Associated Papers
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 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
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson RJ et al.
Jama Otolaryngology-- Head & Neck Surgery, 2023
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL et al.
Genes, 2022
The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
Yang Y et al.
Bmc Urology, 2022
Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients.
Le Nabec A et al.
Genes, 2021
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
Baux D et al.
Scientific Reports, 2017
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
Tayoun AN et al.
Human Mutation, 2016
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
Vestibular dysfunction in DFNB1 deafness.
Dodson KM et al.
American Journal of Medical Genetics. Part A, 2011
Temporal bone abnormalities in children with GJB2 mutations.
Kenna MA et al.
The Laryngoscope, 2011
Causes of hearing impairment in the Norwegian paediatric cochlear implant program.
Siem G et al.
International Journal of Audiology, 2010
Connexin-26-associated deafness: phenotypic variability and progression of hearing loss.
Chan DK et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss.
Kenna MA et al.
Archives of Otolaryngology--head & Neck Surgery, 2010
Infrequency of two deletion mutations at the DFNB1 locus in patients and controls.
Tang HY et al.
American Journal of Medical Genetics. Part A, 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
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL et al.
American Journal of Human Genetics, 2005
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
Marlin S et al.
Archives of Otolaryngology--head & Neck Surgery, 2005
Guidelines and recommendations for testing of Cx26 mutations and interpretation of results.
Mazzoli M et al.
International Journal of Pediatric Otorhinolaryngology, 2004
Auditory perception and speech discrimination after cochlear implantation in patients with connexin 26 (GJB2) gene-related deafness.
Sinnathuray AR et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2004
Connexin 26 (GJB2) gene-related deafness and speech intelligibility after cochlear implantation.
Sinnathuray AR et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2004
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
Azaiez H et al.
Human Mutation, 2004
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.
Feldmann D et al.
American Journal of Medical Genetics. Part A, 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
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
Ohtsuka A et al.
Human Genetics, 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
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
Hamelmann C et al.
Human Mutation, 2001
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