Concepedia

Yuri Uchiyama

YU

50

Publications

1.6K

Citations

27

H-Index

2016

Active since

Affiliations

Yokohama City University(Current)

Yokohama City University Hospital

Juntendo University

Hamamatsu University School of Medicine

Osaka Women's and Children's Hospital

Yuri Uchiyama is an author at Yokohama City University specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

2016–2024

50

Publications

50

Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis

Naomi Tsuchida, Yosuke Kunishita, Yuri Uchiyama et al. · Annals of the Rheumatic Diseases · 2021 · 129 citations

Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome

Yuri Uchiyama, Mitsuko Nakashima, Satoshi Watanabe et al. · Scientific Reports · 2016 · 73 citations · Full text

Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing

Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita et al. · npj Genomic Medicine · 2022 · 72 citations · Full text

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Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu et al. · Nature Communications · 2019 · 67 citations · Full text

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto et al. · Journal of Human Genetics · 2019 · 64 citations · Full text

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