Author

Kaoru Fujinami

Keio UniversityORCID 0000-0003-4248-0033Unclaimed 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 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Assay:whole-genome sequencing· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Andrew R. WebsteriD· 2 shared Elfride B. W. De BaereiD· 2 shared Gavin ArnoiD· 2 shared Takaaki HayashiiD· 2 shared Abdur Rehman· 1 shared Adrian DockeryiD· 1 shared Alaa AlTalbishiiD· 1 shared Alexander HoischeniD· 1 shared

Activity by Year

2020-2020 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersBioinformatics

Andrew R. WebsterORCID

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3 papers

Recent·Most cited

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

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BioinformaticsPLoS ONEPeer-reviewedApr 9, 2020

Phenogenon: Gene to Phenotype Associations for Rare Genetic Diseases

Nikolas Pontikos, Cian Murphy, Ismail Moghul…·Jing Yu

Phenogenon identifies gene-phenotype associations in rare genetic diseases by integrating phenotype ontologies, variant frequency data, and pathogenicity scores, uncovering both known and novel relations.

10 citations

humanwhole-exome 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