Concepedia
Statistics
Publications
301
Citations
17.2K
H-Index
69
Active since
1996
Affiliations
Yokohama City University(Current)
Hamamatsu University School of Medicine
Kanagawa Children's Medical Center
Yamagata University
RIKEN Center for Integrative Medical Sciences
Noriko Miyake is an author at Yokohama City University specializing in genetics, life sciences, and genetic disorders.
Publications per year
1996–2024
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi et al. · Nature Genetics · 2012 · 522 citations
Life Sciences, Genetics, Molecular Genetics +7
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
Hirotomo Saitsu, Taki Nishimura, Kazuhiro Muramatsu et al. · Nature Genetics · 2013 · 474 citations
Life Sciences, Genetics, Neuroscience +10
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7
Satoshi Narumi, Naoko Amano, Tomohiro Ishii et al. · Nature Genetics · 2016 · 333 citations
Life Sciences, Genetics, Molecular Genetics +11
Homozygous c.14576G>A variant of <i>RNF213</i> predicts early-onset and severe form of moyamoya disease
Satoko Miyatake, Noriko Miyake, Hajime Touho et al. · Neurology · 2012 · 303 citations
Life Sciences, Genetics, Molecular Genetics +17
Human genetic variation database, a reference database of genetic variations in the Japanese population
Koichiro Higasa, Noriko Miyake, Jun Yoshimura et al. · Journal of Human Genetics · 2016 · 303 citations · Full text
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