Associated Papers
A novel frameshift mutation in the DIAPH1 gene causes a Chinese family autosomal dominant nonsyndromic hearing loss: Mutation in DIAPH1 causes hearing loss.
Feng Q et al.
Gene, 2025
Genetic analysis of patients with low-frequency non-syndromic hearing loss.
Yu S et al.
Molecular Genetics and Genomics : Mgg, 2024
Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss.
Gan NS et al.
Audiology & Neuro-otology, 2023
Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss.
Chiereghin C et al.
Cells, 2022
Genetic etiology of non-syndromic hearing loss in Latin America.
Lezirovitz K et al.
Human Genetics, 2022
Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human DIAPH1-related cytoskeletopathy.
Kim BJ et al.
Journal of Medical Genetics, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).
Neuhaus C et al.
Clinical Genetics, 2017
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
Al-Maawali A et al.
American Journal of Medical Genetics. Part A, 2016
[An investigation of SLC26A4 gene mutation in nonsydromic hearing impairment in Hunan province of China].
Jiang L et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2010
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