Satoko Miyatake, Hiroshi Doi, Hiroaki Yaguchi, Eriko Koshimizu, Naoki Kihara, Tomoyasu Matsubara, Yasuko Mori, Kenjiro Kunieda, Yusaku Shimizu, Tomoko Toyota, et al. Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese. Journal of neurology, neurosurgery, and psychiatry. 2024
Takuma Ohashi, Hiroyoshi Kunimoto, Jun Nukui, Haruka Teshigawara, Satoshi Koyama, Takuya Miyazaki, Maki Hagihara, Kenji Matsumoto, Eriko Koshimizu, Naomi Tsuchida, et al. A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant. International Journal of Hematology. 2024
Masaaki Matsushima, Hiroaki Yaguchi, Eriko Koshimizu, Akihiko Kudo, Shinichi Shirai, Takeshi Matsuoka, Shigehisa Ura, Atsushi Kawashima, Toshiyuki Fukazawa, Satoko Miyatake, et al. FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients. Journal of neurology. 2024
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
Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy.
(American Society of Human Genetics 2014)
