Concepedia
Statistics
Publications
275
Citations
15.2K
H-Index
67
Active since
1991
Affiliations
Yokohama City University(Current)
Hamamatsu University School of Medicine
Kanagawa Children's Medical Center
Yamagata University
SHOWA Medical University
Hirotomo Saitsu is an author at Yokohama City University specializing in genetics, life sciences, and genetic disorders.
Publications per year
1991–2023
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
Hirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi et al. · Nature Genetics · 2008 · 549 citations
Medicine, Genetics, Molecular Genetics +12
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
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