Associated Papers
Analyses of GJB2 status in hereditary and non-syndromic hearing loss cases in Turkey reveal pathogenicity of rare c.247_249delTTC variant.
Tümer S et al.
International Journal of Pediatric Otorhinolaryngology, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Riahi Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.
Ozgur Z et al.
International Journal of Pediatric Otorhinolaryngology, 2025
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Fioretti T et al.
Biomedicines, 2024
Clinical and genetic architecture of a large cohort with auditory neuropathy.
Wang H et al.
Human Genetics, 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
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 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
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson RJ et al.
Jama Otolaryngology-- Head & Neck Surgery, 2023
Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania.
Petrova N et al.
Peerj, 2023
Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.
Vallian Broojeni J et al.
Plos One, 2023
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL et al.
Genes, 2022
Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss.
Markova T et al.
Journal of Personalized Medicine, 2022
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Sotnikova EA et al.
Journal of Personalized Medicine, 2022
Genetic etiology of non-syndromic hearing loss in Latin America.
Lezirovitz K et al.
Human Genetics, 2022
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.
Ray M et al.
Journal of Pediatric Genetics, 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
Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan.
Kausar N et al.
Plos One, 2021
Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population.
Morgan A et al.
Genes, 2020
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.
Buonfiglio P et al.
Genes, 2020
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
Kiseleva AV et al.
Journal of Personalized Medicine, 2020
Development of in-house genetic screening for pediatric hearing loss.
Doerfer KW et al.
Laryngoscope Investigative Otolaryngology, 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
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for GJB2 Mutations.
Koohiyan M et al.
Iranian Journal of Public Health, 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
Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.
Xiang YB et al.
International Journal of Pediatric Otorhinolaryngology, 2019
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
Application of next‑generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss.
Lechowicz U et al.
Molecular Medicine Reports, 2018
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
Baux D et al.
Scientific Reports, 2017
Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.
Bliznetz EA et al.
Journal of Human Genetics, 2017
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
Ghasemnejad T et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen CM et al.
Human Genetics, 2016
Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients.
Burke WF et al.
Hearing Research, 2016
Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.
Zhang F et al.
Biomed Research International, 2016
Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.
Beck C 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
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
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
[The mutation spectrum of the GJB2 gene in Belarussian patients with hearing loss. Results of pilot genetic screening of hearing impairment in newborns].
Bliznets EA et al.
Genetika, 2014
Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases.
Dalamón V et al.
Molecular Biology Reports, 2013
Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.
Matos TD et al.
International Journal of Audiology, 2013