Takenori Suga, Takeshi Yoshida, Atsushi Yokoyama, Yotaro Hanami, Kazushige Ashina, Natsumi Nakamura, Koji Kawakami, Junko Takita, Masato Takeuchi. Prolonged Febrile Seizure and Long-Term Neurological Sequelae in Otherwise Healthy Children. Annals of Neurology. 2025
Taro Matsuoka, Takeshi Yoshida, Kengo Kora, Naoko Yano, Yoshihiro Taura, Takashi Nakamura, Takenori Tozawa, Jun Mori, Tomohiro Chiyonobu. A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8. Human Genome Variation. 2024
Shogo Furukawa, Mitsuhiro Kato, Akihiko Ishiyama, Tomohiro Kumada, Takeshi Yoshida, Eri Takeshita, Pin Fee Chong, Hideo Yamanouchi, Yuko Kotake, Takayoshi Kyoda, et al. Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield. Journal of human genetics. 2024
Matsuura, A., Tozawa, T., Moroto, M., Miyamoto, Y., Kawabe, Y., Zuiki, M., Hasegawa, T., Kayaki, T., Yano, N., Yoshida, T., et al. Alternating cerebral edema and arterial dilations in Molybdenum cofactor deficiency type-A. Journal of Inherited Metabolic Disease. 2024. 47. 5
直子 矢野, Pin Fee Chong, Kenji K Kojima, Tomoichiro Miyoshi, Ahmad Luqmen-Fatah, Yu Kimura, Kengo Kora, Taisei Kayaki, Kanako Maizuru, Takahiro Hayashi, et al. Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron ofATP7Aas a novel cause of occipital horn syndrome. Journal of Medical Genetics. 2024