Author

Yoshihito Kishita

Juntendo UniversityORCID 0000-0003-4978-1680Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:gene regulatory network inference· 1 Assay:proteomics· 1

Frequent Co-Authors

Akira OhtakeiD· 3 shared Kei MurayamaiD· 3 shared Yasushi OkazakiiD· 3 shared Charlotte L. AlstoniD· 2 shared Robert William TayloriD· 2 shared Agata OliwaiD· 1 shared Agnès RötigiD· 1 shared Agnieszka NadeliD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Akira OhtakeORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 11, 2026

De novo truncation variants in the low-complexity C-terminal region of XRN1 are associated with a dominant form of lethal infantile mitochondrial cardiomyopathy

Liana N. Semcesen, Lucie S Taylor, Leah E. Frajman…·Alison G. Compton

The paper identifies de novo truncating variants in XRN1's C-terminal region causing lethal infantile mitochondrial cardiomyopathy by disrupting its interaction with EDC4.

DOI 10.64898/2026.01.08.26343555

humanproteomics

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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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Genetic & Genomic MedicineGenome MedicinePeer-reviewedApr 4, 2022

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich…·Holger Prokisch

The paper implements RNA-seq in diagnostics for Mendelian diseases, achieving a 16% diagnosis rate in WES-inconclusive cases by detecting aberrant expression, splicing, and mono-allelic expression.

210 citationstop 1%

humanwhole-exome sequencing

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