Concepedia
Statistics
Publications
150
Citations
10.1K
H-Index
56
Active since
2000
Affiliations
Yokohama City University(Current)
Kanagawa Children's Medical Center
Yamagata University
Osaka International Cancer Institute
Hamamatsu University School of Medicine
Yoshinori Tsurusaki is an author at Yokohama City University specializing in genetics, life sciences, and genetic disorders.
Publications per year
2000–2023
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
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
De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
Kazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita et al. · The American Journal of Human Genetics · 2013 · 239 citations · Full text
Life Sciences, Genetics, Molecular Biology +13
1–5 of 150