Kazuki Watanabe

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 7

Top Topics

Pulmonary Embolism

Deep Brain Stimulation

Cognitive Impairment

Top Venues

Journal of human genetics

Human genome variation

Neurology. Genetics

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

Publications

Ryota Kawakami, Takuya Hiraide, Kazuki Watanabe, Sachiko Miyamoto, Kota Hira, Kazuyuki Komatsu, Hidetoshi Ishigaki, Kimiyoshi Sakaguchi, Masato Maekawa, Keita Yamashita, Tokiko Fukuda, Isao Miyairi, Tsutomu Ogata, Hirotomo Saitsu
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing. Journal of human genetics (2023)
Ryota Kawakami, Takuya Hiraide, Kazuki Watanabe, Sachiko Miyamoto, Kota Hira, Kazuyuki Komatsu, Hidetoshi Ishigaki, Kimiyoshi Sakaguchi, Masato Maekawa, Keita Yamashita, Tokiko Fukuda, Isao Miyairi, Tsutomu Ogata, Hirotomo Saitsu
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing. Journal of human genetics 69 (2) (2023)
Kazuki Watanabe, Kazuo Kubota, Mitsuko Nakashima, Hirotomo Saitsu
A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1. Human genome variation 10 (1) (2023)
Ryota Kawakami, Takuya Hiraide, Kazuki Watanabe, Sachiko Miyamoto, Kota Hira, Kazuyuki Komatsu, Hidetoshi Ishigaki, Kimiyoshi Sakaguchi, Masato Maekawa, Keita Yamashita, Tokiko Fukuda, Isao Miyairi, Tsutomu Ogata, Hirotomo Saitsu
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing. Journal of human genetics 69 (2) (2023)
Kazuki Watanabe, Mitsuko Nakashima, Rie Wakatsuki, Tomoyasu Bunai, Yasuomi Ouchi, Tomohiko Nakamura, Hiroaki Miyajima, Hirotomo Saitsu
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo. Neurology. Genetics 8 (3) (2022)
Marina Hashiguchi, Yukifumi Monden, Yasuyuki Nozaki, Kazuki Watanabe, Mitsuko Nakashima, Hirotomo Saitsu, Takanori Yamagata, Hitoshi Osaka
A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia. Human genome variation 9 (1) (2022)
Kazuki Watanabe, Mitsuko Nakashima, Satoko Kumada, Hideaki Mashimo, Mikako Enokizono, Keitaro Yamada, Mitsuhiro Kato, Hirotomo Saitsu
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review. Journal of human genetics 66 (12) (2021)