Byung Yoon Choi

This study uses whole-genome sequencing and functional assays to improve genetic diagnosis of sensorineural hearing loss, achieving a 55.6% diagnostic yield through comprehensive genomic profiling.

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.

This study identifies TMEM43 mutations as a cause of autosomal dominant auditory neuropathy spectrum disorder by showing their interaction with Connexin-mediated channels in cochlear glia-like supporting cells.

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

This paper develops a deep learning model using Mask R-CNN to segment tympanic membrane structures in endoscopic images, achieving high accuracy in detection and segmentation.