Shino Shimada

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy

Atsushi Ishii, Mutsuki Shioda, Akihisa Okumura et al. · Gene · 2013 · 98 citations

Sporadic Cases, Partial Seizures, Recurrent Kcnt1 Mutation +1

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

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

Shino Shimada, Keiko Shimojima, Nobuhiko Okamoto et al. · Brain and Development · 2014 · 64 citations

Chromatin, Critical Chromosomal Regions, Deletion Syndrome-related Complications +10

Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders

Toshiyuki Yamamoto, Taichi Imaizumi, Keiko Yamamoto‐Shimojima et al. · Brain and Development · 2019 · 60 citations

Neurodevelopmental Disorders, Genetic Disorder, Genetics +4

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