Latest Research in Hearing, Cochlea, Tinnitus, Genetics

Top Research Topics in Hearing, Cochlea, Tinnitus, Genetics

• Hearing, Cochlea, Tinnitus, Genetics — 5 papers
• Connective tissue disorders research — 4 papers
• Ion channel regulation and function — 3 papers
• Genomic variations and chromosomal abnormalities — 2 papers
• Muscle Physiology and Disorders — 2 papers
• Congenital heart defects research — 2 papers
• Genetic and Kidney Cyst Diseases — 1 papers
• Cleft Lip and Palate Research — 1 papers
• Kidney Stones and Urolithiasis Treatments — 1 papers
• Barrier Structure and Function Studies — 1 papers

Highest-Cited Papers

1. Autosomal Dominant Cutis Laxa type 3 in a Lebanese female child: a case report and literature review about an exceptionally rare genetic disease
2. Benign enlargement of the subarachnoid space with transient intracranial hypertension in Marfan syndrome carrying a novel FBN1 variant
3. Novel Compound-Heterozygous Variants in PYCR1 Expand the Variant Spectrum of Autosomal Recessive Cutis Laxa
4. A comprehensive overview of genetic mutations in Iranian patients with Bardet-Biedl syndrome
5. SCN4A Channelopathies: From Disease Mechanisms to Variant Interpretation
6. A Genetic Study of 66 Individuals With Syndromic Velopharyngeal Insufficiency
7. Integrated transcriptomics and machine learning identify NALCN and KCNQ1 as key ion channel genes in kidney stone pathogenesis and potential therapeutic targets
8. Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders
9. A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies
10. Special Issue “Pediatric Diseases: From Molecular Mechanisms to Novel Therapeutic Strategies”
11. Whole-body quantitative muscle MRI in myotonic dystrophy type 2: a sensitive tool for pattern recognition, disease stratification and objective assessment of clinical severity
12. Whole exome sequencing and transcript analysis of a PTEN splice-site variant in a child with PTEN hamartoma tumor syndrome: a case report
13. POU4F3 variants are prevalent in Chinese patients with autosomal dominant non-syndromic hearing loss and concurrent tinnitus
14. Circulating miR-378a-3p as a molecular biomarker in pediatric duchenne muscular dystrophy
15. Distinct genotype-phenotype patterns in non-syndromic hereditary hypotrichosis: a multicenter Chinese cohort
16. Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes
17. De Novo Facioscapulohumeral Muscular Dystrophy
18. De novo RYR1 variant c.7108_7109delinsAAGCC (p.Gly2370delinsLysPro) causes life-threatening malignant hyperthermia: reclassification from VUS to pathogenic
19. Clinical and Functional Characterization of Gain‐of‐Function ABL1 Variants Expands the Phenotypic Spectrum of CHDSKM
20. Novel truncating SF1 gene variant in a family with mild neurodevelopmental disorder: expanding the phenotype of SF1-related spliceosomopathy spectrum