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T. Yanagishita · SciRah

Researcher profile · Semantic Scholar

T. Yanagishita

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T. Yanagishita — researcher profile on SciRah

h-index: 7
Works: 20
Citations: 133

Most-cited papers

Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders.
Toshiyuki Yamamoto, Taichi Imaizumi, Keiko Yamamoto-Shimojima, Yongping Lu +20 more
2019Brain & development (Tokyo. 1979)42 citations
Semantic Scholar
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis
K. Eto, O. Machida, T. Yanagishita, Keiko Shimojima Yamamoto +9 more
2022Human Genome Variation13 citations Open access
Semantic Scholar
HECW2‐related disorder in four Japanese patients
T. Yanagishita, Takuya Hirade, Keiko Shimojima Yamamoto, M. Funatsuka +12 more
2021American Journal of Medical Genetics. Part A12 citations
Semantic Scholar
Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing
Taichi Imaizumi, Keiko Yamamoto-Shimojima, T. Yanagishita, Y. Ondo +1 more
2020Journal of Human Genetics11 citations
Semantic Scholar
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, T. Yanagishita, Y. Ondo +3 more
2020Human Genetics10 citations
Semantic Scholar
Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures
Keiko Shimojima Yamamoto, T. Yanagishita, Hisako Yamamoto, Yusaku Miyamoto +6 more
2021Human Genome Variation8 citations Open access
Semantic Scholar
Two cases of childhood narcolepsy mimicking epileptic seizures in video-EEG/EMG.
T. Yanagishita, S. Ito, Y. Ohtani, K. Eto +3 more
2018Brain & development (Tokyo. 1979)7 citations
Semantic Scholar
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay
K. Hamanaka, Atsushi Fujita, S. Miyatake, K. Misawa +63 more
2025npj Genomic Medicine6 citations Open access
Semantic Scholar
Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan.
T. Yanagishita, Keiko Yamamoto-Shimojima, Sayaka Nakano, T. Sasaki +3 more
2019Brain & development (Tokyo. 1979)6 citations
Semantic Scholar
Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2‐associated syndrome
H. Kurosaka, Sayuri Yamamoto, K. Hirasawa, T. Yanagishita +12 more
2023American Journal of Medical Genetics. Part A5 citations Open access
Semantic Scholar
A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting
T. Yanagishita, K. Eto, Keiko Yamamoto-Shimojima, O. Segawa +7 more
2021Human Genome Variation5 citations Open access
Semantic Scholar
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder
Rina Shimomura, T. Yanagishita, Kumiko Ishiguro, Minobu Shichiji +9 more
2024Human Genome Variation3 citations Open access
Semantic Scholar
Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano‐like pattern
T. Yanagishita, Taichi Imaizumi, Keiko Yamamoto-Shimojima, T. Yano +3 more
2020Human Mutation2 citations Open access
Semantic Scholar
Compound Heterozygous ALDH7A1 Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy
T. Yanagishita, Keiko Yamamoto-Shimojima, Takayoshi Koike, Hirosato Nasu +4 more
20192 citations
Semantic Scholar
Corrigendum to “HECW2‐related disorder in four Japanese patients. Am J Med Genet Part A. First published: 28 May 2021 https://doi.org/10.1002/ajmg.a.62363”
T. Yanagishita, Takuya Hirade, Keiko Shimojima Yamamoto, M. Funatsuka +12 more
2021American Journal of Medical Genetics. Part A1 citations Open access
Semantic Scholar
Challenges in genetic counseling for RYR1-related myopathies.
Rina Shimomura, Yuki Kihara, T. Yanagishita, Kumiko Ishiguro +10 more
2025Brain & development (Tokyo. 1979)0 citations
Semantic Scholar
Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures
Keiko Shimojima Yamamoto, T. Yanagishita, Hisako Yamamoto, Yusaku Miyamoto +6 more
2021Human Genome Variation0 citations Open access
Semantic Scholar
A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting
T. Yanagishita, K. Eto, Keiko Yamamoto-Shimojima, O. Segawa +7 more
2021Human Genome Variation0 citations Open access
Semantic Scholar
A Novel PAFAH1B1 Splicing Variant Identified in a Patient with Classical Lissencephaly
T. Yanagishita, K. Eto, Keiko Yamamoto-Shimojima, Taichi Imaizumi +2 more
20200 citations
Semantic Scholar
Two cases of narcolepsy with characteristic cataplexy recorded by long-term video EEG
T. Yanagishita
20170 citations
Semantic Scholar

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