Yuji Takahashi, Hidetoshi Date, Hideki Oi, Takeya Adachi, Noriaki Imanishi, En Kimura, Hotake Takizawa, Shinji Kosugi, Naomichi Matsumoto, Kenjiro Kosaki, et al. Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures. Journal of Human Genetics. 2022
Hiroaki Hanafusa, Yoshihiko Hidaka, Tomomi Yamaguchi, Hisashi Shimojo, Takanori Tsukahara, Tsubasa Murase, Daisuke Matsuoka, Nao Chiba, Shun Shimada, Hirokazu Morokawa, et al. Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis. American journal of medical genetics. Part A. 2021
Yamaguchi T, Takano K, Inaba Y, Morikawa M, Motobayashi M, Kawamura R, Wakui K, Nishi E, Hirabayashi SI, Fukushima Y, et al. PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review. Am J Med Genet A. 2019. 179. 6. 948-57
Yoh Yokota, Hideaki Moteki, Shin-Ya Nishio, Tomomi Yamaguchi, Keiko Wakui, Yumiko Kobayashi, Kenji Ohyama, Hiromitsu Miyazaki, Rina Matsuoka, Satoko Abe, et al. Frequency and clinical features of hearing loss caused by STRC deletions. Scientific reports. 2019. 9. 1. 4408-4408