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Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.
Narita K, Muramatsu H, Narumi S, Nakamura Y, Okuno Y, Suzuki K, Hamada M, Yamaguchi N, Suzuki A, Nishio Y, Shiraki A, Yamamori A, Tsumura Y, Sawamura F, Kawaguchi M, Wakamatsu M, Kataoka S, Kato K, Asada H, Kubota T, Muramatsu Y, Kidokoro H, Natsume J, Mizuno S, Nakata T, Inagaki H, Ishihara N, Yonekawa T, Okumura A, Ogi T, Kojima S, Kaname T, Hasegawa T, Saitoh S, Takahashi Y. Narita K, et al. Among authors: okuno y. Sci Rep. 2022 Aug 26;12(1):14589. doi: 10.1038/s41598-022-14161-6. Sci Rep. 2022. PMID: 36028527 Free PMC article.
ACTN1 mutations cause congenital macrothrombocytopenia.
Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, Chiba K, Tanaka H, Miyazaki K, Sakai M, Ohtake M, Kobayashi R, Iguchi A, Niimi G, Otsu M, Takahashi Y, Miyano S, Saito H, Kojima S, Ogawa S. Kunishima S, et al. Among authors: okuno y. Am J Hum Genet. 2013 Mar 7;92(3):431-8. doi: 10.1016/j.ajhg.2013.01.015. Epub 2013 Feb 21. Am J Hum Genet. 2013. PMID: 23434115 Free PMC article.
Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.
Sakaguchi H, Okuno Y, Muramatsu H, Yoshida K, Shiraishi Y, Takahashi M, Kon A, Sanada M, Chiba K, Tanaka H, Makishima H, Wang X, Xu Y, Doisaki S, Hama A, Nakanishi K, Takahashi Y, Yoshida N, Maciejewski JP, Miyano S, Ogawa S, Kojima S. Sakaguchi H, et al. Among authors: okuno y. Nat Genet. 2013 Aug;45(8):937-41. doi: 10.1038/ng.2698. Epub 2013 Jul 7. Nat Genet. 2013. PMID: 23832011
Whole-exome sequence analysis of ataxia telangiectasia-like phenotype.
Hasegawa S, Imai K, Yoshida K, Okuno Y, Muramatsu H, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Kojima S, Ogawa S, Morio T, Mizutani S, Takagi M. Hasegawa S, et al. Among authors: okuno y. J Neurol Sci. 2014 May 15;340(1-2):86-90. doi: 10.1016/j.jns.2014.02.033. Epub 2014 Mar 4. J Neurol Sci. 2014. PMID: 24631270
A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele.
Yang X, Hoshino A, Taga T, Kunitsu T, Ikeda Y, Yasumi T, Yoshida K, Wada T, Miyake K, Kubota T, Okuno Y, Muramatsu H, Adachi Y, Miyano S, Ogawa S, Kojima S, Kanegane H. Yang X, et al. Among authors: okuno y. J Clin Immunol. 2015 Apr;35(3):244-8. doi: 10.1007/s10875-015-0144-6. Epub 2015 Mar 7. J Clin Immunol. 2015. PMID: 25744037
GATA2 and secondary mutations in familial myelodysplastic syndromes and pediatric myeloid malignancies.
Wang X, Muramatsu H, Okuno Y, Sakaguchi H, Yoshida K, Kawashima N, Xu Y, Shiraishi Y, Chiba K, Tanaka H, Saito S, Nakazawa Y, Masunari T, Hirose T, Elmahdi S, Narita A, Doisaki S, Ismael O, Makishima H, Hama A, Miyano S, Takahashi Y, Ogawa S, Kojima S. Wang X, et al. Among authors: okuno y. Haematologica. 2015 Oct;100(10):e398-401. doi: 10.3324/haematol.2015.127092. Epub 2015 May 28. Haematologica. 2015. PMID: 26022708 Free PMC article. No abstract available.
1,287 results