Cheng‐Yu Tsai

This study identifies biallelic SLC26A4 pathogenic variants in all Mongolian EVA patients, revealing a unique mutation spectrum across East, North, and Southwest Asian populations.

This study uses long-read sequencing to identify STRC variants in patients with hereditary hearing impairment, finding 11% diagnostic yield and highlighting LRS's ability to detect complex variants missed by conventional NGS.

The paper introduces TP-DB, a database of helical peptides with pattern-based search capabilities, demonstrating its utility in designing therapeutic peptides and diagnostic tools for pathogens.

The paper investigates the pathogenicity of the SLC26A4 p.C565Y variant using genetically modified mice, finding it non-pathogenic in mice despite being reported as pathogenic in humans.