Author

Masaru Shimura

Chiba Children's HospitalORCID 0000-0002-1998-7349Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Approach:experimental assay· 1 Assay:proteomics· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Akira OhtakeiD· 2 shared Kei MurayamaiD· 2 shared Yasushi OkazakiiD· 2 shared Agnès RötigiD· 1 shared Albert Zishen LimiD· 1 shared Angela PyleiD· 1 shared Anna ArdissoneiD· 1 shared Antònia RibesiD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Akira OhtakeORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Dried blood spot proteomics as a diagnostic framework for citrin deficiency

Eriko Totsune, Daisuke Nakajima, Ryo Konno, Yasuko Mikami-Saito, Natsuko Arai‐Ichinoi, Hikaru Nishida, Hiroko Yagi, Takashi Ishige, Hoshiro Suzuki, Matsuyuki Shirota, Jun Takayama, Chika Takano-Asai, Masaru Shimura, Hideo Sasai, Tomoko Lee, , Yoichi Wada

This paper develops a dried blood spot proteomics method to diagnose citrin deficiency by quantifying SLC25A13 and identifying a 15-protein signature with high accuracy.

medRxiv · May 28, 2026 · PreprintGenetic & Genomic Medicine

Strategic validation of variants of uncertain significance in ECHS1 genetic testing

Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki, Tomohiro Ebihara, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Noriko Ichino, Yoshie Nagatakidani, Hitomi Nishihata, Kazuhiro R. Nitta, Yukiko Yatsuka, Atsuko Imai‐Okazaki, Yibo Wu, Hitoshi Osaka, , Yasushi Okazaki

This study validates variants of uncertain significance in ECHS1 using functional assays and multi-omics analysis, identifying new pathogenic variants and cases of mitochondrial disease.

Journal of Medical Genetics · Apr 13, 2023Peer-reviewedGenetic & Genomic Medicine

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Sarah L. Stenton, Masaru Shimura, Dorota Piekutowska‐Abramczuk, Peter Freisinger, Felix Distelmaier, Johannes Adalbert Mayr, Christine C. Makowski, Boriana Büchner, Bader Alhaddad, Charlotte L. Alston, Anna Ardissone, Rui Ban, Ivo Barić, Riccardo Berutti, Theresa Brunet, , Holger Prokisch

This study analyzes 2,023 pediatric exomes to diagnose mitochondrial disease, identifying 1,109 molecular diagnoses and 62 novel disease genes through exome sequencing and functional studies.

medRxiv · Jun 21, 2021 · PreprintGenetic & Genomic Medicine