Associated Papers
Molecular dynamics simulation of GJC2 mutants reveal pathogenic mechanisms of PMLD1 and SPG44.
Gong D et al.
The Journal of General Physiology, 2025
Clinical application of preimplantation genetic testing based on low-coverage next-generation sequencing with linkage analyses in hereditary hearing loss families.
Wang W et al.
Journal of Assisted Reproduction and Genetics, 2025
Mutation spectrum of GJB2, SLC26A4 and mtDNA12SrRNA genes in non-syndromic hearing loss patients from Gansu, China.
Duan S et al.
International Journal of Pediatric Otorhinolaryngology, 2025
Hereditary deafness carrier screening in 9,993 Chinese individuals.
Liu Y et al.
Frontiers in Genetics, 2023
38274112 (PubMed )
Supplement: Table1.XLSX › Table_S2_Variant_spectrum_of_GJ
Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.
Xiang J et al.
Bmc Medical Genomics, 2022
35761346 (PubMed )
Supplement: 12920_2022_1293_MOESM3_ESM.xlsx › Table_S2
Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.
Mori K et al.
Plos One, 2016
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
Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.
Usami S et al.
Plos One, 2012
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