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POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy.
Kashiki H, Li H, Miyamoto S, Ueno H, Tsurusaki Y, Ikeda C, Kurata H, Okada T, Shimazu T, Imamura H, Enomoto Y, Takanashi JI, Kurosawa K, Saitsu H, Inoue K. Kashiki H, et al. Among authors: miyamoto s. Neurol Genet. 2020 Oct 13;6(6):e524. doi: 10.1212/NXG.0000000000000524. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33134519 Free PMC article.
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.
Miyamoto S, Kato M, Hiraide T, Shiohama T, Goto T, Hojo A, Ebata A, Suzuki M, Kobayashi K, Chong PF, Kira R, Matsushita HB, Ikeda H, Hoshino K, Matsufuji M, Moriyama N, Furuyama M, Yamamoto T, Nakashima M, Saitsu H. Miyamoto S, et al. J Hum Genet. 2021 Nov;66(11):1061-1068. doi: 10.1038/s10038-021-00932-y. Epub 2021 May 6. J Hum Genet. 2021. PMID: 33958710
Two novel heterozygous variants in ATP1A3 cause movement disorders.
Furukawa S, Miyamoto S, Fukumura S, Kubota K, Taga T, Nakashima M, Saitsu H. Furukawa S, et al. Among authors: miyamoto s. Hum Genome Var. 2022 Feb 18;9(1):7. doi: 10.1038/s41439-022-00184-y. Hum Genome Var. 2022. PMID: 35181663 Free PMC article.
3,296 results