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
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
A Novel 1259 bp Intragenic Deletion in the GJB2 Gene in a Mexican Family with Congenital Profound Hearing Loss.
Oaxaca-Castillo D et al.
Audiology Research, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson RJ et al.
Jama Otolaryngology-- Head & Neck Surgery, 2023
Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.
Aboagye ET et al.
Genes, 2023
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL et al.
Genes, 2022
GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal.
Dia Y et al.
Biology, 2022
Genetic etiology of non-syndromic hearing loss in Latin America.
Lezirovitz K et al.
Human Genetics, 2022
Congenital hearing loss: a literature review of the genetic etiology in a Mexican population.
Torre-González C et al.
Boletin Medico Del Hospital Infantil De Mexico, 2022
Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients.
Le Nabec A et al.
Genes, 2021
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.
Adadey SM et al.
Life (basel, Switzerland), 2020
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect.
Zytsar MV et al.
Genes, 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
Unique Mutational Spectrum of the GJB2 Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys).
Posukh OL et al.
Genes, 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
GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana.
Adadey SM et al.
Frontiers in Genetics, 2019
Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.
Mittal R et al.
Gene, 2018
A Mayan founder mutation is a common cause of deafness in Guatemala.
Carranza C et al.
Clinical Genetics, 2016
Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss.
Martínez-Saucedo M et al.
International Journal of Pediatric Otorhinolaryngology, 2015
Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations.
King PJ et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2012
Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.
Lipan M et al.
The Laryngoscope, 2011
Comprehensive diagnostic battery for evaluating sensorineural hearing loss in children.
Lin JW et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2011
Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity.
Angeli SI
The Laryngoscope, 2008
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
Putcha GV et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
Tang HY et al.
American Journal of Medical Genetics. Part A, 2006
Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.
Gardner P et al.
Pediatrics, 2006
Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program.
Propst EJ et al.
International Journal of Pediatric Otorhinolaryngology, 2006
Guidelines and recommendations for testing of Cx26 mutations and interpretation of results.
Mazzoli M et al.
International Journal of Pediatric Otorhinolaryngology, 2004
Molecular epidemiology of DFNB1 deafness in France.
Roux AF et al.
Bmc Medical Genetics, 2004
First report of prenatal diagnosis of genetic congenital deafness in a routine prenatal genetic test.
Santoro ML et al.
Prenatal Diagnosis, 2003
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.
Ferraris A et al.
Human Mutation, 2002
Connexin mutations in hearing loss, dermatological and neurological disorders.
Rabionet R et al.
Trends in Molecular Medicine, 2002
Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).
Prasad S et al.
Human Mutation, 2000
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.
Rabionet R et al.
Human Mutation, 2000
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
Kenneson A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Erratum: GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana.
Unknown Author
Frontiers in Genetics, 0