Journal of Molecular Diagnostics

Papers
(The median citation count of Journal of Molecular Diagnostics is 2. 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 2021-06-01 to 2025-06-01.)
ArticleCitations
Editorial Board118
Instructions to Authors76
Correction60
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors60
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY53
A Systematic Method to Detect Next-Generation Sequencing–Based Microsatellite Instability in Plasma Cell-Free DNA50
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors41
Considerations for Severe Acute Respiratory Syndrome Coronavirus 2 Genomic Surveillance40
Editorial Board40
Neurotrophin Receptor Kinase39
Table of Contents39
Editorial Board39
Transcriptome Analysis Identifies GATA3-AS1 as a Long Noncoding RNA Associated with Resistance to Neoadjuvant Chemotherapy in Locally Advanced Breast Cancer Patients37
Evaluating the Clinical Performance of a Dual-Target Stool DNA Test for Colorectal Cancer Detection36
The Molecular Genetic Pathology Fellowship Curriculum35
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 Cycle33
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia31
Diagnostic Utility of Gene Fusion Panel to Detect Gene Fusions in Fresh and Formalin-Fixed, Paraffin-Embedded Cancer Specimens31
Salivary High-Risk Human Papillomavirus (HPV) DNA as a Biomarker for HPV-Driven Head and Neck Cancers30
miRNAs as Molecular Biomarkers for Prostate Cancer30
Editorial Board29
A Novel and Comprehensive Whole-Genome Sequencing–Based Preimplantation Genetic Testing Approach for Different Genetic Conditions28
Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting27
Purity Independent Subtyping of Tumors (PurIST) Pancreatic Cancer Classifier26
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions26
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease26
Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data25
Twenty-Five Years of Germline Genetic Testing and What May Lie Ahead25
Multiple Immunoglobulin κ Gene Rearrangements within a Single Clone Unraveled by Next-Generation Sequencing–Based Clonality Assessment24
Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls24
The Isothermal Amplification AmpFire Assay for Human Papillomavirus (HPV) Detection and Genotyping in Formalin-Fixed, Paraffin-Embedded Oropharyngeal Cancer Samples24
DNA Methylation-Based Classification of Small B-Cell Lymphomas24
NTRK Gene Fusion Detection in a Pan-Cancer Setting Using the Idylla GeneFusion Assay23
Analysis of Clinical Laboratory Detecting Challenging Variants from Exome Sequencing Using Simulated Patient–Parent Trio Sample23
Evaluation of Sensitive Urine DNA-Based PENK Methylation Test for Detecting Bladder Cancer in Patients with Hematuria23
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
Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX20
Clinical Accuracy of Alinity m HR HPV Assay on Self- versus Clinician-Taken Samples Using the VALHUDES Protocol20
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent20
Table of Contents20
Author Index20
Validation of a Next-Generation Sequencing–Based T-Cell Receptor Gamma Gene Rearrangement Diagnostic Assay20
Evaluation of Pre-Analytical Variables for Human Papillomavirus Primary Screening from Self-Collected Vaginal Swabs20
Multicenter Evaluation of the Idylla GeneFusion in Non–Small-Cell Lung Cancer19
Optimizing Insertion and Deletion Detection Using Next-Generation Sequencing in the Clinical Laboratory19
Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms19
Sensitivity and Specificity of Chimerism Tests in Predicting Leukemia Relapse Using Increasing Mixed Chimerism19
Detection of Biallelic Loss of DNA Repair Genes in Formalin-Fixed, Paraffin-Embedded Tumor Samples Using a Novel Tumor-Only Sequencing Panel19
Utility of Epstein-Barr Viral Load in Blood for Diagnosing and Predicting Prognosis of Lymphoma19
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex19
Author Index18
Development and Validation of Signature Sequence–Based PCR for Improved Molecular Diagnosis of Tuberculosis18
Table of Contents18
Table of Contents18
Comparison of Results from Two Commercially Available In-House Tissue-Based Comprehensive Genomic Profiling Solutions17
Scientific Integrity Policy17
Hearing Impairment with Monoallelic GJB2 Variants17
PirePred17
Molecular Diagnosis of Toxoplasmosis17
Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence16
New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing16
Editorial Board16
Comparison of Targeted RNA-Sequencing Platforms for Oncogenic Fusion Detection in Non–Small-Cell Lung Cancer16
Scientific Integrity Policy16
A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)16
The Neoantigen Landscape of the Coding and Noncoding Cancer Genome Space16
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders16
Validation of a New High-Throughput BD COR System Using the BD CTGCTV2 Assay15
miR-122 and miR-21 are Stable Components of miRNA Signatures of Early Lung Cancer after Validation in Three Independent Cohorts15
Single-Tube, Switched Temperature Amplicon Barcoding for Multiplex Detection of Rare Mutations in Circulating Tumor DNA15
Minimal/Measurable Residual Disease Monitoring in Patients with Lymphoid Neoplasms by High-Throughput Sequencing of the T-Cell Receptor15
Instructions to Authors15
Assessment of BCOR Internal Tandem Duplications in Pediatric Cancers by Targeted RNA Sequencing14
Diagnostic Capacities for Multidrug-Resistant Tuberculosis in the World Health Organization European Region14
Economic Impact of Whole Genome Sequencing and Whole Transcriptome Sequencing Versus Routine Diagnostic Molecular Testing to Stratify Patients with B-Cell Acute Lymphoblastic Leukemia14
Analytical Validation of an Automated Semiconductor-Based Next-Generation Sequencing Assay for Detection of DNA and RNA Alterations in Myeloid Neoplasms14
Comparison of the Diagnostic Performance of MeltPro and Next-Generation Sequencing in Determining Fluoroquinolone Resistance in Multidrug-Resistant Tuberculosis Isolates14
Evaluating Diagnostic Accuracy of Saliva Sampling Methods for Severe Acute Respiratory Syndrome Coronavirus 2 Reveals Differential Sensitivity and Association with Viral Load14
Clinical Validation of a Noninvasive Multi-Omics Method for Multicancer Early Detection in Retrospective and Prospective 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
Table of Contents13
Elements in Maintaining a Driving Force13
Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies13
Editorial Board13
Identification of Tissue of Origin and Guided Therapeutic Applications in Cancers of Unknown Primary Using Deep Learning and RNA Sequencing (TransCUPtomics)13
The Clinical Validity of Urinary Pellet DNA Monitoring for the Diagnosis of Recurrent Bladder Cancer13
A Novel Approach to Detect IDH Point Mutations in Gliomas Using Nanopore Sequencing13
In Silico Approaches to Proficiency Testing13
Mono- and Biallelic Replication–Coupled Gene Editing Discriminates Dominant-Negative and Loss-of-Function Variants of DNA Mismatch Repair Genes13
Table of Contents12
Instructions to Authors12
Comparison of RNA-Based Next-Generation Sequencing Assays for the Detection of NTRK Gene Fusions12
Celebrating 30 Years at the Heart of Precision Medicine12
Author Index12
Optical Genome Mapping for Comprehensive Cytogenetic Analysis of Soft-Tissue and Bone Tumors for Diagnostic Purposes12
Analysis of Molecular Testing for Suspected Myeloproliferative Neoplasm at a Hybrid Community-Academic Health System12
Standardizing Laboratory Practices in Pharmacogenomics (STRIPE) Consensus Conference11
Reverse-Transcription Loop-Mediated Isothermal Amplification Has High Accuracy for Detecting Severe Acute Respiratory Syndrome Coronavirus 2 in Saliva and Nasopharyngeal/Oropharyngeal Swabs from Asymp11
Clinically Responsive Genomic Analysis Pipelines11
Development of a Body of Knowledge for the Clinical Bioinformatician11
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
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
Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay11
Validation of the Labcorp Plasma Focus Test to Facilitate Precision Oncology Through Cell-Free DNA Genomic Profiling of Solid Tumors11
Validation of Long Mononucleotide Repeat Markers for Detection of Microsatellite Instability11
Clinical Implementation of a High-Throughput Automated Comprehensive Genomic Profiling Test11
Table of Contents10
Editorial Board10
Table of Contents10
Quality-Assured Analysis of PIK3CA Mutations in Hormone Receptor–Positive/Human Epidermal Growth Factor Receptor 2–Negative Breast Cancer Tissue10
Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing10
Table of Contents10
Updates and Initiatives from The Journal of Molecular Diagnostics10
Clinical Validation of Whole Genome Sequencing for Cancer Diagnostics10
Quantitative Off-Target Detection of Epstein-Barr Virus–Derived DNA in Routine Molecular Profiling of Hematopoietic Neoplasms by Panel-Based Hybrid-Capture Next-Generation Sequencing10
Equivalent Clinical Accuracy of Human Papillomavirus DNA Testing Using Cobas 4800 and 6800 Human Papillomavirus Systems in Paired Urine and Cervical Samples10
Comparison of Two Quantitative PCR–Based Assays for Detection of Minimal Residual Disease in B-Precursor Acute Lymphoblastic Leukemia Harboring Three Major Fusion Transcripts10
Reviewer Acknowledgment10
Evaluation of the Novaplex II HPV28 Detection Assay for HPV Typing in Formalin-Fixed, Paraffin-Embedded Tissues10
CRISPR-Cas9 Targeted Enrichment and Next-Generation Sequencing for Mutation Detection10
Evaluation of Two Commercial Kits on the Automated ELITe InGenius PCR Platform for Molecular Diagnosis of Toxoplasmosis10
RNA-Based Targeted Gene Sequencing Improves the Diagnostic Yield of Mutant Detection in Chronic Myeloid Leukemia9
High Prevalence of Chromosomal Rearrangements and LINE Retrotranspositions Detected in Formalin-Fixed, Paraffin-Embedded Colorectal Cancer Tissue9
Ultrasensitive Quantitation of Genomic Chimerism by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing of Copy Number Deletion Polymorphisms9
Table of Contents9
Editorial Board9
Validation and Performance of Quantitative BRCA1 and RAD51C Promoter Hypermethylation Testing in Breast and Ovarian Cancers9
Leveraging Off-Target Reads in Panel Sequencing for Homologous Recombination Repair Deficiency Screening in Tumor9
Accurate Detection and Quantification of FLT3 Internal Tandem Duplications in Clinical Hybrid Capture Next-Generation Sequencing Data9
Practical Considerations for Using RNA Sequencing in Management of B-Lymphoblastic Leukemia8
Smart Nonuniformity8
Editorial Board8
Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment8
Molecular Testing in Breast Cancer8
Development of a Rapid and High-Throughput Multiplex Real-Time PCR Assay for Mycoplasma hominis and Ureaplasma Species8
Authors' Reply8
Overcoming the Pitfalls of Next-Generation Sequencing–Based Molecular Diagnosis of Shwachman-Diamond Syndrome8
Leading in a Clinical Molecular Laboratory8
Editorial Board8
Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling8
Performance Characteristics of Next-Generation Sequencing–Based Engraftment Monitoring and Microchimerism Detection in Allogeneic Hematopoietic Cell Transplantation8
Investigating the Pathogenicity of Uncommon KRAS Mutations and Their Association with Clinicopathologic Characteristics in Patients with Colorectal Cancer8
A Curriculum for Genomic Education of Molecular Genetic Pathology Fellows8
Mutational Signatures in Cancer8
Surveillance of Disease Progression in Metastatic Breast Cancer by Molecular Counting of Circulating Tumor DNA Using Plasma-SeqSensei Breast Cancer in Vitro Diagnostics Assay8
Correction8
Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms8
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
Next-Generation Sequencing–Based Antigen-Receptor Gene Clonality Assays7
Sequential Approach to Improve the Molecular Classification of Childhood Acute Lymphoblastic Leukemia7
Production and Performance Assessment of a Severe Acute Respiratory Syndrome Coronavirus 2 Biomimetic in a Verification Program for Pandemic Readiness7
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 Spots7
Evaluation of the TruSight Oncology 500 Assay for Routine Clinical Testing of Tumor Mutational Burden and Clinical Utility for Predicting Response to Pembrolizumab7
CYP3A4 and CYP3A5 Genotyping Recommendations7
Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing7
The Era of Molecular Hematopathology7
The Correlation between Plasma Circulating Tumor DNA and Radiographic Tumor Burden7
Disclosure Statement7
Validation of a High-Sensitivity Assay for Detection of Chimeric Antigen Receptor T-Cell Vectors Using Low-Partition Digital PCR Technology7
CANTRK7
Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory7
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
Cost-Effective Cas9-Mediated Targeted Sequencing of Spinocerebellar Ataxia Repeat Expansions7
NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing7
Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing7
Ig Gene Clonality Analysis Using Next-Generation Sequencing for Improved Minimal Residual Disease Detection with Significant Prognostic Value in Multiple Myeloma Patients7
Editorial Board7
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk7
Analytical Performance of the NCI-myeloMATCH Assay6
Development and Validation of StrataNGS, a Multiplex PCR, Semiconductor Sequencing-Based Comprehensive Genomic Profiling Test6
Editorial Board6
Clinical Bioinformatician Body of Knowledge—Clinical Laboratory Regulation and Data Security Core6
Genotype and Phenotype Correlation of the TPMT∗8 Allele in Thiopurine Metabolism6
Abstracts of the AMP Europe 2024 Congress6
Next-Generation Sequencing Concordance Analysis of Comprehensive Solid Tumor Profiling between a Centralized Specialty Laboratory and the Decentralized Personal Genome Diagnostics elio Tissue Complete6
Next-Generation Sequencing–Based Genomic Profiling of Children with Acute Myeloid Leukemia6
An Educational Assessment of Evidence Used for Variant Classification6
Noninvasive Detection of Hepatocellular Carcinoma with Circulating Tumor DNA Features and α-Fetoprotein6
Prolonged Unfrozen Storage and Repeated Freeze-Thawing of SARS-CoV-2 Patient Samples Have Minor Effects on SARS-CoV-2 Detectability by RT-PCR6
Circulating Tumor DNA6
Real-Time, Multiplexed SHERLOCK for in Vitro Diagnostics6
Author Index6
Homologous Recombination Deficiency as an Ovarian Cancer Biomarker in a Real-World Cohort6
FindDNAFusion6
Analytical Validation of a Computational Method for Pharmacogenetic Genotyping from Clinical Whole Exome Sequencing6
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 Surveillance5
EarlyTect BCD, a Streamlined PENK Methylation Test in Urine DNA, Effectively Detects Bladder Cancer in Patients with Hematuria5
SARCP, a Clinical Next-Generation Sequencing Assay for the Detection of Gene Fusions in Sarcomas5
Evaluation of a Zoonotic Orthopoxvirus PCR Assay for the Detection of Mpox Virus Infection5
DNA Methylation Profiling Discriminates between Malignant Pleural Mesothelioma and Neoplastic or Reactive Histologic Mimics5
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases5
Automated Detection of Arm-Level Alterations for Individual Cancer Patients in the Clinical Setting5
Corrections5
Recommendations for the Use of in Silico Approaches for Next-Generation Sequencing Bioinformatic Pipeline Validation5
Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel5
Comprehensive Analysis of Spinal Muscular Atrophy5
Path to Health Equity and Improved Outcomes through Inclusive Sex and Gender Data Collection in Genomic Testing5
Automated Pharmacogenomic Reports for Clinical Genome Sequencing5
Validation and Implementation of a Somatic-Only Tumor Exome for Routine Clinical Application5
Instructions to Authors5
Table of Contents5
Authors' Reply4
Impact and Reproducibility of In-House Targeted Next-Generation Sequencing Biomarker Testing in Non–Small-Cell Lung Cancer4
A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes4
Highly Sensitive Detection Method of CXCR4 Tumor Hotspot Mutations by Drop-Off Droplet Digital PCR in Patients with IgM Monoclonal Gammopathies4
MET Exon 14 Skipping Mutations4
Performance Assessment of the Devyser High-Throughput Sequencing–Based Assay for Chimerism Monitoring in Patients after Allogeneic Hematopoietic Stem Cell Transplantation4
Editorial Board4
Characterization of Reference Materials for TPMT and NUDT154
A Novel Bead-Capture Nanopore Sequencing Method for Large Structural Rearrangement Detection in Cancer4
Accurate Quantification of T Cells in Copy Number Stable and Unstable DNA Samples Using Multiplex Digital PCR4
Table of Contents4
Detection of Constitutional Structural Variants by Optical Genome Mapping4
Assessment of MYC/PTEN Status by Gene-Protein Assay in Grade Group 2 Prostate Biopsies4
Transitioning T-Cell Clonality Testing to High-Throughput Sequencing4
Clinical Validation of FusionPlex RNA Sequencing and Its Utility in the Diagnosis and Classification of Hematologic Neoplasms4
A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield4
Highly Selective, Single-Tube Colorimetric Assay for Detection of Multiple Mutations in the Epidermal Growth Factor Receptor Gene4
Table of Contents4
Characterization of Reference Materials for DPYD4
Editorial Board4
Development of Cooperative Primer-Based Real-Time PCR Assays for the Detection of Plasmodium malariae and Plasmodium ovale4
Table of Contents4
Next-Generation Sequencing Is More Efficient at Detecting Mosaic Embryos and Improving Pregnancy Outcomes than Single-Nucleotide Polymorphism Array Analysis4
Universal Digital High-Resolution Melt Analysis for the Diagnosis of Bacteremia4
A Cost-Effective and Labor-Saving Method for Detecting Human Leukocyte Antigen B27 Status via Sequence-Encoded Fluorescence Amplification Assay4
Table of Contents4
Comparison of the Clinical Accuracy of Xpert HPV Assay on Vaginal Self-Samples and Cervical Clinician-Taken Samples within the VALHUDES Framework4
Table of Contents4
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
A New Era for Molecular Diagnostics4
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis4
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 Approach4
Table of Contents3
Development of an Optimized Tetra-Amplification Refractory Mutation System PCR for Detection of 12 Pathogenic Familial Hypercholesterolemia Variants in the Asian Population3
A Highly Sensitive Pan-Cancer Test for Microsatellite Instability3
DNA Reference Reagents for Genotyping RH Variants3
Performance Evaluation of a Commercial Automated Library Preparation System for Clinical Microbial Whole-Genome Sequencing Assays3
Fragment Size-Based Enrichment of Viral Sequences in Plasma Cell-Free DNA3
Table of Contents3
Comparative Analysis of Gene Expression Analysis Methods for RNA in Situ Hybridization Images3
Instructions to Authors3
Targeted Genotyping in Clinical Pharmacogenomics3
Toward Cytogenomics3
Deciphering Genomic Complexity of Multiple Myeloma Using Optimized Optical Genome Mapping3
SILO3
Title Page3
The Lund Molecular Taxonomy Applied to Non–Muscle-Invasive Urothelial Carcinoma3
Implementation of DNA Methylation Array Profiling in Pediatric Central Nervous System Tumors3
Correction3
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