Author

Takanori Onuki

Chiba Children's HospitalORCID 0000-0001-7798-2100Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

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 Hitomi Nishihata· 1 shared Hitoshi OsakaiD· 1 shared Kazuhiro R. NittaiD· 1 shared Kei MurayamaiD· 1 shared Masaru ShimuraiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Akira OhtakeORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedApr 13, 2023

Strategic validation of variants of uncertain significance in ECHS1 genetic testing

Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki…·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.

8 citations

humanbulk RNA-seq

𝕏 PostBluesky