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TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.
Yokoi S, Ishihara N, Miya F, Tsutsumi M, Yanagihara I, Fujita N, Yamamoto H, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Kojima S, Saitoh S, Kurahashi H, Natsume J. Yokoi S, et al. Among authors: yamasaki m. Sci Rep. 2015 Oct 23;5:15165. doi: 10.1038/srep15165. Sci Rep. 2015. PMID: 26493046 Free PMC article.
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.
Hori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, Okamoto N, Kumagai T, Shimoda K, Yukitake Y, Kajikawa D, Morio T, Hattori A, Nakagawa M, Ando N, Nishino I, Kato M, Tsunoda T, Saitsu H, Kanemura Y, Yamasaki M, Kosaki K, Matsumoto N, Yoshimori T, Saitoh S. Hori I, et al. Among authors: yamasaki m. Sci Rep. 2017 Jun 14;7(1):3552. doi: 10.1038/s41598-017-02840-8. Sci Rep. 2017. PMID: 28615637 Free PMC article.
IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis.
Shigemizu D, Miya F, Akiyama S, Okuda S, Boroevich KA, Fujimoto A, Nakagawa H, Ozaki K, Niida S, Kanemura Y, Okamoto N, Saitoh S, Kato M, Yamasaki M, Matsunaga T, Mutai H, Kosaki K, Tsunoda T. Shigemizu D, et al. Among authors: yamasaki m. Sci Rep. 2018 Apr 4;8(1):5608. doi: 10.1038/s41598-018-23978-z. Sci Rep. 2018. PMID: 29618752 Free PMC article.
Publisher Correction: IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis.
Shigemizu D, Miya F, Akiyama S, Okuda S, Boroevich KA, Fujimoto A, Nakagawa H, Ozaki K, Niida S, Kanemura Y, Okamoto N, Saitoh S, Kato M, Yamasaki M, Matsunaga T, Mutai H, Kosaki K, Tsunoda T. Shigemizu D, et al. Among authors: yamasaki m. Sci Rep. 2018 Jul 4;8(1):10367. doi: 10.1038/s41598-018-28698-y. Sci Rep. 2018. PMID: 29970886 Free PMC article.
KIF1A mutation in a patient with progressive neurodegeneration.
Okamoto N, Miya F, Tsunoda T, Yanagihara K, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Okamoto N, et al. Among authors: yamasaki m. J Hum Genet. 2014 Nov;59(11):639-41. doi: 10.1038/jhg.2014.80. Epub 2014 Sep 25. J Hum Genet. 2014. PMID: 25253658
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Hori I, et al. Among authors: yamasaki m. Am J Med Genet A. 2016 Jul;170(7):1863-7. doi: 10.1002/ajmg.a.37653. Epub 2016 Apr 13. Am J Med Genet A. 2016. PMID: 27075689
2,276 results