Toshiyuki Itai

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 22

Top Topics

Parkinson Disease

Autism Spectrum Disorder

Top Venues

Scientific reports

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Congenital anomalies

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

Publications

Toshiyuki Itai, Peilin Jia, Yulin Dai, Jingchun Chen, Xiangning Chen, Zhong-Ming Zhao
De novo mutations disturb early brain development more frequently than common variants in schizophrenia. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 192 (3-4) (2023)
Toshiyuki Itai, Peilin Jia, Yulin Dai, Jingchun Chen, Xiangning Chen, Zhong-Ming Zhao
De novo mutations disturb early brain development more frequently than common variants in schizophrenia. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 192 (3-4) (2023)
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Toshiyuki Itai, Peilin Jia, Yulin Dai, Jingchun Chen, Xiangning Chen, Zhong-Ming Zhao
De novo mutations disturb early brain development more frequently than common variants in schizophrenia. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics (2023)
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Toshiyuki Itai, Peilin Jia, Yulin Dai, Jingchun Chen, Xiangning Chen, Zhong-Ming Zhao
De novo mutations disturb early brain development more frequently than common variants in schizophrenia. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 192 (3-4) (2023)
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Toshiyuki Itai, Peilin Jia, Yulin Dai, Jingchun Chen, Xiangning Chen, Zhong-Ming Zhao
De novo mutations disturb early brain development more frequently than common variants in schizophrenia. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 192 (3-4) (2023)
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Toshiyuki Itai, Zheng Wang, Gen Nishimura, Hirofumi Ohashi, Long Guo, Yasuhiro Wakano, Takahiro Sugiura, Hiromi Hayakawa, Mayumi Okada, Takashi Saisu, Ayana Kitta, Hiroshi Doi, Kenji Kurosawa, Yoshihiro Hotta, Katsuhiro Hosono, Miho Sato, Kenji Shimizu, Kazuharu Takikawa, Seiji Watanabe, Naho Ikeda, Mitsuyoshi Suzuki, Atsushi Fujita, Yuri Uchiyama, Naomi Tsuchida, Satoko Miyatake, Noriko Miyake, Naomichi Matsumoto, Shiro Ikegawa
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia. Clinical genetics 102 (1) (2022)
Toshiyuki Itai, Satoko Miyatake, Taku Hatano, Nobutaka Hattori, Atsuko Ohno, Yusuke Aoki, Kazuya Itomi, Harushi Mori, Hirotomo Saitsu, Naomichi Matsumoto
Cerebrovascular diseases in two patients with entire NSD1 deletion. Human genome variation 8 (1) (2021)
Toshiyuki Itai, Satoko Miyatake, Naomi Tsuchida, Ken Saida, Sho Narahara, Yu Tsuyusaki, Matheus Augusto Araujo Castro, Chong Ae Kim, Nobuhiko Okamoto, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Naomichi Matsumoto
Novel CLTC variants cause new brain and kidney phenotypes. Journal of human genetics (2021)
Toshiyuki Itai, Satoko Miyatake, Masataka Taguri, Fumihito Nozaki, Masayasu Ohta, Hitoshi Osaka, Masafumi Morimoto, Tomoko Tandou, Fumikatsu Nohara, Yuichi Takami, Fumitaka Yoshioka, Shoko Shimokawa, Jiu Okuno-Yuguchi, Mitsuo Motobayashi, Yuko Takei, Tetsuhiro Fukuyama, Satoko Kumada, Yohane Miyata, Chikako Ogawa, Yuki Maki, Noriko Togashi, Teruyuki Ishikura, Makoto Kinoshita, Yusuke Mitani, Yonehiro Kanemura, Tsuyoshi Omi, Naoki Ando, Ayako Hattori, Shinji Saitoh, Yukihiro Kitai, Satori Hirai, Hiroshi Arai, Fumihiko Ishida, Hidetoshi Taniguchi, Yasuji Kitabatake, Keiichi Ozono, Shin Nabatame, Robert Smigiel, Mitsuhiro Kato, Koichi Tanda, Yoshihiko Saito, Akihiko Ishiyama, Yushi Noguchi, Mazumi Miura, Takaaki Nakano, Keiko Hirano, Ryoko Honda, Ichiro Kuki, Jun-Ichi Takanashi, Akihito Takeuchi, Tatsuya Fukasawa, Chizuru Seiwa, Atsuko Harada, Yusuke Yachi, Hiroyuki Higashiyama, Hiroshi Terashima, Tadayuki Kumagai, Satoshi Hada, Yoshiichi Abe, Etsuko Miyagi, Yuri Uchiyama, Atsushi Fujita, Eri Imagawa, Yoshiteru Azuma, Kohei Hamanaka, Eriko Koshimizu, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Hiroshi Doi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
Prenatal clinical manifestations in individuals with COL4A1/2 variants. Journal of medical genetics 58 (8) (2020)
Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, Satoko Miyatake, Kohei Hamanaka, Naomi Tsuchida, Hiromi Aoi, Yoshiteru Azuma, Toshiyuki Itai, Ken Saida, Hiromi Fukuda, Futoshi Sekiguchi, Tomohiro Sakaguchi, Ming Lei, Sachiko Ohori, Masamune Sakamoto, Mitsuhiro Kato, Takayoshi Koike, Yukitoshi Takahashi, Koichi Tanda, Yuki Hyodo, Rachel Sayuri Honjo Kawahira, Debora Romeo Bertola, Chong Ae Kim, Masahide Goto, Tetsuya Okazaki, Hiroyuki Yamada, Yoshihiro Maegaki, Hitoshi Osaka, Lock Hock Ngu, Gaik-Siew Ch'ng, Keng W Teik, Manami Akasaka, Hiroshi Doi, Fumiaki Tanaka, Tomohide Goto, Long Guo, Shiro Ikegawa, Kazuhiro Haginoya, Muzhirah Haniffa, Nozomi Hiraishi, Yoko Hiraki, Satoru Ikemoto, Atsuro Daida, Shin-Ichiro Hamano, Masaki Miura, Akihiko Ishiyama, Osamu Kawano, Akane Kondo, Hiroshi Matsumoto, Nobuhiko Okamoto, Tohru Okanishi, Yukimi Oyoshi, Eri Takeshita, Toshifumi Suzuki, Yoshiyuki Ogawa, Hiroshi Handa, Yayoi Miyazono, Eriko Koshimizu, Atsushi Fujita, Atsushi Takata, Noriko Miyake, Takeshi Mizuguchi, Naomichi Matsumoto
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses. Human mutation 42 (1) (2020)
Toshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, Matias Wagner, Urania Kotzaeridou, Ines Brösse, Markus Ries, Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Winnie P Ong, Hui Bein Chew, Kavitha Rethanavelu, Emmanuelle Ranza, Xavier Blanc, Yuri Uchiyama, Naomi Tsuchida, Atsushi Fujita, Yoshiteru Azuma, Eriko Koshimizu, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hidehisa Takahashi, Etsuko Miyagi, Yoshinori Tsurusaki, Hiroshi Doi, Masataka Taguri, Stylianos E Antonarakis, Mitsuko Nakashima, Hirotomo Saitsu, Satoko Miyatake, Naomichi Matsumoto
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. Human mutation 42 (1) (2020)
Mai Shimura, Hiroshi Ishikawa, Hiromi Nagase, Akihiko Mochizuki, Futoshi Sekiguchi, Naho Koshimizu, Toshiyuki Itai, Mizuha Odagami
Predicting the intrauterine fetal death of fetuses with cystic hygroma in early pregnancy. Congenital anomalies 58 (5) (2018)
Toshiyuki Itai, Hiroshi Ishikawa, Kenji Kurosawa, Yu Tsuyusaki
A case of prenatal chronic intestinal pseudo-obstruction associated with Leigh syndrome. Clinical case reports 6 (8) (2018)