Author

Atsushi Fujita

Yokohama City UniversityORCID 0000-0003-1572-1014Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:long-read sequencing· 1 Organism:mouse· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Naomichi MatsumotoiD· 2 shared A. James BarkovichiD· 1 shared Akihiro HashiguchiiD· 1 shared Alban C. ZiegleriD· 1 shared Alexandra AfenjariD· 1 shared Allan Micheil InnesiD· 1 shared Amy Sarah Kimball· 1 shared Ashley L. Lennox· 1 shared

Activity by Year

2019-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetics

Naomichi MatsumotoORCID

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2 papers

Recent·Most cited

Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development

Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang, Bethany Johnson-Kerner, Lindsey Suit, Srivats Venkataramanan, Charles J. Sheehan, Fernando C. Alsina, Brieana Fregeau, Kimberly A. Aldinger, Ching Moey, Iryna V. Lobach, Alexandra Afenjar, Dusica Babovic‐Vuksanovic, Stéphane Bezieau, , Elliott H. Sherr

This study identifies DDX3X mutations as causing neurodevelopmental disorders by disrupting RNA metabolism and neurogenesis during fetal cortical development.

Neuron · Mar 4, 2020Peer-reviewedGenetics

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