Research theme for competitive and other funds (2)：
2022 - 2024 スプライシング関連タンデムリピートが遺伝性疾患の病態に果たす役割の解明
2020 - 2022 Molecular insight into the etiology of Klippel-feil syndrome
Papers (91)：
Yuta Inoue, Naomi Tsuchida, Chong Ae Kim, Bruno de Oliveira Stephan, Matheus Augusto Araujo Castro, Rachel Sayuri Honjo, Debora Romeo Bertola, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, et al. Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability. Journal of human genetics. 2024
Eriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto. Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling. Journal of human genetics. 2024
Yasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka, Keita Miyoshi, Keiji Tsuchimoto, Satoshi Sunada, Toshiyuki Itai, Masamune Sakamoto, Naomi Tsuchida, Yuri Uchiyama, et al. Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders. Journal of human genetics. 2023
Takeshi Mizuguchi, Tomoko Toyota, Eriko Koshimizu, Shinichi Kameyama, Hiromi Fukuda, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Kazuharu Misawa, et al. Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation. Journal of human genetics. 2023
Rie Seyama, Masashi Nishikawa, Yuri Uchiyama, Keisuke Hamada, Yuka Yamamoto, Masahiro Takeda, Takanori Ochi, Monami Kishi, Toshifumi Suzuki, Kohei Hamanaka, et al. A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association. Scientific Reports. 2023. 13. 1
