Associated Papers
Characterization of STRC Gene Conversions by Nanopore Sequencing.
Rigon C et al.
Clinical Chemistry, 2026
Auditory genotype-phenotype correlation of patients with variants in STRC.
Cheon TU et al.
Scientific Reports, 2025
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15.
Pan J et al.
Scientific Reports, 2025
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.
Shatokhina O et al.
International Journal of Molecular Sciences, 2022
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Kim SY et al.
Scientific Reports, 2022
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
Kim SY et al.
Scientific Reports, 2021
Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population.
Morgan A et al.
Genes, 2020
Rapid screening of copy number variations in STRC by droplet digital PCR in patients with mild-to-moderate hearing loss.
Ito T et al.
Human Genome Variation, 2019
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
Cabanillas R et al.
Bmc Medical Genomics, 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
STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic.
Plevova P et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2017
Identification of a nonsense mutation in the STRC gene in a Korean family with moderate hearing loss.
Sagong B et al.
International Journal of Pediatric Otorhinolaryngology, 2016
Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.
Mandelker D et al.
The Journal of Molecular Diagnostics : Jmd, 2014
Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.
Chang MY et al.
Korean Journal of Audiology, 2014
Copy number variants are a common cause of non-syndromic hearing loss.
Shearer AE et al.
Genome Medicine, 2014
Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.
Choi BY et al.
Plos One, 2013
Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment.
Shearer AE et al.
Bmc Genomics, 2012
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.
Francey LJ et al.
American Journal of Medical Genetics. Part A, 2012
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.
Shearer AE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010