https://doi.org/10.1186/s12883-020-01662-y
S
Soo Yeon Kim
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23
h-index
54
i10-index
Soo Yeon Kim is an academic researcher from Yonsei University. The author has contributed to research in topics: Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders & Epilepsy research and treatment. The author has an h-index of 23, co-authored 149 publications.
ORCID: 0000-0003-2240-3647Papers by this author
worksSerum α-synuclein and IL-1β are increased and correlated with measures of disease severity in children with epilepsy: potential prognostic biomarkers?
2020 · BMC Neurology · 50 citations
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center
2016 · Muscle & Nerve · 34 citations
https://doi.org/10.1002/mus.25396
The Korean undiagnosed diseases program: lessons from a one-year pilot project
2019 · Orphanet Journal of Rare Diseases · 29 citations
https://doi.org/10.1186/s13023-019-1041-5
Mitofusin-2 boosts innate immunity through the maintenance of aerobic glycolysis and activation of xenophagy in mice
2021 · Communications Biology · 25 citations
https://doi.org/10.1038/s42003-021-02073-6
Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
2024 · European Journal of Human Genetics · 22 citations
https://doi.org/10.1038/s41431-024-01542-w
Fatal systemic disorder caused by biallelic variants in FARSA
2022 · Orphanet Journal of Rare Diseases · 10 citations
https://doi.org/10.1186/s13023-022-02457-9
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