Tomonari Awaya

Scopus Author ID ResearcherID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 9

Top Venues

Scientific reports

Nature communications

Neurology. Genetics

Proceedings of the National Academy of Sciences of the United States of America

京都大学 / Kyoto University

Kyoto University (PHD)

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

Affiliation History

京都大学 / Kyoto University Jul 01 2016

Japan

特定助教 / Program-Specific Assistant Professor :: 医学研究科 / Graduate Schools of Medicine

Kyoto University Graduate School of Medicine Jul 01 2016

Japan

Assistant Professor :: Anatomy and Developmental Biology

京都大学 / Kyoto University May 01 2010 - Jun 30 2016

Japan

助教 / Assistant Professor :: 医学部附属病院 / Kyoto University Hospital

Kyoto University Graduate School of Medicine May 01 2010 - Jun 30 2016

Japan

Assistant Professor :: Pediatrics

Kyoto University Hospital May 01 2010 - Jun 30 2016

Japan

Assistant Professor :: Pediatrics

Kyoto University Hospital Apr 01 2005 - Mar 31 2007

Japan

Staff physician :: Pediatrics

Nagoya City University Apr 01 2003 - Mar 31 2005

Japan

Resident :: Pediatrics

Education History

Kyoto University Apr 01 2007 - Apr 30 2010

Japan

PHD :: Graduate School of Medicine

Publications

Rasha El Sherif, Yoshihiko Saito, Tomonari Awaya, Satoru Noguchi, Ichizo Nishino
Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD. Neurology. Genetics 10 (2) (2024)
Rasha El Sherif, Yoshihiko Saito, Tomonari Awaya, Satoru Noguchi, Ichizo Nishino
Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD. Neurology. Genetics 10 (2) (2024)
Masahiko Ajiro, Tomonari Awaya, Young Jin Kim, Kei Iida, Masatsugu Denawa, Nobuo Tanaka, Ryo Kurosawa, Shingo Matsushima, Saiko Shibata, Tetsunori Sakamoto, Lorenz Studer, Adrian R Krainer, Masatoshi Hagiwara
Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia. Nature communications 12 (1) (2021)
Masahiko Ajiro, Tomonari Awaya, Young Jin Kim, Kei Iida, Masatsugu Denawa, Nobuo Tanaka, Ryo Kurosawa, Shingo Matsushima, Saiko Shibata, Tetsunori Sakamoto, Lorenz Studer, Adrian R Krainer, Masatoshi Hagiwara
Author Correction: Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia. Nature communications 12 (1) (2021)
Ryo Kimura, Roy Lardenoije, Kiyotaka Tomiwa, Yasuko Funabiki, Masatoshi Nakata, Shiho Suzuki, Tomonari Awaya, Takeo Kato, Shin Okazaki, Toshiya Murai, Toshio Heike, Bart P F Rutten, Masatoshi Hagiwara
Integrated DNA methylation analysis reveals a potential role for ANKRD30B in Williams syndrome. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 45 (10) (2020)
Ryo Kimura, Masatoshi Nakata, Yasuko Funabiki, Shiho Suzuki, Tomonari Awaya, Toshiya Murai, Masatoshi Hagiwara
An epigenetic biomarker for adult high-functioning autism spectrum disorder. Scientific reports 9 (1) (2019)
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)
Akiko Nakano-Kobayashi, Tomonari Awaya, Isao Kii, Yuto Sumida, Yukiko Okuno, Suguru Yoshida, Tomoe Sumida, Haruhisa Inoue, Takamitsu Hosoya, Masatoshi Hagiwara
Prenatal neurogenesis induction therapy normalizes brain structure and function in Down syndrome mice. Proceedings of the National Academy of Sciences of the United States of America 114 (38) (2017)
Takeshi Yoshida, Tomonari Awaya, Tatsuya Jonouchi, Ryo Kimura, Shigemi Kimura, Takumi Era, Toshio Heike, Hidetoshi Sakurai
A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells. Scientific reports 7 (1) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Tomonari Awaya