Ippei Okada

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 · 539 citations

Neurological Disorder, Genetic Disorder, Genetics +8

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi et al. · Nature Genetics · 2012 · 515 citations

Mendelian Disorder, Translational Biology, Disease Mechanism +6

<i>STXBP1</i> mutations in early infantile epileptic encephalopathy with suppression‐burst pattern

Hirotomo Saitsu, Mitsuhiro Kato, Ippei Okada et al. · Epilepsia · 2010 · 155 citations

Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

Hirotomo Saitsu, Jun Tohyama, Tatsuro Kumada et al. · The American Journal of Human Genetics · 2010 · 151 citations · Full text

Mendelian Disorder, Severe Cerebral Hypomyelination, Neurological Disorder +10

SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice

Ippei Okada, Haruka Hamanoue, Koji Terada et al. · The American Journal of Human Genetics · 2010 · 116 citations · Full text

Knockout Mouse, Developmental Biology, Ophthalmology +8