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Correction: The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.
Inoue T, Takase R, Uchida K, Kodo K, Suda K, Watanabe Y, Yoshiura KI, Kunimatsu M, Ishizaki R, Azuma K, Inai K, Muneuchi J, Furutani Y, Akagawa H, Yamagishi H. Inoue T, et al. Among authors: watanabe y. J Hum Genet. 2024 May;69(5):223. doi: 10.1038/s10038-024-01238-5. J Hum Genet. 2024. PMID: 38459226 No abstract available.
The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.
Inoue T, Takase R, Uchida K, Kodo K, Suda K, Watanabe Y, Yoshiura KI, Kunimatsu M, Ishizaki R, Azuma K, Inai K, Muneuchi J, Furutani Y, Akagawa H, Yamagishi H. Inoue T, et al. Among authors: watanabe y. J Hum Genet. 2024 May;69(5):215-222. doi: 10.1038/s10038-024-01225-w. Epub 2024 Feb 26. J Hum Genet. 2024. PMID: 38409496 Free PMC article.
Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.
Higashimoto K, Maeda T, Okada J, Ohtsuka Y, Sasaki K, Hirose A, Nomiyama M, Takayanagi T, Fukuzawa R, Yatsuki H, Koide K, Nishioka K, Joh K, Watanabe Y, Yoshiura K, Soejima H. Higashimoto K, et al. Among authors: watanabe y. Eur J Hum Genet. 2013 Nov;21(11):1316-9. doi: 10.1038/ejhg.2013.45. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486540 Free PMC article.
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.
Uematsu M, Sakamoto O, Sugawara N, Kumagai N, Morimoto T, Yamaguchi S, Hasegawa Y, Kobayashi H, Ihara K, Yoshino M, Watanabe Y, Inokuchi T, Yokoyama T, Kiwaki K, Nakamura K, Endo F, Tsuchiya S, Ohura T. Uematsu M, et al. Among authors: watanabe y. J Hum Genet. 2007;52(12):1040-1043. doi: 10.1007/s10038-007-0211-9. Epub 2007 Oct 30. J Hum Genet. 2007. PMID: 17968484
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
Komatsuzaki S, Aoki Y, Niihori T, Okamoto N, Hennekam RC, Hopman S, Ohashi H, Mizuno S, Watanabe Y, Kamasaki H, Kondo I, Moriyama N, Kurosawa K, Kawame H, Okuyama R, Imaizumi M, Rikiishi T, Tsuchiya S, Kure S, Matsubara Y. Komatsuzaki S, et al. Among authors: watanabe y. J Hum Genet. 2010 Dec;55(12):801-9. doi: 10.1038/jhg.2010.116. Epub 2010 Sep 30. J Hum Genet. 2010. PMID: 20882035
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