Concepedia

Yu Kobayashi

YK

Statistics

Publications

26

Citations

750

H-Index

18

Active since

1986

Affiliations

Nishi Niigata Chuo National Hospital(Current)

Yokohama City University

Yamagata University

Hamamatsu University School of Medicine

SHOWA Medical University

Yu Kobayashi is an author at Nishi Niigata Chuo National Hospital specializing in medicine, genetics, and neurogenetics.

ORCID

Publications per year

1986–2024

26

Publications

26

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

Hirotomo Saitsu, Tenpei Akita, Jun Tohyama et al. · Scientific Reports · 2015 · 84 citations · Full text

, , +17

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato et al. · Brain and Development · 2015 · 76 citations

, , +17

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

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu et al. · Nature Communications · 2019 · 71 citations · Full text

, , +17

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

Hirotomo Saitsu, Jun Tohyama, Tom Walsh et al. · Journal of Human Genetics · 2014 · 57 citations

, , +14

De novo variants in <i>CELF2</i> that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

Toshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki et al. · Human Mutation · 2020 · 36 citations

, , +17

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