Marta Gandía

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

H. Kremer, L. Hoefsloot, R. Pennings, 2014, European Journal of Human Genetics.

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.

F. Moreno, C. Hernández-Chico, A. Viñuela, 2008, European Journal of Human Genetics.

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

Felipe Moreno, Marta Gandía, F. Moreno, 2008, Proceedings of the National Academy of Sciences.

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel

M. Morado, F. D. Del Castillo, D. García-Seisdedos, 2019, JIMD reports.

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.

F. Wagner, P. Frommolt, G. Nürnberg, 2011, American journal of human genetics.

A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment

F. Moreno, I. del Castillo, M. Villamar, 2013, PloS one.

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

R. Santarelli, L. Tranebjaerg, P. Scimemi, 2022, Genes.

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

M. Villamar, M. Moreno-Pelayo, I. Castillo, 2015, Pediatric Research.

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

F. Moreno, C. Nofziger, M. Paulmichl, 2008, Proceedings of the National Academy of Sciences.