Marta Gandía

Functional assessment of allelic variants in the <i>SLC26A4</i> gene involved in Pendred syndrome and nonsyndromic EVA

Alejandra Pera, Silvia Dossena, Simona Rodighiero et al. · Proceedings of the National Academy of Sciences · 2008 · 112 citations · Full text

Membrane Transporter, Genetics, Human Polymorphism +19

Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss

Antje K. Huebner, Marta Gandía, Peter Frommolt et al. · The American Journal of Human Genetics · 2011 · 85 citations · Full text

Genome Instability, Protein Responsive, Genetic Disorder +9

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 · 76 citations

Developmental Biology, Genetic Disorder, Genetics +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

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