Associated Papers
Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects.
Gao X et al.
Human Genetics, 2025
Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families.
Cao Y et al.
Orphanet Journal of Rare Diseases, 2025
A homozygous mutation of TWNK identified in premature ovarian insufficiency warns of late-onset perrault syndrome.
Chang X et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2024
Clinical and genetic architecture of a large cohort with auditory neuropathy.
Wang H et al.
Human Genetics, 2024
38456936 (PubMed )
Supplement: 439_2024_2652_MOESM1_ESM.xlsx › Supplementary_Data_4
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 2023
36732629 (PubMed )
Supplement: 41591_2022_2194_MOESM2_ESM.xlsx › Supplementary_Table_9
[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes].
Dai LF et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019
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