Thomas B. Friedman

This study uses live-cell single-molecule fluorescence microscopy to investigate MYO7A trafficking in stereocilia, revealing its dimeric form and movement restrictions mediated by plasma membrane and F-actin interactions.

This study shows that MSRB3 is essential for maintaining inner ear structure and hair bundle integrity in mice, with its antioxidant activity protecting actin redox dynamics.

This study identifies biallelic DAP3 variants causing mitoribosomal dysfunction, leading to combined oxidative phosphorylation deficiency and Perrault syndrome-like features.

The paper curates 157 variants in hearing loss genes using disease-specific ACMG/AMP guidelines, resolving 69% of discordant variants and 24% of VUS variants into clear classifications.

The paper describes a potential therapy for PCDH15-associated Usher syndrome using exogenous retinoids in a mouse model, showing improved ERG amplitudes.

This study shows that myosin 18Aα recruits β-Pix to dendritic spines in Purkinje neurons, enhancing spine maturation through actin and myosin filament assembly.

This paper identifies a noncoding 10bp deletion in Hgf in mice that causes hearing loss by disrupting neural crest migration into the stria vascularis and reducing the endocochlear potential, mirroring human DFNB39 deafness.

The paper curates 164 gene-disease pairs for hearing loss, classifying their clinical validity to improve genetic testing accuracy.

The paper identifies a homozygous variant in KIAA0391 (PRORP) as a cause of Perrault syndrome, showing reduced mitochondrial RNase P activity and impaired tRNA processing.