Associated Papers
Whole exome sequencing identifies risk variants associated with intracranial epidermoid cyst deterioration: A case report.
Song ZN et al.
World Journal of Clinical Oncology, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S9
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1
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
34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.
Ray M et al.
Journal of Pediatric Genetics, 2022
Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
Yu X et al.
Orphanet Journal of Rare Diseases, 2020
Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India.
Amritkumar P et al.
Bmc Medical Genetics, 2018
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen CM et al.
Human Genetics, 2016
26969326 (PubMed )
Supplement: 439_2016_1648_MOESM1_ESM.pdf
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes.
Nishio SY et al.
Genetic Testing and Molecular Biomarkers, 2015
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
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