Miyamoto S - Search Results

1

RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing.

Kawakami R, Hiraide T, Watanabe K, Miyamoto S, Hira K, Komatsu K, Ishigaki H, Sakaguchi K, Maekawa M, Yamashita K, Fukuda T, Miyairi I, Ogata T, Saitsu H. Kawakami R, et al. Among authors: miyamoto s. J Hum Genet. 2024 Feb;69(2):91-99. doi: 10.1038/s10038-023-01211-8. Epub 2023 Dec 15. J Hum Genet. 2024. PMID: 38102195

2

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination.

Miyamoto S, Nakashima M, Ohashi T, Hiraide T, Kurosawa K, Yamamoto T, Takanashi J, Osaka H, Inoue K, Miyazaki T, Wada Y, Okamoto N, Saitsu H. Miyamoto S, et al. Mol Genet Genomic Med. 2019 Aug;7(8):e814. doi: 10.1002/mgg3.814. Epub 2019 Jun 23. Mol Genet Genomic Med. 2019. PMID: 31231989 Free PMC article.

3

Nanopore sequencing reveals a structural alteration of mirror-image duplicated genes in a genome-editing mouse line.

Miyamoto S, Aoto K, Hiraide T, Nakashima M, Takabayashi S, Saitsu H. Miyamoto S, et al. Congenit Anom (Kyoto). 2020 Jul;60(4):120-125. doi: 10.1111/cga.12364. Epub 2019 Dec 25. Congenit Anom (Kyoto). 2020. PMID: 31837184

4

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.

5

Negishi Y, Aoki Y, Itomi K, Yasuda K, Taniguchi H, Ishida A, Arakawa T, Miyamoto S, Nakashima M, Saitsu H, Saitoh S. Negishi Y, et al. Among authors: miyamoto s. Brain Dev. 2021 Aug;43(7):804-808. doi: 10.1016/j.braindev.2021.03.004. Epub 2021 Apr 4. Brain Dev. 2021. PMID: 33827760

6

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

7

A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies.

Miyamoto S, Kato M, Sugiyama K, Horiguchi R, Nakashima M, Aoto K, Mutoh H, Saitsu H. Miyamoto S, et al. J Hum Genet. 2021 Dec;66(12):1189-1192. doi: 10.1038/s10038-021-00953-7. Epub 2021 Jun 25. J Hum Genet. 2021. PMID: 34168248

8

Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review.

Yamamoto A, Fukumura S, Habata Y, Miyamoto S, Nakashima M, Takashima S, Kawasaki Y, Shimozawa N, Saitsu H. Yamamoto A, et al. Among authors: miyamoto s. Child Neurol Open. 2021 Oct 11;8:2329048X211048613. doi: 10.1177/2329048X211048613. eCollection 2021 Jan-Dec. Child Neurol Open. 2021. PMID: 34660840 Free PMC article.

9

Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing.

Hiraide T, Shimizu K, Miyamoto S, Aoto K, Nakashima M, Yamaguchi T, Kosho T, Ogata T, Saitsu H. Hiraide T, et al. Among authors: miyamoto s. J Hum Genet. 2022 Jul;67(7):387-392. doi: 10.1038/s10038-022-01016-1. Epub 2022 Jan 24. J Hum Genet. 2022. PMID: 35067677

10

An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation.

Miyamoto S, Nakashima M, Fukumura S, Kumada S, Saitsu H. Miyamoto S, et al. Neurogenetics. 2022 Apr;23(2):129-135. doi: 10.1007/s10048-022-00686-5. Epub 2022 Feb 11. Neurogenetics. 2022. PMID: 35147852

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