Associated Papers
A novel non-sense variant in GSDME causing exon skipping associated with DFNA5 in a large Chinese family.
Yang B et al.
Frontiers in Neurology, 2026
Comparison of clinical performance of MeltPro hearing loss assay and targeted next generation sequencing assay for genetic screening of hearing loss.
Wang X et al.
Scientific Reports, 2025
40595116 (PubMed )
Supplement: 41598_2025_6744_MOESM1_ESM.xls › Supplementary_Table_S2
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
Gain-of-function variants in GSDME cause pyroptosis and apoptosis associated with post-lingual hearing loss.
Xiao Y et al.
Human Genetics, 2024
[Splicing mutations of GSDME cause late-onset non-syndromic hearing loss].
Li D et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2024
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.
Lei P et al.
Plos One, 2022
Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.
Yuan Y et al.
European Journal of Human Genetics : Ejhg, 2020
Case Report: Novel Heterozygous DFNA5 Splicing Variant Responsible for Autosomal Dominant Non-syndromic Hearing Loss in a Chinese Family.
Chen X et al.
Frontiers in Genetics, 2020
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