Elena Gómez-Rosas

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (<i>OTOF</i>) in subjects with nonsyndromic hearing impairment and auditory neuropathy

Montserrat Rodríguez-Ballesteros, Raúl Reynoso, M. A. Gil Olarte et al. · Human Mutation · 2008 · 184 citations · Full text

Medicine, Genetics, Molecular Genetics +17

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

Mieke Wesdorp, Silvia Murillo‐Cuesta, Theo Peters et al. · The American Journal of Human Genetics · 2018 · 49 citations · Full text

Life Sciences, Neurobiology, Neuroscience +10

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling

Marta Gandía, Joaquín Fernández‐Toral, J Solanellas et al. · Pediatric Research · 2015 · 26 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder

María Domínguez-Ruiz, Montserrat Rodríguez-Ballesteros, Marta Gandía et al. · Genes · 2022 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17