Molecular Diagnosis & Therapy

Papers
(The TQCC of Molecular Diagnosis & Therapy is 9. 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 2021-03-01 to 2025-03-01.)
ArticleCitations
Acute Fluid Biomarkers for Diagnosis and Prognosis in Children with Mild Traumatic Brain Injury: A Systematic Review106
Evaluating Infectious, Neoplastic, Immunological, and Degenerative Diseases of the Central Nervous System with Cerebrospinal Fluid-Based Next-Generation Sequencing61
The Opportunities and Challenges of Molecular Tagging Next-Generation Sequencing in Liquid Biopsy54
Evaluation of the Suitability of RNAscope as a Technique to Measure Gene Expression in Clinical Diagnostics: A Systematic Review47
Validation of HER2 Status in Whole Genome Sequencing Data of Breast Cancers with the Ploidy-Corrected Copy Number Approach46
RNA Sequencing Data from Human Intracranial Aneurysm Tissue Reveals a Complex Inflammatory Environment Associated with Rupture44
Achromatopsia: Genetics and Gene Therapy42
Diagnostic Accuracy of Two Molecular Tools for Diagnosis of Congenital Chagas Disease40
Commercial ctDNA Assays for Minimal Residual Disease Detection of Solid Tumors38
The Road Traveled and Journey Ahead for the Genetics and Genomics of Tinnitus35
Single Nucleotide Variants in KIF14 Gene May Have Prognostic Value in Breast Cancer34
Candidate MicroRNA Biomarkers in Lupus Nephritis: A Meta-analysis of Profiling Studies in Kidney, Blood and Urine Samples33
Targeting Genetic Modifiers of HBG Gene Expression in Sickle Cell Disease: The miRNA Option32
Genetic Alterations of Melanoma Brain Metastases: A Systematic Review and Meta-Analysis30
Pitfalls in Cutaneous Melanoma Diagnosis and the Need for New Reliable Markers28
Single-Cell Sequencing in Neurodegenerative Disorders26
The Diagnostic and Prognostic Value of miR-155 in Cancers: An Updated Meta-analysis24
Predictive Ability of Serum Amino Acid Levels to Differentiate Fibromyalgia Patients from Healthy Subjects23
ADORA3: A Key Player in the Pathogenesis of Intracranial Aneurysms and a Potential Diagnostic Biomarker22
Identification of Plasmatic MicroRNA-206 as New Predictor of Early Recurrence of Atrial Fibrillation After Catheter Ablation Using Next-generation Sequencing22
The Complement System and C4b-Binding Protein: A Focus on the Promise of C4BPα as a Biomarker to Predict Clopidogrel Resistance21
Decoding Molecular Mechanisms Underlying Outcomes After Ischemic Stroke Thrombectomy by RNA Sequencing of Retrieved Clots20
Multicenter Performance Evaluation of the Revogene® GBS DS Real-Time PCR Assay for Group B Streptococcus Detection During Labor20
Beyond Death: Unmasking the Intricacies of Apoptosis Escape18
Diagnostic Approaches to Investigate JAK2-Unmutated Erythrocytosis Based on a Single Tertiary Center Experience18
Performance of a Rapid Digital PCR Test for the Detection of Non-Small Cell Lung Cancer (NSCLC) Variants17
Targeted Therapy in Salivary Gland Cancer: Prevalence of a Selected Panel of Actionable Molecular Alterations in a German Tertiary Referral Center Patient Cohort17
In vivo LNP-CRISPR Approaches for the Treatment of Hemophilia17
Evaluation of the Oncomine Comprehensive Assay Plus NGS Panel and the OncoScan CNV Assay for Homologous Recombination Deficiency Detection17
MicroRNA-146a Signature in Psoriasis: A Systematic Review and Meta-Analysis17
Correction to: System-Wide Pollution of Biomedical Data: Consequence of the Search for Hub Genes of Hepatocellular Carcinoma Without Spatiotemporal Consideration16
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center’s Experience Over 5 Years16
Omidubicel: First Approval15
Analytical and Clinical Performance of Droplet Digital PCR in the Detection and Quantification of SARS-CoV-215
Lutetium Lu 177 Vipivotide Tetraxetan: First Approval15
Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China15
Metastasis Prevention: Focus on Metastatic Circulating Tumor Cells13
Detecting ALK Rearrangement with RT-PCR: A Reliable Approach Compared with Next-Generation Sequencing in Patients with NSCLC13
The Role of [18F]F-FDG PET/CT for Predicting Histology and Prognosis in Patients with Thymic Lesions13
Real-World Evidence of the Prevalence of Driver Mutations in Anorectal Melanoma13
Internal Standardization of the Interpretation and Reporting of Sequence Variants in Hematologic Neoplasms12
IDH Inhibitors and Beyond: The Cornerstone of Targeted Glioma Treatment11
Targeting Mutated KRAS Genes to Treat Solid Tumours11
Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date11
Longitudinal Relationship between Idylla Plasma ctBRAF V600 Mutation Detection and Tumor Burden in Patients with Metastatic Melanoma11
Current and Emerging Clinical Treatment in Mitochondrial Disease11
Biomarkers for Nonexudative Age-Related Macular Degeneration and Relevance for Clinical Trials: A Systematic Review11
Cardiovascular Pharmacogenomics: An Update on Clinical Studies of Antithrombotic Drugs in Brazilian Patients11
Proclarix, A New Biomarker for the Diagnosis of Clinically Significant Prostate Cancer: A Systematic Review11
Prognostic Biomarker-Based Identification of Drugs for Managing the Treatment of Endometrial Cancer11
Worldwide Prevalence of Epidermal Growth Factor Receptor Mutations in Non-Small Cell Lung Cancer: A Meta-Analysis11
Preimplantation Genetic Testing for Monogenic Conditions: Is Cell-Free DNA Testing the Next Step?10
Follicular T Helper and Breg Cell Balance in Severe Allergic Asthma Before and After Omalizumab Therapy10
The Value of Pharmacogenetics to Reduce Drug-Related Toxicity in Cancer Patients10
Gene Therapy for Cardiomyocyte Renewal: Cell Cycle, a Potential Therapeutic Target9
Epidermolysis Bullosa: A Review of the Tissue-Engineered Skin Substitutes Used to Treat Wounds9
A Window of Opportunity for Newborn Screening9
Indirect Clinical Validation of a Programmed Death-Ligand 1 Laboratory-Developed Test for Gastric/Gastroesophageal Junction Adenocarcinoma with 22C3 Antibody Concentrate9
Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing9
Digital PCR-Based Method for Detecting CDKN2A Loss in Brain Tumours9
Prognostic Value of Programmed Death Ligand-1 Expression in Solid Tumors Irrespective of Immunotherapy Exposure: A Systematic Review and Meta-Analysis9
Personalized Cancer Monitoring Assay for the Detection of ctDNA in Patients with Solid Tumors9
Prognostic and Clinical Significance of Human Leukocyte Antigen Class I Expression in Breast Cancer: A Meta-Analysis9
Immune-Checkpoint Expression on CD4, CD8 and NK Cells in Blood, Bronchoalveolar Lavage and Lymph Nodes of Sarcoidosis9
Biomarker Determinants of Early Anthracycline-Induced Left Ventricular Dysfunction in Breast Cancer: A Systematic Review and Meta-Analysis9
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