Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.
Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss.
Rentas S et al.
Human Mutation, 2025
41367487 (PubMed )
Supplement: 6371082.f1.xlsx › Supplementary_Table_1
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
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.
Florentine MM et al.
Human Genetics, 2022
34515852 (PubMed )
Supplement: 439_2021_2338_MOESM2_ESM.xlsx › All_variants
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.
Kashef A et al.
International Journal of Pediatric Otorhinolaryngology, 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
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