Mitsuko Nakashima, Kazuyuki Komatsu, Atsushi Sugie, Yohei Nitta, Jiro Osaka, M. Ummul Halilunnisa, Mitsuru Kubota, Nobuyuki Shimozawa, Melissa Carter, Petra J. G. Zwijnenburg, et al. Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder. 2025
Samuel D. Chauvin, Shoichiro Ando, Joe A. Holley, Atsushi Sugie, Fang R. Zhao, Subhajit Poddar, Rei Kato, Cathrine A. Miner, Yohei Nitta, Siddharth R. Krishnamurthy, et al. Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans. Nature Communications. 2024. 15. 1
Takaya Iida, Arisa Igarashi, Kae Fukunaga, Taiga Aoki, Tomomi Hidai, Kumiko Yanagi, Masahiko Yamamori, Kazuhito Satou, Hayato Go, Tomoki Kosho, et al. Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype. Frontiers in Genetics. 2024. 15
