Hirotomo Saitsu

Hirotomo Saitsu

Hamamatsu University School of Medicine - Hamamatsu / Japan
Medical and Health Sciences / Biochemistry
AD Scientific Index ID: 344067
浜松医科大学
person_outline Hirotomo Saitsu's MOST POPULAR ARTICLES
1-) De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy Nature genetics 40 (6), 782-788, 2008
2-) Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome Nature genetics 44 (4), 376-378, 2012
3-) De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood Nature genetics 45 (4), 445-449, 2013
4-) Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease Neurology 78 (11), 803-810, 2012
5-) Human genetic variation database, a reference database of genetic variations in the Japanese population Journal of human genetics 61 (6), 547-553, 2016