CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survivalEMBO MOLECULAR MEDICINEIF8.32017-12-0164OAAI
Usher syndrome type 1-associated cadherins shape the photoreceptor outer segmentJOURNAL OF CELL BIOLOGYIF6.42017-05-1150OAAI
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound DeafnessAMERICAN JOURNAL OF HUMAN GENETICSIF8.12016-06-0140OAAI
Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growthJOURNAL OF CELL BIOLOGYIF6.42016-01-1153OAAI
Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from miceJOURNAL OF CELL BIOLOGYIF6.42012-10-08148OAAI
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafnessHUMAN MOLECULAR GENETICSIF3.22012-06-0764PREAI
New insights into the alternative D-glucarate degradation pathwayJOURNAL OF BIOLOGICAL CHEMISTRYIF3.92008-06-0135OAAI
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathyNATURE GENETICSIF31.82006-06-25289PREAI
DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1EUROPEAN JOURNAL OF HUMAN GENETICSIF4.62003-09-268OAAI
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