Author

Shigeru Koyano

Yokohama City UniversityORCID 0000-0002-7424-4302Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Assay:long-read sequencing· 1 Approach:statistical model· 1

Frequent Co-Authors

Gen SobueiD· 2 shared Hiroshi TakashimaiD· 2 shared Akihiro HashiguchiiD· 1 shared Akio KikuchiiD· 1 shared Akiyoshi KakitaiD· 1 shared Alessandro FillaiD· 1 shared Alexandra DürriD· 1 shared Alexis BriceiD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Gen SobueORCID

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2 papers

Recent·Most cited

Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy.

Yasuo Nakahara, Jun Mitsui, Hidetoshi Date, Kristine Joyce L. Porto, Yasuhiro Hayashi, Atsushi Yamashita, Yoshio Kusakabe, Takashi Matsukawa, Hiroyuki Ishiura, Tsutomu Yasuda, Atsushi Iwata, Jun Goto, Yaeko Ichikawa, Yoshio Momose, Yuji Takahashi, , Shoji Tsuji

This study identifies a new susceptibility locus, PLA2G4C, for Multiple System Atrophy through a genome-wide association study and functional analysis of a risk variant.

medRxiv · May 2, 2023 · PreprintGenetic & Genomic Medicine

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