Hitoshi Osaka

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 33

Top Venues

Human genome variation

Pediatrics international : official journal of the Japan Pediatric Society

Journal of burn care & research : official publication of the American Burn Association

Antioxidants (Basel, Switzerland)

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

Publications

Ayaka Ohashi, Daisuke Matsubara, Yoshitaka Mizobe, Tadahiro Mitani, Marika Ono, Miki Nozawa, Makoto Ito, Toshihiro Tajima, Hitoshi Osaka
An Unusual Pediatric Case of an Insidious Thermal Airway Injury Without Initial Signs of Facial or Intraoral Scalding. Journal of burn care & research : official publication of the American Burn Association 45 (3) (2024)
Hiroshi Maeda, Kouichi Miura, Kenichi Aizawa, Oyunjargal Bat-Erdene, Miho Sashikawa-Kimura, Eri Noguchi, Masako Watanabe, Naoya Yamada, Hitoshi Osaka, Naoki Morimoto, Hironori Yamamoto
Apomorphine Suppresses the Progression of Steatohepatitis by Inhibiting Ferroptosis. Antioxidants (Basel, Switzerland) 13 (7) (2024)
Hiroshi Maeda, Kouichi Miura, Kenichi Aizawa, Oyunjargal Bat-Erdene, Miho Sashikawa-Kimura, Eri Noguchi, Masako Watanabe, Naoya Yamada, Hitoshi Osaka, Naoki Morimoto, Hironori Yamamoto
Apomorphine Suppresses the Progression of Steatohepatitis by Inhibiting Ferroptosis. Antioxidants (Basel, Switzerland) 13 (7) (2024)
Miyuki Matano, Hisayo Katabira, Tomoe Sekine, Koyuru Kurane, Kei Wakabayashi, Yumi Kono, Toshihiro Tajima, Kosuke Iwai, Hitoshi Osaka, Yukifumi Monden
First evaluation of Eyberg Child Behavior Inventory for foster children in Japan. Pediatrics international : official journal of the Japan Pediatric Society 66 (1) (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)
Yuri Shibata, Akimichi Shibata, Takeshi Mizuguchi, Naomichi Matsumoto, Hitoshi Osaka
A case of severe Aicardi-Goutières syndrome with a homozygous RNASEH2B intronic variant. Human genome variation 11 (1) (2024)
Ayaka Ohashi, Daisuke Matsubara, Yoshitaka Mizobe, Tadahiro Mitani, Marika Ono, Miki Nozawa, Makoto Ito, Toshihiro Tajima, Hitoshi Osaka
An Unusual Pediatric Case of an Insidious Thermal Airway Injury Without Initial Signs of Facial or Intraoral Scalding. Journal of burn care & research : official publication of the American Burn Association 45 (3) (2024)
Ayaka Ohashi, Daisuke Matsubara, Yoshitaka Mizobe, Tadahiro Mitani, Marika Ono, Miki Nozawa, Makoto Ito, Toshihiro Tajima, Hitoshi Osaka
An unusual pediatric case of an insidious thermal airway injury without initial signs of facial or intraoral scalding. Journal of burn care & research : official publication of the American Burn Association (2024)
Miyuki Matano, Koyuru Kurane, Kei Wakabayashi, Yukari Yada, Yumi Kono, Toshihiro Tajima, Hitoshi Osaka, Yukifumi Monden
Efficacy of parent-child interaction therapy for children born premature. Pediatrics international : official journal of the Japan Pediatric Society 66 (1) (2024)
Hiroshi Maeda, Kouichi Miura, Kenichi Aizawa, Oyunjargal Bat-Erdene, Miho Sashikawa-Kimura, Eri Noguchi, Masako Watanabe, Naoya Yamada, Hitoshi Osaka, Naoki Morimoto, Hironori Yamamoto
Apomorphine Suppresses the Progression of Steatohepatitis by Inhibiting Ferroptosis. Antioxidants (Basel, Switzerland) 13 (7) (2024)
Ayaka Ohashi, Daisuke Matsubara, Yoshitaka Mizobe, Tadahiro Mitani, Marika Ono, Miki Nozawa, Makoto Ito, Toshihiro Tajima, Hitoshi Osaka
An Unusual Pediatric Case of an Insidious Thermal Airway Injury Without Initial Signs of Facial or Intraoral Scalding. Journal of burn care & research : official publication of the American Burn Association 45 (3) (2024)
Yuri Shibata, Akimichi Shibata, Takeshi Mizuguchi, Naomichi Matsumoto, Hitoshi Osaka
A case of severe Aicardi-Goutières syndrome with a homozygous RNASEH2B intronic variant. Human genome variation 11 (1) (2024)
Yuri Shibata, Akimichi Shibata, Takeshi Mizuguchi, Naomichi Matsumoto, Hitoshi Osaka
A case of severe Aicardi-Goutières syndrome with a homozygous RNASEH2B intronic variant. Human genome variation 11 (1) (2024)
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)
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)
Hirokazu Yamagishi, Yukifumi Monden, Toshimi Michigami, Kanako Tachikawa, Hitoshi Osaka, Yasuyuki Nozaki, Toshihiro Tajima
A case of osteopathia striata with cranial sclerosis with facial nerve palsies. Pediatrics international : official journal of the Japan Pediatric Society 65 (1) (2023)
Hirokazu Yamagishi, Hitoshi Osaka, Yukifumi Monden, Yumi Kono
Prognostic factors, psychomotor development and life of trisomy 13 patients. Pediatrics international : official journal of the Japan Pediatric Society (2022)
Marina Hashiguchi, Yukifumi Monden, Yasuyuki Nozaki, Kazuki Watanabe, Mitsuko Nakashima, Hirotomo Saitsu, Takanori Yamagata, Hitoshi Osaka
A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia. Human genome variation 9 (1) (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)
Toshifumi Suzuki, Hitoshi Osaka, Noriko Miyake, Atsushi Fujita, Yuri Uchiyama, Rie Seyama, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Satoru Takeda, Naomichi Matsumoto
Distal 2q duplication in a patient with intellectual disability. Human genome variation 9 (1) (2022)
Mizuki Kobayashi, Yuichi Suzuki, Maki Nodera, Ayako Matsunaga, Masakazu Kohda, Yasushi Okazaki, Kei Murayama, Takanori Yamagata, Hitoshi Osaka
A Japanese patient with neonatal biotin-responsive basal ganglia disease. Human genome variation 9 (1) (2022)
Yuta Asakura, Hitoshi Osaka, Hiromi Aoi, Takeshi Mizuguchi, Naomichi Matsumoto, Takanori Yamagata
Intellectual disability and microcephaly associated with a novel CHAMP1 mutation. Human genome variation 8 (1) (2021)
Hirokazu Yamagishi, Hitoshi Osaka, Satoshi Toyokawa, Yasuki Kobayashi, Hideo Shimoizumi
Survey on children with cerebral palsy in Tochigi Prefecture, Japan. Pediatrics international : official journal of the Japan Pediatric Society 63 (8) (2021)
Kei Wakabayashi, Hitoshi Osaka, Karin Kojima, Taichi Imaizumi, Toshiyuki Yamamoto, Takanori Yamagata
MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene. Human genome variation 8 (1) (2021)
Takuya Hiraide, Mitsuko Nakashima, Takahiro Ikeda, Daisuke Tanaka, Hitoshi Osaka, Hirotomo Saitsu
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy. Journal of human genetics 65 (10) (2020)
Sachie Nakamura, Hitoshi Osaka, Shin-Ichi Muramatsu, Naomi Takino, Mika Ito, Eriko F Jimbo, Chika Watanabe, Shuji Hishikawa, Takeshi Nakajima, Takanori Yamagata
Intra-cisterna magna delivery of an AAV vector with the GLUT1 promoter in a pig recapitulates the physiological expression of SLC2A1. Gene therapy 28 (6) (2020)
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 Sayuri Honjo Kawahira, Debora Romeo Bertola, Chong Ae Kim, Masahide Goto, Tetsuya Okazaki, Hiroyuki Yamada, Yoshihiro Maegaki, Hitoshi Osaka, Lock Hock Ngu, Gaik-Siew Ch'ng, 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
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses. Human mutation 42 (1) (2020)
Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, Keng Wee Teik, Seiji Mizuno, Hiroshi Suzumura, Bertrand Isidor, Winnie Peitee Ong, Muzhirah Haniffa, Susan M White, Mari Matsuo, Kayoko Saito, Shubha Phadke, Tomoki Kosho, Patrick Yap, Manisha Goyal, Lorne A Clarke, Rani Sachdev, George McGillivray, Richard J Leventer, Chirag Patel, Takanori Yamagata, Hitoshi Osaka, Yoshiya Hisaeda, Hirofumi Ohashi, Kenji Shimizu, Keisuke Nagasaki, Junpei Hamada, Sumito Dateki, Takashi Sato, Yasutsugu Chinen, Tomonari Awaya, Takeo Kato, Kougoro Iwanaga, Masahiko Kawai, Takashi Matsuoka, Yoshikazu Shimoji, Tiong Yang Tan, Seema Kapoor, Nerine Gregersen, Massimiliano Rossi, Mathieu Marie-Laure, Lesley McGregor, Kimihiko Oishi, Lakshmi Mehta, Greta Gillies, Paul J Lockhart, Kate Pope, Anju Shukla, Katta Mohan Girisha, Ghada M H Abdel-Salam, David Mowat, David Coman, Ok Hwa Kim, Marie-Pierre Cordier, Kate Gibson, Jeff Milunsky, Jan Liebelt, Helen Cox, Salima El Chehadeh, Annick Toutain, Ken Saida, Hiromi Aoi, Gaku Minase, Naomi Tsuchida, Kazuhiro Iwama, Yuri Uchiyama, Toshifumi Suzuki, Kohei Hamanaka, Yoshiteru Azuma, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Atsushi Takata, Satomi Mitsuhashi, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake, Naomichi Matsumoto
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. Journal of human genetics 64 (12) (2019)
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
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. Nature communications 10 (1) (2019)
Takahiro Ikeda, Hitoshi Osaka, Hiroko Shimbo, Makiko Tajika, Masayo Yamazaki, Ayako Ueda, Kei Murayama, Takanori Yamagata
Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome. Human genome variation 5 (2018)
Kazuhiro Iwama, Hitoshi Osaka, Takahiro Ikeda, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Shuichi Ito, Takeshi Mizuguchi, Naomichi Matsumoto
A novel SLC9A1 mutation causes cerebellar ataxia. Journal of human genetics 63 (10) (2018)
Ayako Ueda, Hiroko Shimbo, Yukari Yada, Yasunori Koike, Takanori Yamagata, Hitoshi Osaka
Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia. Human genome variation 5 (2018)
Yongping Lu, Yumiko Ondo, Keiko Shimojima, Hitoshi Osaka, Toshiyuki Yamamoto
A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence. Human genome variation 4 (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Hitoshi Osaka