Journal of Molecular Diagnostics

Papers
(The H4-Index of Journal of Molecular Diagnostics is 25. 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 2021-08-01 to 2025-08-01.)
ArticleCitations
Editorial Board125
Instructions to Authors81
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors61
Correction57
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 DNA43
Considerations for Severe Acute Respiratory Syndrome Coronavirus 2 Genomic Surveillance42
Editorial Board41
Editorial Board40
Neurotrophin Receptor Kinase40
Table of Contents40
The Molecular Genetic Pathology Fellowship Curriculum39
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 Cycle37
Evaluating Discordant Somatic Calls Across Mutation Discovery Approaches to Minimize False-Negative Drug-Resistant Findings32
Morphological Bone Score as a Predictive Tool for Molecular Profiling Success31
Validation of Human Papillomavirus Genotyping by Oxford Nanopore Sequencing in Formalin-Fixed, Paraffin-Embedded Tissues and ThinPrep Anal and Gynecologic Samples30
Transcriptome Analysis Identifies GATA3-AS1 as a Long Noncoding RNA Associated with Resistance to Neoadjuvant Chemotherapy in Locally Advanced Breast Cancer Patients29
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia28
miRNAs as Molecular Biomarkers for Prostate Cancer28
Diagnostic Utility of Gene Fusion Panel to Detect Gene Fusions in Fresh and Formalin-Fixed, Paraffin-Embedded Cancer Specimens27
Evaluating the Clinical Performance of a Dual-Target Stool DNA Test for Colorectal Cancer Detection27
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors27
Salivary High-Risk Human Papillomavirus (HPV) DNA as a Biomarker for HPV-Driven Head and Neck Cancers26
A Novel and Comprehensive Whole-Genome Sequencing–Based Preimplantation Genetic Testing Approach for Different Genetic Conditions26
Editorial Board26
Clinical Accuracy of Alinity m HR HPV Assay on Self- versus Clinician-Taken Samples Using the VALHUDES Protocol25
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent25
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
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