A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder

by Takuya Hiraide, Seiji Watanabe, Tomoko Matsubayashi, Kumiko Yanagi, Mitsuko Nakashima, Tsutomu Ogata, Hirotomo Saitsu
Published 2020-03-01

De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences

by Takuya Hiraide, Ayako Hattori, Daisuke Ieda, Ikumi Hori, Shinji Saitoh, Mitsuko Nakashima, Hirotomo Saitsu
Published 2019-09-01

Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder.

by Eriko Koshimizu, Satoko Miyatake, Nobuhiko Okamoto, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto
Published 2013-01-01

Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant

by Masataka Fukuoka, Shin Okazaki, Kiyohiro Kim, Megumi Nukui, Takeshi Inoue, Ichiro Kuki, Hisashi Kawawaki, Mitsuko Nakashima, Naomichi Matsumoto
Published 2021-03-01

CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variant.

by Akira Ikeya, Mitsuko Nakashima, Miho Yamashita, Keisuke Kakizawa, Yuta Okawa, Hirotomo Saitsu, Shigekazu Sasaki, Hironobu Sasano, Takafumi Suda, Yutaka Oki
Published 2020-01-01

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination

by Sachiko Miyamoto, Mitsuko Nakashima, Tsukasa Ohashi, Takuya Hiraide, Kenji Kurosawa, Toshiyuki Yamamoto, Junichi Takanashi, Hitoshi Osaka, Ken Inoue, Takehiro Miyazaki, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu
Published 2019-08-01

An aberrant splice acceptor site due to a novel intronic nucleotide substitution in MSX1 gene is the cause of congenital tooth agenesis in a Japanese family.

by Tadashi Tatematsu, Masashi Kimura, Mitsuko Nakashima, Junichiro Machida, Seishi Yamaguchi, Akio Shibata, Hiroki Goto, Atsuo Nakayama, Yujiro Higashi, Hitoshi Miyachi, Kazuo Shimozato, Naomichi Matsumoto, Yoshihito Tokita
Published 2015-01-01

Association of early-onset epileptic encephalopathy with involuntary movements – Case series and literature review

by Atsuko Arisaka, Mitsuko Nakashima, Satoko Kumada, Kenji Inoue, Hiroya Nishida, Hideaki Mashimo, Hirofumi Kashii, Mitsuhiro Kato, Koichi Maruyama, Akihisa Okumura, Hirotomo Saitsu, Naomichi Matsumoto, Mitsumasa Fukuda
Published 2021-01-01

A novel LRP6 variant in a Japanese family with oligodontia

by Hiroki Goto, Masashi Kimura, Junichiro Machida, Akiko Ota, Mitsuko Nakashima, Naomi Tsuchida, Junya Adachi, Yoshihiko Aoki, Tadashi Tatematsu, Katsu Takahashi, Masatoshi Sana, Atsuo Nakayama, Shintaro Suzuki, Toru Nagao, Naomichi Matsumoto, Yoshihito Tokita
Published 2021-07-01

ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice

by Kazushi Aoto, Mitsuhiro Kato, Tenpei Akita, Mitsuko Nakashima, Hiroki Mutoh, Noriyuki Akasaka, Jun Tohyama, Yoshiko Nomura, Kyoko Hoshino, Yasuhiko Ago, Ryuta Tanaka, Orna Epstein, Revital Ben-Haim, Eli Heyman, Takehiro Miyazaki, Hazrat Belal, Shuji Takabayashi, Chihiro Ohba, Atsushi Takata, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu
Published 2021-04-01

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

by Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Hideaki Shiraishi, Yutaka Nonoda, Shinichi Magara, Jun Tohyama, Nobuhiko Okamoto, Takeshi Kumagai, Konomi Shimoda, Yoshiya Yukitake, Daigo Kajikawa, Tomohiro Morio, Ayako Hattori, Motoo Nakagawa, Naoki Ando, Ichizo Nishino, Mitsuhiro Kato, Tatsuhiko Tsunoda, Hirotomo Saitsu, Yonehiro Kanemura, Mami Yamasaki, Kenjiro Kosaki, Naomichi Matsumoto, Tamotsu Yoshimori, Shinji Saitoh
Published 2017-06-01

Clinical and genetic characteristics of patients with Doose syndrome

by Nodoka Hinokuma, Mitsuko Nakashima, Hideyuki Asai, Kazuyuki Nakamura, Shinjiro Akaboshi, Masataka Fukuoka, Masami Togawa, Shingo Oana, Koyo Ohno, Mariko Kasai, Chikako Ogawa, Kazuna Yamamoto, Kiyohito Okumiya, Pin Fee Chong, Ryutaro Kira, Shumpei Uchino, Tetsuhiro Fukuyama, Tomoe Shinagawa, Yohane Miyata, Yuichi Abe, Akira Hojo, Kozue Kobayashi, Yoshihiro Maegaki, Nobutsune Ishikawa, Hiroko Ikeda, Masano Amamoto, Takeshi Mizuguchi, Kazuhiro Iwama, Toshiyuki Itai, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato
Published 2020-09-01

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

by Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Satoko Miyatake, Eriko Koshimizu, Itaru Kushima, Takashi Okada, Mako Morikawa, Yota Uno, Kanako Ishizuka, Kazuhiko Nakamura, Masatsugu Tsujii, Takeo Yoshikawa, Tomoko Toyota, Nobuhiko Okamoto, Yoko Hiraki, Ryota Hashimoto, Yuka Yasuda, Shinji Saitoh, Kei Ohashi, Yasunari Sakai, Shouichi Ohga, Toshiro Hara, Mitsuhiro Kato, Kazuyuki Nakamura, Aiko Ito, Chizuru Seiwa, Emi Shirahata, Hitoshi Osaka, Ayumi Matsumoto, Saoko Takeshita, Jun Tohyama, Tomoko Saikusa, Toyojiro Matsuishi, Takumi Nakamura, Takashi Tsuboi, Tadafumi Kato, Toshifumi Suzuki, Hirotomo Saitsu, Mitsuko Nakashima, Takeshi Mizuguchi, Fumiaki Tanaka, Norio Mori, Norio Ozaki, Naomichi Matsumoto
Published 2018-01-01

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

by Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto
Published 2019-06-01