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Y

Yoshinori Tsurusaki

yokohama city university
H指数:56
被引数:1.0万

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荣誉奖项

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Molecular diagnosis of 405 individuals with autism spectrum disorder
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2023-03-277
OA
Miyake, Noriko; Tsurusaki, Yoshinori; Fukai, Ryoko; Kushima, Itaru; Okamoto, Nobuhiko; Ohashi, Kei; Nakamura, Kazuhiko; Hashimoto, Ryota; Hiraki, Yoko; Son, Shuraku; Kato, Mitsuhiro; Sakai, Yasunari; Osaka, Hitoshi; Deguchi, Kimiko; Matsuishi, Toyojiro; Takeshita, Saoko; Fattal-Valevski, Aviva; Ekhilevitch, Nina; Tohyama, Jun; Yap, Patrick; Keng, Wee Teik; Kobayashi, Hiroshi; Takubo, Keiyo; Okada, Takashi; Saitoh, Shinji; Yasuda, Yuka; Murai, Toshiya; Nakamura, Kazuyuki; Ohga, Shouichi; Matsumoto, Ayumi; Inoue, Ken; Saikusa, Tomoko; Hershkovitz, Tova; Kobayashi, Yu; Morikawa, Mako; Ito, Aiko; Hara, Toshiro; Uno, Yota; Seiwa, Chizuru; Ishizuka, Kanako; Shirahata, Emi; Fujita, Atsushi; Koshimizu, Eriko; Miyatake, Satoko; Takata, Atsushi; Mizuguchi, Takeshi; Ozaki, Norio; Matsumoto, Naomichi
Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes
TRANSLATIONAL PSYCHIATRY
IF6.2
2022-07-117
OAAI
Kimura, Hiroki; Nakatochi, Masahiro; Aleksic, Branko; Guevara, James; Toyama, Miho; Hayashi, Yu; Kato, Hidekazu; Kushima, Itaru; Morikawa, Mako; Ishizuka, Kanako; Okada, Takashi; Tsurusaki, Yoshinori; Fujita, Atsushi; Miyake, Noriko; Ogi, Tomoo; Takata, Atsushi; Matsumoto, Naomichi; Buxbaum, Joseph; Ozaki, Norio; Sebat, Jonathan
Multiple alterations in glutamatergic transmission and dopamine D2 receptor splicing in induced pluripotent stem cell-derived neurons from patients with familial schizophrenia
TRANSLATIONAL PSYCHIATRY
IF6.2
2021-10-257
OAAI
Yamamoto, Kana; Kuriu, Toshihiko; Matsumura, Kensuke; Nagayasu, Kazuki; Tsurusaki, Yoshinori; Miyake, Noriko; Yamamori, Hidenaga; Yasuda, Yuka; Fujimoto, Michiko; Fujiwara, Mikiya; Baba, Masayuki; Kitagawa, Kohei; Takemoto, Tomoya; Gotoda-Nishimura, Nanaka; Takada, Tomohiro; Seiriki, Kaoru; Hayata-Takano, Atsuko; Kasai, Atsushi; Ago, Yukio; Kida, Satoshi; Takuma, Kazuhiro; Ono, Fumihito; Matsumoto, Naomichi; Hashimoto, Ryota; Hashimoto, Hitoshi; Nakazawa, Takanobu
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

破坏核定位信号的CELF2中的从头变体导致发育性和癫痫性脑病

HUMAN MUTATION
IF3.7
2020-11-1023
OAAI
Itai, Toshiyuki; Hamanaka, Kohei; Sasaki, Kazunori; Wagner, Matias; Kotzaeridou, Urania; Brosse, Ines; Ries, Markus; Kobayashi, Yu; Tohyama, Jun; Kato, Mitsuhiro; Ong, Winnie P.; Chew, Hui B.; Rethanavelu, Kavitha; Ranza, Emmanuelle; Blanc, Xavier; Uchiyama, Yuri; Tsuchida, Naomi; Fujita, Atsushi; Azuma, Yoshiteru; Koshimizu, Eriko; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Takahashi, Hidehisa; Miyagi, Etsuko; Tsurusaki, Yoshinori; Doi, Hiroshi; Taguri, Masataka; Antonarakis, Stylianos E.; Nakashima, Mitsuko; Saitsu, Hirotomo; Miyatake, Satoko; Matsumoto, Naomichi
Prenatal clinical manifestations in individuals with COL4A1/2 variants
JOURNAL OF MEDICAL GENETICS
IF3.7
2020-07-3030
PREAI
Itai, Toshiyuki; Miyatake, Satoko; Taguri, Masataka; Nozaki, Fumihito; Ohta, Masayasu; Osaka, Hitoshi; Morimoto, Masafumi; Tandou, Tomoko; Nohara, Fumikatsu; Takami, Yuichi; Yoshioka, Fumitaka; Shimokawa, Shoko; Okuno-Yuguchi, Jiu; Motobayashi, Mitsuo; Takei, Yuko; Fukuyama, Tetsuhiro; Kumada, Satoko; Miyata, Yohane; Ogawa, Chikako; Maki, Yuki; Togashi, Noriko; Ishikura, Teruyuki; Kinoshita, Makoto; Mitani, Yusuke; Kanemura, Yonehiro; Omi, Tsuyoshi; Ando, Naoki; Hattori, Ayako; Saitoh, Shinji; Kitai, Yukihiro; Hirai, Satori; Arai, Hiroshi; Ishida, Fumihiko; Taniguchi, Hidetoshi; Kitabatake, Yasuji; Ozono, Keiichi; Nabatame, Shin; Smigiel, Robert; Kato, Mitsuhiro; Tanda, Koichi; Saito, Yoshihiko; Ishiyama, Akihiko; Noguchi, Yushi; Miura, Mazumi; Nakano, Takaaki; Hirano, Keiko; Honda, Ryoko; Kuki, Ichiro; Takanashi, Jun-ichi; Takeuchi, Akihito; Fukasawa, Tatsuya; Seiwa, Chizuru; Harada, Atsuko; Yachi, Yusuke; Higashiyama, Hiroyuki; Terashima, Hiroshi; Kumagai, Tadayuki; Hada, Satoshi; Abe, Yoshiichi; Miyagi, Etsuko; Uchiyama, Yuri; Fujita, Atsushi; Imagawa, Eri; Azuma, Yoshiteru; Hamanaka, Kohei; Koshimizu, Eriko; Mitsuhashi, Satomi; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Tsurusaki, Yoshinori; Doi, Hiroshi; Nakashima, Mitsuko; Saitsu, Hirotomo; Matsumoto, Naomichi
A recurrentPJA1variant in trigonocephaly and neurodevelopmental disorders
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2020-06-1218
OAAI
Suzuki, Toshimitsu; Suzuki, Toshifumi; Raveau, Matthieu; Miyake, Noriko; Sudo, Genki; Tsurusaki, Yoshinori; Watanabe, Takaki; Sugaya, Yuki; Tatsukawa, Tetsuya; Mazaki, Emi; Shimohata, Atsushi; Kushima, Itaru; Aleksic, Branko; Shiino, Tomoko; Toyota, Tomoko; Iwayama, Yoshimi; Nakaoka, Kentaro; Ohmori, Iori; Sasaki, Aya; Watanabe, Ken; Hirose, Shinichi; Kaneko, Sunao; Inoue, Yushi; Yoshikawa, Takeo; Ozaki, Norio; Kano, Masanobu; Shimoji, Takeyoshi; Matsumoto, Naomichi; Yamakawa, Kazuhiro
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy
GENETICS IN MEDICINE
IF6.2
2019-07-0128
OAAI
Hamanaka, Kohei; Miyatake, Satoko; Koshimizu, Eriko; Tsurusaki, Yoshinori; Mitsuhashi, Satomi; Iwama, Kazuhiro; Alkanaq, Ahmed N.; Fujita, Atsushi; Imagawa, Eri; Uchiyama, Yuri; Tawara, Nozomu; Ando, Yukio; Misumi, Yohei; Okubo, Mariko; Nakashima, Mitsuko; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Saitsu, Hirotomo; Iida, Aritoshi; Nishino, Ichizo; Matsumoto, Naomichi
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder
CELL REPORTS
IF6.9
2018-01-01137
OAAI
Takata, Atsushi; Miyake, Noriko; Tsurusaki, Yoshinori; Fukai, Ryoko; Miyatake, Satoko; Koshimizu, Eriko; Kushima, Itaru; Okada, Takashi; Morikawa, Mako; Uno, Yota; Ishizuka, Kanako; Nakamura, Kazuhiko; Tsujii, Masatsugu; Yoshikawa, Takeo; Toyota, Tomoko; Okamoto, Nobuhiko; Hiraki, Yoko; Hashimoto, Ryota; Yasuda, Yuka; Saitoh, Shinji; Ohashi, Kei; Sakai, Yasunari; Ohga, Shouichi; Hara, Toshiro; Kato, Mitsuhiro; Nakamura, Kazuyuki; Ito, Aiko; Seiwa, Chizuru; Shirahata, Emi; Osaka, Hitoshi; Matsumoto, Ayumi; Takeshita, Saoko; Tohyama, Jun; Saikusa, Tomoko; Matsuishi, Toyojiro; Nakamura, Takumi; Tsuboi, Takashi; Kato, Tadafumi; Suzuki, Toshifumi; Saitsu, Hirotomo; Nakashima, Mitsuko; Mizuguchi, Takeshi; Tanaka, Fumiaki; Mori, Norio; Ozaki, Norio; Matsumoto, Naomichi
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2017-01-0168
OAAI
Miyatake, Satoko; Mitsuhashi, Satomi; Hayashi, Yukiko K.; Purevjav, Enkhsaikhan; Nishikawa, Atsuko; Koshimizu, Eriko; Suzuki, Mikiya; Yatabe, Kana; Tanaka, Yuzo; Ogata, Katsuhisa; Kuru, Satoshi; Shiina, Masaaki; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Mizuguchi, Takeshi; Miyake, Noriko; Saitsu, Hirotomo; Ogata, Kazuhiro; Kawai, Mitsuru; Towbin, Jeffrey; Nonaka, Ikuya; Nishino, Ichizo; Matsumoto, Naomichi
De novo GABRA1 mutations in Ohtahara and West syndromes
EPILEPSIA
IF6.6
2016-02-2580
OA
Kodera, Hirofumi; Ohba, Chihiro; Kato, Mitsuhiro; Maeda, Toshiyuki; Araki, Kaoru; Tajima, Daisuke; Matsuo, Muneaki; Hino-Fukuyo, Naomi; Kohashi, Kosuke; Ishiyama, Akihiko; Takeshita, Saoko; Motoi, Hirotaka; Kitamura, Taro; Kikuchi, Atsuo; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Sasaki, Masayuki; Kure, Shigeo; Haginoya, Kazuhiro; Saitsu, Hirotomo; Matsumoto, Naomichi
De novo DNM1 mutations in two cases of epileptic encephalopathy

2例癫痫性脑病的从头DNM1突变

EPILEPSIA
IF6.6
2015-11-2734
OAAI
Nakashima, Mitsuko; Kouga, Takeshi; Lourenco, Charles Marques; Shiina, Masaaki; Goto, Tomohide; Tsurusaki, Yoshinori; Miyatake, Satoko; Miyake, Noriko; Saitsu, Hirotomo; Ogata, Kazuhiro; Osaka, Hitoshi; Matsumoto, Naomichi
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome
JOURNAL OF MEDICAL GENETICS
IF3.7
2015-11-0571
OAAI
Hempel, Annmarie; Pagnamenta, Alistair T.; Blyth, Moira; Mansour, Sahar; McConnell, Vivienne; Kou, Ikuyo; Ikegawa, Shiro; Tsurusaki, Yoshinori; Matsumoto, Naomichi; Lo-Castro, Adriana; Plessis, Ghislaine; Albrecht, Beate; Battaglia, Agatino; Taylor, Jenny C.; Howard, Malcolm F.; Keays, David; Sohal, Aman Singh; Kuehl, Susanne J.; Kini, Usha; McNeill, Alisdair

研究方向

暂未获取到该数据
N
Naomichi Matsumoto
H 指数:85论文数:1,398被引数:3.8万
H
Hirotomo Saitsu
H 指数:69论文数:685被引数:1.8万
N
Noriko Miyake
H 指数:69论文数:784被引数:1.9万
M
Mitsuko Nakashima
H 指数:59论文数:302被引数:1.1万
S
Satoko Miyatake
H 指数:49论文数:282被引数:8,272
M
Mitsuhiro Kato
H 指数:62论文数:389被引数:1.3万
M
Masaaki Shiina
H 指数:43论文数:145被引数:6,414
H
Hitoshi Osaka
H 指数:48论文数:333被引数:9,228
H
Hiroshi Doi
H 指数:43论文数:308被引数:8,248
K
Kazuhiro Ogata
H 指数:48论文数:263被引数:9,434