Noriko Miyake
10PUBLICATIONS
108CO-AUTHORS
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Publications (10)
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|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat
|Feb 20, 2025
Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications.Noriko Miyake, Kentaro Shiga, Yuya Hasegawa
|Nov 05, 2024
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.Simo Li, Sanami Takada, Ghada M H Abdel-Salam
|Jul 16, 2024
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II.Zheng Wang, Mitsuhiro Kometani, Leonid Zeitlin
|Apr 23, 2024
A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome.Yukiko Takeda, Masahiro Ueki, Junpei Matsuhiro
|Apr 20, 2024
Identifying novel disease genes and revealing the pathomechanism of monogenic diseases.Noriko Miyake
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Frequent Collaborators
6 joint publications
Naomichi Matsumoto
2 joint publications
Sebastián Silva
2 joint publications
Atsushi Fujita
2 joint publications
Eriko Koshimizu
1 joint publications
Ken Saida
1 joint publications
Takeshi Mizuguchi
1 joint publications
Yuri Uchiyama
1 joint publications
Mitsuhiro Kato
1 joint publications
Yasunari Sakai
1 joint publications
Noa Lipstein
