Tomoe Yanagishita

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

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis

Kaoru Eto, Osamu Machida, Tomoe Yanagishita et al. · Human Genome Variation · 2022 · 16 citations · Full text

Genetics, Pathology, Molecular Genetics +20

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

Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome

Taichi Imaizumi, Keiko Yamamoto‐Shimojima, Tomoe Yanagishita et al. · Human Genetics · 2020 · 11 citations

Down Syndrome, Chromatin, Mendelian Disorder +7

<scp><i>HECW2</i></scp>‐related disorder in four Japanese patients

Tomoe Yanagishita, Takuya Hirade, Keiko Shimojima Yamamoto et al. · American Journal of Medical Genetics Part A · 2021 · 11 citations