-
Mosaic deletions detected by genome sequencing in two families.
国際誌
Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Nobuhiko Okamoto, Ayataka Fujimoto, Hideo Enoki, Eriko Koshimizu, Atsushi Fujita, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumoto
Journal of human genetics
2025年4月
-
Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature.
国際誌
Takeshi Mizuguchi, Nobuhiko Okamoto, Taiki Hara, Naoto Nishimura, Masamune Sakamoto, Li Fu, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Eriko Koshimizu, Atsushi Fujita, Kazuharu Misawa, Kazuhiko Nakabayashi, Satoko Miyatake, Naomichi Matsumoto
Clinical epigenetics
17
(
1
)
27
-
27
2025年2月
-
A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional Analysis.
国際誌
Shinji Masuko, Mitsuto Sato, Katsuya Nakamura, Kohei Hamanaka, Satoko Miyatake, Yuji Inaba, Tomoki Kosho, Naomichi Matsumoto, Yoshiki Sekijima
Molecular genetics & genomic medicine
12
(
11
)
e70044
2024年11月
-
Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies.
国際誌
Sachiko Ohori, Hironao Numabe, Satomi Mitsuhashi, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Atsushi Fujita, Naomichi Matsumoto
Genomics
110894
-
110894
2024年7月
-
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese
Satoko Miyatake, Hiroshi Doi, Hiroaki Yaguchi, Eriko Koshimizu, Naoki Kihara, Tomoyasu Matsubara, Yasuko Mori, Kenjiro Kunieda, Yusaku Shimizu, Tomoko Toyota, Shinichi Shirai, Masaaki Matsushima, Masaki Okubo, Taishi Wada, Misako Kunii, Ken Johkura, Ryosuke Miyamoto, Yusuke Osaki, Takabumi Miyama, Mai Satoh, Atsushi Fujita, Yuri Uchiyama, Naomi Tsuchida, Kazuharu Misawa, Kohei Hamanaka, Haruka Hamanoue, Takeshi Mizuguchi, Hiroyuki Morino, Yuishin Izumi, Takayoshi Shimohata, Kunihiro Yoshida, Hiroaki Adachi, Fumiaki Tanaka, Ichiro Yabe, Naomichi Matsumoto
Journal of Neurology, Neurosurgery & Psychiatry
jnnp
-
2024
2024年5月
-
Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B.
国際誌
Naoto Sugeno, Satoko Kumada, Hirofumi Kashii, Jun Ikezawa, Toshitaka Kawarai, Takaaki Nakamura, Ako Miyata, Shun Ishiyama, Kazuki Sato, Shun Yoshida, Hutoshi Sekiguchi, Kohei Hamanaka, Satoko Miyatake, Noriko Miyake, Naomichi Matsumoto, Hiroyuki Akagawa, Kenjiro Kosaki, Hiroshi Yoshihashi, Takafumi Hasegawa, Masashi Aoki
Parkinsonism & related disorders
124
107018
-
107018
2024年5月
-
軽度知的障害を合併したATL1遺伝子のp.Arg239Cysによる遺伝性痙性対麻痺の1例
峯村 はる香, 山岸 裕和, 小坂 仁, 渡邉 英明, 濱中 耕平, 宮武 聡子, 松本 直通, 田島 敏広
小児科
65
(
2
)
189
-
192
2024年2月
-
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.
国際誌
Yuta Inoue, Naomi Tsuchida, Chong Ae Kim, Bruno de Oliveira Stephan, Matheus Augusto Araujo Castro, Rachel Sayuri Honjo, Debora Romeo Bertola, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumoto
Journal of human genetics
2024年1月
-
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling.
国際誌
Eriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Journal of human genetics
2024年1月
-
Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report.
国際誌
Rie Tsuburaya-Suzuki, Sachiko Ohori, Kohei Hamanaka, Atsushi Fujita, Naomichi Matsumoto, Masako Kinoshita
Frontiers in genetics
15
1410979
-
1410979
2024年
-
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.
国際誌
Yasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka, Keita Miyoshi, Keiji Tsuchimoto, Satoshi Sunada, Toshiyuki Itai, Masamune Sakamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Takeshi Mizuguchi, Yasuhito Kato, Kuniaki Saito, Kazuhiro Ogata, Naomichi Matsumoto
Journal of human genetics
2023年11月
-
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation.
国際誌
Takeshi Mizuguchi, Tomoko Toyota, Eriko Koshimizu, Shinichi Kameyama, Hiromi Fukuda, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Kazuharu Misawa, Satoko Miyatake, Hiroaki Adachi, Naomichi Matsumoto
Journal of human genetics
2023年8月
-
A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association
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
Scientific Reports
13
(
1
)
2023年6月
-
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.
国際誌
Hiromi Fukuda, Takeshi Mizuguchi, Hiroshi Doi, Shinichi Kameyama, Misako Kunii, Hideto Joki, Tatsuya Takahashi, Hiroyasu Komiya, Mei Sasaki, Yosuke Miyaji, Sachiko Ohori, Eriko Koshimizu, Yuri Uchiyama, Naomi Tsuchida, Atsushi Fujita, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Fumiaki Tanaka, Naomichi Matsumoto
Journal of human genetics
68
(
10
)
689
-
697
2023年6月
-
Biallelic structural variations within<i>FGF12</i>detected by long-read sequencing in epilepsy
Sachiko Ohori, Akihiko Miyauchi, Hitoshi Osaka, Charles Marques Lourenco, Naohiro Arakaki, Toru Sengoku, Kazuhiro Ogata, Rachel Sayuri Honjo, Chong Ae Kim, Satomi Mitsuhashi, Martin C Frith, Rie Seyama, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Kuniaki Saito, Atsushi Fujita, Naomichi Matsumoto
Life Science Alliance
6
(
8
)
e202302025
-
e202302025
2023年6月
-
An integrated genetic analysis of epileptogenic brain malformed lesions
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
Acta Neuropathologica Communications
11
(
1
)
2023年3月
-
Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans.
国際誌
Kohei Hamanaka, Daisuke Yamauchi, Eriko Koshimizu, Kei Watase, Kaoru Mogushi, Kinya Ishikawa, Hidehiro Mizusawa, Naomi Tsuchida, Yuri Uchiyama, Atsushi Fujita, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Genome research
33
(
3
)
435
-
447
2023年3月
-
A novel NONO variant that causes developmental delay and cardiac phenotypes
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
Scientific Reports
13
(
1
)
2023年1月
-
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism.
国際誌
Rie Seyama, Yuri Uchiyama, Yosuke Kaneshi, Kohei Hamanaka, Atsushi Fujita, Naomi Tsuchida, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Atsuo Itakura, Nobuhiko Okamoto, Naomichi Matsumoto
Journal of human genetics
68
(
5
)
363
-
367
2023年1月
-
Three <scp>KINSSHIP</scp> syndrome patients with mosaic and germline <scp> <i>AFF3</i> </scp> variants
Yuta Inoue, Naomi Tsuchida, Nobuhiko Okamoto, Shimakawa Shuichi, Kei Ohashi, Shinji Saitoh, Atsushi Ogawa, Keisuke Hamada, Masamune Sakamoto, Noriko Miyake, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Kazuhiro Ogata, Yuri Uchiyama, Naomichi Matsumoto
Clinical Genetics
2023年1月
-
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8.
国際誌
Masamune Sakamoto, Toshihide Shiiki, Shuji Matsui, Nobuhiko Okamoto, Eriko Koshimizu, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Takeshi Mizuguchi, Naomichi Matsumoto
Journal of human genetics
68
(
4
)
247
-
253
2022年12月
-
[A case of generalized dystonia DYT28 with a novel de novo mutation in the KMT2B gene].
Kenju Hara, Haruka Ouchi, Kohei Hamanaka, Satoko Miyatake, Naomichi Matsumoto
Rinsho shinkeigaku = Clinical neurology
62
(
11
)
856
-
859
2022年11月
-
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
国際誌
Masamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, Akihiko Ishiyama, Hirofumi Komaki, Takashi Saito, Eri Takeshita, Yuko Shimizu-Motohashi, Kazuhiro Haginoya, Tomoko Kobayashi, Tomohide Goto, Yu Tsuyusaki, Mizue Iai, Kenji Kurosawa, Hitoshi Osaka, Jun Tohyama, Yu Kobayashi, Nobuhiko Okamoto, Yume Suzuki, Satoko Kumada, Kenji Inoue, Hideaki Mashimo, Atsuko Arisaka, Ichiro Kuki, Harumi Saijo, Kenji Yokochi, Mitsuhiro Kato, Yuji Inaba, Yuko Gomi, Shinji Saitoh, Kentaro Shirai, Masafumi Morimoto, Yuishin Izumi, Yoriko Watanabe, Shin-Ichiro Nagamitsu, Yasunari Sakai, Shinobu Fukumura, Kazuhiro Muramatsu, Tomomi Ogata, Keitaro Yamada, Keiko Ishigaki, Kyoko Hirasawa, Konomi Shimoda, Manami Akasaka, Kosuke Kohashi, Takafumi Sakakibara, Masashi Ikuno, Noriko Sugino, Takahiro Yonekawa, Semra Gürsoy, Tayfun Cinleti, Chong Ae Kim, Keng Wee Teik, Chan Mei Yan, Muzhirah Haniffa, Chihiro Ohba, Shuuichi Ito, Hirotomo Saitsu, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake, Naomichi Matsumoto
Genetics in medicine : official journal of the American College of Medical Genetics
24
(
12
)
2453
-
2463
2022年10月
-
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
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
npj Genomic Medicine
7
(
1
)
2022年10月
-
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi, Maha S. Zaki, Thomas J. O’Brien, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gulsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J. Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, David Murphy, Natalia Dominik, Hasnaa M. Elbendary, Karima Rafat, Sanem Yilmaz, Seda Kanmaz, Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhas, Tamison Jewett, Rachel E. Goldberg, Hanan Shamseldin, Eirik Frengen, Doriana Misceo, Petter Strømme, José Ricardo Magliocco Ceroni, Chong Ae Kim, Gozde Yesil, Esma Sengenc, Serhat Guler, Mariam Hull, Mered Parnes, Dilek Aktas, Banu Anlar, Yavuz Bayram, Davut Pehlivan, Jennifer E. Posey, Shahryar Alavi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama Alabdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M. Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S. Alkuraya, Joseph G. Gleeson, Kristin G. Monaghan, Katherine G. Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, André E.X. Brown, James R. Lupski, Henry Houlden, Naomichi Matsumoto
Genetics in Medicine
2022年10月
-
Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype.
国際誌
Shinichi Kameyama, Takeshi Mizuguchi, Hiroshi Doi, Shigeru Koyano, Masaki Okubo, Mikiko Tada, Hiroshi Shimizu, Hiromi Fukuda, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Atsushi Fujita, Kazuharu Misawa, Satoko Miyatake, Kazuaki Kanai, Fumiaki Tanaka, Naomichi Matsumoto
Genomics
114
(
5
)
110469
-
110469
2022年8月
-
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.
国際誌
Rie Seyama, Yuri Uchiyama, José Ricard Magliocco Ceroni, Veronica Eun Hue Kim, Isabel Furquim, Rachel Sayuri Honjo, Matheus Augusto Araujo Castro, Lucas Vieira Lacerda Pires, Hiromi Aoi, Kazuhiro Iwama, Kohei Hamanaka, Atsushi Fujita, Naomi Tsuchida, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Atsuo Itakura, Débora R Bertola, Chong Ae Kim, Naomichi Matsumoto
Genomics
114
(
5
)
110468
-
110468
2022年8月
-
意識障害と原因不明の慢性硬膜下血腫を発症したVAMP2遺伝子異常症の1例
大原 智子, 濱中 耕平, 中島 光子, 白井 育子, 有坂 敦子, 田村 友美恵, 眞下 秀明, 柏井 洋文, 星野 愛, 福田 光成, 熊田 聡子, 松本 直通, 加藤 光広
脳と発達
54
(
4
)
293
-
293
2022年7月
-
Actin-binding protein filamin-A drives tau aggregation and contributes to progressive supranuclear palsy pathology.
国際誌
Koyo Tsujikawa, Kohei Hamanaka, Yuichi Riku, Yuki Hattori, Norikazu Hara, Yohei Iguchi, Shinsuke Ishigaki, Atsushi Hashizume, Satoko Miyatake, Satomi Mitsuhashi, Yu Miyazaki, Mayumi Kataoka, Li Jiayi, Keizo Yasui, Satoshi Kuru, Haruki Koike, Kenta Kobayashi, Naruhiko Sahara, Norio Ozaki, Mari Yoshida, Akiyoshi Kakita, Yuko Saito, Yasushi Iwasaki, Akinori Miyashita, Takeshi Iwatsubo, Takeshi Ikeuchi, Takaki Miyata, Gen Sobue, Naomichi Matsumoto, Kentaro Sahashi, Masahisa Katsuno
Science advances
8
(
21
)
eabm5029
2022年5月
-
Monogenic causes of pigmentary mosaicism.
査読
国際誌
Ken Saida, Pin Fee Chong, Asuka Yamaguchi, Naka Saito, Hajime Ikehara, Eriko Koshimizu, Rie Miyata, Akira Ishiko, Kazuyuki Nakamura, Hidenori Ohnishi, Kei Fujioka, Takafumi Sakakibara, Hideo Asada, Kohei Ogawa, Kyoko Kudo, Eri Ohashi, Michiko Kawai, Yuichi Abe, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Mitsuhiro Kato, Ryutaro Kira, Naomichi Matsumoto
Human genetics
141
(
11
)
1771
-
1784
2022年5月
-
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.
国際誌
Satoko Miyatake, Kunihiro Yoshida, Eriko Koshimizu, Hiroshi Doi, Mitsunori Yamada, Yosuke Miyaji, Naohisa Ueda, Jun Tsuyuzaki, Minori Kodaira, Hiroyuki Onoue, Masataka Taguri, Shintaro Imamura, Hiromi Fukuda, Kohei Hamanaka, Atsushi Fujita, Mai Satoh, Takabumi Miyama, Nobuko Watanabe, Yusuke Kurita, Masaki Okubo, Kenichi Tanaka, Hitaru Kishida, Shigeru Koyano, Tatsuya Takahashi, Yoya Ono, Kazuhiro Higashida, Nobuaki Yoshikura, Katsuhisa Ogata, Rumiko Kato, Naomi Tsuchida, Yuri Uchiyama, Noriko Miyake, Takayoshi Shimohata, Fumiaki Tanaka, Takeshi Mizuguchi, Naomichi Matsumoto
Brain : a journal of neurology
145
(
3
)
1139
-
1150
2022年4月
-
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
国際誌
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
Genome medicine
14
(
1
)
40
-
40
2022年4月
-
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
国際誌
Kohei Hamanaka, Keita Miyoshi, Jia-Hui Sun, Keisuke Hamada, Takao Komatsubara, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Atsushi Fujita, Takeshi Mizuguchi, Benedicte Gerard, Allan Bayat, Berardo Rinaldi, Mitsuhiro Kato, Jun Tohyama, Kazuhiro Ogata, Yun Stone Shi, Kuniaki Saito, Satoko Miyatake, Naomichi Matsumoto
Human genetics
141
(
2
)
283
-
293
2022年1月
-
Severe cardiac defect in Cornelia de Lange syndrome from a novel SMC1A variant.
国際誌
Yutaka Odanaka, Akira Ashida, Shintaro Nemoto, Kohei Hamanaka, Naomichi Matsumoto
Pediatrics international : official journal of the Japan Pediatric Society
64
(
1
)
e15031
2022年1月
-
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.
国際誌
Kana Kitayama, Tomoya Ishiguro, Masaki Komiyama, Takayuki Morisaki, Hiroko Morisaki, Gaku Minase, Kohei Hamanaka, Satoko Miyatake, Naomichi Matsumoto, Masaru Kato, Toru Takahashi, Tohru Yorifuji
BMC medical genomics
14
(
1
)
288
-
288
2021年12月
-
Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing.
国際誌
Hiromi Fukuda, Daisuke Yamaguchi, Kristofor Nyquist, Yasushi Yabuki, Satoko Miyatake, Yuri Uchiyama, Kohei Hamanaka, Ken Saida, Eriko Koshimizu, Naomi Tsuchida, Atsushi Fujita, Satomi Mitsuhashi, Kazuyuki Ohbo, Yuki Satake, Jun Sone, Hiroshi Doi, Keisuke Morihara, Tomoko Okamoto, Yuji Takahashi, Aaron M Wenger, Norifumi Shioda, Fumiaki Tanaka, Naomichi Matsumoto, Takeshi Mizuguchi
Clinical epigenetics
13
(
1
)
204
-
204
2021年11月
-
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms.
国際誌
Rie Seyama, Naomi Tsuchida, Yasuyuki Okada, Sonoko Sakata, Keisuke Hamada, Yoshiteru Azuma, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Atsuo Itakura, Satoshi Okada, Nobuhiko Okamoto, Kazuhiro Ogata, Yuri Uchiyama, Naomichi Matsumoto
Journal of human genetics
67
(
3
)
157
-
164
2021年11月
-
Pathogenic variants in the SMN complex gene GEMIN5 cause cerebellar atrophy.
国際誌
Ken Saida, Junya Tamaoki, Masayuki Sasaki, Muzhirah Haniffa, Eriko Koshimizu, Toru Sengoku, Hiroki Maeda, Masahiro Kikuchi, Haruna Yokoyama, Masamune Sakamoto, Kazuhiro Iwama, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Kazuhiro Ogata, Noriko Miyake, Satoko Miyatake, Makoto Kobayashi, Naomichi Matsumoto
Clinical genetics
100
(
6
)
722
-
730
2021年9月
-
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features.
国際誌
Shinichi Kameyama, Takeshi Mizuguchi, Hiromi Fukuda, Lip Hen Moey, Wee Teik Keng, Nobuhiko Okamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Naomichi Matsumoto
Journal of human genetics
67
(
3
)
169
-
173
2021年9月
-
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.
国際誌
Masamune Sakamoto, Kazunori Sasaki, Atsushi Sugie, Yohei Nitta, Tetsuaki Kimura, Semra Gürsoy, Tayfun Cinleti, Mizue Iai, Toru Sengoku, Kazuhiro Ogata, Atsushi Suzuki, Nobuhiko Okamoto, Kazuhiro Iwama, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Satoko Miyatake, Takeshi Mizuguchi, Masataka Taguri, Shuuichi Ito, Hidehisa Takahashi, Noriko Miyake, Naomichi Matsumoto
Human molecular genetics
31
(
1
)
69
-
81
2021年8月
-
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
国際誌
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
Journal of medical genetics
58
(
8
)
505
-
513
2021年8月
-
Spastic paraplegia-46の1例
横井 美央, 岩中 行己男, 成毛 哲思, 濱中 耕平, 宮武 聡子, 松本 直通, 荒川 修治, 岡田 和将, 足立 弘明
臨床神経学
61
(
8
)
572
-
572
2021年8月
-
Novel CLTC variants cause new brain and kidney phenotypes.
国際誌
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
Journal of human genetics
67
(
1
)
1
-
7
2021年7月
-
Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.
国際誌
Masaki Nishioka, An-A Kazuno, Takumi Nakamura, Naomi Sakai, Takashi Hayama, Kumiko Fujii, Koji Matsuo, Atsuko Komori, Mizuho Ishiwata, Yoshinori Watanabe, Takashi Oka, Nana Matoba, Muneko Kataoka, Ahmed N Alkanaq, Kohei Hamanaka, Takashi Tsuboi, Toru Sengoku, Kazuhiro Ogata, Nakao Iwata, Masashi Ikeda, Naomichi Matsumoto, Tadafumi Kato, Atsushi Takata
Nature communications
12
(
1
)
3750
-
3750
2021年6月
-
Refinement of the clinical variant interpretation framework by statistical evidence and machine learning
査読
国際誌
Atsushi Takata, Kohei Hamanaka, Naomichi Matsumoto
Med
2
(
5
)
611
-
632
2021年3月
-
De novo ATP1A3 variants cause polymicrogyria.
国際誌
Satoko Miyatake, Mitsuhiro Kato, Takuma Kumamoto, Tomonori Hirose, Eriko Koshimizu, Takaaki Matsui, Hideyuki Takeuchi, Hiroshi Doi, Keisuke Hamada, Mitsuko Nakashima, Kazunori Sasaki, Akio Yamashita, Atsushi Takata, Kohei Hamanaka, Mai Satoh, Takabumi Miyama, Yuri Sonoda, Momoko Sasazuki, Hiroyuki Torisu, Toshiro Hara, Yasunari Sakai, Yushi Noguchi, Mazumi Miura, Yoko Nishimura, Kazuyuki Nakamura, Hideyuki Asai, Nodoka Hinokuma, Fuyuki Miya, Tatsuhiko Tsunoda, Masami Togawa, Yukihiro Ikeda, Nobusuke Kimura, Kaoru Amemiya, Asako Horino, Masataka Fukuoka, Hiroko Ikeda, Goni Merhav, Nina Ekhilevitch, Masaki Miura, Takeshi Mizuguchi, Noriko Miyake, Atsushi Suzuki, Shouichi Ohga, Hirotomo Saitsu, Hidehisa Takahashi, Fumiaki Tanaka, Kazuhiro Ogata, Chiaki Ohtaka-Maruyama, Naomichi Matsumoto
Science advances
7
(
13
)
2021年3月
-
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy
Toshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, Matias Wagner, Urania Kotzaeridou, Ines Brösse, Markus Ries, Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Winnie P. Ong, Hui B. 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
Human Mutation
42
(
1
)
66
-
76
2021年1月
-
Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses
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 S. Honjo, Debora Romeo Bertola, Chong Ae Kim, Masahide Goto, Tetsuya Okazaki, Hiroyuki Yamada, Yoshihiro Maegaki, Hitoshi Osaka, Lock‐Hock Ngu, Ch'ng G. Siew, 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
Human Mutation
42
(
1
)
50
-
65
2021年1月
-
Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing.
国際誌
Takeshi Mizuguchi, Nobuhiko Okamoto, Keiko Yanagihara, Satoko Miyatake, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Noriko Miyake, Naomichi Matsumoto
Genomics
113
(
1 Pt 2
)
1044
-
1053
2021年1月
-
Whole exome sequencing of fetal structural anomalies detected by ultrasonography
Hiromi Aoi, Takeshi Mizuguchi, Toshifumi Suzuki, Shintaro Makino, Yuka Yamamoto, Jun Takeda, Yojiro Maruyama, Rie Seyama, Shiori Takeuchi, Yuri Uchiyama, Yoshiteru Azuma, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Satomi Mitsuhashi, Atsushi Takata, Noriko Miyake, Satoru Takeda, Atsuo Itakura, Naomichi Matsumoto
Journal of Human Genetics
2020年11月
-
Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with NEXMIF Mutation: Case Report.
国際誌
Masashi Ogasawara, Eiji Nakagawa, Eri Takeshita, Kohei Hamanaka, Satoko Miyatake, Naomichi Matsumoto, Masayuki Sasaki
Molecular syndromology
11
(
4
)
232
-
237
2020年11月
-
The identification of two pathogenic variants in a family with mild and severe forms of developmental delay
Noriko Miyake, Shermineh Heydari, Masoud Garshasbi, Shinji Saitoh, Jafar Nasiri, Kohei Hamanaka, Atsushi Takata, Naomichi Matsumoto, Farnaz Hosseini Beheshti, Ahmad Reza Salehi Chaleshtori
Journal of Human Genetics
2020年10月
-
MYRFは46,XXおよび46,XY DSDの原因遺伝子である
増永 陽平, 濱中 耕平, 高田 篤, 和田 友香, 福井 由宇子, 南 佐和子, 深見 真紀, 長谷川 奉延, 松本 直通, 緒方 勤
日本内分泌学会雑誌
96
(
1
)
263
-
263
2020年8月
-
Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy.
査読
国際誌
Kohei Hamanaka, Darina Šikrová, Satomi Mitsuhashi, Hiroki Masuda, Yukari Sekiguchi, Atsuhiko Sugiyama, Kazumoto Shibuya, Richard J L F Lemmers, Remko Goossens, Megumu Ogawa, Koji Nagao, Chikashi Obuse, Satoru Noguchi, Yukiko K Hayashi, Satoshi Kuwabara, Judit Balog, Ichizo Nishino, Silvère M van der Maarel
Neurology
94
(
23
)
e2441-e2447
2020年6月
-
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.
査読
国際誌
Masamune Sakamoto, Den Kouhei, Muzhirah Haniffa, Sebastián Silva, Mónica Troncoso, Paola Santander, Valeria Schonstedt, Ximena Stecher, Nobuhiko Okamoto, Kohei Hamanaka, Takeshi Mizuguchi, Satomi Mitsuhashi, Noriko Miyake, Naomichi Matsumoto
Journal of human genetics
65
(
9
)
751
-
757
2020年5月
-
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.
査読
国際誌
Kohei Hamanaka, Eri Imagawa, Eriko Koshimizu, Satoko Miyatake, Jun Tohyama, Takanori Yamagata, Akihiko Miyauchi, Nina Ekhilevitch, Fumio Nakamura, Takeshi Kawashima, Yoshio Goshima, Ahmad Rithauddin Mohamed, Gaik-Siew Ch'ng, Atsushi Fujita, Yoshiteru Azuma, Ken Yasuda, Shintaro Imamura, Mitsuko Nakashima, Hirotomo Saitsu, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Naomichi Matsumoto
American journal of human genetics
2020年3月
-
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.
査読
Miyake N, Takahashi H, Nakamura K, Isidor B, Hiraki Y, Koshimizu E, Shiina M, Sasaki K, Suzuki H, Abe R, Kimura Y, Akiyama T, Tomiza S, Hirose T, Hamanaka K, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Oho K, Kato M, Ogata K, Matsumoto N
Am J Hum Genet.
106
(
1
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13
-
25
2020年1月
-
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
査読
国際誌
Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N
J Hum Genet.
64
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12
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1173
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1186
2019年12月
-
Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms.
査読
国際誌
Wakaba Endo, Satoru Ikemoto, Noriko Togashi, Takuya Miyabayashi, Erika Nakajima, Shin-Ichiro Hamano, Moriei Shibuya, Ryo Sato, Yusuke Takezawa, Yukimune Okubo, Takehiko Inui, Mitsuhiro Kato, Toru Sengoku, Kazuhiro Ogata, Kohei Hamanaka, Takeshi Mizuguchi, Satoko Miyatake, Mitsuko Nakashima, Naomichi Matsumoto, Kazuhiro Haginoya
Brain & development
2019年11月
-
Comparison of mitochondrial DNA variants detection using short- and long-read sequencing.
査読
Alkanaq AN, Hamanaka K, Sekiguchi F, Taguri M, Takata A, Miyake N, Miyatake S, Mizuguchi T, Matsumoto N
J Hum Genet.
64
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11
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1107
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1116
2019年11月
-
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
査読
国際誌
Aoi H, Mizuguchi T, Ceroni JR, Kim VEH, Furquim I, Honjo RS, Iwaki T, Suzuki T, Sekiguchi F, Uchiyama Y, Azuma Y, Hamanaka K, Koshimizu E, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Takeda S, Itakura A, Bertola DR, Kim CA, Matsumoto N
J Hum Genet.
64
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10
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967
-
978
2019年10月
-
L-dopa反応性のジストニアを呈し、遺伝子解析によりセピアプテリン還元酵素(SR)欠損症と診断した1例(第136回静岡地方会発表症例の続報)
査読
久世 崇史, 中釜 悠, 濱中 耕平, 新宅 治夫, 宮武 聡子, 松本 直通, 安藤 太郎, 高見澤 幸一, 入倉 朋也, 増井 礼子, 柏井 洋文, 清水 信隆, 三牧 正和
日本小児科学会雑誌
123
(
9
)
1450
-
1450
2019年9月
-
A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy.
査読
Oguni H, Nishikawa A, Sato Y, Otani Y, Ito S, Nagata S, Kato M, Hamanaka K, Miyatake S, Matsumoto N
Epilepsy research
155
106149
2019年9月
-
Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant.
査読
国際誌
Uchiyama Y, Kim CA, Pastorino AC, Ceroni J, Lima PP, de Barros Dorna M, Honjo RS, Bertola D, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Mizuguchi T, Matsumoto N
J Hum Genet.
94
(
9
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955
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960
2019年9月
-
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
査読
国際誌
Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G
Nature genetics
51
(
8
)
1215
-
1221
2019年8月
-
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy
査読
Kohei Hamanaka, Satoko Miyatake, Eriko Koshimizu, Yoshinori Tsurusaki, Satomi Mitsuhashi, Kazuhiro Iwama, Ahmed N. Alkanaq, Atsushi Fujita, Eri Imagawa, Yuri Uchiyama, Nozomu Tawara, Yukio Ando, Yohei Misumi, Mariko Okubo, Mitsuko Nakashima, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hirotomo Saitsu, Aritoshi Iida, Ichizo Nishino, Naomichi Matsumoto
Genetics in Medicine
21
(
7
)
1629
-
1638
2019年7月
-
Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing.
査読
Hirasawa-Inoue A, Ishiyama A, Takeshita E, Shimizu-Motohashi Y, Saito T, Komaki H, Nakagawa E, Yuasa S, Saitsu H, Hamanaka K, Miyatake S, Matsumoto N, Sasaki M
Brain & development
41
(
10
)
905
-
909
2019年7月
-
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
査読
国際誌
Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N
Human molecular genetics
28
(
14
)
2319
-
2329
2019年7月
-
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
国際誌
Takata Atsushi, Nakashima Mitsuko, Saitsu Hirotomo, Mizuguchi Takeshi, Mitsuhashi Satomi, Takahashi Yukitoshi, Okamoto Nobuhiko, Osaka Hitoshi, Nakamura Kazuyuki, Tohyama Jun, Haginoya Kazuhiro, Takeshita Saoko, Kuki Ichiro, Okanishi Tohru, Goto Tomohide, Sasaki Masayuki, Sakai Yasunari, Miyake Noriko, Miyatake Satoko, Tsuchida Naomi, Iwama Kazuhiro, Minase Gaku, Sekiguchi Futoshi, Fujita Atsushi, Imagawa Eri, Koshimizu Eriko, Uchiyama Yuri, Hamanaka Kohei, Ohba Chihiro, Itai Toshiyuki, Aoi Hiromi, Saida Ken, Sakaguchi Tomohiro, Den Kouhei, Takahashi Rina, Ikeda Hiroko, Yamaguchi Tokito, Tsukamoto Kazuki, Yoshitomi Shinsaku, Oboshi Taikan, Imai Katsumi, Kimizu Tomokazu, Kobayashi Yu, Kubota Masaya, Kashii Hirofumi, Baba Shimpei, Iai Mizue, Kira Ryutaro, Hara Munetsugu, Ohta Masayasu, Miyata Yohane, Miyata Rie, Takanashi Jun-ichi, Matsui Jun, Yokochi Kenji, Shimono Masayuki, Amamoto Masano, Takayama Rumiko, Hirabayashi Shinichi, Aiba Kaori, Matsumoto Hiroshi, Nabatame Shin, Shiihara Takashi, Kato Mitsuhiro, Matsumoto Naomichi
NATURE COMMUNICATIONS
10
(
1
)
2506
-
2506
2019年6月
-
L-dopa反応性の眼球運動異常発作を呈し、SPR変異の同定により、セピアプテリン還元酵素欠損症と診断された1例
査読
中釜 悠, 濱中 耕平, 新宅 治夫, 宮武 聡子, 松本 直通, 久世 崇史, 清水 信隆, 廣畑 晃司, 三牧 正和
脳と発達
51
(
Suppl.
)
S259
-
S259
2019年5月
-
Leaky splicing variant in sepiapterin reductase deficiency Are milder cases escaping diagnosis?
査読
Yu Nakagama, Kohei Hamanaka, Masakazu Mimaki, Haruo Shintaku, Satoko Miyatake, Naomichi Matsumoto, Koji Hirohata, Ryo Inuzuka, Akira Oka
NEUROLOGY-GENETICS
5
(
2
)
e319
2019年4月
-
SOFT syndrome in a patient from Chile.
査読
Saida K, Silva S, Solar B, Fujita A, Hamanaka K, Mitsuhashi S, Koshimizu E, Mizuguchi T, Miyatake S, Takata A, Miyake N, Matsumoto N
Am J Med Genet A.
179
(
3
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338
-
340
2019年3月
-
眼球運動失行様所見を伴い小脳性運動失調と鑑別を要したNKX2-1関連疾患の5歳男児例
査読
小野 博也, 石山 昭彦, 竹下 絵里, 本橋 裕子, 齋藤 貴志, 小牧 宏文, 中川 栄二, 濱中 耕平, 宮武 聡子, 松本 直通, 佐々木 征行
脳と発達
51
(
2
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125
-
125
2019年3月
-
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.
査読
国際誌
Kohei Hamanaka, Satoko Miyatake, Ayelet Zerem, Dorit Lev, Luba Blumkin, Kenji Yokochi, Atsushi Fujita, Eri Imagawa, Kazuhiro Iwama, Mitsuko Nakashima, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hirotomo Saitsu, Marjo S van der Knaap, Tally Lerman-Sagie, Naomichi Matsumoto
Journal of human genetics
63
(
12
)
1223
-
1229
2018年12月
-
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.
査読
国際誌
Uchiyama Y, Yanagisawa K, Kunishima S, Shiina M, Ogawa Y, Nakashima M, Hirato J, Imagawa E, Fujita A, Hamanaka K, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N, Mizuguchi T
Clinical genetics
94
(
6
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548
-
553
2018年12月
-
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.
査読
国際誌
Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, Saitsu H, Suzuki T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K, Alkanaq A, Fujita A, Imagawa E, Mizuguchi T, Miyake N, Miyatake S, Matsumoto N
European journal of human genetics : EJHG
27
(
3
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378
-
383
2018年11月
-
当院で経験したGNAO1遺伝子変異の3症例 幅広いスペクトラムを有するG蛋白の異常
西田 裕哉, 熊田 聡子, 白井 育子, 濱中 耕平, 宮武 聡子, 栗原 まな, 島田 姿野, 眞下 秀明, 宮田 世羽, 栗原 栄二, 松本 直通
脳と発達
50
(
5
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371
-
372
2018年9月
-
Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales.
査読
国際誌
K Hamanaka, K Takahashi, S Miyatake, S Mitsuhashi, H Hamanoue, Y Miyaji, R Fukai, H Doi, A Fujita, E Imagawa, K Iwama, M Nakashima, T Mizuguchi, A Takata, N Miyake, H Takeuchi, F Tanaka, N Matsumoto
Clinical genetics
94
(
2
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274
-
275
2018年8月
-
A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.
査読
国際誌
Hiroyuki Fukuda, Eri Imagawa, Kohei Hamanaka, Atsushi Fujita, Satomi Mitsuhashi, Satoko Miyatake, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Uri Kramer, Naomichi Matsumoto, Aviva Fattal-Valevski
Journal of human genetics
63
(
5
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673
-
676
2018年5月
-
KMT2B遺伝子変異2例に対する淡蒼球内節刺激療法 定量的運動機能解析システムを用いた検討
査読
宮田 世羽, 吉田 大峰, 本多 武尊, 熊田 聡子, 眞下 秀明, 西田 裕哉, 白井 育子, 横地 房子, 筧 慎治, 濱中 耕平, 宮武 聡子, 松本 直通, 服部 文子, 瓦井 俊孝, 谷口 真
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50
(
Suppl.
)
S304
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S304
2018年5月
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A 62-Year-Old Woman with A History of Muscle Pain and Skin Rash for 1 Month.
査読
国際誌
Jantima Tanboon, Akinori Uruha, Kohei Hamanaka, Juri Hasegawa, Ichizo Nishino
Brain pathology (Zurich, Switzerland)
28
(
1
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121
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122
2018年1月
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Aberrant Myokine Signaling in Congenital Myotonic Dystrophy
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Masayuki Nakamori, Kohei Hamanaka, James D. Thomas, Eric T. Wang, Yukiko K. Hayashi, Masanori P. Takahashi, Maurice S. Swanson, Ichizo Nishino, Hideki Mochizuki
CELL REPORTS
21
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5
)
1240
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1252
2017年10月
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Skeletal Muscle Involvement in Antisynthetase Syndrome
査読
Eri Noguchi, Akinori Uruha, Shigeaki Suzuki, Kohei Hamanaka, Yuko Ohnuki, Jun Tsugawa, Yurika Watanabe, Jin Nakahara, Takashi Shiina, Norihiro Suzuki, Ichizo Nishino
JAMA NEUROLOGY
74
(
8
)
992
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999
2017年8月
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【最新遺伝医学研究と遺伝カウンセリング シリーズ2 最新精神・神経遺伝医学研究と遺伝カウンセリング】(第2章)精神・神経疾患の遺伝医学研究・診療各論 筋疾患の遺伝医学研究
査読
濱中 耕平, 西野 一三
遺伝子医学MOOK
別冊
(
最新精神・神経遺伝医学研究と遺伝カウンセリング
)
164
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167
2017年4月
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Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies
査読
Wen-Chen Liang, Akinori Uruha, Shigeaki Suzuki, Nobuyuki Murakami, Eri Takeshita, Wan-Zi Chen, Yuh-Jyh Jong, Yukari Endo, Hirofumi Komaki, Tatsuya Fujii, Yutaka Kawano, Madoka Mori-Yoshimura, Yasushi Oya, Jianying Xi, Wenhua Zhu, Chongbo Zhao, Yurika Watanabe, Keisuke Ikemoto, Atsuko Nishikawa, Kohei Hamanaka, Satomi Mitsuhashi, Norihiro Suzuki, Ichizo Nishino
RHEUMATOLOGY
56
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2
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287
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293
2017年2月
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Sarcoplasmic MxA expression A valuable marker of dermatomyositis
査読
Akinori Uruha, Atsuko Nishikawa, Rie S. Tsuburaya, Kohei Hamanaka, Masataka Kuwana, Yurika Watanabe, Shigeaki Suzuki, Norihiro Suzuki, Ichizo Nishino
NEUROLOGY
88
(
5
)
493
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500
2017年1月
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顔面肩甲上腕型筋ジストロフィー2型(FSHD2)と遺伝子診断した1例
査読
徳岡 秀紀, 上田 健博, 遠藤 浩信, 立花 久嗣, 千原 典夫, 関口 兼司, 古和 久朋, 苅田 典生, 濱中 耕平, 西野 一三, 戸田 達史
臨床神経学
56
(
11
)
795
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795
2016年11月
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HLA-DRB1 ALLELES IN IMMUNE-MEDIATED NECROTIZING MYOPATHY
査読
Yuko Ohnuki, Shigeaki Suzuki, Takashi Shiina, Akinori Uruha, Yurika Watanabe, Shingo Suzuki, Shunichiro Izumi, Jin Nakahara, Kohei Hamanaka, Kazuko Takayama, Norihiro Suzuki, Ichizo Nishino
NEUROLOGY
87
(
18
)
1954
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1955
2016年11月
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壊死性ミオパチーにおける免疫治療と神経学的予後 抗SRP抗体と抗HMGCR抗体の比較
査読
渡邊 由里香, 鈴木 重明, 漆葉 章典, 濱中 耕平, 中原 仁, 高山 和子, 鈴木 則宏, 西野 一三
神経治療学
33
(
5
)
S225
-
S225
2016年10月
-
Clinical features and prognosis in anti-SRP and anti-HMGCR necrotising myopathy
査読
Yurika Watanabe, Akinori Uruha, Shigeaki Suzuki, Jin Nakahara, Kohei Hamanaka, Kazuko Takayama, Norihiro Suzuki, Ichizo Nishino
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
87
(
10
)
1038
-
1044
2016年10月
-
"Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations" (vol 26, pg 300, 2016)
査読
Kohei Hamanaka, Kanako Goto, Mami Arai, Koji Nagao, Chikashi Obuse, Satoru Noguchi, Yukiko K. Hayashi, Satomi Mitsuhashi, Ichizo Nishino
NEUROMUSCULAR DISORDERS
26
(
7
)
472
-
472
2016年7月
-
Corrigendum to "Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations": [Neuromuscular Disorders 26/4-5 (2016) 300-308].
査読
国際誌
Kohei Hamanaka, Kanako Goto, Mami Arai, Koji Nagao, Chikashi Obuse, Satoru Noguchi, Yukiko K Hayashi, Satomi Mitsuhashi, Ichizo Nishino
Neuromuscular disorders : NMD
26
(
7
)
472
-
472
2016年7月
-
Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations
査読
Kohei Hamanaka, Kanako Goto, Mami Arai, Koji Nagao, Chikashi Obuse, Satoru Noguchi, Yukiko K. Hayashi, Satomi Mitsuhashi, Ichizo Nishino
NEUROMUSCULAR DISORDERS
26
(
4-5
)
300
-
308
2016年4月
-
Muscle from a 20-week-old myotubular myopathy fetus is not myotubular
査読
Kohei Hamanaka, Ikuhiro Inami, Takahito Wada, Satomi Mitsuhashi, Satoru Noguchi, Yukiko K. Hayashi, Ichizo Nishino
NEUROMUSCULAR DISORDERS
26
(
3
)
234
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235
2016年3月
-
顔面肩甲上腕型筋ジストロフィーの遺伝学的解析2015
査読
後藤 加奈子, 三橋 里美, 濱中 耕平, 西野 一三
臨床神経学
55
(
Suppl.
)
S388
-
S388
2015年12月
-
顔面肩甲上腕型筋ジストロフィー患者のエピゲノム解析
査読
三橋 里美, 濱中 耕平, 後藤 加奈子, 西野 一三
日本生化学会大会・日本分子生物学会年会合同大会講演要旨集
88回・38回
[2P1298]
-
[2P1298]
2015年12月
-
先天性筋強直性ジストロフィー症の筋未熟性とCpGメチル化異常
査読
中森 雅之, 濱中 耕平, 林 由起子, 西野 一三, 高橋 正紀, 望月 秀樹
臨床神経学
55
(
Suppl.
)
S387
-
S387
2015年12月
-
【骨格筋症候群(第2版)-その他の神経筋疾患を含めて-下】ミトコンドリア病 ミトコンドリア病の臨床的表現型による分類 Myopathy,lactic acidosis,and sideroblastic anemia(MLASA)
査読
濱中 耕平, 西野 一三
日本臨床
別冊
(
骨格筋症候群(下)
)
243
-
245
2015年7月
-
Useful differential diagnostic markers between congenital myotonic dystrophy and X-linked myotubular myopathy
査読
Hamanaka K, Noguchi S, Hayashi Y. K, Nishino I
NEUROMUSCULAR DISORDERS
23
(
9-10
)
761
2013年10月