Latest Research in Molecular Mechanistic Diagnostics

Top Research Topics in Molecular Mechanistic Diagnostics

• Genomics and Rare Diseases — 8 papers
• MicroRNA in disease regulation — 4 papers
• Mitochondrial Function and Pathology — 4 papers
• Multiple Sclerosis Research Studies — 4 papers
• Metabolomics and Mass Spectrometry Studies — 3 papers
• Pulmonary Hypertension Research and Treatments — 3 papers
• Liver Disease Diagnosis and Treatment — 3 papers
• Cerebrospinal fluid and hydrocephalus — 3 papers
• Sepsis Diagnosis and Treatment — 3 papers
• Fatty Acid Research and Health — 2 papers

Highest-Cited Papers

1. Hunting for microsatellite instability in long-read data with Owl (2 citations)
2. Why variant effect predictors and multiplexed assays agree and disagree (4 citations)
3. Lifelong Genetic Inhibition of PCSK9 and Hepatic Safety (1 citations)
4. Fatty Acid and Oxylipin Metabolism Differentiate Isolated Postcapillary From Combined Pre- and Postcapillary Pulmonary Hypertension (1 citations)
5. New iPSC resource with long-read whole genome sequencing characterizations for enhanced in vitro modeling (1 citations)
6. MicroRNA-122 as a regulator and biomarker of liver disease
7. Pathophysiological insights into ACO2-related inherited disorders through combined functional and multi-omic analyses of ACO2 patient-derived fibroblasts
8. Keyora Antarctic Krill Oil EP-14: The Persistent Inflammation-Resolution Matrix: Phospholipid Omega-3 Across Metabolic-Adipose Inflammation, Resolution Biology, Vascular Residual Risk, and Response-Guided Escalation
9. Knock-in of a filaminopathy variant into Flna causes transient alterations in skeletal development but not a progressive skeletal phenotype in mice
10. Re‐evaluating variability of circulating miR‐122 in healthy volunteers: Implications for biomarker qualification in drug‐induced liver injury
11. CRISPR therapy for dyslipidemia
12. Keyora Antarctic Krill Oil EP-14: The Persistent Inflammation-Resolution Matrix: Phospholipid Omega-3 Across Metabolic-Adipose Inflammation, Resolution Biology, Vascular Residual Risk, and Response-Guided Escalation
13. A yeast model for the functional analysis of SRP54 mutations associated with severe congenital neutropenia
14. The GPCRVP score reliably predicts the impact of GLP1R human variants on receptor function
15. Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome
16. Generation of two human induced pluripotent stem cell lines from patients with hypokalemic periodic paralysis
17. Integrated Multi-Tissue Omics Identifies Acylcarnitine Accumulation as Shared Metabolic Marker of Diabetic Microangiopathy With Cross-Organ Validation
18. Non-coding regulatory variants in adolescent idiopathic scoliosis risk and pathogenesis
19. Dynamic Changes of Neutrophil Nuclear Membrane CD63 as a Potential Biomarker for Early Adjunctive Diagnosis and Prognostic Evaluation of Sepsis in Critically Ill Patients: A Prospective Cohort Study
20. Proteogenomic Profiling of Idiopathic Pulmonary Arterial Hypertension Identifies Sex‐Differential Proteins and Candidate Therapeutic Targets

Sub-Regions

• Parathyroid Disorders and Treatments — 23 papers
• Cerebrospinal fluid and hydrocephalus — 21 papers
• Genomics and Rare Diseases — 16 papers
• Metabolomics and Mass Spectrometry Studies — 16 papers
• Blood disorders and treatments — 11 papers
• Mitochondrial Function and Pathology — 5 papers