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American Journal of Human Genetics|November 6, 2012
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairmentMargit Schraders, Laura Ruiz-Palmero, Ersan Kalay, et al.
Human Mutation|April 3, 2008
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathyMontserrat Rodríguez-Ballesteros, Raúl Reynoso, Margarita Olarte, et al.
American Journal of Human Genetics|October 23, 2003
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter studyIgnacio Del Castillo, Miguel A Moreno-Pelayo, Francisco J Del Castillo, et al.
Human Mutation|April 27, 2011
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing lossMichael S Hildebrand, Matías Morín, Nicole C Meyer, et al.
Audiology Research|May 23, 2023
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing ImpairmentLaurence Jonard, Davide Brotto, Miguel A Moreno-Pelayo, et al.
American Journal of Human Genetics|July 3, 2018
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and MouseMieke Wesdorp, Silvia Murillo-Cuesta, Theo Peters, et al.
The New England Journal of Medicine|October 14, 2025
DB-OTO Gene Therapy for Inherited DeafnessVassili Valayannopoulos, Manohar Bance, Daniela S Carvalho, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2025
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over timeKezang C Tshering, Marina T DiStefano, Andrea M Oza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 5, 2019
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert PanelJun Shen, Andrea M Oza, Ignacio Del Castillo, et al.
European Journal of Human Genetics : EJHG|November 6, 2008
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier geneNele Hilgert, Matthew J Huentelman, Ashley Q Thorburn, et al.
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