María Domínguez-Ruiz

Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment

Margit Schraders, Laura Ruiz-Palmero, Ersan Kalay et al. · The American Journal of Human Genetics · 2012 · 91 citations · Full text

Developmental Biology, Genetics, Audiology +10

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

Celia Zazo Seco, Anne M.M. Oonk, María Domínguez-Ruiz et al. · European Journal of Human Genetics · 2014 · 63 citations · Full text

Mendelian Disorder, Vestibular System, Health Sciences +12

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

María Domínguez-Ruiz, Alberto García-Martínez, Marc Corral‐Juan et al. · Journal of Translational Medicine · 2019 · 29 citations · Full text

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

Intrafamilial Phenotypic Variation, Developmental Biology, Mendelian Disorder +10

Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception

Rosamaria Santarelli, Pietro Scimemi, Marco Costantini et al. · Ear and Hearing · 2021 · 17 citations · Full text