Published online in Human Molecular Genetics is a collaborative work with Hyogo Medical University on a case of cardiac sudden death of a woman with a frameshift mutation in RBM20 at her 40s.

Aya Miura, Takuma Yamamoto*, Mai Imasaka, Michihiko Sugimoto, Yoshiro Naito, Hiroshi Nishiura, Minori Nishiguchi, Kazuhisa Funayama, Yuri Yamasu, Akihide Koyama, Hisakazu Takatsuka, Hidehito Kuroyanagi, Masaki Ohmuraya, Hajime Nishio. 

"Q373fs variant of RBM20 affects splicing and expression of cardiac-related genes and cardiac function: Human sudden death case and mouse experiments." 

Human Molecular Genetics ddaf157, 2025. 

DOI: 10.1093/hmg/ddaf157