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Journal of Human Genetics|October 23, 2023
Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriersAya Yamazaki, Tomoko Kuroda, Nami Kawasaki, et al.
Genomics|September 8, 2009
TULIP1 (RALGAPA1) haploinsufficiency with brain development delayKeiko Shimojima, Yuta Komoike, Jun Tohyama, et al.
Brain & Development|November 8, 2012
PRRT2 mutation in Japanese children with benign infantile epilepsyAkihisa Okumura, Keiko Shimojima, Tetsuo Kubota, et al.
Human Genome Variation|January 14, 2024
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorderRina Shimomura, Tomoe Yanagishita, Kumiko Ishiguro, et al.
Journal of Human Genetics|June 3, 2016
The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutationsMio Hamatani, Naoto Jingami, Yoshinori Tsurusaki, et al.
Human Genome Variation|December 5, 2022
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosisKaoru Eto, Osamu Machida, Tomoe Yanagishita, et al.
European Journal of Medical Genetics|September 17, 2016
7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephalyKeiko Shimojima, Satoshi Narai, Masami Togawa, et al.
Brain & Development|April 7, 2015
Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter diseaseShino Shimada, Keiko Shimojima, Noriko Sangu, et al.
Brain & Development|May 1, 2025
Challenges in genetic counseling for RYR1-related myopathiesRina Shimomura, Yuki Kihara, Tomoe Yanagishita, et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology|December 18, 2012
Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasiaAkihisa Okumura, Masaharu Hayashi, Keiko Shimojima, et al.
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