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Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes.
Published in:
2023
By:
- Itai, Toshiyuki;
- Sugie, Atsushi;
- Nitta, Yohei;
- Maki, Ryuto;
- Suzuki, Takashi;
- Shinkai, Yoichi;
- Watanabe, Yoshihiro;
- Nakano, Yusuke;
- Ichikawa, Kazushi;
- Okamoto, Nobuhiko;
- Utsuno, Yasuhiro;
- Koshimizu, Eriko;
- Fujita, Atsushi;
- Hamanaka, Kohei;
- Uchiyama, Yuri;
- Tsuchida, Naomi;
- Miyake, Noriko;
- Misawa, Kazuharu;
- Mizuguchi, Takeshi;
- Miyatake, Satoko
Publication type:
Correction Notice
A novel NONO variant that causes developmental delay and cardiac phenotypes.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-27770-6
By:
- Itai, Toshiyuki;
- Sugie, Atsushi;
- Nitta, Yohei;
- Maki, Ryuto;
- Suzuki, Takashi;
- Shinkai, Yoichi;
- Watanabe, Yoshihiro;
- Nakano, Yusuke;
- Ichikawa, Kazushi;
- Okamoto, Nobuhiko;
- Utsuno, Yasuhiro;
- Koshimizu, Eriko;
- Fujita, Atsushi;
- Hamanaka, Kohei;
- Uchiyama, Yuri;
- Tsuchida, Naomi;
- Miyake, Noriko;
- Misawa, Kazuharu;
- Mizuguchi, Takeshi;
- Miyatake, Satoko
Publication type:
Article
A novel NONO variant that causes developmental delay and cardiac phenotypes.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-27770-6
By:
- Itai, Toshiyuki;
- Sugie, Atsushi;
- Nitta, Yohei;
- Maki, Ryuto;
- Suzuki, Takashi;
- Shinkai, Yoichi;
- Watanabe, Yoshihiro;
- Nakano, Yusuke;
- Ichikawa, Kazushi;
- Okamoto, Nobuhiko;
- Utsuno, Yasuhiro;
- Koshimizu, Eriko;
- Fujita, Atsushi;
- Hamanaka, Kohei;
- Uchiyama, Yuri;
- Tsuchida, Naomi;
- Miyake, Noriko;
- Misawa, Kazuharu;
- Mizuguchi, Takeshi;
- Miyatake, Satoko
Publication type:
Article
De novo mutations disturb early brain development more frequently than common variants in schizophrenia.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2023, v. 192, n. 3/4, p. 62, doi. 10.1002/ajmg.b.32932
By:
- Itai, Toshiyuki;
- Jia, Peilin;
- Dai, Yulin;
- Chen, Jingchun;
- Chen, Xiangning;
- Zhao, Zhongming
Publication type:
Article
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
Published in:
Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01042-w
By:
- Hamanaka, Kohei;
- Miyake, Noriko;
- Mizuguchi, Takeshi;
- Miyatake, Satoko;
- Uchiyama, Yuri;
- Tsuchida, Naomi;
- Sekiguchi, Futoshi;
- Mitsuhashi, Satomi;
- Tsurusaki, Yoshinori;
- Nakashima, Mitsuko;
- Saitsu, Hirotomo;
- Yamada, Kohei;
- Sakamoto, Masamune;
- Fukuda, Hiromi;
- Ohori, Sachiko;
- Saida, Ken;
- Itai, Toshiyuki;
- Azuma, Yoshiteru;
- Koshimizu, Eriko;
- Fujita, Atsushi
Publication type:
Article
Predicting the intrauterine fetal death of fetuses with cystic hygroma in early pregnancy.
Published in:
Congenital Anomalies, 2018, v. 58, n. 5, p. 167, doi. 10.1111/cga.12269
By:
- Shimura, Mai;
- Ishikawa, Hiroshi;
- Nagase, Hiromi;
- Mochizuki, Akihiko;
- Sekiguchi, Futoshi;
- Koshimizu, Naho;
- Itai, Toshiyuki;
- Odagami, Mizuha
Publication type:
Article
A case of prenatal chronic intestinal pseudo‐obstruction associated with Leigh syndrome.
Published in:
2018
By:
- Itai, Toshiyuki;
- Ishikawa, Hiroshi;
- Kurosawa, Kenji;
- Tsuyusaki, Yu
Publication type:
Case Study
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.
Published in:
Clinical Genetics, 2022, v. 102, n. 1, p. 3, doi. 10.1111/cge.14133
By:
- Itai, Toshiyuki;
- Wang, Zheng;
- Nishimura, Gen;
- Ohashi, Hirofumi;
- Guo, Long;
- Wakano, Yasuhiro;
- Sugiura, Takahiro;
- Hayakawa, Hiromi;
- Okada, Mayumi;
- Saisu, Takashi;
- Kitta, Ayana;
- Doi, Hiroshi;
- Kurosawa, Kenji;
- Hotta, Yoshihiro;
- Hosono, Katsuhiro;
- Sato, Miho;
- Shimizu, Kenji;
- Takikawa, Kazuharu;
- Watanabe, Seiji;
- Ikeda, Naho
Publication type:
Article
Cerebrovascular diseases in two patients with entire NSD1 deletion.
Published in:
Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00151-z
By:
- Itai, Toshiyuki;
- Miyatake, Satoko;
- Hatano, Taku;
- Hattori, Nobutaka;
- Ohno, Atsuko;
- Aoki, Yusuke;
- Itomi, Kazuya;
- Mori, Harushi;
- Saitsu, Hirotomo;
- Matsumoto, Naomichi
Publication type:
Article
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
Published in:
Human Mutation, 2021, v. 42, n. 1, p. 66, doi. 10.1002/humu.24130
By:
- Itai, Toshiyuki;
- Hamanaka, Kohei;
- Sasaki, Kazunori;
- Wagner, Matias;
- Kotzaeridou, Urania;
- Brösse, 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
Publication type:
Article
Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses.
Published in:
Human Mutation, 2021, v. 42, n. 1, p. 50, doi. 10.1002/humu.24129
By:
- Uchiyama, Yuri;
- Yamaguchi, Daisuke;
- Iwama, Kazuhiro;
- Miyatake, Satoko;
- Hamanaka, Kohei;
- Tsuchida, Naomi;
- Aoi, Hiromi;
- Azuma, Yoshiteru;
- Itai, Toshiyuki;
- Saida, Ken;
- Fukuda, Hiromi;
- Sekiguchi, Futoshi;
- Sakaguchi, Tomohiro;
- Lei, Ming;
- Ohori, Sachiko;
- Sakamoto, Masamune;
- Kato, Mitsuhiro;
- Koike, Takayoshi;
- Takahashi, Yukitoshi;
- Tanda, Koichi
Publication type:
Article
Potential risks associated with laparoscopic gastrostomy in patients with the COL4A1 variant: Two case reports.
Published in:
2024
By:
- Deguchi, Koichi;
- Saka, Ryuta;
- Todo, Marie;
- Toyama, Chiyoshi;
- Watanabe, Miho;
- Masahata, Kazunori;
- Kamiyama, Masafumi;
- Tazuke, Yuko;
- Nabatame, Shin;
- Itai, Toshiyuki;
- Miyatake, Satoko;
- Matsumoto, Naomichi;
- Okuyama, Hiroomi
Publication type:
Case Study

Found: 12