OOIR: Observatory of International Research

Papers

(The TQCC of Journal of Molecular Diagnostics is 7. 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 2022-05-01 to 2026-05-01.)

Article	Citations
Instructions to Authors	71
Validation of Human Papillomavirus Genotyping by Oxford Nanopore Sequencing in Formalin-Fixed, Paraffin-Embedded Tissues and ThinPrep Anal and Gynecologic Samples	63
Editorial Board	62
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia	50
Correction	50
Considerations for Severe Acute Respiratory Syndrome Coronavirus 2 Genomic Surveillance	48
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 Cycle	47
Next-Generation Sequencing–Based T-Cell Receptor Gene Rearrangement Analysis in Nodal T Follicular Helper Cell Lymphoma, a Comparison with the EuroClonality/BIOMED-2 Assay	43
Table of Contents	42
A Systematic Method to Detect Next-Generation Sequencing–Based Microsatellite Instability in Plasma Cell-Free DNA	41
The Molecular Genetic Pathology Fellowship Curriculum	41
miRNAs as Molecular Biomarkers for Prostate Cancer	40
Editorial Board	40
Long-Read Amplicon Sequencing for the Detection of TERT Promoter Variant Clonal Hematopoiesis in Patients with Telomere Biology Disorders	38
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY	38
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors	33
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors	32
Morphological Bone Score as a Predictive Tool for Molecular Profiling Success	31
Evaluating Discordant Somatic Calls Across Mutation Discovery Approaches to Minimize False-Negative Drug-Resistant Findings	31
Evaluation of Sensitive Urine DNA-Based PENK Methylation Test for Detecting Bladder Cancer in Patients with Hematuria	27
NTRK Gene Fusion Detection in a Pan-Cancer Setting Using the Idylla GeneFusion Assay	27
Table of Contents	27
Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting	27
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions	26
Editorial Board	26

Twenty-Five Years of Germline Genetic Testing and What May Lie Ahead	25
Editorial Board	24
Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data	24
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent	23
Purity Independent Subtyping of Tumors (PurIST) Pancreatic Cancer Classifier	23
Analysis of Clinical Laboratory Detecting Challenging Variants from Exome Sequencing Using Simulated Patient–Parent Trio Sample	23
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease	21
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 Samples	21
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 Diagnostic	20
Clinical Accuracy of Alinity m HR HPV Assay on Self- versus Clinician-Taken Samples Using the VALHUDES Protocol	20
A Novel and Comprehensive Whole-Genome Sequencing–Based Preimplantation Genetic Testing Approach for Different Genetic Conditions	19
Table of Contents	19
Optimizing Insertion and Deletion Detection Using Next-Generation Sequencing in the Clinical Laboratory	18
Author Index	18
Screening G6PD Mutations in Blood Donors by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry with High-Throughput and Multiple Targets	18
Utility of Epstein-Barr Viral Load in Blood for Diagnosing and Predicting Prognosis of Lymphoma	18
The Neoantigen Landscape of the Coding and Noncoding Cancer Genome Space	18
Author Index	18
Evaluation of Pre-Analytical Variables for Human Papillomavirus Primary Screening from Self-Collected Vaginal Swabs	18
Table of Contents	18
Sensitivity and Specificity of Chimerism Tests in Predicting Leukemia Relapse Using Increasing Mixed Chimerism	17
Scientific Integrity Policy	17
Comparison of Targeted RNA-Sequencing Platforms for Oncogenic Fusion Detection in Non–Small-Cell Lung Cancer	17
Comparison of Results from Two Commercially Available In-House Tissue-Based Comprehensive Genomic Profiling Solutions	16
Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms	16
New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing	16
Multicenter Evaluation of the Idylla GeneFusion in Non–Small-Cell Lung Cancer	16
A Mass Spectrometry–Based Multiplexed Targeted Assay for Detection of Hemoglobinopathies from Dried Blood Spots	16
FoundationOne CDx and FoundationOne Heme Detect Epstein-Barr Virus with High Sensitivity and Specificity	16
Molecular Diagnosis of Toxoplasmosis	16
Detection of Biallelic Loss of DNA Repair Genes in Formalin-Fixed, Paraffin-Embedded Tumor Samples Using a Novel Tumor-Only Sequencing Panel	16
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex	16
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders	15
Instructions to Authors	15
Scientific Integrity Policy	15
Analytical Validation of an Automated Semiconductor-Based Next-Generation Sequencing Assay for Detection of DNA and RNA Alterations in Myeloid Neoplasms	15
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-Free	15
Health Care Impact of Comprehensive Genomic Profiling of Solid Tumors in Patient Management Using POWER (Precision Oncology at Western University)	14
Editorial Board	14
Economic Impact of Whole Genome Sequencing and Whole Transcriptome Sequencing Versus Routine Diagnostic Molecular Testing to Stratify Patients with B-Cell Acute Lymphoblastic Leukemia	14
Diagnostic Capacities for Multidrug-Resistant Tuberculosis in the World Health Organization European Region	14
Single-Tube, Switched Temperature Amplicon Barcoding for Multiplex Detection of Rare Mutations in Circulating Tumor DNA	14
Minimal/Measurable Residual Disease Monitoring in Patients with Lymphoid Neoplasms by High-Throughput Sequencing of the T-Cell Receptor	14
Validation of a New High-Throughput BD COR System Using the BD CTGCTV2 Assay	13
Comparison of the Diagnostic Performance of MeltPro and Next-Generation Sequencing in Determining Fluoroquinolone Resistance in Multidrug-Resistant Tuberculosis Isolates	13
Validation of a Low-Volume (100 μL) Plasma Protocol for HIV-1 RNA Quantification Using the Hologic Aptima HIV-1 Quant Dx Assay	13
miR-122 and miR-21 are Stable Components of miRNA Signatures of Early Lung Cancer after Validation in Three Independent Cohorts	13
Clinical Validation of a Noninvasive Multi-Omics Method for Multicancer Early Detection in Retrospective and Prospective Cohorts	13
Instructions to Authors	12
Celebrating 30 Years at the Heart of Precision Medicine	12

In Silico Approaches to Proficiency Testing	12
Optical Genome Mapping for Comprehensive Cytogenetic Analysis of Soft-Tissue and Bone Tumors for Diagnostic Purposes	12
Table of Contents	12
Toward Comprehensive Detection of the SMN1/2 Genotypes	12
Elements in Maintaining a Driving Force	12
Evaluation of Atypical Fluorescence in Situ Hybridization Findings by RNA Sequencing	12
Author Index	12
Table of Contents	12
Mono- and Biallelic Replication–Coupled Gene Editing Discriminates Dominant-Negative and Loss-of-Function Variants of DNA Mismatch Repair Genes	11
Table of Contents	11
Development of a Body of Knowledge for the Clinical Bioinformatician	11
Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay	11
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 Setting	11
Validation of the Labcorp Plasma Focus Test to Facilitate Precision Oncology Through Cell-Free DNA Genomic Profiling of Solid Tumors	11
Standardizing Laboratory Practices in Pharmacogenomics (STRIPE) Consensus Conference	11
Editorial Board	11
Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies	10
Development, Validation, and Implementation of an Augmented Multiwell, Multitarget Quantitative PCR for the Analysis of Human Papillomavirus Genotyping through Software Automation, Data Science, and A	10
Clinical Implementation of a High-Throughput Automated Comprehensive Genomic Profiling Test	10
The Clinical Validity of Urinary Pellet DNA Monitoring for the Diagnosis of Recurrent Bladder Cancer	10
Analysis of Molecular Testing for Suspected Myeloproliferative Neoplasm at a Hybrid Community-Academic Health System	10
Single-Molecule Counting for Noninvasive Prenatal Diagnosis of Autosomal Recessive Hearing Loss in at-Risk Families	9
Table of Contents	9
Evaluation of the Novaplex II HPV28 Detection Assay for HPV Typing in Formalin-Fixed, Paraffin-Embedded Tissues	9
Table of Contents	9
Dideoxy Sequencing Enhances Detection of KIT Mutations in Gastrointestinal Stromal Tumors Initially Evaluated by Next-Generation Sequencing Hotspot Panels	9
CRISPR-Cas9 Targeted Enrichment and Next-Generation Sequencing for Mutation Detection	9
Editorial Board	9
Disclosure Statement	9
RNA-Based Targeted Gene Sequencing Improves the Diagnostic Yield of Mutant Detection in Chronic Myeloid Leukemia	9
Quality-Assured Analysis of PIK3CA Mutations in Hormone Receptor–Positive/Human Epidermal Growth Factor Receptor 2–Negative Breast Cancer Tissue	9
Equivalent Clinical Accuracy of Human Papillomavirus DNA Testing Using Cobas 4800 and 6800 Human Papillomavirus Systems in Paired Urine and Cervical Samples	9
A Novel Approach to Detect IDH Point Mutations in Gliomas Using Nanopore Sequencing	9
Table of Contents	9
Comparison of the Mutational Profile between BCL2- and BCL6-Rearrangement Positive Follicular Lymphoma	9
Updates and Initiatives from The Journal of Molecular Diagnostics	9
Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing	8
Leveraging Off-Target Reads in Panel Sequencing for Homologous Recombination Repair Deficiency Screening in Tumor	8
Title Page	8
Surveillance of Disease Progression in Metastatic Breast Cancer by Molecular Counting of Circulating Tumor DNA Using Plasma-SeqSensei Breast Cancer in Vitro Diagnostics Assay	8
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk	8
High Prevalence of Chromosomal Rearrangements and LINE Retrotranspositions Detected in Formalin-Fixed, Paraffin-Embedded Colorectal Cancer Tissue	8
Validation and Performance of Quantitative BRCA1 and RAD51C Promoter Hypermethylation Testing in Breast and Ovarian Cancers	8
Table of Contents	8
Developing Consensus for a More Provider-Friendly Next-Generation Sequencing Molecular Biomarker Report	8
Editorial Board	8
Microcosting Study of Genomic Profiling for Precision Cancer Medicine	8
Overcoming the Pitfalls of Next-Generation Sequencing–Based Molecular Diagnosis of Shwachman-Diamond Syndrome	8
Smart Nonuniformity for Calibrating Sequencing Depth of a Targeted Gene Panel to Simultaneously Detect Somatic and Germline Variants	8
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 Li	8
Mutational Signatures in Cancer	8
Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory	7
Next-Generation Sequencing–Based Genomic Profiling of Children with Acute Myeloid Leukemia	7
Performance Characteristics of Next-Generation Sequencing–Based Engraftment Monitoring and Microchimerism Detection in Allogeneic Hematopoietic Cell Transplantation	7
Table of Contents	7
Informatics Powering Data to Shape the Future of Molecular Pathology	7
Correction	7
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	7
Editorial Board	7
Abstracts of the AMP Europe 2024 Congress	7
CYP3A4 and CYP3A5 Genotyping Recommendations	7
Editorial Board	7
Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms	7
Development of a Rapid and High-Throughput Multiplex Real-Time PCR Assay for Mycoplasma hominis and Ureaplasma Species	7
Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment	7
The Era of Molecular Hematopathology	7
Evaluation of the TruSight Oncology 500 Assay for Routine Clinical Testing of Tumor Mutational Burden and Clinical Utility for Predicting Response to Pembrolizumab	7
Investigating the Pathogenicity of Uncommon KRAS Mutations and Their Association with Clinicopathologic Characteristics in Patients with Colorectal Cancer	7
Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing	7
Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling	7