Author

Norito Kokubun

Dokkyo Medical UniversityORCID 0000-0001-8149-0141Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Assay:long-read sequencing· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Akihiro HashiguchiiD· 1 shared Atsushi FujitaiD· 1 shared Fumiaki TanakaiD· 1 shared Gen SobueiD· 1 shared Haruki KoikeiD· 1 shared Hideyuki TakeuchiiD· 1 shared Hiroshi DoiiD· 1 shared Hiroshi SugiyamaiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Akihiro HashiguchiORCID

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1 paper

Recent·Most cited

Long-read sequencing identifies GGC repeat expansion in human-specific NOTCH2NLC associated with neuronal intranuclear inclusion disease

Jun Sone, Satomi Mitsuhashi, Atsushi Fujita, Takeshi Mizuguchi, Kohei Hamanaka, Keiko Mori, Haruki Koike, Akihiro Hashiguchi, Hiroshi Takashima, Hiroshi Sugiyama, Yutaka Kohno, Yoshihisa Takiyama, Kengo Maeda, Hiroshi Doi, Shigeru Koyano, , Gen Sobue

The paper identifies a GGC repeat expansion in the NOTCH2NLC gene using long-read sequencing, linking it to neuronal intranuclear inclusion disease in both familial and sporadic cases.

Nature Genetics · Jul 22, 2019Peer-reviewedGenetics