Latest Research in Connective Tissue Genomics

Top Research Topics in Connective Tissue Genomics

• Connective tissue disorders research — 9 papers
• Genomics and Rare Diseases — 8 papers
• Genetic Neurodegenerative Diseases — 5 papers
• Hearing, Cochlea, Tinnitus, Genetics — 5 papers
• Cardiomyopathy and Myosin Studies — 4 papers
• Ion channel regulation and function — 4 papers
• Lysosomal Storage Disorders Research — 4 papers
• Genetic Syndromes and Imprinting — 3 papers
• Mitochondrial Function and Pathology — 3 papers
• Muscle Physiology and Disorders — 3 papers

Highest-Cited Papers

1. Desmoplakin-Related Arrhythmogenic Cardiomyopathy Carriers and Desmosomal-Type Acantholysis: A Previous Description of the Keratinocyte “Fingerprint Sign”. Comment on Metze et al. Desmosomal-Type Acantholysis—A New Histologic Pattern Related to Mutat (1 citations)
2. Tangier Disease
3. A novel JAG1 variant causing familial Alagille syndrome
4. Autosomal Dominant Cutis Laxa type 3 in a Lebanese female child: a case report and literature review about an exceptionally rare genetic disease
5. Benign enlargement of the subarachnoid space with transient intracranial hypertension in Marfan syndrome carrying a novel FBN1 variant
6. Integrated multi-omics decodes the AKI-to-CKD transition: from ensemble discovery to structure-guided translational targeting
7. First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant
8. Interplay between fibroblast growth factor 9 (FGF9) and CD44 underlies 46,XY disorders of sex development in Kruppel‐like factor 1 (KLF‐1)‐E325K‐associated congenital dyserythropoietic anaemia (CDA‐IV)
9. Genome sequencing improves diagnostic outcomes over panel and exome sequencings in myopathies: findings from the French PFMG2025 initiative
10. Late onset biotinidase deficiency presenting with optic neuropathy and multifocal motor neuropathy phenotype: a case report and literature review
11. In search of past genetics
12. Moebius‐Plus Phenotype With Positive RCEM Episignature May Indicate Broader Embryologic Malformation Spectrum Detectable by Methylation Profiling
13. L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10
14. Novel Compound-Heterozygous Variants in PYCR1 Expand the Variant Spectrum of Autosomal Recessive Cutis Laxa
15. A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy
16. Development and validation of a multiplex targeted PCR-sequencing assay for opioid pharmacogenes genotyping
17. Genotype-first analysis redefines autosomal dominant LZTR1-related disorders susceptibility architecture
18. The molecular landscape of hypertrophic cardiomyopathy across disease stages and genotypes
19. Natural Missplicing Events Amplified by an Elusive Deep-Intronic MYBPC3 Variant Cause Hypertrophic Cardiomyopathy
20. Plasma autoantibodies as novel risk markers for stroke: A nested case-control study of the JPHC study

Sub-Regions

• Hearing, Cochlea, Tinnitus, Genetics — 35 papers
• Lysosomal Storage Disorders Research — 34 papers
• Genetic Syndromes and Imprinting — 21 papers
• Genomics and Rare Diseases — 17 papers
• Genetic Neurodegenerative Diseases — 13 papers
• Pectus Deformity Diagnosis and Treatment — 4 papers