Tsurusaki Y - Search Results

1

CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.

Enomoto Y, Tsurusaki Y, Yokoi T, Abe-Hatano C, Ida K, Naruto T, Mitsui J, Tsuji S, Morishita S, Kurosawa K. Enomoto Y, et al. Among authors: tsurusaki y. Eur J Med Genet. 2020 Jan;63(1):103610. doi: 10.1016/j.ejmg.2018.12.015. Epub 2018 Dec 30. Eur J Med Genet. 2020. PMID: 30602132

2

De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis.

Tadaki H, Saitsu H, Nishimura-Tadaki A, Imagawa T, Kikuchi M, Hara R, Kaneko U, Kishi T, Miyamae T, Miyake N, Doi H, Tsurusaki Y, Sakai H, Yokota S, Matsumoto N. Tadaki H, et al. Among authors: tsurusaki y. J Hum Genet. 2011 May;56(5):343-7. doi: 10.1038/jhg.2011.16. Epub 2011 Feb 17. J Hum Genet. 2011. PMID: 21326309

3

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing.

Tsurusaki Y, Osaka H, Hamanoue H, Shimbo H, Tsuji M, Doi H, Saitsu H, Matsumoto N, Miyake N. Tsurusaki Y, et al. J Med Genet. 2011 Sep;48(9):606-9. doi: 10.1136/jmg.2010.083535. Epub 2011 Mar 17. J Med Genet. 2011. PMID: 21415082

4

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: tsurusaki y. 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.

5

Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2).

Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N. Saitsu H, et al. Among authors: tsurusaki y. Am J Med Genet A. 2012 Jan;158A(1):199-205. doi: 10.1002/ajmg.a.34363. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22106086

6

A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.

Kondo Y, Saitsu H, Miyamoto T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ryoo NK, Kim JH, Yu YS, Matsumoto N. Kondo Y, et al. Among authors: tsurusaki y. J Hum Genet. 2012 Mar;57(3):197-201. doi: 10.1038/jhg.2012.4. Epub 2012 Feb 2. J Hum Genet. 2012. PMID: 22301464

7

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. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219. Nat Genet. 2012. PMID: 22426308

8

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

Tsurusaki Y, Kobayashi Y, Hisano M, Ito S, Doi H, Nakashima M, Saitsu H, Matsumoto N, Miyake N. Tsurusaki Y, et al. J Hum Genet. 2013 Feb;58(2):113-5. doi: 10.1038/jhg.2012.117. Epub 2012 Oct 4. J Hum Genet. 2013. PMID: 23034536

9

Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.

Kondo Y, Saitsu H, Miyamoto T, Lee BJ, Nishiyama K, Nakashima M, Tsurusaki Y, Doi H, Miyake N, Kim JH, Yu YS, Matsumoto N. Kondo Y, et al. Among authors: tsurusaki y. Mol Vis. 2013;19:384-9. Epub 2013 Feb 18. Mol Vis. 2013. PMID: 23441109 Free PMC article.

10

Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.

Iida A, Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N, Ikegawa S. Iida A, et al. Among authors: tsurusaki y. J Hum Genet. 2013 Jun;58(6):391-4. doi: 10.1038/jhg.2013.25. Epub 2013 Apr 4. J Hum Genet. 2013. PMID: 23552673

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