Yosuke Nishio
8PUBLICATIONS
67CO-AUTHORS
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Publications (8)
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|Apr 14, 2026
Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant.Toshihiko Iwaki, Yosuke Nishio, Sachiyo Takagi
|Mar 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.Ilaria Parenti, Alina Hesters, Marta Gil-Salvador
|Dec 29, 2025
Gerstmann-Sträussler-Scheinker disease mimicking primary progressive multiple sclerosis: A case with positive oligoclonal bands.Miwa Ito, Hiroki Masuda, Marie Morooka
|Jul 02, 2025
Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.Kohji Kato, Yosuke Nishio, Kirsty J McMillan
|May 28, 2025
De novo CDKN1C variant in Beckwith-Wiedermann spectrum with atypical complications.Yuri Moriura, Yosuke Nishio, Shintaro Ichimura
|Feb 12, 2025
Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping.Norihiro Shimizu, Yoichi Mashimo, Hirotaka Yokouchi
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Frequent Collaborators
5 joint publications
Tomoo Ogi
5 joint publications
Shinji Saitoh
2 joint publications
Shiomi Otsuji
2 joint publications
Peter J Cullen
2 joint publications
Kohji Kato
1 joint publications
Maki Tsujita
1 joint publications
Carlos Antón-Plágaro
1 joint publications
Seiji Mizuno
1 joint publications
Satoko Miyatake
1 joint publications
Richard H van Jaarsveld
