Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Prevalence of pendrin defects in sudanese families with congenital hypothyroidism.
Islam MS et al.
Endocrine, 2025
Bilateral Enlarged Vestibular Aqueduct: Auditory, Genetic and Radiological Characterization, and Benefits of Cochlear Implants.
Vigouroux A et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2025
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
Genetic variants and audiometric patterns in nonsyndromic enlarged vestibular aqueduct Chinese children with complete hearing loss.
Guan R et al.
European Journal of Pediatrics, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
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
Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.
Sklenar M et al.
Molecular Medicine (cambridge, Mass.), 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
Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.
Bernardinelli E et al.
Molecular Medicine (cambridge, Mass.), 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
CRISPR/Cas9-mediated exon skipping to restore premature translation termination in a DFNB4 mouse model.
Huang CY et al.
Gene Therapy, 2024
Identifying DNA Variants in a Turkish Cohort with Inner Ear Anomalies.
Yilmaz U et al.
Ear, Nose, & Throat Journal, 2024
Variants in Genes Associated with Hearing Loss in Children: Prevalence in a Large Canadian Cohort.
Wener ER et al.
The Laryngoscope, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Postnatal genetic umbilical cord analysis for earliest possible detection of inherited hearing impairment.
Ketterer 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, 2023
Characteristics of hearing loss-associated gene mutations: A multi-center study of 119,606 neonates in Gannan.
Zhao M et al.
International Journal of Pediatric Otorhinolaryngology, 2023
Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia).
Danilchenko VY et al.
Genes, 2023
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson RJ et al.
Jama Otolaryngology-- Head & Neck Surgery, 2023
The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation.
Bałdyga N et al.
Genes, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss.
Danilchenko VY et al.
International Journal of Molecular Sciences, 2022
Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts.
He X et al.
Bmc Medical Genomics, 2022
Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct.
Cinleti T et al.
Molecular Syndromology, 2022
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Smits JJ et al.
Human Genetics, 2022
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI et al.
Human Genetics, 2022
Genetic etiology of non-syndromic hearing loss in Latin America.
Lezirovitz K et al.
Human Genetics, 2022
Screening of SLC26A4 Gene Hotspots in 2673 Patients Associated with Sensorineural Hearing Loss in Northwestern China.
Wang Y et al.
The Journal of International Advanced Otology, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.
Albader N et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Atypical Presentation of Enlarged Vestibular Aqueducts Caused by SLC26A4 Variants.
Byun JC et al.
Children (basel, Switzerland), 2022
Follicular thyroid cancer in a patient with Pendred syndrome.
Lacka K et al.
Annales D'endocrinologie, 2021
Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.
Tesolin P et al.
Genes, 2021
Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene.
Tian Y et al.
Molecular Genetics & Genomic Medicine, 2021
Genetic mutations in patients with nonsyndromic hearing impairment of minority and Han Chinese ethnicities in Qinghai, China.
Duan S et al.
The Journal of International Medical Research, 2021
Mutation analysis of the SLC26A4 gene in three Chinese families.
Wen C et al.
Bioscience Trends, 2019
Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.
Wu CC et al.
Genes, 2019
A systematic review of SLC26A4 mutations causing hearing loss in the Iranian population.
Koohiyan M
International Journal of Pediatric Otorhinolaryngology, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Comprehensive analysis of syndromic hearing loss patients in Japan.
Ideura M et al.
Scientific Reports, 2019
Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs.
Mikkelsen KS et al.
Cochlear Implants International, 2019
A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss.
Liu Y et al.
Plos One, 2019
Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.
Roesch S et al.
International Journal of Molecular Sciences, 2018
Novel compound heterozygous mutations in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct.
Zhao X et al.
Bioscience Trends, 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
Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.
Luo J et al.
Annals of Human Genetics, 2017
Simultaneous multi‑gene mutation screening using SNPscan in patients from ethnic minorities with nonsyndromic hearing‑impairment in Northwest China.
Duan SH et al.
Molecular Medicine Reports, 2017
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.
Chattaraj P et al.
Journal of Medical Genetics, 2017