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The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge–Weber syndrome
Nakashima, Mitsuko, Miyajima, Masakazu, Sugano, Hidenori, Iimura, Yasushi, Kato, Mitsuhiro, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Arai, Hajime, Matsumoto, Naomichi
Published in Journal of human genetics (01.12.2014)
Published in Journal of human genetics (01.12.2014)
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Journal Article
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb
Nakashima, Mitsuko, Saitsu, Hirotomo, Takei, Nobuyuki, Tohyama, Jun, Kato, Mitsuhiro, Kitaura, Hiroki, Shiina, Masaaki, Shirozu, Hiroshi, Masuda, Hiroshi, Watanabe, Keisuke, Ohba, Chihiro, Tsurusaki, Yoshinori, Miyake, Noriko, Zheng, Yingjun, Sato, Tatsuhiro, Takebayashi, Hirohide, Ogata, Kazuhiro, Kameyama, Shigeki, Kakita, Akiyoshi, Matsumoto, Naomichi
Published in Annals of neurology (01.09.2015)
Published in Annals of neurology (01.09.2015)
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Journal Article
Human genetic variation database, a reference database of genetic variations in the Japanese population
Higasa, Koichiro, Miyake, Noriko, Yoshimura, Jun, Okamura, Kohji, Niihori, Tetsuya, Saitsu, Hirotomo, Doi, Koichiro, Shimizu, Masakazu, Nakabayashi, Kazuhiko, Aoki, Yoko, Tsurusaki, Yoshinori, Morishita, Shinichi, Kawaguchi, Takahisa, Migita, Osuke, Nakayama, Keiko, Nakashima, Mitsuko, Mitsui, Jun, Narahara, Maiko, Hayashi, Keiko, Funayama, Ryo, Yamaguchi, Daisuke, Ishiura, Hiroyuki, Ko, Wen-Ya, Hata, Kenichiro, Nagashima, Takeshi, Yamada, Ryo, Matsubara, Yoichi, Umezawa, Akihiro, Tsuji, Shoji, Matsumoto, Naomichi, Matsuda, Fumihiko
Published in Journal of human genetics (01.06.2016)
Published in Journal of human genetics (01.06.2016)
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Journal Article
Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings
Ohashi, Kei, Fukuhara, Satomi, Miyachi, Taishi, Asai, Tomoko, Imaeda, Masayuki, Goto, Masahide, Kurokawa, Yoshie, Anzai, Tatsuya, Tsurusaki, Yoshinori, Miyake, Noriko, Matsumoto, Naomichi, Yamagata, Takanori, Saitoh, Shinji
Published in Journal of autism and developmental disorders (01.12.2021)
Published in Journal of autism and developmental disorders (01.12.2021)
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Journal Article
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
Tsurusaki, Yoshinori, Okamoto, Nobuhiko, Ohashi, Hirofumi, Kosho, Tomoki, Imai, Yoko, Hibi-Ko, Yumiko, Kaname, Tadashi, Naritomi, Kenji, Kawame, Hiroshi, Wakui, Keiko, Fukushima, Yoshimitsu, Homma, Tomomi, Kato, Mitsuhiro, Hiraki, Yoko, Yamagata, Takanori, Yano, Shoji, Mizuno, Seiji, Sakazume, Satoru, Ishii, Takuma, Nagai, Toshiro, Shiina, Masaaki, Ogata, Kazuhiro, Ohta, Tohru, Niikawa, Norio, Miyatake, Satoko, Okada, Ippei, Mizuguchi, Takeshi, Doi, Hiroshi, Saitsu, Hirotomo, Miyake, Noriko, Matsumoto, Naomichi
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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Journal Article
KDM6A Point Mutations Cause Kabuki Syndrome
Miyake, Noriko, Mizuno, Seiji, Okamoto, Nobuhiko, Ohashi, Hirofumi, Shiina, Masaaki, Ogata, Kazuhiro, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Saitsu, Hirotomo, Niikawa, Norio, Matsumoto, Naomichi
Published in Human mutation (01.01.2013)
Published in Human mutation (01.01.2013)
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Journal Article
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder
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
Published in Cell reports (Cambridge) (16.01.2018)
Published in Cell reports (Cambridge) (16.01.2018)
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Journal Article
Homozygous splicing mutation in NUP133 causes Galloway–Mowat syndrome
Fujita, Atsushi, Tsukaguchi, Hiroyasu, Koshimizu, Eriko, Nakazato, Hitoshi, Itoh, Kyoko, Kuraoka, Shohei, Komohara, Yoshihiro, Shiina, Masaaki, Nakamura, Shohei, Kitajima, Mika, Tsurusaki, Yoshinori, Miyatake, Satoko, Ogata, Kazuhiro, Iijima, Kazumoto, Matsumoto, Naomichi, Miyake, Noriko
Published in Annals of neurology (01.12.2018)
Published in Annals of neurology (01.12.2018)
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Journal Article
De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy
Nakashima, Mitsuko, Kato, Mitsuhiro, Aoto, Kazushi, Shiina, Masaaki, Belal, Hazrat, Mukaida, Souichi, Kumada, Satoko, Sato, Atsushi, Zerem, Ayelet, Lerman‐Sagie, Tally, Lev, Dorit, Leong, Huey Yin, Tsurusaki, Yoshinori, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Ogata, Kazuhiro, Saitsu, Hirotomo, Matsumoto, Naomichi
Published in Annals of neurology (01.04.2018)
Published in Annals of neurology (01.04.2018)
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Journal Article
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome
Miyatake, Satoko, Okamoto, Nobuhiko, Stark, Zornitza, Nabetani, Makoto, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Mizuguchi, Takeshi, Ohtake, Akira, Saitsu, Hirotomo, Matsumoto, Naomichi
Published in Journal of human genetics (01.08.2017)
Published in Journal of human genetics (01.08.2017)
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Journal Article
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation
Kato, Mitsuhiro, Yamagata, Takanori, Kubota, Masaya, Arai, Hiroshi, Yamashita, Sumimasa, Nakagawa, Taku, FujII, Takanari, Sugai, Kenji, Imai, Kaoru, Uster, Tami, Chitayat, David, Weiss, Shelly, Kashii, Hirofumi, Kusano, Ryosuke, Matsumoto, Ayumi, Nakamura, Kazuyuki, Oyazato, Yoshinobu, Maeno, Mari, Nishiyama, Kiyomi, Kodera, Hirofumi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saito, Kayoko, Hayasaka, Kiyoshi, Matsumoto, Naomichi, Saitsu, Hirotomo
Published in Epilepsia (Copenhagen) (01.07.2013)
Published in Epilepsia (Copenhagen) (01.07.2013)
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Journal Article
Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing
Suzuki, Toshifumi, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Saitsu, Hirotomo, Takeda, Satoru, Matsumoto, Naomichi
Published in Journal of human genetics (01.12.2014)
Published in Journal of human genetics (01.12.2014)
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Journal Article
Dietary Sodium Nitrite Causes Similar Modifications to Splenic Inflammatory Gene Expression as a High-Fat Diet
SUGIURA, Kosuke, TACHIBANA, Nobuhiko, OKUMURA, Yuushi, NIKAWA, Takeshi, TSURUSAKI, Yoshinori, OARADA, Motoko, HIRASAKA, Katsuya
Published in Journal of Nutritional Science and Vitaminology (01.01.2021)
Published in Journal of Nutritional Science and Vitaminology (01.01.2021)
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Journal Article
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing
Saitsu, Hirotomo, Akita, Tenpei, Tohyama, Jun, Goldberg-Stern, Hadassa, Kobayashi, Yu, Cohen, Roni, Kato, Mitsuhiro, Ohba, Chihiro, Miyatake, Satoko, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Fukuda, Atsuo, Matsumoto, Naomichi
Published in Scientific reports (19.10.2015)
Published in Scientific reports (19.10.2015)
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Journal Article
De novo KCNT1 mutations in early‐onset epileptic encephalopathy
Ohba, Chihiro, Kato, Mitsuhiro, Takahashi, Nobuya, Osaka, Hitoshi, Shiihara, Takashi, Tohyama, Jun, Nabatame, Shin, Azuma, Junji, Fujii, Yuji, Hara, Munetsugu, Tsurusawa, Reimi, Inoue, Takahito, Ogata, Reina, Watanabe, Yoriko, Togashi, Noriko, Kodera, Hirofumi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Tanaka, Fumiaki, Saitsu, Hirotomo, Matsumoto, Naomichi
Published in Epilepsia (Copenhagen) (01.09.2015)
Published in Epilepsia (Copenhagen) (01.09.2015)
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Journal Article
Early onset epileptic encephalopathy caused by de novo SCN8A mutations
Ohba, Chihiro, Kato, Mitsuhiro, Takahashi, Satoru, Lerman‐Sagie, Tally, Lev, Dorit, Terashima, Hiroshi, Kubota, Masaya, Kawawaki, Hisashi, Matsufuji, Mayumi, Kojima, Yasuko, Tateno, Akihiko, Goldberg‐Stern, Hadassa, Straussberg, Rachel, Marom, Dafna, Leshinsky‐Silver, Esther, Nakashima, Mitsuko, Nishiyama, Kiyomi, Tsurusaki, Yoshinori, Miyake, Noriko, Tanaka, Fumiaki, Matsumoto, Naomichi, Saitsu, Hirotomo
Published in Epilepsia (Copenhagen) (01.07.2014)
Published in Epilepsia (Copenhagen) (01.07.2014)
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Journal Article
De novo SOX11 mutations cause Coffin–Siris syndrome
Tsurusaki, Yoshinori, Koshimizu, Eriko, Ohashi, Hirofumi, Phadke, Shubha, Kou, Ikuyo, Shiina, Masaaki, Suzuki, Toshifumi, Okamoto, Nobuhiko, Imamura, Shintaro, Yamashita, Michiaki, Watanabe, Satoshi, Yoshiura, Koh-ichiro, Kodera, Hirofumi, Miyatake, Satoko, Nakashima, Mitsuko, Saitsu, Hirotomo, Ogata, Kazuhiro, Ikegawa, Shiro, Miyake, Noriko, Matsumoto, Naomichi
Published in Nature communications (02.06.2014)
Published in Nature communications (02.06.2014)
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Journal Article
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
Miyake, Noriko, Tsukaguchi, Hiroyasu, Koshimizu, Eriko, Shono, Akemi, Matsunaga, Satoko, Shiina, Masaaki, Mimura, Yasuhiro, Imamura, Shintaro, Hirose, Tomonori, Okudela, Koji, Nozu, Kandai, Akioka, Yuko, Hattori, Motoshi, Yoshikawa, Norishige, Kitamura, Akiko, Cheong, Hae Il, Kagami, Shoji, Yamashita, Michiaki, Fujita, Atsushi, Miyatake, Satoko, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Saitsu, Hirotomo, Ohashi, Kenichi, Imamoto, Naoko, Ryo, Akihide, Ogata, Kazuhiro, Iijima, Kazumoto, Matsumoto, Naomichi
Published in American journal of human genetics (01.10.2015)
Published in American journal of human genetics (01.10.2015)
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Journal Article
Further delineation of SET‐related intellectual disability syndrome
Shono, Kenta, Enomoto, Yumi, Tsurusaki, Yoshinori, Kumaki, Tatsuro, Masuno, Mitsuo, Kurosawa, Kenji
Published in American journal of medical genetics. Part A (01.05.2022)
Published in American journal of medical genetics. Part A (01.05.2022)
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Journal Article