Kohji Kato

Publication Activity (10 Years)

Years Active: 2019-2022
Publications (10 Years): 6

Top Topics

Dna Damage Response

Intellectual Disability

Tyrosine Kinase

Alcohol Consumption

Top Venues

Journal of medical genetics

Molecular genetics & genomic medicine

Science advances

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Céline Huber, Carlos Antón-Plágaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J Cullen, Shinji Saitoh, Kohji Kato
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome. Journal of medical genetics (2022)
Kohji Kato, Fuyuki Miya, Yasuyoshi Oka, Seiji Mizuno, Shinji Saitoh
A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders. Journal of human genetics 66 (5) (2020)
Tadashi Nagata, Masaki Matsushita, Kenichi Mishima, Yasunari Kamiya, Kohji Kato, Miho Toyama, Tomoo Ogi, Naoki Ishiguro, Hiroshi Kitoh
Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report. Molecular genetics & genomic medicine 8 (3) (2020)
Yasuyoshi Oka, Motoharu Hamada, Yuka Nakazawa, Hideki Muramatsu, Yusuke Okuno, Koichiro Higasa, Mayuko Shimada, Honoka Takeshima, Katsuhiro Hanada, Taichi Hirano, Toshiro Kawakita, Hirotoshi Sakaguchi, Takuya Ichimura, Shuichi Ozono, Kotaro Yuge, Yoriko Watanabe, Yuko Kotani, Mutsumi Yamane, Yumiko Kasugai, Miyako Tanaka, Takayoshi Suganami, Shinichiro Nakada, Norisato Mitsutake, Yuichiro Hara, Kohji Kato, Seiji Mizuno, Noriko Miyake, Yosuke Kawai, Katsushi Tokunaga, Masao Nagasaki, Seiji Kito, Keiichi Isoyama, Masafumi Onodera, Hideo Kaneko, Naomichi Matsumoto, Fumihiko Matsuda, Keitaro Matsuo, Yoshiyuki Takahashi, Tomoji Mashimo, Seiji Kojima, Tomoo Ogi
Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome. Science advances 6 (51) (2020)
Kohji Kato, Seiji Mizuno, Jenny Morton, Miho Toyama, Yuichiro Hara, Evangeline Wasmer, Alan Lehmann, Tomoo Ogi
Expanding the phenotype of biallelic loss-of-function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complications. American journal of medical genetics. Part A 185 (1) (2020)
Kohji Kato, Yasuyoshi Oka, Hideki Muramatsu, Filipp F Vasilev, Takanobu Otomo, Hisashi Oishi, Yoshihiko Kawano, Hiroyuki Kidokoro, Yuka Nakazawa, Tomoo Ogi, Yoshiyuki Takahashi, Shinji Saitoh
Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. Journal of medical genetics 57 (4) (2019)