Keiko Shimojima

Homozygous c.14576G&gt;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 · 300 citations

Reduced expression by <i>SETBP1</i> haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome

Isabel Filges, Keiko Shimojima, Nobuhiko Okamoto et al. · Journal of Medical Genetics · 2010 · 123 citations

<i>STXBP1</i> mutations cause not only Ohtahara syndrome but also West syndrome—Result of Japanese cohort study

Motoko Otsuka, Hirokazu Oguni, Jao‐Shwann Liang et al. · Epilepsia · 2010 · 113 citations · Full text

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

Keiko Shimojima, Midori Sugawara, Minobu Shichiji et al. · Journal of Human Genetics · 2011 · 82 citations · Full text

Loss-of-function Mutation, Genetic Disorder, Genetics +8

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

Toshiyuki Yamamoto, Anna Wilsdon, Shelagh Joss et al. · Journal of Human Genetics · 2014 · 73 citations · Full text

Xq22 Microdeletions, Genetic Disorder, Medicine +7