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S

Shinji Ueno

Department of Ophthalmology
H指数:38
被引数:5,615

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Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases
JOURNAL OF MEDICAL GENETICS
IF3.7
2024-03-184
OA
Goto, Kensuke; Koyanagi, Yoshito; Akiyama, Masato; Murakami, Yusuke; Fukushima, Masatoshi; Fujiwara, Kohta; Iijima, Hanae; Yamaguchi, Mitsuyo; Endo, Mikiko; Hashimoto, Kazuki; Ishizu, Masataka; Hirakata, Toshiaki; Mizobuchi, Kei; Takayama, Masakazu; Ota, Junya; Sajiki, Ai Fujita; Kominami, Taro; Ushida, Hiroaki; Fujita, Kosuke; Kaneko, Hiroki; Ueno, Shinji; Hayashi, Takaaki; Terao, Chikashi; Hotta, Yoshihiro; Murakami, Akira; Kuniyoshi, Kazuki; Kusaka, Shunji; Wada, Yuko; Abe, Toshiaki; Nakazawa, Toru; Ikeda, Yasuhiro; Momozawa, Yukihide; Sonoda, Koh-Hei; Nishiguchi, Koji M.
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing

通过全外显子组测序对患有遗传性视网膜疾病的1210个日本家系进行遗传表征

HUMAN MUTATION
IF3.7
2022-11-0718
OA
Suga, Akiko; Yoshitake, Kazutoshi; Minematsu, Naoko; Tsunoda, Kazushige; Fujinami, Kaoru; Miyake, Yozo; Kuniyoshi, Kazuki; Hayashi, Takaaki; Mizobuchi, Kei; Ueno, Shinji; Terasaki, Hiroko; Kominami, Taro; Nao-I, Nobuhisa; Mawatari, Go; Mizota, Atsushi; Shinoda, Kei; Kondo, Mineo; Kato, Kumiko; Sekiryu, Tetsuju; Nakamura, Makoto; Kusuhara, Sentaro; Yamamoto, Hiroyuki; Yamamoto, Shuji; Mochizuki, Kiyofumi; Kondo, Hiroyuki; Matsushita, Itsuka; Kameya, Shuhei; Fukuchi, Takeo; Hatase, Tetsuhisa; Horiguchi, Masayuki; Shimada, Yoshiaki; Tanikawa, Atsuhiro; Yamamoto, Shuichi; Miura, Gen; Ito, Nana; Murakami, Akira; Fujimaki, Takuro; Hotta, Yoshihiro; Tanaka, Koji; Iwata, Takeshi
Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing
JOURNAL OF MEDICAL GENETICS
IF3.7
2022-06-1511
OAAI
Sano, Yusuke; Koyanagi, Yoshito; Wong, Jing Hao; Murakami, Yusuke; Fujiwara, Kohta; Endo, Mikiko; Aoi, Tomomi; Hashimoto, Kazuki; Nakazawa, Toru; Wada, Yuko; Ueno, Shinji; Gao, Dan; Murakami, Akira; Hotta, Yoshihiro; Ikeda, Yasuhiro; Nishiguchi, Koji M.; Momozawa, Yukihide; Sonoda, Koh-Hei; Akiyama, Masato; Fujimoto, Akihiro
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa

通过全基因组关联研究检测到的EYS中的一种拟态变异有助于色素性视网膜炎

COMMUNICATIONS BIOLOGY
IF5.1
2021-01-2912
OAAI
Nishiguchi, Koji M.; Miya, Fuyuki; Mori, Yuka; Fujita, Kosuke; Akiyama, Masato; Kamatani, Takashi; Koyanagi, Yoshito; Sato, Kota; Takigawa, Toru; Ueno, Shinji; Tsugita, Misato; Kunikata, Hiroshi; Cisarova, Katarina; Nishino, Jo; Murakami, Akira; Abe, Toshiaki; Momozawa, Yukihide; Terasaki, Hiroko; Wada, Yuko; Sonoda, Koh-Hei; Rivolta, Carlo; Tsunoda, Tatsuhiko; Tsujikawa, Motokazu; Ikeda, Yasuhiro; Nakazawa, Toru
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association
SCIENTIFIC REPORTS
IF3.9
2020-06-1223
OAAI
Fujinami-Yokokawa, Yu; Fujinami, Kaoru; Kuniyoshi, Kazuki; Hayashi, Takaaki; Ueno, Shinji; Mizota, Atsushi; Shinoda, Kei; Arno, Gavin; Pontikos, Nikolas; Yang, Lizhu; Liu, Xiao; Sakuramoto, Hiroyuki; Katagiri, Satoshi; Mizobuchi, Kei; Kominami, Taro; Terasaki, Hiroko; Nakamura, Natsuko; Kameya, Shuhei; Yoshitake, Kazutoshi; Miyake, Yozo; Kurihara, Toshihide; Tsubota, Kazuo; Miyata, Hiroaki; Iwata, Takeshi; Tsunoda, Kazushige

研究方向

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H
Hiroko Terasaki
H 指数:56论文数:607被引数:1.3万
M
Mineo Kondo
H 指数:53论文数:500被引数:1.2万
T
Taro Kominami
H 指数:16论文数:113被引数:774
Y
Yasuki Ito
H 指数:43论文数:320被引数:6,772
Y
Yozo Miyake
H 指数:42论文数:285被引数:6,299
T
Takaaki Hayashi
H 指数:48论文数:470被引数:1.1万
K
Kazuki Kuniyoshi
H 指数:33论文数:210被引数:4,066
K
Kazushige Tsunoda
H 指数:32论文数:171被引数:3,479
S
Shunsuke Yasuda
H 指数:14论文数:94被引数:587
A
Ayami Nakanishi
H 指数:11论文数:43被引数:528