Author

Koji M. Nishiguchi

Tohoku UniversityORCID 0000-0001-5987-4421Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Carlo RivoltaiD· 3 shared Akira MurakamiiD· 2 shared Frans P.M. CremersiD· 2 shared Fuyuki MiyaiD· 2 shared Hiroko TerasakiiD· 2 shared Katarina Vizar CisarovaiD· 2 shared Konstantinos NikopoulosiD· 2 shared Masato AkiyamaiD· 2 shared

Activity by Year

2019-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Carlo RivoltaORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineFrontiers in Cell and Developmental BiologyPeer-reviewedFeb 3, 2023

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Daan M. Panneman, Rebekkah J. Hitti‐Malin, Lara K. Holtes…·Susanne Roosing

The paper introduces a cost-effective smMIPs panel for genetic analysis of RP and LCA, achieving a 56% diagnostic yield comparable to WES.

29 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintDec 1, 2019

Systematic detection of Mendelian and non-Mendelian variants associated with retinitis pigmentosa by genome-wide association study

Koji M. Nishiguchi, Fuyuki Miya, Yuka Mori…·Toru Nakazawa

This study uses GWAS to identify Mendelian and non-Mendelian variants associated with retinitis pigmentosa, uncovering new genetic causes and therapeutic targets.

3 citations

humanGWAS summary statistics

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GenomicsNature CommunicationsPeer-reviewedJun 28, 2019

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

Konstantinos Nikopoulos, Katarina Vizar Cisarova, Mathieu Quinodoz…·Carlo Rivolta

The paper identifies a common variant in the Japanese population that shows quasi-Mendelian inheritance patterns in rare retinal ciliopathy.

41 citations

humanwhole-exome sequencing

𝕏 PostBluesky

Koji M. Nishiguchi · henhao