Aritomo Kawashima, Kaori Kodama, Yukimune Okubo, Wakaba Endo, Takehiko Inui, Miki Ikeda, Yu Katata, Noriko Togashi, Chihiro Ohba, Eri Imagawa, et al. Long-term clinical observation of patients with heterozygous KIF1A variants. American Journal of Medical Genetics Part A. 2024
Yasuko Mikami-Saito, Yoichi Wada, Natsuko Arai-Ichinoi, Yoko Nakajima, Sayaka Suzuki-Ajihara, Kei Murayama, Toju Tanaka, Chikahiko Numakura, Takashi Hamazaki, Noboru Igarashi, et al. Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan. Genetics in Medicine. 2024. 101165-101165
Hisao Yaoita, Eiichiro Kawai, Jun Takayama, Shinya Iwasawa, Naoya Saijo, Masayuki Abiko, Kouta Suzuki, Masato Kimura, Akira Ozawa, Gen Tamiya, et al. Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population. Journal of human genetics. 2024
Aoi Noda, Taku Obara, Fumiko Matsuzaki, Satoko Suzuki, Ryutaro Arita, Minoru Ohsawa, Ryo Obara, Kei Morishita, Fumihiko Ueno, Genki Shinoda, et al. Risk of Major Congenital Malformations Associated with the Use of Japanese Traditional (Kampo) Medicine Containing Ephedra During the First Trimester of Pregnancy. Drugs - real world outcomes. 2024
Kunihiko Moriya, Tomohiro Nakano, Yoshitaka Honda, Miyuki Tsumura, Masato Ogishi, Motoshi Sonoda, Masahiko Nishitani-Isa, Takashi Uchida, Mohamed Hbibi, Yoko Mizoguchi, et al. Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity. The Journal of experimental medicine. 2023. 220. 9