Toshiyuki Itai

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu et al. · Nature Communications · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin et al. · The American Journal of Human Genetics · 2021 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

Kohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi et al. · Genome Medicine · 2022 · 54 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Prenatal clinical manifestations in individuals with <i>COL4A1/2</i> variants

Toshiyuki Itai, Satoko Miyatake, Masataka Taguri et al. · Journal of Medical Genetics · 2020 · 43 citations

Medicine, Genetics, Obstetrics +16

De novo variants in <i>CELF2</i> that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

Toshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki et al. · Human Mutation · 2020 · 36 citations

Life Sciences, Genetics, Molecular Genetics +17