Associated Papers
GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.
Morris JA et al.
International Journal of Molecular Sciences, 2026
The Importance of Newborn Genetic Screening for Early Identification of GJB2 and SLC26A4 Related Hearing Loss.
Wener ER et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2025
The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates.
Kriukelis R et al.
European Journal of Human Genetics : Ejhg, 2025
Implementing next-generation sequencing for diagnosis and management of hereditary hearing impairment: a comprehensive review.
Tsai CY et al.
Expert Review of Molecular Diagnostics, 2024
The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in mice.
Li Q et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis.
Aliazami F et al.
International Journal of Pediatric Otorhinolaryngology, 2023
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL et al.
Genes, 2022
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 2022
Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults.
Corriols-Noval P et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2022
Predictors of Early Language Outcomes in Children with Connexin 26 Hearing Loss across Three Countries.
Holzinger D et al.
Children (basel, Switzerland), 2022
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I et al.
Human Genetics, 2022
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.
Ray M et al.
Journal of Pediatric Genetics, 2022
Variant analysis of 92 Chinese Han families with hearing loss.
Jin X et al.
Bmc Medical Genomics, 2022
GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.
Abbaspour Rodbaneh E et al.
Journal of Clinical Laboratory Analysis, 2021
Prevalence of GJB2 gene mutations correlated to presence of clinical and environmental risk factors in the etiology of congenital sensorineural hearing loss of the Romanian population.
Neagu A et al.
Experimental and Therapeutic Medicine, 2021
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
García-García G et al.
Genes, 2020
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.
Buonfiglio P et al.
Genes, 2020
Etiological Work-up in Referrals From Neonatal Hearing Screening: 20 Years of Experience.
Boudewyns A et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020
GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations.
Koohiyan M et al.
Annals of Human Genetics, 2020
Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews.
Falah M et al.
Fetal and Pediatric Pathology, 2020
Systematic Review of Pathogenic GJB2 Variants in the Latino Population.
Bouzaher MH et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020
Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
Yu X et al.
Orphanet Journal of Rare Diseases, 2020
The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas.
Küçük Kurtulgan H et al.
The Journal of International Advanced Otology, 2019
Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations.
Koohiyan M et al.
Journal of Audiology & Otology, 2019
First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.
Özyılmaz B et al.
Turkish Archives of Otorhinolaryngology, 2019
Genetics of hereditary hearing loss in east Iran population: A systematic review of GJB2 mutations.
Koohiyan M et al.
Intractable & Rare Diseases Research, 2019
Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran.
Naddafnia H et al.
Molecular Genetics & Genomic Medicine, 2019
Systematic Review of Hearing Loss Genes in the African American Population.
Worden CP et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
Chen K et al.
Journal of Clinical Laboratory Analysis, 2018
Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia.
Plevova P et al.
Medicina (kaunas, Lithuania), 2018
GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.
Koohiyan M et al.
International Journal of Pediatric Otorhinolaryngology, 2018
Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.
Sampaio-Silva J et al.
Annals of Human Genetics, 2018
GJB2 mutations: Genotypic and phenotypic correlation in a cohort of 690 hearing-impaired patients, toward a new mutation?
Leclère JC et al.
International Journal of Pediatric Otorhinolaryngology, 2017
The genetic basis of deafness in populations of African descent.
Rudman JR et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2017
First report of prevalence c.IVS1+1G>A and del (GJB6-13S1854) mutations in Syrian families with non-syndromic sensorineural hearing loss.
Al-Achkar W et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Molecular study of patients with auditory neuropathy.
Carvalho GM et al.
Molecular Medicine Reports, 2016
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
Mikstiene V et al.
Bmc Genetics, 2016
Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic).
Barashkov NA et al.
Plos One, 2016
GJB2 c.-23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss.
Zeinali S et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2015
Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.
Amorini M et al.
Annals of Human Genetics, 2015
A genotype-phenotype correlation in Sicilian patients with GJB2 biallelic mutations.
Martines F et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2015
Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.
Kashef A et al.
International Journal of Pediatric Otorhinolaryngology, 2015
Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.
Haraksingh RR et al.
Bmc Genomics, 2014
New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation.
Stanghellini I et al.
Genetic Testing and Molecular Biomarkers, 2014
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss.
Salvago P et al.
International Journal of Audiology, 2014
Analysis of the presence of the GJB6 mutations in patients heterozygous for GJB2 mutation in Brazil.
Esteves MC et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2014
Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.
Du W et al.
Acta Oto-laryngologica, 2014