Seiji Mizuno

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2022
Publications (10 Years): 6

Top Topics

Acute Lymphoblastic Leukemia

Dna Damage Response

Top Venues

Journal of human genetics

Congenital anomalies

Science advances

Journal of medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Masanori Fujimoto, Yuji Nakamura, Toshihiko Iwaki, Emi Sato, Daisuke Ieda, Ayako Hattori, Anna Shiraki, Seiji Mizuno, Shinji Saitoh
Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction. Journal of human genetics (2022)
Tasuku Mariya, Takema Kato, Takeshi Sugimoto, Syunsuke Miyai, Hidehito Inagaki, Tamae Ohye, Eiji Sugihara, Yukako Muramatsu, Seiji Mizuno, Hiroki Kurahashi
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes. Journal of human genetics 67 (6) (2022)
Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Céline Huber, Carlos Antón-Plágaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J Cullen, Shinji Saitoh, Kohji Kato
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome. Journal of medical genetics (2022)
Masanori Fujimoto, Yuji Nakamura, Toshihiko Iwaki, Emi Sato, Daisuke Ieda, Ayako Hattori, Anna Shiraki, Seiji Mizuno, Shinji Saitoh
Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction. Journal of human genetics (2022)
Mamiko Yamada, Hisato Suzuki, Akiko Watanabe, Tomoko Uehara, Toshiki Takenouchi, Seiji Mizuno, Kenjiro Kosaki
Role of chimeric transcript formation in the pathogenesis of birth defects. Congenital anomalies 61 (3) (2020)
Yasuyoshi Oka, Motoharu Hamada, Yuka Nakazawa, Hideki Muramatsu, Yusuke Okuno, Koichiro Higasa, Mayuko Shimada, Honoka Takeshima, Katsuhiro Hanada, Taichi Hirano, Toshiro Kawakita, Hirotoshi Sakaguchi, Takuya Ichimura, Shuichi Ozono, Kotaro Yuge, Yoriko Watanabe, Yuko Kotani, Mutsumi Yamane, Yumiko Kasugai, Miyako Tanaka, Takayoshi Suganami, Shinichiro Nakada, Norisato Mitsutake, Yuichiro Hara, Kohji Kato, Seiji Mizuno, Noriko Miyake, Yosuke Kawai, Katsushi Tokunaga, Masao Nagasaki, Seiji Kito, Keiichi Isoyama, Masafumi Onodera, Hideo Kaneko, Naomichi Matsumoto, Fumihiko Matsuda, Keitaro Matsuo, Yoshiyuki Takahashi, Tomoji Mashimo, Seiji Kojima, Tomoo Ogi
Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome. Science advances 6 (51) (2020)