Personal information

Activities

Collapse all

Works (4)

Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome

Human Genetics and Genomics Advances
2023-10 | Journal article
DOI: 10.1016/j.xhgg.2023.100238
Part of ISSN: 2666-2477
Contributors: Yosuke Nishio; Kohji Kato; Frederic Tran Mau-Them; Hiroshi Futagawa; Chloé Quélin; Saori Masuda; Antonio Vitobello; Shiomi Otsuji; Hossam H. Shawki; Hisashi Oishi et al.
Source: Self-asserted source
Shiomi Otsuji

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

Journal of Medical Genetics
2023-04 | Journal article
DOI: 10.1136/jmg-2022-108602
Contributors: Shiomi Otsuji; Yosuke Nishio; Maki Tsujita; Marlene Rio; Céline Huber; Carlos Antón-Plágaro; Seiji Mizuno; Yoshihiko Kawano; Satoko Miyatake; Marleen Simon et al.
Source: check_circle
Crossref

Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A

Brain and Development
2022-03 | Journal article
DOI: 10.1016/j.braindev.2021.11.007
Part of ISSN: 0387-7604
Contributors: Kouji Isobe; Daisuke Ieda; Fuyuki Miya; Rieko Miyachi; Shiomi Otsuji; Masami Asai; Tatsuhiko Tsunoda; Kenjiro Kosaki; Ayako Hattori; Shinji Saitoh et al.
Source: Self-asserted source
Shiomi Otsuji

Sudden Death in a 1-Year-Old Japanese Girl: A Phe110Ile Missense Mutation in the Cardiac Troponin T2 Gene Possibly Associated with Low Activity of the Cardiac Mitochondrial Respiratory Chain Complex I

Journal of Pediatric Cardiology and Cardiac Surgery
2021-03-01 | Report
DOI: 10.24509/jpccs.19-001
Part of ISSN: 24331783
Part of ISSN: 24332720
Contributors: Shiomi Otsuji; Iori Kojima; Masami Asai; Mihoko Mizuno
Source: Self-asserted source
Shiomi Otsuji

Peer review (1 review for 1 publication/grant)

Review activity for Journal of human genetics. (1)
How many people are using ORCID?