Author

Satoko Miyatake

Yokohama City UniversityORCID 0000-0001-7587-5168Unclaimed 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 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Assay:long-read sequencing· 1 Assay:spatial transcriptomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Naomichi MatsumotoiD· 2 shared Akihiko MiyauchiiD· 1 shared Annarita ScardamagliaiD· 1 shared Anne‐Sophie Denommé‐PichoniD· 1 shared Antoine CivitiD· 1 shared Antonio VitobelloiD· 1 shared Chadi Al Alam· 1 shared Christopher J. CarrolliD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Naomichi MatsumotoORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 26, 2023

Biallelic null variants in PNPLA8 cause microcephaly through the reduced abundance of basal radial glia

Yuji Nakamura, Issei S. Shimada, Reza Maroofian…·Shinji Saitoh

This study identifies biallelic PNPLA8 variants causing microcephaly by reducing basal radial glia in cerebral organoids and disrupting phospholipid metabolism.

1 citation

humanbulk RNA-seq

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GeneticsGenome biologyPeer-reviewedMar 19, 2019

Robust detection of tandem repeat expansions from long DNA reads

Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi…·Naomichi Matsumoto

This paper develops a method to detect tandem repeat expansions from long DNA reads, identifying pathological expansions by comparing to healthy controls.

154 citationstop 2%

humanlong-read sequencing

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