision Cancer Medicine9
CRISPR-Cas9 Targeted Enrichment and Next-Generation Sequencing for Mutation Detection9
Clinical Validation of the Roche cobas and cobas 4800 Human Papillomavirus Tests on Self-Collected Vaginal Dry Swabs versus Practitioner-Collected Cervical Specimens Using the VALHUDES Protocol8
Leveraging Off-Target Reads in Panel Sequencing for Homologous Recombination Repair Deficiency Screening in Tumor8
Comparison of the Mutational Profile between BCL2- and BCL6-Rearrangement Positive Follicular Lymphoma8
Surveillance of Disease Progression in Metastatic Breast Cancer by Molecular Counting of Circulating Tumor DNA Using Plasma-SeqSensei Breast Cancer in Vitro Diagnostics Assay8
High Prevalence of Chromosomal Rearrangements and LINE Retrotranspositions Detected in Formalin-Fixed, Paraffin-Embedded Colorectal Cancer Tissue8
Editorial Board8
Title Page8
Smart Nonuniformity for Calibrating Sequencing Depth of a Targeted Gene Panel to Simultaneously Detect Somatic and Germline Variants8
Author Index8
Developing Consensus for a More Provider-Friendly Next-Generation Sequencing Molecular Biomarker Report8
Validation and Performance of Quantitative BRCA1 and RAD51C Promoter Hypermethylation Testing in Breast and Ovarian Cancers8
Optimization of Pathologists' Roles in Molecular Biomarker Testing in Metastatic Breast Cancer8
Overcoming the Pitfalls of Next-Generation Sequencing–Based Molecular Diagnosis of Shwachman-Diamond Syndrome8
Table of Contents8
Mutational Signatures in Cancer8
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
Analytical Validation of a Plasma-Based Rapid Liquid Biopsy Assay Using Next-Generation Sequencing7
Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory7
Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms7
Table of Contents7
Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling7
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
Informatics Powering Data to Shape the Future of Molecular Pathology7
Development of a Rapid and High-Throughput Multiplex Real-Time PCR Assay for Mycoplasma hominis and Ureaplasma Species7
Correction7
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk7
Performance Characteristics of Next-Generation Sequencing–Based Engraftment Monitoring and Microchimerism Detection in Allogeneic Hematopoietic Cell Transplantation7
CYP3A4 and CYP3A5 Genotyping Recommendations7
A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia7
Utility of a Multiplex Molecular Respiratory Pathogen Panel on Clinical Management of Children in the Pediatric Emergency Department7
Editorial Board7
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 States7
Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing7
Next-Generation Sequencing–Based Genomic Profiling of Children with Acute Myeloid Leukemia6
The Era of Molecular Hematopathology6
Diagnostic Utility of Expression Imbalance in the Idylla GeneFusion Assay for Non–Small-Cell Lung Cancer6
Disclosure Statement6
Abstracts of the AMP Europe 2024 Congress6
CANTRK6
Sequential Approach to Improve the Molecular Classification of Childhood Acute Lymphoblastic Leukemia6
Cost-Effective Cas9-Mediated Targeted Sequencing of Spinocerebellar Ataxia Repeat Expansions6
Editorial Board6
NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing6
Production and Performance Assessment of a Severe Acute Respiratory Syndrome Coronavirus 2 Biomimetic in a Verification Program for Pandemic Readiness6
Characterization of Large Genomic Rearrangements in BRCA1 and BRCA2 Genes in a Chinese High-Risk Cohort5
Author Index5
The Correlation between Plasma Circulating Tumor DNA and Radiographic Tumor Burden5
Editorial Board5
Validation of a High-Sensitivity Assay for Detection of Chimeric Antigen Receptor T-Cell Vectors Using Low-Partition Digital PCR Technology5
Real-Time, Multiplexed SHERLOCK for in Vitro Diagnostics5
Clinical Performance of Tissue- and Plasma-Based Diagnostic Assays in Identifying Homologous Recombination Repair Gene Alterations in Patients with Metastatic Castration-Resistant Prostate Cancer foll5
Corrections5
FindDNAFusion5
Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing5
Homologous Recombination Deficiency as an Ovarian Cancer Biomarker in a Real-World Cohort5
Clinical Bioinformatician Body of Knowledge—Clinical Laboratory Regulation and Data Security Core5
Analytical Performance of the NCI-myeloMATCH Assay5
From Expert Knowledge to Validation Resources5
Comprehensive Analysis of Spinal Muscular Atrophy5
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 Spots5
Circulating Tumor DNA5
Digital PCR for Absolute Quantification of Adenoviruses5
Highly Selective, Single-Tube Colorimetric Assay for Detection of Multiple Mutations in the Epidermal Growth Factor Receptor Gene4
Editorial Board4
Highly Sensitive Detection Method of CXCR4 Tumor Hotspot Mutations by Drop-Off Droplet Digital PCR in Patients with IgM Monoclonal Gammopathies4
Detection of Constitutional Structural Variants by Optical Genome Mapping4
Validation and Clinical Utility of a Pan-Cancer Circulating Tumor DNA Assay as a First-Approach Test4
Validation and Implementation of a Somatic-Only Tumor Exome for Routine Clinical Application4
Genotype and Phenotype Correlation of the TPMT∗8 Allele in Thiopurine Metabolism4
Recommendations for the Use of in Silico Approaches for Next-Generation Sequencing Bioinformatic Pipeline Validation4
Universal Digital High-Resolution Melt Analysis for the Diagnosis of Bacteremia4
Editorial Board4
Noninvasive Detection of Bladder Cancer via Urinary DNA Mutation and Methylation Profiling Using Modified Real-Time Quantitative PCR4
New Updates and Guidelines in T-Cell Nomenclature Relevant to Molecular Pathology4
MET Exon 14 Skipping Mutations4
Path to Health Equity and Improved Outcomes through Inclusive Sex and Gender Data Collection in Genomic Testing4
SARCP, a Clinical Next-Generation Sequencing Assay for the Detection of Gene Fusions in Sarcomas4
Impact and Reproducibility of In-House Targeted Next-Generation Sequencing Biomarker Testing in Non–Small-Cell Lung Cancer4
Table of Contents4
A Cost-Effective and Labor-Saving Method for Detecting Human Leukocyte Antigen B27 Status via Sequence-Encoded Fluorescence Amplification Assay4
Table of Contents4
Abstracts of the AMP Europe 2026 Congress4
Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel4
Clinical Validation of FusionPlex RNA Sequencing and Its Utility in the Diagnosis and Classification of Hematologic Neoplasms4
A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes4
EarlyTect BCD, a Streamlined PENK Methylation Test in Urine DNA, Effectively Detects Bladder Cancer in Patients with Hematuria4
Table of Contents4
Table of Contents4
Evaluation of a Zoonotic Orthopoxvirus PCR Assay for the Detection of Mpox Virus Infection4
Characterization of Reference Materials for TPMT and NUDT153
Editorial Board3
Editorial Board3
Identification of Synonymous Pathogenic Variants in Monogenic Disorders by Integrating Exome with Transcriptome Sequencing3
Digital Droplet PCR Is a Reliable Tool to Improve Minimal Residual Disease Stratification in Adult Philadelphia-Negative Acute Lymphoblastic Leukemia3
Preanalytical Histology Review Improves POLE Mutation Detection in Endometrial Carcinomas3
Editorial Board3
A New Era for Molecular Diagnostics3
Characterization of Reference Materials for DPYD3
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 w3
Realizing the Dream of Precision Oncology3
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
Recommendations for Clinical Molecular Laboratories for Detection of Homologous Recombination Deficiency in Cancer3
Why Non-ASCII Unicode Characters Should Not Be Used in the Human Genome Variation Society Nomenclature3
Clinical Implementation of MetaFusion for Accurate Cancer-Driving Fusion Detection from RNA Sequencing3
Highly Sensitive Detection of Donor Chimerism by Next-Generation Sequencing3
Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis3
Comparison of the Clinical Accuracy of Xpert HPV Assay on Vaginal Self-Samples and Cervical Clinician-Taken Samples within the VALHUDES Framework3
Droplet Digital PCR and Quantitative RT-PCR Comparison for Circulating miR-371a-3p in Malignant Germ Cell Tumors3
Advances in Host Depletion and Pathogen Enrichment Methods for Rapid Sequencing–Based Diagnosis of Bloodstream Infection3
DNA Reference Reagents for Genotyping RH Variants3
The Lund Molecular Taxonomy Applied to Non–Muscle-Invasive Urothelial Carcinoma3
Variant Classification Discordance3
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
A Novel Bead-Capture Nanopore Sequencing Method for Large Structural Rearrangement Detection in Cancer3
Table of Contents3
CORRECTION3
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis3
Spotlight on Spotlight2
Comprehensive Validation of Diagnostic Next-Generation Sequencing Panels for Acute Myeloid Leukemia Patients2
Multicenter Clinical Comparison of the 10-Minute AMDI Fast PCR Mini Respiratory Panel and the Cepheid Xpert Xpress CoV-2/Flu/RSV plus2
Retaining Clinical Genomics Technologists in the Post–COVID-19 Era2
Table of Contents2
A Versatile and Upgraded Version of the LundTax Classification Algorithm Applied to Independent Cohorts2
Different States of Lung Allograft Injury Assessed by Plasma Donor-Derived and Total Cell-Free DNA2
Enhancing Trypanosomatid Identification and Genotyping with Oxford Nanopore Sequencing2
Editorial Board2
Two-Dimensional PCR for Identifying the HLA Alleles Associated with Adverse Drug Reactions2
RNA Sequencing Identifies Novel NRG1 Fusions in Solid Tumors that Lack Co-Occurring Oncogenic Drivers2
Performance Evaluation of a PCR/Nanopore Assay for Carrier Screening for Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome2
Analytical Validation of Blood-Derived Tumor Mutation Burden (bTMB) Assays2
Evaluating Multiple Next-Generation Sequencing–Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status2
Analytical Validation of the Labcorp Plasma Complete Test, a Cell-Free DNA Comprehensive Genomic Profiling Tool for Precision Oncology2
Bench to Bedside2
Author Index2
Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic Medicine2
Scientific Integrity Policy2
Partitioning for Easy Multiplexing2
Molecular Skin Cancer Diagnosis2
Next-Generation Sequencing Trends among Adult Patients with Select Advanced Tumor Types2
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