OOIR: Observatory of International Research

Papers

(The TQCC of Journal of Molecular Diagnostics is 6. 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.)

Article	Citations
Instructions to Authors	82
The Molecular Genetic Pathology Fellowship Curriculum	79
Editorial Board	72
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia	55
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors	54
A Systematic Method to Detect Next-Generation Sequencing–Based Microsatellite Instability in Plasma Cell-Free DNA	50
Considerations for Severe Acute Respiratory Syndrome Coronavirus 2 Genomic Surveillance	49
Morphological Bone Score as a Predictive Tool for Molecular Profiling Success	48
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	46
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	45
Table of Contents	43
Long-Read Amplicon Sequencing for the Detection of TERT Promoter Variant Clonal Hematopoiesis in Patients with Telomere Biology Disorders	42
Editorial Board	42
miRNAs as Molecular Biomarkers for Prostate Cancer	39
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors	33
Correction	33
Analytical Validation of Short-Read Genome Sequencing for Diagnostic Panel and Exome Testing	32
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY	32
Validation of Human Papillomavirus Genotyping by Oxford Nanopore Sequencing in Formalin-Fixed, Paraffin-Embedded Tissues and ThinPrep Anal and Gynecologic Samples	29
Evaluating Discordant Somatic Calls Across Mutation Discovery Approaches to Minimize False-Negative Drug-Resistant Findings	28
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	27
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent	26
Editorial Board	26
Analysis of Clinical Laboratory Detecting Challenging Variants from Exome Sequencing Using Simulated Patient–Parent Trio Sample	26
Twenty-Five Years of Germline Genetic Testing and What May Lie Ahead	25

Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions	25
Editorial Board	23
Purity Independent Subtyping of Tumors (PurIST) Pancreatic Cancer Classifier	23
Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data	23
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	23
Table of Contents	22
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease	22
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	21
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 A	21
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	20
Evaluation of Sensitive Urine DNA-Based PENK Methylation Test for Detecting Bladder Cancer in Patients with Hematuria	19
Table of Contents	19
Author Index	19
Author Index	19
Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms	19
Table of Contents	19
Detection of Biallelic Loss of DNA Repair Genes in Formalin-Fixed, Paraffin-Embedded Tumor Samples Using a Novel Tumor-Only Sequencing Panel	18
FoundationOne CDx and FoundationOne Heme Detect Epstein-Barr Virus with High Sensitivity and Specificity	18
A Mass Spectrometry–Based Multiplexed Targeted Assay for Detection of Hemoglobinopathies from Dried Blood Spots	18
Scientific Integrity Policy	18
Comparison of Results from Two Commercially Available In-House Tissue-Based Comprehensive Genomic Profiling Solutions	18
Optimizing Insertion and Deletion Detection Using Next-Generation Sequencing in the Clinical Laboratory	17
Multicenter Evaluation of the Idylla GeneFusion in Non–Small-Cell Lung Cancer	17
Screening G6PD Mutations in Blood Donors by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry with High-Throughput and Multiple Targets	17
Sensitivity and Specificity of Chimerism Tests in Predicting Leukemia Relapse Using Increasing Mixed Chimerism	17
New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing	17
Validation of NTRK Fusion Detection Using an Ultrarapid, Fully Automated Cartridge-Based PCR Assay	17
Utility of Epstein-Barr Viral Load in Blood for Diagnosing and Predicting Prognosis of Lymphoma	17
Evaluation of Pre-Analytical Variables for Human Papillomavirus Primary Screening from Self-Collected Vaginal Swabs	17
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex	17
Table of Contents	16
Comparison of Targeted RNA-Sequencing Platforms for Oncogenic Fusion Detection in Non–Small-Cell Lung Cancer	16
Predicting recurrence of Stage IA lung adenocarcinoma using ctDNA whole genome mutational signatures	16
Scientific Integrity Policy	16
Editorial Board	15
Instructions to Authors	15
Diagnostic Capacities for Multidrug-Resistant Tuberculosis in the World Health Organization European Region	15
Minimal/Measurable Residual Disease Monitoring in Patients with Lymphoid Neoplasms by High-Throughput Sequencing of the T-Cell Receptor	15
Validation of a Low-Volume (100 μL) Plasma Protocol for HIV-1 RNA Quantification Using the Hologic Aptima HIV-1 Quant Dx Assay	14
Health Care Impact of Comprehensive Genomic Profiling of Solid Tumors in Patient Management Using POWER (Precision Oncology at Western University)	14
Evaluation of Atypical Fluorescence in Situ Hybridization Findings by RNA Sequencing	13
Analytical Validation of an Automated Semiconductor-Based Next-Generation Sequencing Assay for Detection of DNA and RNA Alterations in Myeloid Neoplasms	13
Single-Tube, Switched Temperature Amplicon Barcoding for Multiplex Detection of Rare Mutations in Circulating Tumor DNA	13
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders	13
miR-122 and miR-21 are Stable Components of miRNA Signatures of Early Lung Cancer after Validation in Three Independent Cohorts	13
Comparison of the Diagnostic Performance of MeltPro and Next-Generation Sequencing in Determining Fluoroquinolone Resistance in Multidrug-Resistant Tuberculosis Isolates	13
Clinical Validation of a Noninvasive Multi-Omics Method for Multicancer Early Detection in Retrospective and Prospective Cohorts	13
Author Index	12
Economic Impact of Whole Genome Sequencing and Whole Transcriptome Sequencing Versus Routine Diagnostic Molecular Testing to Stratify Patients with B-Cell Acute Lymphoblastic Leukemia	12

Table of Contents	12
A Novel Approach to Detect IDH Point Mutations in Gliomas Using Nanopore Sequencing	12
Celebrating 30 Years at the Heart of Precision Medicine	12
Instructions to Authors	12
Table of Contents	11
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
Toward Comprehensive Detection of the SMN1/2 Genotypes	11
Optical Genome Mapping for Comprehensive Cytogenetic Analysis of Soft-Tissue and Bone Tumors for Diagnostic Purposes	10
Table of Contents	10
In Silico Approaches to Proficiency Testing	10
Validation of the Labcorp Plasma Focus Test to Facilitate Precision Oncology Through Cell-Free DNA Genomic Profiling of Solid Tumors	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
Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay	10
The Clinical Validity of Urinary Pellet DNA Monitoring for the Diagnosis of Recurrent Bladder Cancer	10
Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies	10
Editorial Board	10
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	10
Development of a Body of Knowledge for the Clinical Bioinformatician	10
Standardizing Laboratory Practices in Pharmacogenomics (STRIPE) Consensus Conference	10
Clinical Implementation of a High-Throughput Automated Comprehensive Genomic Profiling Test	10
Analysis of Molecular Testing for Suspected Myeloproliferative Neoplasm at a Hybrid Community-Academic Health System	10
Table of Contents	10
Single-Molecule Counting for Noninvasive Prenatal Diagnosis of Autosomal Recessive Hearing Loss in at-Risk Families	9
Dideoxy Sequencing Enhances Detection of KIT Mutations in Gastrointestinal Stromal Tumors Initially Evaluated by Next-Generation Sequencing Hotspot Panels	9
Evaluation of the Novaplex II HPV28 Detection Assay for HPV Typing in Formalin-Fixed, Paraffin-Embedded Tissues	9
Disclosure Statement	9
Table of Contents	9
Microcosting Study of Genomic Profiling for Precision Cancer Medicine	9
CRISPR-Cas9 Targeted Enrichment and Next-Generation Sequencing for Mutation Detection	9
Quality-Assured Analysis of PIK3CA Mutations in Hormone Receptor–Positive/Human Epidermal Growth Factor Receptor 2–Negative Breast Cancer Tissue	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	9
Equivalent Clinical Accuracy of Human Papillomavirus DNA Testing Using Cobas 4800 and 6800 Human Papillomavirus Systems in Paired Urine and Cervical Samples	9
Developing Consensus for a More Provider-Friendly Next-Generation Sequencing Molecular Biomarker Report	8
Validation and Performance of Quantitative BRCA1 and RAD51C Promoter Hypermethylation Testing in Breast and Ovarian Cancers	8
Optimization of Pathologists' Roles in Molecular Biomarker Testing in Metastatic Breast Cancer	8
Overcoming the Pitfalls of Next-Generation Sequencing–Based Molecular Diagnosis of Shwachman-Diamond Syndrome	8
Table of Contents	8
Mutational Signatures in Cancer	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
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 Protocol	8
Leveraging Off-Target Reads in Panel Sequencing for Homologous Recombination Repair Deficiency Screening in Tumor	8
Comparison of the Mutational Profile between BCL2- and BCL6-Rearrangement Positive Follicular Lymphoma	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
High Prevalence of Chromosomal Rearrangements and LINE Retrotranspositions Detected in Formalin-Fixed, Paraffin-Embedded Colorectal Cancer Tissue	8
Editorial Board	8
Title Page	8
Smart Nonuniformity for Calibrating Sequencing Depth of a Targeted Gene Panel to Simultaneously Detect Somatic and Germline Variants	8
Author Index	8
Development of a Rapid and High-Throughput Multiplex Real-Time PCR Assay for Mycoplasma hominis and Ureaplasma Species	7
Correction	7
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk	7
Performance Characteristics of Next-Generation Sequencing–Based Engraftment Monitoring and Microchimerism Detection in Allogeneic Hematopoietic Cell Transplantation	7
CYP3A4 and CYP3A5 Genotyping Recommendations	7
A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia	7
Utility of a Multiplex Molecular Respiratory Pathogen Panel on Clinical Management of Children in the Pediatric Emergency Department	7
Editorial Board	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
Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing	7
Analytical Validation of a Plasma-Based Rapid Liquid Biopsy Assay Using Next-Generation Sequencing	7
Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory	7
Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms	7
Table of Contents	7
Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling	7
Investigating the Pathogenicity of Uncommon KRAS Mutations and Their Association with Clinicopathologic Characteristics in Patients with Colorectal Cancer	7
Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment	7
Informatics Powering Data to Shape the Future of Molecular Pathology	7
Sequential Approach to Improve the Molecular Classification of Childhood Acute Lymphoblastic Leukemia	6
Cost-Effective Cas9-Mediated Targeted Sequencing of Spinocerebellar Ataxia Repeat Expansions	6
Editorial Board	6
NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing	6
Production and Performance Assessment of a Severe Acute Respiratory Syndrome Coronavirus 2 Biomimetic in a Verification Program for Pandemic Readiness	6
Next-Generation Sequencing–Based Genomic Profiling of Children with Acute Myeloid Leukemia	6
The Era of Molecular Hematopathology	6
Diagnostic Utility of Expression Imbalance in the Idylla GeneFusion Assay for Non–Small-Cell Lung Cancer	6
Disclosure Statement	6
Abstracts of the AMP Europe 2024 Congress	6
CANTRK	6