Kumiko Yanagi

Publication Activity (10 Years)

Years Active: 2023-2024
Publications (10 Years): 5

Top Topics

Postmenopausal Women

Tyrosine Kinase

Endoplasmic Reticulum

Top Venues

Human genome variation

American journal of medical genetics. Part A

Journal of human genetics

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

Publications

Nobuhiko Okamoto, Sayaka Yoshida, Ayako Ogitani, Yuri Etani, Kumiko Yanagi, Tadashi Kaname
Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty. American journal of medical genetics. Part A (2024)
Kenichiro Sadamitsu, Kumiko Yanagi, Yuiko Hasegawa, Yoshiko Murakami, Sean E Low, Daikun Ooshima, Yoichi Matsubara, Nobuhiko Okamoto, Tadashi Kaname, Hiromi Hirata
A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures. Journal of human genetics (2024)
Sachi Tokunaga, Hideki Shimomura, Naoko Taniguchi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Yasuhiro Takeshima
A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression. Human genome variation 11 (1) (2024)
Sachi Tokunaga, Hideki Shimomura, Naoko Taniguchi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Yasuhiro Takeshima
A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression. Human genome variation 11 (1) (2024)
Rina Imanishi, Kouichi Nakau, Sorachi Shimada, Hideharu Oka, Ryo Takeguchi, Ryosuke Tanaka, Tatsutoshi Sugiyama, Mitsumaro Nii, Toshio Okamoto, Ken Nagaya, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi
A novel HECW2 variant in an infant with congenital long QT syndrome. Human genome variation 10 (1) (2023)