Search Results - Yoichi Matsubara

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  1. 1

    Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis by Yusuke Goto, Tetsuya Niihori, Seiji Mizuno, Nobuhiko Okamoto, Tsutomu Ogata, Kenji Kurosawa, Hirofumi Ohashi, Yoichi Matsubara, Taiki Abe, Atsuo Kikuchi, Yoko Aoki

    Published in Scientific Reports (2025-04-01)
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  2. 2

    Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype by Takaya Iida, Arisa Igarashi, Kae Fukunaga, Kae Fukunaga, Taiga Aoki, Tomomi Hidai, Kumiko Yanagi, Masahiko Yamamori, Kazuhito Satou, Hayato Go, Tomoki Kosho, Ryuto Maki, Takashi Suzuki, Yohei Nitta, Atsushi Sugie, Yoichi Asaoka, Makoto Furutani-Seiki, Tetsuaki Kimura, Tetsuaki Kimura, Yoichi Matsubara, Tadashi Kaname

    Published in Frontiers in Genetics (2024-03-01)
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  3. 3

    Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis. by Yosuke Kawai, Yusuke Watanabe, Yosuke Omae, Reiko Miyahara, Seik-Soon Khor, Eisei Noiri, Koji Kitajima, Hideyuki Shimanuki, Hiroyuki Gatanaga, Kenichiro Hata, Kotaro Hattori, Aritoshi Iida, Hatsue Ishibashi-Ueda, Tadashi Kaname, Tatsuya Kanto, Ryo Matsumura, Kengo Miyo, Michio Noguchi, Kouichi Ozaki, Masaya Sugiyama, Ayako Takahashi, Haruhiko Tokuda, Tsutomu Tomita, Akihiro Umezawa, Hiroshi Watanabe, Sumiko Yoshida, Yu-Ichi Goto, Yutaka Maruoka, Yoichi Matsubara, Shumpei Niida, Masashi Mizokami, Katsushi Tokunaga

    Published in PLoS Genetics (2023-12-01)
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  4. 4

    Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis by Yosuke Kawai, Yusuke Watanabe, Yosuke Omae, Reiko Miyahara, Seik-Soon Khor, Eisei Noiri, Koji Kitajima, Hideyuki Shimanuki, Hiroyuki Gatanaga, Kenichiro Hata, Kotaro Hattori, Aritoshi Iida, Hatsue Ishibashi-Ueda, Tadashi Kaname, Tatsuya Kanto, Ryo Matsumura, Kengo Miyo, Michio Noguchi, Kouichi Ozaki, Masaya Sugiyama, Ayako Takahashi, Haruhiko Tokuda, Tsutomu Tomita, Akihiro Umezawa, Hiroshi Watanabe, Sumiko Yoshida, Yu-ichi Goto, Yutaka Maruoka, Yoichi Matsubara, Shumpei Niida, Masashi Mizokami, Katsushi Tokunaga

    Published in PLoS Genetics (2023-12-01)
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  5. 5

    ZNF384-related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype by Shinsuke Hirabayashi, Kentaro Ohki, Kazuhiko Nakabayashi, Hitoshi Ichikawa, Yukihide Momozawa, Kohji Okamura, Akinori Yaguchi, Kazuki Terada, Yuya Saito, Ai Yoshimi, Hiroko Ogata-Kawata, Hiromi Sakamoto, Motohiro Kato, Junya Fujimura, Moeko Hino, Akitoshi Kinoshita, Harumi Kakuda, Hidemitsu Kurosawa, Keisuke Kato, Ryosuke Kajiwara, Koichi Moriwaki, Tsuyoshi Morimoto, Kozue Nakamura, Yasushi Noguchi, Tomoo Osumi, Kazuo Sakashita, Junko Takita, Yuki Yuza, Koich Matsuda, Teruhiko Yoshida, Kenji Matsumoto, Kenichiro Hata, Michiaki Kubo, Yoichi Matsubara, Takashi Fukushima, Katsuyoshi Koh, Atsushi Manabe, Akira Ohara, Nobutaka Kiyokawa

    Published in Haematologica (2017-01-01)
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  6. 6

    First-in-human clinical study of an embryonic stem cell product for urea cycle disorders by Akihiro Umezawa, Akinari Fukuda, Reiko Horikawa, Hajime Uchida, Shin Enosawa, Yoshie Oishi, Naoko Nakamura, Kengo Sasaki, Yusuke Yanagi, Seiichi Shimizu, Toshimasa Nakao, Tasuku Kodama, Seisuke Sakamoto, Itaru Hayakawa, Saeko Akiyama, Noriaki Saku, Shoko Miyata, Kenta Ite, Palaksha Kanive Javaregowda, Masashi Toyoda, Hidenori Nonaka, Kazuaki Nakamura, Yoshikazu Ito, Yasuyuki Fukuhara, Osamu Miyazaki, Shunsuke Nosaka, Kazuhiko Nakabayashi, Chizuko Haga, Takako Yoshioka, Akira Masuda, Takashi Ohkura, Mayu Yamazaki-Inoue, Masakazu Machida, Rie Abutani-Sakamoto, Shoko Miyajima, Hidenori Akutsu, Yoichi Matsubara, Takashi Igarashi, Mureo Kasahara

    Published in Stem Cell Research & Therapy (2025-03-01)
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  7. 7

    Clinical and molecular characteristics of MEF2D fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in MEF2D-HNRNP... by Kentaro Ohki, Nobutaka Kiyokawa, Yuya Saito, Shinsuke Hirabayashi, Kazuhiko Nakabayashi, Hitoshi Ichikawa, Yukihide Momozawa, Kohji Okamura, Ai Yoshimi, Hiroko Ogata-Kawata, Hiromi Sakamoto, Motohiro Kato, Keitaro Fukushima, Daisuke Hasegawa, Hiroko Fukushima, Masako Imai, Ryosuke Kajiwara, Takashi Koike, Isao Komori, Atsushi Matsui, Makiko Mori, Koichi Moriwaki, Yasushi Noguchi, Myoung-ja Park, Takahiro Ueda, Shohei Yamamoto, Koichi Matsuda, Teruhiko Yoshida, Kenji Matsumoto, Kenichiro Hata, Michiaki Kubo, Yoichi Matsubara, Hiroyuki Takahashi, Takashi Fukushima, Yasuhide Hayashi, Katsuyoshi Koh, Atsushi Manabe, Akira Ohara, for the Tokyo Children’s Cancer Study Group (TCCSG)

    Published in Haematologica (2019-01-01)
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  8. 8

    A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD by Akiko Suga, Kei Mizobuchi, Taiga Inooka, Kazutoshi Yoshitake, Naoko Minematsu, Kazushige Tsunoda, Kazuki Kuniyoshi, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, Takaaki Hayashi, Shinji Ueno, Takeshi Iwata, Hatsue Ishibashi-Ueda, Tsutomu Tomita, Michio Noguchi, Ayako Takahashi, Yu-ichi Goto, Sumiko Yoshida, Kotaro Hattori, Ryo Matsumura, Aritoshi Iida, Yutaka Maruoka, Hiroyuki Gatanaga, Masaya Sugiyama, Satoshi Suzuki, Kengo Miyo, Yoichi Matsubara, Akihiro Umezawa, Kenichiro Hata, Tadashi Kaname, Kouichi Ozaki, Haruhiko Tokuda, Hiroshi Watanabe, Shumpei Niida, Eisei Noiri, Koji Kitajima, Yosuke Omae, Reiko Miyahara, Hideyuki Shimanuki, Yosuke Kawai, Katsushi Tokunaga

    Published in Genetics in Medicine Open (2024-01-01)
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