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Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
Hamanaka K, Miyake N, Mizuguchi T, Miyatake S, Uchiyama Y, Tsuchida N, Sekiguchi F, Mitsuhashi S, Tsurusaki Y, Nakashima M, Saitsu H, Yamada K, Sakamoto M, Fukuda H, Ohori S, Saida K, Itai T, Azuma Y, Koshimizu E, Fujita A, Erturk B, Hiraki Y, Ch'ng GS, Kato M, Okamoto N, Takata A, Matsumoto N. Hamanaka K, et al. Among authors: miyatake s. Genome Med. 2022 Apr 26;14(1):40. doi: 10.1186/s13073-022-01042-w. Genome Med. 2022. PMID: 35468861 Free PMC article.
SMOC1 is essential for ocular and limb development in humans and mice.
Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H. Okada I, et al. Among authors: miyatake s. Am J Hum Genet. 2011 Jan 7;88(1):30-41. doi: 10.1016/j.ajhg.2010.11.012. Epub 2010 Dec 30. Am J Hum Genet. 2011. PMID: 21194678 Free PMC article.
A novel homozygous mutation of DARS2 may cause a severe LBSL variant.
Miyake N, Yamashita S, Kurosawa K, Miyatake S, Tsurusaki Y, Doi H, Saitsu H, Matsumoto N. Miyake N, et al. Among authors: miyatake s. Clin Genet. 2011 Sep;80(3):293-6. doi: 10.1111/j.1399-0004.2011.01644.x. Clin Genet. 2011. PMID: 21815884 No abstract available.
Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, Ikeda S, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N. Doi H, et al. Among authors: miyatake s. Am J Hum Genet. 2011 Aug 12;89(2):320-7. doi: 10.1016/j.ajhg.2011.07.012. Am J Hum Genet. 2011. PMID: 21835308 Free PMC article.
Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease.
Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, Tsurusaki Y, Doi H, Sakai H, Saitsu H, Shimojima K, Yamamoto T, Higurashi M, Kawahara N, Kawauchi H, Nagasaka K, Okamoto N, Mori T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsubara Y, Kure S, Matsumoto N. Miyatake S, et al. Neurology. 2012 Mar 13;78(11):803-10. doi: 10.1212/WNL.0b013e318249f71f. Epub 2012 Feb 29. Neurology. 2012. PMID: 22377813
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N. Tsurusaki Y, et al. Among authors: miyatake s. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219. Nat Genet. 2012. PMID: 22426308
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H. Yoneda Y, et al. Among authors: miyatake s. Ann Neurol. 2013 Jan;73(1):48-57. doi: 10.1002/ana.23736. Epub 2012 Dec 7. Ann Neurol. 2013. PMID: 23225343
563 results