Latest Research in Genomics and Rare Diseases

Top Research Topics in Genomics and Rare Diseases

• Genomics and Rare Diseases — 3 papers
• Liver Disease Diagnosis and Treatment — 2 papers
• Cardiovascular Disease and Adiposity — 1 papers
• Metabolism and Genetic Disorders — 1 papers
• Ovarian function and disorders — 1 papers
• Drug-Induced Hepatotoxicity and Protection — 1 papers
• Cystic Fibrosis Research Advances — 1 papers
• Genomics and Phylogenetic Studies — 1 papers
• Cancer, Hypoxia, and Metabolism — 1 papers
• Metabolomics and Mass Spectrometry Studies — 1 papers

Highest-Cited Papers

1. Sex-Specific Mechanisms of Perivascular Adipose Tissue (PVAT) Dysfunction in Prediabetes and Diabetes: From Metabolic Crosstalk to Vascular Outcomes
2. Role of the Gut–Liver–Kidney Axis in Disease Manifestation and Biomarker Alterations
3. Shared genetic architecture between PMOS and MASLD: a transcriptome-wide association study prioritizes candidate hepatic genes
4. Hepatic disorders: current insights, therapeutic challenges, and the role of hepatoprotective flora from North Maharashtra
5. Structural and functional impact of cystic fibrosis on endocrine pancreatic innervation
6. A little longer, a lot better: simulation-guided exploration of extended-length single-end barcoded reads for structural variant detection
7. The CYB5R3–mARC1 Redox Axis in Metabolic Dysfunction-associated Steatotic Liver Disease: Mechanistic Basis and Therapeutic Prospects across the Steatosis–Cirrhosis–Hepatocellular Carcinoma Spectrum
8. Metabolic Signatures Associated with COVID-19 Vaccination in Serum from Healthy Individuals
9. Dried Blood Spot-Based Quantification Indicates Correlation Between lncRNA GAS5, Diabetes, Age, and War Eras in US Veterans
10. ECHO: a nanopore sequencing-based workflow for (epi)genetic profiling of the human repeatome
11. Resolving missing human polymorphic inversions and other complex variants from ultra-long read data
12. Lipid Metabolic Reprogramming and Bioactive Lipid Signaling in MASLD: Molecular Mechanisms, Pathogenesis and Therapeutic Opportunities
13. A novel human 3D steatohepatitis model recapitulating disease progression for evaluating the efficacy and mechanism of action of MASH therapeutics
14. Kcna3 Deficiency Promotes Renin-Associated Hypertension Through Ca2+-Dependent AKT–PKA–CREB Signaling
15. RefFree-Phaser: a reference-free transformer-based framework for genotype phasing
16. Protocol for haplotype-resolved structural variant detection via long-read sequencing using cuteHap
17. Cheaper by the Batch: Shared Traversal for Genotype Graph Editing
18. VCF Validation Through Structural, Reference, and Genotype Checks: A Layered Approach to Variant Call Format Quality Control
19. VCF Validation Through Structural, Reference, and Genotype Checks: A Layered Approach to Variant Call Format Quality Control
20. The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome