Keiko Yamamoto‐Shimojima

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

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1

Keiko Yamamoto‐Shimojima, Taichi Imaizumi, Yusuke Aoki et al. · Journal of Human Genetics · 2019 · 18 citations

Pathogenesis, Spastic Paraplegia, Potential Treatment Strategy +3

An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU

Shino Shimada, Hirokazu Oguni, Yui Otani et al. · Brain and Development · 2018 · 17 citations

Neurobiology Of Disease, Neurological Disorder, Genetic Disorder +9

Primrose syndrome associated with unclassified immunodeficiency and a novel <i>ZBTB20</i> mutation

Keiko Yamamoto‐Shimojima, Taichi Imaizumi, Hiroyuki Akagawa et al. · American Journal of Medical Genetics Part A · 2019 · 12 citations

Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing

Taichi Imaizumi, Keiko Yamamoto‐Shimojima, Tomoe Yanagishita et al. · Journal of Human Genetics · 2020 · 12 citations

Long-read Sequencing, Breakpoint Junctions, Natural Sciences +14