Intellectual disability and microcephaly associated with a novel CHAMP1 mutation by Yuta Asakura, Hitoshi Osaka, Hiromi Aoi, Takeshi Mizuguchi, Naomichi Matsumoto, Takanori Yamagata

Get full text

Case report: Neuronal intranuclear inclusion disease initially mimicking reversible cerebral vasoconstriction syndrome: serial neuroimaging findings during an 11-year follow-up by Gha-Hyun Lee, Eugene Jung, Na-Yeon Jung, Takeshi Mizuguchi, Naomichi Matsumoto, Eun-Joo Kim

Get full text

Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads by Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi, Satoko Miyatake, Tomoko Toyota, Hiroaki Adachi, Yoko Oma, Yoshihiro Kino, Hiroaki Mitsuhashi, Naomichi Matsumoto

Get full text

Distal 2q duplication in a patient with intellectual disability by Toshifumi Suzuki, Hitoshi Osaka, Noriko Miyake, Atsushi Fujita, Yuri Uchiyama, Rie Seyama, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Satoru Takeda, Naomichi Matsumoto

Get full text

Synchronous heart rate reduction with suppression‐burst pattern in KCNT1‐related developmental and epileptic encephalopathies by Kaoru Yamamoto, Shimpei Baba, Takashi Saito, Eiji Nakagawa, Kenji Sugai, Masaki Iwasaki, Atsushi Fujita, Hiromi Fukuda, Takeshi Mizuguchi, Mitsuhiro Kato, Naomichi Matsumoto, Masayuki Sasaki

Get full text

Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet’s disease by Naomi Tsuchida, Yohei Kirino, Yutaro Soejima, Masafumi Onodera, Katsuhiro Arai, Eiichiro Tamura, Takashi Ishikawa, Toshinao Kawai, Toru Uchiyama, Shigeru Nomura, Daisuke Kobayashi, Masataka Taguri, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hideaki Nakajima, Satoko Miyatake, Naomichi Matsumoto

Get full text

Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes by 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

Get full text

A novel NONO variant that causes developmental delay and cardiac phenotypes by 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

Get full text

A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association by Rie Seyama, Masashi Nishikawa, Yuri Uchiyama, Keisuke Hamada, Yuka Yamamoto, Masahiro Takeda, Takanori Ochi, Monami Kishi, Toshifumi Suzuki, Kohei Hamanaka, Atsushi Fujita, Naomi Tsuchida, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Takashi Yao, Hidenori Ito, Atsuo Itakura, Kazuhiro Ogata, Koh-ichi Nagata, Naomichi Matsumoto

Get full text

A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants by Kazuo Kodama, MD, Hiromi Aoyama, MD, PhD, Yoshimi Murakami, MD, Jun-ichi Takanashi, MD, PhD, Eriko Koshimizu, PhD, Satoko Miyatake, MD, PhD, Kazuhiro Iwama, MD, PhD, Takeshi Mizuguchi, MD, PhD, Naomichi Matsumoto, MD, PhD, Taku Omata, MD, PhD

Get full text

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

Get full text

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation by Ken Saida, Tokiko Fukuda, Daryl A. Scott, Daryl A. Scott, Daryl A. Scott, Toru Sengoku, Kazuhiro Ogata, Annarita Nicosia, Annarita Nicosia, Andres Hernandez-Garcia, Seema R. Lalani, Seema R. Lalani, Mahshid S. Azamian, Haley Streff, Haley Streff, Pengfei Liu, Pengfei Liu, Hongzheng Dai, Hongzheng Dai, Takeshi Mizuguchi, Satoko Miyatake, Miki Asahina, Tsutomu Ogata, Noriko Miyake, Naomichi Matsumoto

Get full text

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants by Kohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi, Satoko Miyatake, Yuri Uchiyama, Naomi Tsuchida, Futoshi Sekiguchi, Satomi Mitsuhashi, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Kohei Yamada, Masamune Sakamoto, Hiromi Fukuda, Sachiko Ohori, Ken Saida, Toshiyuki Itai, Yoshiteru Azuma, Eriko Koshimizu, Atsushi Fujita, Biray Erturk, Yoko Hiraki, Gaik-Siew Ch’ng, Mitsuhiro Kato, Nobuhiko Okamoto, Atsushi Takata, Naomichi Matsumoto

Get full text

Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing by Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Hiroshi Doi, Masaki Okubo, Taishi Wada, Kohei Hamanaka, Naohisa Ueda, Hitaru Kishida, Gaku Minase, Atsuhiro Matsuno, Minori Kodaira, Katsuhisa Ogata, Rumiko Kato, Atsuhiko Sugiyama, Ayako Sasaki, Takabumi Miyama, Mai Satoh, Yuri Uchiyama, Naomi Tsuchida, Haruka Hamanoue, Kazuharu Misawa, Kiyoshi Hayasaka, Yoshiki Sekijima, Hiroaki Adachi, Kunihiro Yoshida, Fumiaki Tanaka, Takeshi Mizuguchi, Naomichi Matsumoto

Get full text

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

Get full text

An integrated genetic analysis of epileptogenic brain malformed lesions by Atsushi Fujita, Mitsuhiro Kato, Hidenori Sugano, Yasushi Iimura, Hiroharu Suzuki, Jun Tohyama, Masafumi Fukuda, Yosuke Ito, Shimpei Baba, Tohru Okanishi, Hideo Enoki, Ayataka Fujimoto, Akiyo Yamamoto, Kentaro Kawamura, Shinsuke Kato, Ryoko Honda, Tomonori Ono, Hideaki Shiraishi, Kiyoshi Egawa, Kentaro Shirai, Shinji Yamamoto, Itaru Hayakawa, Hisashi Kawawaki, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Satoko Miyatake, Takeshi Mizuguchi, Mitsuko Nakashima, Hirotomo Saitsu, Noriko Miyake, Akiyoshi Kakita, Naomichi Matsumoto

Get full text

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

Get full text