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
Saki Uneoka, Tomoko Kobayashi, Yurika Numata-Uematsu, Yoshitsugu Oikawa, Yu Katata, Yukimune Okubo, Yu Abe, Atsuo Kikuchi, Jun Takayama, Gen Tamiya, et al. A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor. Pediatric Neurology. 2023. 146. 16-20
Yukimune Okubo, Moriei Shibuya, Haruhiko Nakamura, Aritomo Kawashima, Kaori Kodama, Wakaba Endo, Takehiko Inui, Noriko Togashi, Yu Aihara, Matsuyuki Shirota, et al. Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A. Brain & development. 2023