Latest Research in Connective tissue disorders research

Top Research Topics in Connective tissue disorders research

• Connective tissue disorders research — 5 papers
• Cystic Fibrosis Research Advances — 3 papers
• Multiple Sclerosis Research Studies — 2 papers
• Congenital heart defects research — 2 papers
• Pediatric Hepatobiliary Diseases and Treatments — 1 papers
• Single-cell and spatial transcriptomics — 1 papers
• Genetic Associations and Epidemiology — 1 papers
• Genetic and rare skin diseases. — 1 papers
• Pericarditis and Cardiac Tamponade — 1 papers
• Alkaline Phosphatase Research Studies — 1 papers

Highest-Cited Papers

1. A novel JAG1 variant causing familial Alagille syndrome
2. Integrated multi-omics decodes the AKI-to-CKD transition: from ensemble discovery to structure-guided translational targeting
3. Identifying shared polygenic risk across cancers
4. FBN1-related connective tissue disorders: unraveling cardiovascular, skeletal, and ocular complications through TGF-β signaling dysregulation and genotypic correlations
5. Concomitant PLACK Syndrome, MYBPC3 ‐Related Cardiomyopathy, and Nutritional Deficiency
6. Genetic Evidence for a Putative B Cell–Cholate Immunometabolic Axis in Pericarditis: A Mendelian Randomization Study
7. De novo start-loss mutation in PHYKPL associated with a novel sclerosing and fibro-osseous bone dysplasia
8. Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study
9. The predictive value of serum neurofilament light chain levels beyond MRI measures for clinical and radiological disease progression in the earliest stages of multiple sclerosis
10. Association Between Neurofilament Light Chain and Real‐World Ambulatory Function in Progressive MS
11. A Tarui Disease Phenotype with Compensated Hemolysis and a Homozygous PFKM Variant of Uncertain Significance Mimicking Chronic Myelomonocytic Leukemia
12. Colony‐stimulating factor 1 receptor‐related disorder: Clinical variability of biallelic variants
13. Pulmonary exacerbations in primary ciliary dyskinesia
14. The Evaluation of Molecular Genetics and Clinical Manifestations in Patients With LZTR1 ‐Associated Noonan Syndrome: A Retrospective Chart Review and Review of Literature
15. Expanding the Clinical and Genetic Spectrum of Schmid Metaphyseal Chondrodysplasia: A Seven‐Patient Series Including a Rare Homozygous COL10A1 Case
16. Filamin B (FLNB)-Related Spondylocarpotarsal Synostosis Syndrome: Systematic Literature Review and Novel Case Report
17. An exploratory genomic landscape of unicuspid aortic valve
18. Hepatocyte Growth Factor in Children of Primary Ciliary Dyskinesia and Its Relation to Disease Severity. A case-control study.
19. Combined 31P and 1H MRS show that impaired muscle O2 supply limits ATP synthesis during exercise in systemic sclerosis
20. Third Patient With Biallelic Variants in SMAD6 With an Overlapping Phenotype: Developmental Delays, Dysmorphic Features, and Cardiovascular Abnormalities