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 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
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