Latest Research in Genomics and Rare Diseases

Top Research Topics in Genomics and Rare Diseases

• Genomics and Rare Diseases — 3 papers
• Chronic Kidney Disease and Diabetes — 1 papers
• Genomics — 1 papers
• Fibromyalgia and Chronic Fatigue Syndrome Research — 1 papers
• Amyotrophic Lateral Sclerosis Research — 1 papers
• Mitochondrial Function and Pathology — 1 papers
• Craniofacial Disorders and Treatments — 1 papers
• Adrenal and Paraganglionic Tumors — 1 papers
• Intracranial Aneurysms: Treatment and Complications — 1 papers
• Sodium Intake and Health — 1 papers

Highest-Cited Papers

1. New iPSC resource with long-read whole genome sequencing characterizations for enhanced in vitro modeling (1 citations)
2. The GPCRVP score reliably predicts the impact of GLP1R human variants on receptor function
3. Moesin emerges as a potential exploratory biomarker associated with renal fibrosis in diabetic kidney disease
4. Democratizing Clinical Tumor Whole Genome Sequencing: 18-hour End-to-end Analysis via Trillion-parameter Large Language Models Locally Deployed on Consumer-grade Hardware
5. Toward rapid molecular profiling of fibromyalgia: an exploratory study integrating vibrational spectroscopy and metabolomics
6. Tibialis Cranialis Extrafusal and Intrafusal Myofibers and Muscle Spindle Pathology in Canine Degenerative Myelopathy
7. Comprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease
8. Comparative Transcriptomics Reveals Shared Downstream Pathways in Craniofacial Pathology
9. Minigene-based characterization and classification of splice-associated variants in succinate dehydrogenase B
10. Multi‐Omics Genome‐Wide to Explore the Formation and Development Targets for Intracranial Aneurysms
11. MissenseHMM: state-based annotations for missense variants through joint modeling of pathogenicity scores
12. VariantLLM: An Open-Source Foundation Model Microservice for Zero-Shot Clinical Variant Effect Prediction
13. Ramipril and Olmesartan: Unveiling their pleiotropic potential as immunomodulators
14. Correlation of serum miRNA-346 and low-density lipoprotein receptor-related protein 6 protein levels with coronary atherosclerotic heart disease
15. Deep mutational scanning of CYP2C9, CYP2C19, and NUDT15 shows that pharmacogene variant interpretation requires assay-specific functional data
16. Serum metabolic signatures associated with maximal voluntary ventilation in native high-altitude Tibetans