Rchr
J-GLOBAL ID：201801000906753233
Update date: Feb. 28, 2025 Koshimizu (Imamura) Eriko
Koshimizu (Imamura) Eriko
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Takeshi Mizuguchi, Nobuhiko Okamoto, Taiki Hara, Naoto Nishimura, Masamune Sakamoto, Li Fu, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Eriko Koshimizu, et al. Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature. Clinical epigenetics. 2025. 17. 1. 27-27
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Atsushi Fujita, Yuta Suenaga, Eri Takeshita, Yuji Takahashi, Yuichi Suzuki, Sachiko Ohori, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Satoko Miyatake, et al. Triple mosaic variants of PURA in a patient with multiple congenital anomalies. Journal of human genetics. 2025
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Simo Li, Sanami Takada, Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, Maha S. Zaki, Mahmoud Y. Issa, Aida M. S. Salem, Eriko Koshimizu, Atsushi Fujita, Ryoko Fukai, et al. Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities. npj Genomic Medicine. 2024. 9. 1
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Li Fu, Yuka Yamamoto, Rie Seyama, Nana Matsuzawa, Mariko Nagaoka, Takashi Yao, Keisuke Hamada, Kazuhiro Ogata, Toshifumi Suzuki, Naomi Tsuchida, et al. Biallelic missense CEP55 variants cause prenatal MARCH syndrome. Journal of human genetics. 2024
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Kazuki Watanabe, Tomoyasu Bunai, Masamune Sakamoto, Sayaka Ishigaki, Takamasa Iwakura, Naro Ohashi, Rie Wakatsuki, Akiyuki Takenouchi, Moriya Iwaizumi, Yoshihiro Hotta, et al. A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis. Journal of neurology. 2024
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Adaptive Samplingを用いたロングリードターゲットシーケンシング解析技術の検討
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PDE10A遺伝子変異を認めた良性家族性舞踏病の日本人一家系
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Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy.
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自閉症スペクトラム疾患を対象としたマルチプレックスPCR産物の次世代シーケンス法の確立
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