Noriko Miyake

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 10

Top Topics

Autism Spectrum Disorder

Top Venues

The Journal of experimental medicine

Clinical genetics

European journal of human genetics : EJHG

Pediatrics international : official journal of the Japan Pediatric Society

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

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)
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)
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)
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)
Noriko Miyake
Identifying novel disease genes and revealing the pathomechanism of monogenic diseases. Pediatrics international : official journal of the Japan Pediatric Society 66 (1) (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)
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)
Sanami Takada, Sebastian Silva, Ivonne Zamorano, Andrea Pérez, Chisato Iwabuchi, Noriko Miyake
Human phenotype caused by biallelic KDM4B frameshift variant. Clinical genetics (2023)
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
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy. Clinical genetics 100 (6) (2021)
Noriko Miyake, Sebastian Silva, Mónica Troncoso, Nobuhiko Okamoto, Yoshiki Andachi, Mitsuhiro Kato, Chisato Iwabuchi, Mio Hirose, Atsushi Fujita, Yuri Uchiyama, Naomichi Matsumoto
A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face. Clinical genetics (2021)