Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.
Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.
Fehrmann MLA et al.
Journal of the Association for Research in Otolaryngology : Jaro, 2025
Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.
Ghiselli S et al.
Journal of Clinical Medicine, 2024
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
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.
Dawidziuk M et al.
International Journal of Molecular Sciences, 2022
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.
Sorrentino U et al.
Audiology Research, 2021
Amino acid 118 in the Deafness Causing (DFNA20/26) ACTG1 gene is a Mutational Hot Spot.
Wang L et al.
Gene Reports, 2018
Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.
Yuan Y et al.
Bmc Genetics, 2016
Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.
Miyagawa M et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family.
Park G et al.
Bmc Genomics, 2013
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Rivière JB et al.
Nature Genetics, 2012
22366783 (PubMed )
Supplement: NIHMS474071-supplement-1.pdf
Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.
de Heer AM et al.
The Annals of Otology, Rhinology, and Laryngology, 2009
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