Author

Takaaki Hayashi

Jikei University School of MedicineORCID 0000-0002-1535-0279Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Elfride B. W. De BaereiD· 3 shared Alaa AlTalbishiiD· 2 shared Alexander HoischeniD· 2 shared Bart Peter LeroyiD· 2 shared Camiel J. F. BooniD· 2 shared Carel B. HoyngiD· 2 shared Carmen AyusoiD· 2 shared Caroline C. W. KlaveriD· 2 shared

Activity by Year

2020-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Elfride B. W. De BaereORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 6, 2025

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková…·Gaël Manès

The paper identifies de novo and inherited variants in U4 and U6 snRNAs causing retinitis pigmentosa and shows their impact on snRNP biogenesis.

15 citations

𝕏 PostBluesky

GeneticsGenetics in MedicinePeer-reviewedApr 19, 2020

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero…·Frans P.M. Cremers

The paper identifies pathogenic deep-intronic and structural variants in 26% of unsolved Stargardt disease cases using integrated genomics and transcriptomics.

131 citationstop 2%

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintFeb 20, 2020

New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease.

James A. Poulter, Molly S. C. Gravett, Rachel L. Taylor…·Chris F. Inglehearn

The paper identifies new pathogenic GRK1 variants in Oguchi disease and evaluates their impact on protein structure using bioinformatics tools.

DOI 10.1101/2020.02.20.936880

humanwhole-exome sequencing

𝕏 PostBluesky