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Biomedicines|November 25, 2023
Novel Pathogenic Variants in the Gene Encoding Stereocilin (<i>STRC</i>) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean SubjectsMaría Domínguez-Ruiz, Laura Ruiz-Palmero, Paula I Buonfiglio, et al.
Human Mutation|November 25, 2003
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)Montserrat Rodríguez-Ballesteros, Francisco J del Castillo, Yolanda Martín, et al.
Cellular and Molecular Life Sciences : CMLS|November 21, 2023
Thalamic Foxp2 regulates output connectivity and sensory-motor impairments in a model of Huntington's DiseaseEned Rodríguez-Urgellés, Diana Casas-Torremocha, Anna Sancho-Balsells, et al.
Scientific Reports|April 12, 2020
Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variantsMatias Morín, Lucía Borreguero, Kevin T Booth, et al.
European Journal of Human Genetics : EJHG|May 1, 2014
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5Celia Zazo Seco, Anne M M Oonk, María Domínguez-Ruiz, et al.
Audiology Research|September 22, 2025
A Novel 1259 bp Intragenic Deletion in the <i>GJB2</i> Gene in a Mexican Family with Congenital Profound Hearing LossDavid Oaxaca-Castillo, Laura Taño-Portuondo, Montserrat Rodríguez-Ballesteros, et al.
Ear and Hearing|January 1, 2014
Similar phenotypes caused by mutations in OTOG and OTOGLAnne M M Oonk, Joop M Leijendeckers, Patrick L M Huygen, et al.
American Journal of Human Genetics|May 10, 2011
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing lossAntje K Huebner, Marta Gandia, Peter Frommolt, et al.
American Journal of Human Genetics|July 11, 2006
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutationsMin-Xin Guan, Qingfeng Yan, Xiaoming Li, et al.
The EMBO Journal|July 27, 2016
Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearingChristian Vogl, Iliana Panou, Gulnara Yamanbaeva, et al.
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