Gene Ranking based on Paths from Phenotypes to Genes on Knowledge Graph. - Atsuko Yamaguchi; Jae-Moon Shin; Toyofumi Fujiwara (IJCKG, 2021)

Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases. - Jae-Moon Shin; Toyofumi Fujiwara; Atsuko Yamaguchi (SWAT4HCLS, 2023)

Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases. - Jae-Moon Shin; Toyofumi Fujiwara; Hirotomo Saitsu; Atsuko Yamaguchi (BMC Medical Informatics Decis. Mak., 2025)