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Pediatric Research|March 19, 2015
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counselingMarta Gandía, Joaquín Fernández-Toral, Juan Solanellas, et al.
Human Mutation|September 15, 2004
GJB2: the spectrum of deafness-causing allele variants and their phenotypeHela Azaiez, G Parker Chamberlin, Stephanie M Fischer, et al.
Human Genetics|November 22, 2007
A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expressionAngeles Mencía, Daniel González-Nieto, Silvia Modamio-Høybjør, et al.
European Journal of Medical Genetics|August 2, 2011
A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian familyMariem Ben Saïd, Leila Ayedi, Melek Mnejja, et al.
Journal of Translational Medicine|August 29, 2019
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disordersMaría Domínguez-Ruiz, Alberto García-Martínez, Marc Corral-Juan, et al.
Nature Genetics|April 14, 2009
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing lossAngeles Mencía, Silvia Modamio-Høybjør, Nick Redshaw, et al.
Human Molecular Genetics|May 30, 2009
In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairmentMatías Morín, Keith E Bryan, Fernando Mayo-Merino, et al.
BMC Genomics|April 11, 2024
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological studyMaría Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, et al.
Genes|January 21, 2022
Novel Pathogenic Variants in <i>PJVK</i>, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum DisorderMaría Domínguez-Ruiz, Montserrat Rodríguez-Ballesteros, Marta Gandía, et al.
Genes|July 27, 2024
Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA SynthetasesMaría Domínguez-Ruiz, Margarita Olarte, Esther Onecha, et al.
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