Concepedia

Jun Tohyama

JT

Statistics

Publications

85

Citations

5.2K

H-Index

40

Active since

1992

Affiliations

Nishi Niigata Chuo National Hospital(Current)

Yokohama City University

Yamagata University

Hamamatsu University School of Medicine

SHOWA Medical University

Jun Tohyama is an author at Nishi Niigata Chuo National Hospital specializing in life sciences, genetics, and neurogenetics.

ORCID

Publications per year

1992–2023

85

Publications

85

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

Hirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi et al. · Nature Genetics · 2008 · 549 citations

, , +12

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

Kazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita et al. · The American Journal of Human Genetics · 2013 · 239 citations · Full text

, , +13

Somatic Mutations in the <scp><i>MTOR</i></scp> gene cause focal cortical dysplasia type <scp>II</scp>b

Mitsuko Nakashima, Hirotomo Saitsu, Nobuyuki Takei et al. · Annals of Neurology · 2015 · 198 citations

, , +17

Clinical spectrum of <i>SCN2A</i> mutations expanding to Ohtahara syndrome

Kazuyuki Nakamura, Mitsuhiro Kato, Hitoshi Osaka et al. · Neurology · 2013 · 196 citations

, , +17

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki et al. · Cell Reports · 2018 · 185 citations · Full text

, , +14

1–5 of 85