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Yu Kobayashi

Nihon University JP

ORCID iD 0000-0002-6196-604X
105
Publications
927
Citations
17
H-Index
26
i10-Index
1.5
2yr Mean Cite
-
Cite/Paper
Data combined from OpenAlex . OA = OpenAlex S2 = Semantic Scholar
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Publication & Citation Trends

Most Cited Works

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing OA
Hirotomo Saitsu, Tenpei Akita, Jun Tohyama, Hadassa Goldberg‐Stern, Yu Kobayashi +9 more
Scientific Reports 2015
84
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders
Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Noriyuki Akasaka, Shinichi Magara +6 more
Brain and Development 2015
76
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy OA
Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi +60 more
Nature Communications 2019
69
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation OA
Hirotomo Saitsu, Jun Tohyama, Tom Walsh, Mitsuhiro Kato, Yu Kobayashi +8 more
Journal of Human Genetics 2014
56
West syndrome associated with mosaic duplication of <i>FOXG1</i> in a patient with maternal uniparental disomy of chromosome 14
Jun Tohyama, Toshiyuki Yamamoto, Kana Hosoki, Keisuke Nagasaki, Noriyuki Akasaka +3 more
American Journal of Medical Genetics Part A 2011
35

Publications

104 total

Molecular diagnosis of 405 individuals with autism spectrum disorder PDF

Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Itaru Kushima, Nobuhiko Okamoto et al. - European Journal of Human Genetics, 2023
Cited by 21 OpenAlex

Severe immune checkpoint inhibitor-associated gastritis: A case series and literature review PDF

Yuya Sugiyama, Hiroki Tanabe, Taisuke Matsuya, Yu Kobayashi, Yuki Murakami et al. - Endoscopy International Open, 2022
Cited by 25 OpenAlex

Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants

Yu Kobayashi, Jun Tohyama, Yukitoshi Takahashi, Tomohide Goto, Kazuhiro Haginoya et al. - Brain and Development, 2021
Cited by 28 OpenAlex

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

Toshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, Matias Wagner, Urania Kotzaeridou et al. - Human Mutation, 2020
Cited by 35 OpenAlex

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

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi et al. - Nature Communications, 2019
Cited by 69 OpenAlex

<i>GRIN2D</i> variants in three cases of developmental and epileptic encephalopathy

Naomi Tsuchida, Keisuke Hamada, Masaaki Shiina, Mitsuhiro Kato, Yu Kobayashi et al. - Clinical Genetics, 2018
Cited by 23 OpenAlex

The Incidence and Risk Factors of Venous Thromboembolism in Patients with Inflammatory Bowel Disease: A Prospective Multicenter Cohort Study

Katsuyoshi Ando, Mikihiro Fujiya, Yoshiki Nomura, Yuhei Inaba, Yuya Sugiyama et al. - Digestion, 2018
Cited by 21 OpenAlex

Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency

Yu Kobayashi, Jun Tohyama, Tomoyuki Akiyama, Shinichi Magara, Hideshi Kawashima et al. - Brain and Development, 2016
Cited by 25 OpenAlex

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing PDF

Hirotomo Saitsu, Tenpei Akita, Jun Tohyama, Hadassa Goldberg‐Stern, Yu Kobayashi et al. - Scientific Reports, 2015
Cited by 84 OpenAlex

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

Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Noriyuki Akasaka, Shinichi Magara et al. - Brain and Development, 2015
Cited by 76 OpenAlex

Research Topics

Genetics and Neurodevelopmental Disorders (17) Inflammatory Bowel Disease (16) Epilepsy research and treatment (11) Gastric Cancer Management and Outcomes (8) Genomic variations and chromosomal abnormalities (8)

Frequent Co-Authors

JU
Jun Tohyama
12 joint publications
NA
Naomichi Matsumoto
11 joint publications
HI
Hirotomo Saitsu
9 joint publications
MI
Mitsuhiro Kato
9 joint publications
MI
Mitsuko Nakashima
7 joint publications
SA
Satoko Miyatake
5 joint publications

Affiliations

Nihon University
JP 2025 - 2024
Obayashi (Japan)
JP 2024 - 2024
Kansai Medical University
JP 2025 - 2025
University of Wisconsin–Madison
US 2022 - 2022
Asahikawa Medical University
JP 2025 - 2018

External Profiles

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