Carme Medá

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

A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.

Alejandra Pera, Manuela Villamar, Antonio Viñuela et al. · European Journal of Human Genetics · 2008 · 80 citations

Life Sciences, Genetics, Molecular Genetics +12

Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype–phenotype correlation

Sara Bernal, Carme Medá, Teresa Torrent Solans et al. · Clinical Genetics · 2005 · 49 citations

Life Sciences, Audiology, 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