The prevalence of protein misfolding as a mechanism for hereditary deafness
Rose A. Gogal, Genevieve M. Cox, Diana L. Kolbe, Arthur Duston Odell, Chloe Ovel, Katherine McCormick, Brian Hong, Héla Azaiez, Thomas L. Casavant, Richard J. Smith, Terry A. Braun, Michael J. Schnieders
The paper evaluates computational frameworks to prioritize pathogenic variants in deafness-associated genes, identifying 28,866 VUSs with high pathogenicity probability and improving diagnoses for 12 patients.
PLoS Genetics · Sep 30, 2026Peer-reviewedGenetics