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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Snijders Blok L, et al. Among authors: kurumizaka h. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Nat Commun. 2018. PMID: 30397230 Free PMC article.
Holliday junction-binding activity of human SPF45.
Horikoshi N, Morozumi Y, Takaku M, Takizawa Y, Kurumizaka H. Horikoshi N, et al. Among authors: kurumizaka h. Genes Cells. 2010 Apr 1;15(4):373-83. doi: 10.1111/j.1365-2443.2010.01383.x. Epub 2010 Mar 4. Genes Cells. 2010. PMID: 20236180 Free article.
Single-stranded DNA catenation mediated by human EVL and a type I topoisomerase.
Takaku M, Takahashi D, Machida S, Ueno H, Hosoya N, Ikawa S, Miyagawa K, Shibata T, Kurumizaka H. Takaku M, et al. Among authors: kurumizaka h. Nucleic Acids Res. 2010 Nov;38(21):7579-86. doi: 10.1093/nar/gkq630. Epub 2010 Jul 17. Nucleic Acids Res. 2010. PMID: 20639531 Free PMC article.
302 results