Nao Otomo, Kazuki Takeda, Shunsuke Kawai, Ikuyo Kou, Long Guo, Mitsujiro Osawa, Cantas Alev, Noriaki Kawakami, Noriko Miyake, Naomichi Matsumoto, et al. Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis. Journal of medical genetics. 2019. 56. 9. 622-628
Bertrand Boisson, Yoshitaka Honda, Masahiko Ajiro, Jacinta Bustamante, Matthieu Bendavid, Andrew R Gennery, Yuri Kawasaki, Jose Ichishima, Mitsujiro Osawa, Hiroshi Nihira, et al. Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency. The Journal of clinical investigation. 2019. 129. 2. 583-597
Karagiannis P, Takahashi K, Saito M, Yoshida Y, Okita K, Watanabe A, Inoue H, Yamashita JK, Todani M, Nakagawa M, et al. Induced Pluripotent Stem Cells and Their Use in Human Models of Disease and Development. Physiological reviews. 2019. 99. 1. 79-114
