Associated Papers
Natural history and phenotype-genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review.
Chen L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026
GJB2 c.109G > A mutation activating IFI27-mediated mitochondrial apoptosis pathway leading to hereditary non-syndromic hearing loss.
Chen Y et al.
Scientific Reports, 2026
Genetic screening for hearing impairment and the genotype-phenotype correlation of GJB2 c.109G>A variants in 47,729 neonates: a population-based study in southern China.
Li J et al.
International Journal of Pediatric Otorhinolaryngology, 2026
Spectrum of DNA Variants Underlying Deafness in an Ecuadorian Cohort.
Reinoso-Castillo A et al.
Biochemical Genetics, 2026
GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.
Morris JA et al.
International Journal of Molecular Sciences, 2026
Multidimensional analysis of screening results of deafness susceptibility genes in 3066 newborns of different altitudes and nationalities in Xining, Qinghai(ISRCTN89197487).
Ren B et al.
Plos One, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Genotype Characteristics and Hearing Phenotype Analysis of Newborns with Biallelic GJB2 Mutations: A 652-Case-Cohort Study.
Li J et al.
International Journal of Neonatal Screening, 2025
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of Medicine, 2025
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.
Kang H et al.
European Journal of Human Genetics : Ejhg, 2025
Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population.
Kraatari-Tiri M et al.
International Journal of Audiology, 2025
PAM-flexible adenine base editing rescues hearing loss in a humanized MPZL2 mouse model harboring an East Asian founder mutation.
Hu SW et al.
Nature Communications, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
Comparison of clinical performance of MeltPro hearing loss assay and targeted next generation sequencing assay for genetic screening of hearing loss.
Wang X et al.
Scientific Reports, 2025
First report of an Ivorian family with nonsyndromic hearing loss caused by GJB2 compound heterozygous variants.
Toure M et al.
Annals of Human Genetics, 2025
Connexin 30 (GJB6) deletion as a cause of a false positive sweat test result.
Rossell A et al.
European Journal of Pediatrics, 2025
Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.
Fehrmann MLA et al.
Journal of the Association for Research in Otolaryngology : Jaro, 2025
Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years.
Kernohan KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Mutation spectrum of GJB2, SLC26A4 and mtDNA12SrRNA genes in non-syndromic hearing loss patients from Gansu, China.
Duan S et al.
International Journal of Pediatric Otorhinolaryngology, 2025
Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.
Ozgur Z et al.
International Journal of Pediatric Otorhinolaryngology, 2025
Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimester.
Li H et al.
Orphanet Journal of Rare Diseases, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.
Yalcouyé A et al.
Hgg Advances, 2025
Clinical utility of exome sequencing in hearing loss: a retrospective cohort study.
Liu C et al.
Frontiers in Genetics, 2025
Common genetic etiologies of sensorineural hearing loss in Koreans.
Jang SH et al.
Genomics & Informatics, 2024
Genetic screening of newborns for deafness over 11 years in Beijing, China: More infants could benefit from an expanded program.
Ruan Y et al.
Bioscience Trends, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Variants in Genes Associated with Hearing Loss in Children: Prevalence in a Large Canadian Cohort.
Wener ER et al.
The Laryngoscope, 2024
Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss.
Zhuri D et al.
The Journal of International Advanced Otology, 2024
Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss.
Namba K et al.
Bmc Research Notes, 2024
Clinical and genetic architecture of a large cohort with auditory neuropathy.
Wang H et al.
Human Genetics, 2024
The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.
Alkhidir S et al.
Scientific Reports, 2024
[Distribution characteristics and correlation analysis of GJB2 variation in patients with auditory neuropathy].
Li Y et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2024
Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population.
El Fizazi K et al.
Audiology & Neuro-otology, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Hearing and Hearing Loss Progression in Patients with GJB2 Gene Mutations: A Long-Term Follow-Up.
Sakata A et al.
International Journal of Molecular Sciences, 2023
Genotypic and Allelic Frequencies of GJB2 Variants and Features of Hearing Phenotypes in the Chinese Population of the Dongfeng-Tongji Cohort.
Yuan L et al.
Genes, 2023
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.
Posukh OL et al.
Biomolecules, 2023
Gene Screening for Non-Syndromic Deafness in Hainanese Patients.
Fu Y et al.
The Journal of International Advanced Otology, 2023