Author

Hitomi Nishihata

Kindai University

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Akira OhtakeiD· 1 shared Atsuko Imai‐OkazakiiD· 1 shared Ayumu SugiuraiD· 1 shared Hitoshi OsakaiD· 1 shared Kazuhiro R. NittaiD· 1 shared Kei MurayamaiD· 1 shared Masaru ShimuraiD· 1 shared Noriko IchinoiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Akira OhtakeORCID

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1 paper

Recent·Most cited

Strategic validation of variants of uncertain significance in ECHS1 genetic testing

Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki, Tomohiro Ebihara, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Noriko Ichino, Yoshie Nagatakidani, Hitomi Nishihata, Kazuhiro R. Nitta, Yukiko Yatsuka, Atsuko Imai‐Okazaki, Yibo Wu, Hitoshi Osaka, , Yasushi Okazaki

This study validates variants of uncertain significance in ECHS1 using functional assays and multi-omics analysis, identifying new pathogenic variants and cases of mitochondrial disease.

Journal of Medical Genetics · Apr 13, 2023Peer-reviewedGenetic & Genomic Medicine