Naomichi Matsumoto

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 125

Top Venues

Journal of human genetics

Clinical genetics

Scientific reports

Journal of medical genetics

Yokohama City University Graduate School of Medicine

Nagasaki University Graduate School of Biomedical Sciences (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Yokohama City University Graduate School of Medicine Oct 01 2003

Japan

Professor and Chair :: Department of Human Genetics

Education History

Nagasaki University Graduate School of Biomedical Sciences Apr 01 1993 - Mar 31 1997

Japan

PHD :: Human Genetics

Publications

Yukiko Takeda, Masahiro Ueki, Junpei Matsuhiro, Erik Walinda, Takayuki Tanaka, Masafumi Yamada, Hiroaki Fujita, Shunichiro Takezaki, Ichiro Kobayashi, Sakura Tamaki, Sanae Nagata, Noriko Miyake, Naomichi Matsumoto, Mitsujiro Osawa, Takahiro Yasumi, Toshio Heike, Fumiaki Ohtake, Megumu K Saito, Junya Toguchida, Junko Takita, Tadashi Ariga, Kazuhiro Iwai
A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome. The Journal of experimental medicine 221 (6) (2024)
Eriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling. Journal of human genetics (2024)
Ken Higashimoto, Feifei Sun, Eri Imagawa, Ken Saida, Noriko Miyake, Satoshi Hara, Hitomi Yatsuki, Musashi Kubiura-Ichimaru, Atsushi Fujita, Takeshi Mizuguchi, Naomichi Matsumoto, Hidenobu Soejima
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum. Journal of medical genetics 61 (6) (2024)
Yukiko Takeda, Masahiro Ueki, Junpei Matsuhiro, Erik Walinda, Takayuki Tanaka, Masafumi Yamada, Hiroaki Fujita, Shunichiro Takezaki, Ichiro Kobayashi, Sakura Tamaki, Sanae Nagata, Noriko Miyake, Naomichi Matsumoto, Mitsujiro Osawa, Takahiro Yasumi, Toshio Heike, Fumiaki Ohtake, Megumu K Saito, Junya Toguchida, Junko Takita, Tadashi Ariga, Kazuhiro Iwai
A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome. The Journal of experimental medicine 221 (6) (2024)
Yohei Misumi, Taro Yamashita, Aki Kuratomi, Yoshitaka Murakami, Atsushi Fujita, Naomichi Matsumoto, Mitsuharu Ueda
Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant. Journal of human genetics (2024)
Eriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling. Journal of human genetics 69 (3-4) (2024)
Aritomo Kawashima, Kaori Kodama, Yukimune Okubo, Wakaba Endo, Takehiko Inui, Miki Ikeda, Yu Katata, Noriko Togashi, Chihiro Ohba, Eri Imagawa, Kazuhiro Iwama, Takeshi Mizuguchi, Masahiro Kitami, Yu Aihara, Jun Takayama, Gen Tamiya, Atsuo Kikuchi, Shigeo Kure, Hirotomo Saitsu, Naomichi Matsumoto, Kazuhiro Haginoya
Long-term clinical observation of patients with heterozygous KIF1A variants. American journal of medical genetics. Part A (2024)
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
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability. Journal of human genetics (2024)
Yohei Misumi, Taro Yamashita, Aki Kuratomi, Yoshitaka Murakami, Atsushi Fujita, Naomichi Matsumoto, Mitsuharu Ueda
Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant. Journal of human genetics 69 (7) (2024)
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
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability. Journal of human genetics 69 (3-4) (2024)
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
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability. Journal of human genetics 69 (3-4) (2024)
Yuji Nakamura, Issei S Shimada, Reza Maroofian, Micol Falabella, Maha S Zaki, Masanori Fujimoto, Emi Sato, Hiroshi Takase, Shiho Aoki, Akihiko Miyauchi, Eriko Koshimizu, Satoko Miyatake, Yuko Arioka, Mizuki Honda, Takayoshi Higashi, Fuyuki Miya, Yukimune Okubo, Isamu Ogawa, Annarita Scardamaglia, Mohammad Miryounesi, Sahar Alijanpour, Farzad Ahmadabadi, Peter Herkenrath, Hormos Salimi Dafsari, Clara Velmans, Mohammed Al Balwi, Antonio Vitobello, Anne Sophie Denommé-Pichon, Médéric Jeanne, Antoine Civit, Mohamed S Abdel-Hamid, Hamed Naderi, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Christopher J Carroll, Ehsan Ghayoor Karimiani, Rozhgar A Khailany, Talib Adil Abdulqadir, Mehmet Ozaslan, Peter Bauer, Giovanni Zifarelli, Tahere Seifi, Mina Zamani, Chadi Al Alam, Javeria Raza Alvi, Tipu Sultan, Stephanie Efthymiou, Simon A S Pope, Kazuhiro Haginoya, Tamihide Matsunaga, Hitoshi Osaka, Naomichi Matsumoto, Norio Ozaki, Yasuyuki Ohkawa, Shinya Oki, Tatushiko Tsunoda, Robert D S Pitceathly, Yoshitaka Taketomi, Henry Houlden, Makoto Murakami, Yoichi Kato, Shinji Saitoh
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia. Brain : a journal of neurology (2024)
Ken Higashimoto, Feifei Sun, Eri Imagawa, Ken Saida, Noriko Miyake, Satoshi Hara, Hitomi Yatsuki, Musashi Kubiura-Ichimaru, Atsushi Fujita, Takeshi Mizuguchi, Naomichi Matsumoto, Hidenobu Soejima
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum. Journal of medical genetics (2024)
Yukiko Takeda, Masahiro Ueki, Junpei Matsuhiro, Erik Walinda, Takayuki Tanaka, Masafumi Yamada, Hiroaki Fujita, Shunichiro Takezaki, Ichiro Kobayashi, Sakura Tamaki, Sanae Nagata, Noriko Miyake, Naomichi Matsumoto, Mitsujiro Osawa, Takahiro Yasumi, Toshio Heike, Fumiaki Ohtake, Megumu K Saito, Junya Toguchida, Junko Takita, Tadashi Ariga, Kazuhiro Iwai
A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome. The Journal of experimental medicine 221 (6) (2024)
Eriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling. Journal of human genetics 69 (3-4) (2024)
Zheng Wang, Mitsuhiro Kometani, Leonid Zeitlin, Yael Wilnai, Akira Kinoshita, Koh-Ichiro Yoshiura, Hiroko Ninomiya, Takeshi Imamura, Long Guo, Jingyi Xue, Li Yan, Hirofumi Ohashi, Yann Pretemer, Shunsuke Kawai, Masaaki Shiina, Kazuhiro Ogata, Daniel H Cohn, Naomichi Matsumoto, Gen Nishimura, Junya Toguchida, Noriko Miyake, Shiro Ikegawa
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II. Journal of human genetics (2024)
Yukiko Takeda, Masahiro Ueki, Junpei Matsuhiro, Erik Walinda, Takayuki Tanaka, Masafumi Yamada, Hiroaki Fujita, Shunichiro Takezaki, Ichiro Kobayashi, Sakura Tamaki, Sanae Nagata, Noriko Miyake, Naomichi Matsumoto, Mitsujiro Osawa, Takahiro Yasumi, Toshio Heike, Fumiaki Ohtake, Megumu K Saito, Junya Toguchida, Junko Takita, Tadashi Ariga, Kazuhiro Iwai
A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome. The Journal of experimental medicine 221 (6) (2024)
Tomoko Kobayashi, Fumiyoshi Fujishima, Kazuaki Tokodai, Chiaki Sato, Takashi Kamei, Noriko Miyake, Naomichi Matsumoto, Tomoki Kosho
Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS- CHST14 ). Genes 14 (5) (2023)
Yuki Kanazashi, Kazuhiro Maejima, Todd A Johnson, Shota Sasagawa, Ryosuke Jikuya, Hisashi Hasumi, Naomichi Matsumoto, Shigekatsu Maekawa, Wataru Obara, Hidewaki Nakagawa
Mitochondrial DNA Variants at Low-Level Heteroplasmy and Decreased Copy Numbers in Chronic Kidney Disease (CKD) Tissues with Kidney Cancer. International journal of molecular sciences 24 (24) (2023)
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
An integrated genetic analysis of epileptogenic brain malformed lesions. Acta neuropathologica communications 11 (1) (2023)
Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics 103 (4) (2023)
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
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders. Journal of human genetics (2023)
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
Correction: A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8. Journal of human genetics (2023)
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
Correction: A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8. Journal of human genetics (2023)
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
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism. Journal of human genetics (2023)
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
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias. Journal of human genetics (2023)
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
Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy. Life science alliance 6 (8) (2023)
Kaoru Yamamoto, Shimpei Baba, Takashi Saito, Eiji Nakagawa, Kenji Sugai, Masaki Iwasaki, Atsushi Fujita, Hiromi Fukuda, Takeshi Mizuguchi, Mitsuhiro Kato, Naomichi Matsumoto, Masayuki Sasaki
Synchronous Heart Rate Reduction with Suppression-Burst Pattern in KCNT1-Related Developmental and Epileptic Encephalopathies. Epilepsia open (2023)
Yi-Chu Liao, Cheng-Yu Wei, Fu-Pang Chang, Ying-Tsen Chou, Shao-Lun Hsu, Chih-Ping Chung, Takeshi Mizuguchi, Naomichi Matsumoto, Shaw-Fang Yet, Yi-Chung Lee
NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy. Stroke (2023)
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
Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics (2023)
Eriko Nishi, Noriko Miyake, Rie Kawamura, Kana Hosoki, Yuiko Hasegawa, Naomichi Matsumoto, Nobuhiko Okamoto
Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications. American journal of medical genetics. Part A (2023)
Naomi Tsuchida, Yuri Uchiyama, Ayaka Maeda, Nobuyuki Horita, Yohei Kirino, Naomichi Matsumoto
Comment on: Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome: reply. Rheumatology (Oxford, England) (2023)
Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Itaru Kushima, Nobuhiko Okamoto, Kei Ohashi, Kazuhiko Nakamura, Ryota Hashimoto, Yoko Hiraki, Shuraku Son, Mitsuhiro Kato, Yasunari Sakai, Hitoshi Osaka, Kimiko Deguchi, Toyojiro Matsuishi, Saoko Takeshita, Aviva Fattal-Valevski, Nina Ekhilevitch, Jun Tohyama, Patrick Yap, Wee Teik Keng, Hiroshi Kobayashi, Keiyo Takubo, Takashi Okada, Shinji Saitoh, Yuka Yasuda, Toshiya Murai, Kazuyuki Nakamura, Shouichi Ohga, Ayumi Matsumoto, Ken Inoue, Tomoko Saikusa, Tova Hershkovitz, Yu Kobayashi, Mako Morikawa, Aiko Ito, Toshiro Hara, Yota Uno, Chizuru Seiwa, Kanako Ishizuka, Emi Shirahata, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Atsushi Takata, Takeshi Mizuguchi, Norio Ozaki, Naomichi Matsumoto
Molecular diagnosis of 405 individuals with autism spectrum disorder. European journal of human genetics : EJHG (2023)
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
Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Maria Cristina Cioclu, Ilaria Mosca, Paolo Ambrosino, Deborah Puzo, Allan Bayat, Saskia B Wortmann, Johannes Koch, Vincent Strehlow, Kentaro Shirai, Naomichi Matsumoto, Stephan J Sanders, Vincent Michaud, Marine Legendre, Antonella Riva, Pasquale Striano, Hiltrud Muhle, Manuela Pendziwiat, Gaëtan Lesca, Giuseppe Donato Mangano, Rosaria Nardello, null null, Johannes R Lemke, Rikke Steensjerre Moller, Maria Virginia Soldovieri, Guido Rubboli, Taglialatela Maurizio
KCNT2-related disorders: phenotypes, functional and pharmacological properties. Annals of neurology (2023)
Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics 103 (4) (2023)
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
A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
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
Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
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
An integrated genetic analysis of epileptogenic brain malformed lesions. Acta neuropathologica communications 11 (1) (2023)
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
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation. Journal of human genetics (2023)
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
A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
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-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans. Genome research 33 (3) (2023)
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
A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Kohei Matsubara, Ichiro Kuki, Risako Ishioka, Naoki Yamada, Masataka Fukuoka, Takeshi Inoue, Megumi Nukui, Nobuhiko Okamoto, Takeshi Mizuguchi, Naomichi Matsumoto, Shin Okazaki
Abnormal axonal development and severe epileptic phenotype in Dynamin-1 (DNM1) encephalopathy. Epileptic disorders : international epilepsy journal with videotape (2023)
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
An integrated genetic analysis of epileptogenic brain malformed lesions. Acta neuropathologica communications 11 (1) (2023)
Atsushi Hijikata, Mikita Suyama, Shingo Kikugawa, Ryo Matoba, Takuya Naruto, Yumi Enomoto, Kenji Kurosawa, Naoki Harada, Kumiko Yanagi, Tadashi Kaname, Keisuke Miyako, Masaki Takazawa, Hideo Sasai, Junichi Hosokawa, Sakae Itoga, Tomomi Yamaguchi, Tomoki Kosho, Keiko Matsubara, Yoko Kuroki, Maki Fukami, Kaori Adachi, Eiji Nanba, Naomi Tsuchida, Yuri Uchiyama, Naomichi Matsumoto, Kunihiro Nishimura, Osamu Ohara
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation dna sequencing. Nucleic acids research (2023)
Yusuke Noda, Jun Kido, Yohei Misumi, Keishin Sugawara, Sachiko Ohori, Atsushi Fujita, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura
Heterozygous c.175C>T variant in PURA gene causes severe developmental delay. Clinical case reports 11 (9) (2023)
Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics (2023)
Yuki Kanazashi, Kazuhiro Maejima, Todd A Johnson, Shota Sasagawa, Ryosuke Jikuya, Hisashi Hasumi, Naomichi Matsumoto, Shigekatsu Maekawa, Wataru Obara, Hidewaki Nakagawa
Mitochondrial DNA Variants at Low-Level Heteroplasmy and Decreased Copy Numbers in Chronic Kidney Disease (CKD) Tissues with Kidney Cancer. International journal of molecular sciences 24 (24) (2023)
Kaoru Yamamoto, Shimpei Baba, Takashi Saito, Eiji Nakagawa, Kenji Sugai, Masaki Iwasaki, Atsushi Fujita, Hiromi Fukuda, Takeshi Mizuguchi, Mitsuhiro Kato, Naomichi Matsumoto, Masayuki Sasaki
Synchronous heart rate reduction with suppression-burst pattern in KCNT1-related developmental and epileptic encephalopathies. Epilepsia open (2023)
Masamune Sakamoto, Kenji Kurosawa, Koji Tanoue, Kazuhiro Iwama, Fumihiko Ishida, Yoshihiro Watanabe, Nobuhiko Okamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumoto
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities. Journal of human genetics (2023)
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
A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Taishi Wada, Hiroshi Doi, Masaki Okubo, Mikiko Tada, Naohisa Ueda, Hidefumi Suzuki, Wakana Tominaga, Haruki Koike, Hiroyasu Komiya, Shun Kubota, Shunta Hashiguchi, Haruko Nakamura, Keita Takahashi, Misako Kunii, Kenichi Tanaka, Yosuke Miyaji, Yuichi Higashiyama, Eriko Koshimizu, Satoko Miyatake, Masahisa Katsuno, Satoshi Fujii, Hidehisa Takahashi, Naomichi Matsumoto, Hideyuki Takeuchi, Fumiaki Tanaka
RNA foci in two bi-allelic RFC1 expansion carriers. Annals of neurology (2023)
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
A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
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
A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics 103 (4) (2023)
Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics 103 (4) (2023)
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
An integrated genetic analysis of epileptogenic brain malformed lesions. Acta neuropathologica communications 11 (1) (2023)
Chika Shigeyasu, Masakazu Yamada, Yohane Miyata, Yuri Uchiyama, Naomichi Matsumoto, Yumi Kusumi, Atsushi Shiraishi
Ocular Manifestations of Peters Plus-Like Syndrome in 8q21.11 Microdeletion Syndrome. Cornea (2023)
Keiichi Mizushima, Yuka Shibata, Shinichi Shirai, Masaaki Matsushima, Satoko Miyatake, Ikuko Iwata, Hiroaki Yaguchi, Naomichi Matsumoto, Ichiro Yabe
Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan. Journal of human genetics (2023)
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
An integrated genetic analysis of epileptogenic brain malformed lesions. Acta neuropathologica communications 11 (1) (2023)
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
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8. Journal of human genetics (2022)
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
Monogenic causes of pigmentary mosaicism. Human genetics 141 (11) (2022)
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
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants. Genome medicine 14 (1) (2022)
Hiroki Kimura, Masahiro Nakatochi, Branko Aleksic, James Guevara, Miho Toyama, Yu Hayashi, Hidekazu Kato, Itaru Kushima, Mako Morikawa, Kanako Ishizuka, Takashi Okada, Yoshinori Tsurusaki, Atsushi Fujita, Noriko Miyake, Tomoo Ogi, Atsushi Takata, Naomichi Matsumoto, Joseph D Buxbaum, Norio Ozaki, Jonathan Sebat
Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes. Translational psychiatry 12 (1) (2022)
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
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing. NPJ genomic medicine 7 (1) (2022)
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
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants. Clinical genetics (2022)
Laura J Grange, John J Reynolds, Farid Ullah, Bertrand Isidor, Robert F Shearer, Xenia Latypova, Ryan M Baxley, Antony W Oliver, Anil Ganesh, Sophie L Cooke, Satpal S Jhujh, Gavin S McNee, Robert Hollingworth, Martin R Higgs, Toyoaki Natsume, Tahir N Khan, Gabriel Á Martos-Moreno, Sharon Chupp, Christopher G Mathew, David A Parry, Michael A Simpson, Nahid Nahavandi, Zafer Yüksel, Mojgan Drasdo, Anja Kron, Petra Vogt, Annemarie Jonasson, Saad Ahmed Seth, Claudia Gonzaga-Jauregui, Karlla W Brigatti, Alexander P A Stegmann, Masato T Kanemaki, Dragana Josifova, Yuri Uchiyama, Yukiko Oh, Akira Morimoto, Hitoshi Osaka, Zineb Ammous, Jesús Argente, Naomichi Matsumoto, Constance T R M Stumpel, Alexander Malcolm Taylor, Andrew P Jackson, Anja-Katrin Bielinsky, Niels Mailand, Cedric Le Caignec, Erica E Davis, Grant S Stewart
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy. Nature communications 13 (1) (2022)
Hiroki Yamaguchi, Daisuke Kobayashi, Gen Nakamura, Ryo Aida, Yosuke Horii, Takeshi Okamoto, Shuichi Murakami, Daisuke Kondo, Naomi Tsuchida, Yuri Uchiyama, Ayaka Maeda, Yohei Kirino, Naomichi Matsumoto, Yoichi Kurosawa, Eriko Hasegawa, Ayako Wakamatsu, Ichiei Narita
Acute heart failure due to left common iliac arteriovenous fistula: A case of VEXAS syndrome. Modern rheumatology case reports (2022)
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
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants. Clinical genetics (2022)
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
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome. Brain : a journal of neurology 145 (3) (2022)
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
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8. Journal of human genetics (2022)
Yuji Takahashi, Hidetoshi Date, Hideki Oi, Takeya Adachi, Noriaki Imanishi, En Kimura, Hotake Takizawa, Shinji Kosugi, Naomichi Matsumoto, Kenjiro Kosaki, Yoichi Matsubara, null null, Hidehiro Mizusawa
Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures. Journal of human genetics 67 (9) (2022)
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
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8. Journal of human genetics (2022)
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, null null, Takeshi Ikeuchi, null null, Takaki Miyata, Gen Sobue, Naomichi Matsumoto, Kentaro Sahashi, Masahisa Katsuno
Actin-binding protein filamin-A drives tau aggregation and contributes to progressive supranuclear palsy pathology. Science advances 8 (21) (2022)
Toshiyuki Itai, Zheng Wang, Gen Nishimura, Hirofumi Ohashi, Long Guo, Yasuhiro Wakano, Takahiro Sugiura, Hiromi Hayakawa, Mayumi Okada, Takashi Saisu, Ayana Kitta, Hiroshi Doi, Kenji Kurosawa, Yoshihiro Hotta, Katsuhiro Hosono, Miho Sato, Kenji Shimizu, Kazuharu Takikawa, Seiji Watanabe, Naho Ikeda, Mitsuyoshi Suzuki, Atsushi Fujita, Yuri Uchiyama, Naomi Tsuchida, Satoko Miyatake, Noriko Miyake, Naomichi Matsumoto, Shiro Ikegawa
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia. Clinical genetics 102 (1) (2022)
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
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant. Human genetics 141 (2) (2022)
Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Céline Huber, Carlos Antón-Plágaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J Cullen, Shinji Saitoh, Kohji Kato
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome. Journal of medical genetics (2022)
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
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8. Journal of human genetics (2022)
Masaki Itagane, Hiroyuki Teruya, Tomohiro Kato, Naomi Tsuchida, Ayaka Maeda, Yohei Kirino, Yuri Uchiyama, Naomichi Matsumoto, Mitsuyo Kinjo
Clinical images: VEXAS syndrome presenting as treatment-refractory polyarteritis nodosa. Arthritis & rheumatology (Hoboken, N.J.) 74 (11) (2022)
Renzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen, Megan T Cho, Kimberly McDonald, Janice Baker, Vikas Bhambhani, Zöe Powis, Lance Rodan, Rima Nabbout, Giulia Barcia, Jill Anne Rosenfeld, Carlos A Bacino, Cyril Mignot, Lillian H Power, Catharine J Harris, Dragan Marjanovic, Rikke S Møller, Trine B Hammer, null null, Riikka Keski Filppula, Päivi Vieira, Clara Hildebrandt, Stephanie Sacharow, null null, Luca Maragliano, Fabio Benfenati, Katherine Lachlan, Andreas Benneche, Florence Petit, Jean Madeleine de Sainte Agathe, Barbara Hallinan, Yue Si, Ingrid M Wentzensen, Fanggeng Zou, Vinodh Narayanan, Naomichi Matsumoto, Alessandra Boncristiano, Giancarlo la Marca, Mitsuhiro Kato, Kristin Anderson, Carmen Barba, Luisa Sturiale, Domenico Garozzo, Roberto Bei, null null, Laura Masuelli, Valerio Conti, Gaia Novarino, Anna Fassio
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. Brain : a journal of neurology 145 (8) (2022)
Yi Hong Liu, Ying Tsen Chou, Fu Pang Chang, Wei Ju Lee, Yuh Cherng Guo, Cheng Ta Chou, Hui Chun Huang, Takeshi Mizuguchi, Chien Chen Chou, Hsiang Yu Yu, Kai Wei Yu, Hsiu Mei Wu, Pei Chien Tsai, Naomichi Matsumoto, Yi Chung Lee, Yi-Chu Liao
Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy. Brain : a journal of neurology 145 (9) (2022)
Masataka Fukuoka, Shin Okazaki, Kiyohiro Kim, Megumi Nukui, Takeshi Inoue, Ichiro Kuki, Hisashi Kawawaki, Mitsuko Nakashima, Naomichi Matsumoto
Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant. Epilepsia open 6 (1) (2021)
Yi-Chu Liao, Fu-Pang Chang, Han-Wei Huang, Ting-Bing Chen, Ying-Tsen Chou, Shao-Lun Hsu, Kangyang Jih, Yi-Hong Liu, Cheng-Tsung Hsiao, Hiromi Fukukda, Takeshi Mizuguchi, Kon-Ping Kp Lin, Chou-Ching K Lin, Naomichi Matsumoto, Marina Kennerson, Yi-Chung Lee
GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies. Neurology (2021)
Naomi Tsuchida, Yosuke Kunishita, Yuri Uchiyama, Yohei Kirino, Makiko Enaka, Yukie Yamaguchi, Masataka Taguri, Shoji Yamanaka, Kaoru Takase-Minegishi, Ryusuke Yoshimi, Satoshi Fujii, Hideaki Nakajima, Naomichi Matsumoto
Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis. Annals of the rheumatic diseases (2021)
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
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features. Journal of human genetics (2021)
Long Guo, Aritoshi Iida, Gandham SriLakshmi Bhavani, Kalpana Gowrishankar, Zheng Wang, Jing-Yi Xue, Juan Wang, Noriko Miyake, Naomichi Matsumoto, Takanori Hasegawa, Yusuke Iizuka, Masashi Matsuda, Tomoki Nakashima, Masaki Takechi, Sachiko Iseki, Shinsei Yambe, Gen Nishimura, Haruhiko Koseki, Chisa Shukunami, Katta Mohan Girisha, Shiro Ikegawa
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling. Nature communications 12 (1) (2021)
Jing-Yi Xue, Pelin O Simsek-Kiper, Gulen Eda Utine, Li Yan, Zheng Wang, Ekim Z Taskiran, Beren Karaosmanoğlu, Gozde Imren, Rahsan Gocmen, Gen Nishimura, Naomichi Matsumoto, Noriko Miyake, Shiro Ikegawa, Long Guo
Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis. Journal of human genetics 66 (6) (2021)
Takeshi Mizuguchi, Tomoko Toyota, Satoko Miyatake, Satomi Mitsuhashi, Hiroshi Doi, Yosuke Kudo, Hitaru Kishida, Noriko Hayashi, Rie S Tsuburaya, Masako Kinoshita, Tetsuhiro Fukuyama, Hiromi Fukuda, Eriko Koshimizu, Naomi Tsuchida, Yuri Uchiyama, Atsushi Fujita, Atsushi Takata, Noriko Miyake, Mitsuhiro Kato, Fumiaki Tanaka, Hiroaki Adachi, Naomichi Matsumoto
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment. Brain : a journal of neurology 144 (4) (2021)
Ilaria Parenti, Daphne Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuhiro Kato, Kazuyuki Nakamura, Stella A de Man, Heidi Cope, Vandana Shashi, null null, Jennifer Friedman, Pascal Joset, Katharina Steindl, Anita Rauch, Irena Muffels, Peter M van Hasselt, Florence Petit, Thomas Smol, Gwenaël Le Guyader, Frederic Bilan, Arthur Sorlin, Antonio Vitobello, Christophe Philippe, Ingrid M B H van de Laar, Marjon A van Slegtenhorst, Philippe M Campeau, Ping Yee Billie Au, Mitsuko Nakashima, Hirotomo Saitsu, Tatsuya Yamamoto, Yumiko Nomura, Raymond J Louie, Michael J Lyons, Amy Dobson, Astrid S Plomp, M Mahdi Motazacker, Frank J Kaiser, Andrew T Timberlake, Sabine A Fuchs, Christel Depienne, Mignot Cyril
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Human genetics 140 (7) (2021)
Silvia Kalantari, Colleen M Carlston, Norah S Alsaleh, Ghada M H Abdel-Salam, Fowzan Sami Alkuraya, Mitsuhiro Kato, Naomichi Matsumoto, Satoko Miyatake, Tatsuya Yamamoto, Lucas Fares-Taie, Jean-Michel Rozet, Nicolas Chassaing, Catherine Vincent-Delorme, Anjeung Kang-Bellin, Kirsty McWalter, Caleb P Bupp, Emily Palen, Monisa D Wagner, Marcello Niceta, Claudia Cesario, Roberta Milone, Julie Kaplan, Erin Wadman, William B Dobyns, Isabel Filges
Expanding the KIF4A-associated phenotype. American journal of medical genetics. Part A 185 (12) (2021)
Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, Delfien Syx, Tohru Sonoda, Andreas R Janecke, Anne M Slavotinek, Nicol C Voermans, Yves Lacassie, Roberto Mendoza-Londono, Klaas J Wierenga, Parul Jayakar, William A Gahl, Cynthia J Tifft, Luis E Figuera, Yvonne Hilhorst-Hofstee, Alessandra Maugeri, Ken Ishikawa, Tomoko Kobayashi, Yoko Aoki, Toshihiro Ohura, Hiroshi Kawame, Michihiro Kono, Kosuke Mochida, Chiho Tokorodani, Kiyoshi Kikkawa, Takayuki Morisaki, Tetsuyuki Kobayashi, Takaya Nakane, Akiharu Kubo, Judith D Ranells, Ohsuke Migita, Glenda Sobey, Anupriya Kaur, Masumi Ishikawa, Tomomi Yamaguchi, Naomichi Matsumoto, Fransiska Malfait, Noriko Miyake, Tomoki Kosho
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Journal of medical genetics (2021)
Koki Nagai, Tetsuya Niihori, Nobuhiko Okamoto, Akane Kondo, Kenichi Suga, Tomoko Ohhira, Yasunobu Hayabuchi, Yukako Homma, Ryuji Nakagawa, Toshinobu Ifuku, Taiki Abe, Takeshi Mizuguchi, Naomichi Matsumoto, Yoko Aoki
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome. Human mutation (2021)
Natalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, Jonathan Gadian, Brian Hon-Yin Chung, Marcus Cy Chan, Jasmine Lf Fung, Edwin Cook, Stephen Guter, Felix Boschann, Andre Heinen, Jens Schallner, Cyril Mignot, Boris Keren, Sandra Whalen, Catherine Sarret, Dana Mittag, Laurie Demmer, Rachel Stapleton, Ken Saida, Naomichi Matsumoto, Noriko Miyake, Ruth Sheffer, Hagar Mor-Shaked, Christopher P Barnett, Alicia B Byrne, Hamish S Scott, Alison Kraus, Gerarda Cappuccio, Nicola Brunetti-Pierri, Raffaele Iorio, Fabiola Di Dato, Lynn S Pais, Alison Yeung, Tiong Yang Tan, Jenny C Taylor, John Christodoulou, Susan M White
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. Journal of medical genetics (2021)
Sachiko Ohori, Rie S Tsuburaya, Masako Kinoshita, Etsuko Miyagi, Takeshi Mizuguchi, Satomi Mitsuhashi, Martin C Frith, Naomichi Matsumoto
Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder. Journal of human genetics 66 (7) (2021)
Kana Yamamoto, Toshihiko Kuriu, Kensuke Matsumura, Kazuki Nagayasu, Yoshinori Tsurusaki, Noriko Miyake, Hidenaga Yamamori, Yuka Yasuda, Michiko Fujimoto, Mikiya Fujiwara, Masayuki Baba, Kohei Kitagawa, Tomoya Takemoto, Nanaka Gotoda-Nishimura, Tomohiro Takada, Kaoru Seiriki, Atsuko Hayata-Takano, Atsushi Kasai, Yukio Ago, Satoshi Kida, Kazuhiro Takuma, Fumihito Ono, Naomichi Matsumoto, Ryota Hashimoto, Hitoshi Hashimoto, Takanobu Nakazawa
Multiple alterations in glutamatergic transmission and dopamine D2 receptor splicing in induced pluripotent stem cell-derived neurons from patients with familial schizophrenia. Translational psychiatry 11 (1) (2021)
Toshiyuki Itai, Satoko Miyatake, Taku Hatano, Nobutaka Hattori, Atsuko Ohno, Yusuke Aoki, Kazuya Itomi, Harushi Mori, Hirotomo Saitsu, Naomichi Matsumoto
Cerebrovascular diseases in two patients with entire NSD1 deletion. Human genome variation 8 (1) (2021)
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
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice. Nature communications 12 (1) (2021)
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, Tatushiko 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
De novo ATP1A3 variants cause polymicrogyria. Science advances 7 (13) (2021)

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Naomichi Matsumoto