Midori Sugawara

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

CDKL5 alterations lead to early epileptic encephalopathy in both genders

Jao‐Shwann Liang, Keiko Shimojima, Rumiko Takayama et al. · Epilepsia · 2011 · 69 citations · Full text

Interstitial Duplication of 2q32.1–q33.3 in a Patient With Epilepsy, Developmental Delay, and Autistic Behavior

Daisuke Usui, Shino Shimada, Keiko Shimojima et al. · American Journal of Medical Genetics Part A · 2013 · 58 citations

Clinical manifestations of Xq28 functional disomy involving <i>MECP2</i> in one female and two male patients

Shino Shimada, Nobuhiko Okamoto, Kyoko Hirasawa et al. · American Journal of Medical Genetics Part A · 2013 · 55 citations

MECP2 duplication syndrome in both genders

Shino Shimada, Nobuhiko Okamoto, Masahiro Ito et al. · Brain and Development · 2012 · 53 citations

Infertility, Mendelian Disorder, Genetic Disorder +4