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 2022-06-01 to 2026-06-01.)
ArticleCitations
Instructions to Authors74
The Molecular Genetic Pathology Fellowship Curriculum68
Editorial Board65
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia52
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors51
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 Surveillance47
Morphological Bone Score as a Predictive Tool for Molecular Profiling Success46
Next-Generation Sequencing–Based T-Cell Receptor Gene Rearrangement Analysis in Nodal T Follicular Helper Cell Lymphoma, a Comparison with the EuroClonality/BIOMED-2 Assay45
Validation of Human Papillomavirus Genotyping by Oxford Nanopore Sequencing in Formalin-Fixed, Paraffin-Embedded Tissues and ThinPrep Anal and Gynecologic Samples42
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 Cycle42
Table of Contents41
Long-Read Amplicon Sequencing for the Detection of TERT Promoter Variant Clonal Hematopoiesis in Patients with Telomere Biology Disorders40
Editorial Board39
Evaluating Discordant Somatic Calls Across Mutation Discovery Approaches to Minimize False-Negative Drug-Resistant Findings38
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY33
miRNAs as Molecular Biomarkers for Prostate Cancer31
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors29
Correction28
NTRK Gene Fusion Detection in a Pan-Cancer Setting Using the Idylla GeneFusion Assay27
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
Analytical validation of short-read genome sequencing for diagnostic panel and exome testing27
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent26
Analysis of Clinical Laboratory Detecting Challenging Variants from Exome Sequencing Using Simulated Patient–Parent Trio Sample26
Editorial Board25
0.13671088218689