Kana Fukui, Shoichiro Amari, Nobuyuki Yotani, Rika Kosaki, Kenichiro Hata, Motomichi Kosuga, Haruhiko Sago, Tetsuya Isayama, Yushi Ito. A Neonate with Mucopolysaccharidosis Type VII with Intractable Ascites. American Journal of Perinatology Reports. 2023. 13. 01. e25-e28
Hiroyuki Higashiyama, Yoshiteru Ohsone, Rieko Takatani, Takeshi Futatani, Rika Kosaki, Masayo Kagami. Two infants with mild, atypical clinical features of Kagami-Ogata syndrome caused by epimutation. European journal of medical genetics. 2022. 65. 10. 104580-104580
Hisato Suzuki, Masatoshi Nozaki, Hiroshi Yoshihashi, Kazuo Imagawa, Daigo Kajikawa, Mamiko Yamada, Yu Yamaguchi, Naoya Morisada, Mayuko Eguchi, Shoko Ohashi, et al. Genome analysis in sick neonates and infants: high-yield phenotypes and contribution of small copy number variations. The Journal of pediatrics. 2022. 244. 38-48
Hideo Kaneko, Minoru Takemoto, Hiroaki Murakami, Kenji Ihara, Rika Kosaki, Sei-Ichiro Motegi, Akira Taniguchi, Muneaki Matsuo, Naoya Yamazaki, Chikako Nishigori, et al. Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan. Pediatrics international : official journal of the Japan Pediatric Society. 2022. 64. 1. e15120