Tsurusaki Y - Search Results

1

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

Enomoto Y, Yokoi T, Tsurusaki Y, Murakami H, Tominaga M, Minatogawa M, Abe-Hatano C, Kuroda Y, Ohashi I, Ida K, Shiiya S, Kumaki T, Naruto T, Mitsui J, Harada N, Kido Y, Kurosawa K. Enomoto Y, et al. Among authors: tsurusaki y. Clin Genet. 2022 Mar;101(3):335-345. doi: 10.1111/cge.14103. Epub 2022 Jan 4. Clin Genet. 2022. PMID: 34958122

2

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

3

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

4

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

5

MLL2 and KDM6A mutations in patients with Kabuki syndrome.

Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N. Miyake N, et al. Among authors: tsurusaki y. Am J Med Genet A. 2013 Sep;161A(9):2234-43. doi: 10.1002/ajmg.a.36072. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913813

6

Co-occurrence of 22q11 deletion syndrome and HDR syndrome.

Fukai R, Ochi N, Murakami A, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N. Fukai R, et al. Among authors: tsurusaki y. Am J Med Genet A. 2013 Oct;161A(10):2576-81. doi: 10.1002/ajmg.a.36083. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918631

7

Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing.

Suzuki T, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Takeda S, Matsumoto N. Suzuki T, et al. Among authors: tsurusaki y. J Hum Genet. 2014 Dec;59(12):649-54. doi: 10.1038/jhg.2014.88. Epub 2014 Oct 9. J Hum Genet. 2014. PMID: 25296578

8

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.

Nakashima M, Miyajima M, Sugano H, Iimura Y, Kato M, Tsurusaki Y, Miyake N, Saitsu H, Arai H, Matsumoto N. Nakashima M, et al. Among authors: tsurusaki y. J Hum Genet. 2014 Dec;59(12):691-3. doi: 10.1038/jhg.2014.95. Epub 2014 Nov 6. J Hum Genet. 2014. PMID: 25374402

9

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.

Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Nukui M, Araki A, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. Miyatake S, et al. Among authors: tsurusaki y. J Hum Genet. 2015 Apr;60(4):175-82. doi: 10.1038/jhg.2014.124. Epub 2015 Jan 22. J Hum Genet. 2015. PMID: 25608832

10

A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.

Fukai R, Hiraki Y, Yofune H, Tsurusaki Y, Nakashima M, Saitsu H, Tanaka F, Miyake N, Matsumoto N. Fukai R, et al. Among authors: tsurusaki y. J Hum Genet. 2015 May;60(5):277-9. doi: 10.1038/jhg.2015.13. Epub 2015 Feb 19. J Hum Genet. 2015. PMID: 25694107

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