Author

Ayumu Sugiura

Juntendo UniversityORCID 0000-0002-4776-1478Unclaimed ORCID profile · follow to get notified of new preprints

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 Hitomi Nishihata· 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

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

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