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Journal of Human Genetics|May 2, 2020
Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencingTaichi Imaizumi, Keiko Yamamoto-Shimojima, Tomoe Yanagishita, et al.Brain & Development|June 11, 2018
Two cases of childhood narcolepsy mimicking epileptic seizures in video-EEG/EMGTomoe Yanagishita, Susumu Ito, Yui Ohtani, et al.Human Genetics|June 15, 2020
Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndromeTaichi Imaizumi, Keiko Yamamoto-Shimojima, Tomoe Yanagishita, et al.Human Mutation|September 9, 2020
Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like patternTomoe Yanagishita, Taichi Imaizumi, Keiko Yamamoto-Shimojima, et al.Brain & Development|January 13, 2019
Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from JapanTomoe Yanagishita, Keiko Yamamoto-Shimojima, Sayaka Nakano, et al.Human Genome Variation|November 30, 2021
Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizuresKeiko Shimojima Yamamoto, Tomoe Yanagishita, Hisako Yamamoto, et al.Human Genome Variation|May 7, 2021
A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomitingTomoe Yanagishita, Kaoru Eto, Keiko Yamamoto-Shimojima, et al.Human Genome Variation|December 5, 2022
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosisKaoru Eto, Osamu Machida, Tomoe Yanagishita, et al.Human Genome Variation|January 14, 2024
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorderRina Shimomura, Tomoe Yanagishita, Kumiko Ishiguro, et al.Brain & Development|May 1, 2025
Challenges in genetic counseling for RYR1-related myopathiesRina Shimomura, Yuki Kihara, Tomoe Yanagishita, et al.Pageof 2