TSURUSAKI Yoshinori

J-GLOBAL         Last updated: Apr 4, 2019 at 12:31
 
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Name
TSURUSAKI Yoshinori
Nickname
ytsurusaki
E-mail
y-tsurusakistar.sagami-wu.ac.jp
Affiliation
Sagami Women's University
Section
Faculty of Nutritional Science Department of Nutrition and Health

Research Areas

 
 

Education

 
 
   
 
Graduate School, Division of Nutritional and Environmental Scieces, University of Shizuoka
 

Published Papers

 
Doi H, Koyano S, Miyatake S, Nakajima S, Nakazawa Y, Kunii M, Tomita-Katsumoto A, Oda K, Yamaguchi Y, Fukai R, Ikeda S, Kato R, Ogata K, Kubota S, Hayashi N, Takahashi K, Tada M, Tanaka K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogi T, Aihara M, Takeuchi H, Matsumoto N, Tanaka F
Journal of human genetics      Feb 2018   [Refereed]
Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, Morikawa M, Uno Y, Ishizuka K, Nakamura K, Tsujii M, Yoshikawa T, Toyota T, Okamoto N, Hiraki Y, Hashimoto R, Yasuda Y, Saitoh S, Ohashi K, Sakai Y, Ohga S, Hara T, Kato M, Nakamura K, Ito A, Seiwa C, Shirahata E, Osaka H, Matsumoto A, Takeshita S, Tohyama J, Saikusa T, Matsuishi T, Nakamura T, Tsuboi T, Kato T, Suzuki T, Saitsu H, Nakashima M, Mizuguchi T, Tanaka F, Mori N, Ozaki N, Matsumoto N
Cell reports   22(3) 734-747   Jan 2018   [Refereed]
Kimura Y, Akahira-Azuma M, Harada N, Enomoto Y, Tsurusaki Y, Kurosawa K
Congenital anomalies      Jan 2018   [Refereed]
Enomoto Y, Tsurusaki Y, Harada N, Aida N, Kurosawa K
Congenital anomalies      Oct 2017   [Refereed]
Okamoto N, Ehara E, Tsurusaki Y, Miyake N, Matsumoto N
Congenital anomalies      Aug 2017   [Refereed]
Miyatake S, Okamoto N, Stark Z, Nabetani M, Tsurusaki Y, Nakashima M, Miyake N, Mizuguchi T, Ohtake A, Saitsu H, Matsumoto N
Journal of human genetics   62(8) 741-746   Aug 2017   [Refereed]
Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N
American journal of human genetics   100(1) 169-178   Jan 2017   [Refereed]
Tsurusaki Y, Ohashi I, Enomoto Y, Naruto T, Mitsui J, Aida N, Kurosawa K
Human genome variation   4 17019   2017   [Refereed]
Komatsu Y, Suzuki T, Tsurusaki Y, Miyake N, Matsumoto N, Yan K
CEN case reports   5(2) 137-140   Nov 2016   [Refereed]
Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N
American journal of medical genetics. Part A   170(10) 2662-2670   Oct 2016   [Refereed]
Fujita A, Isidor B, Piloquet H, Corre P, Okamoto N, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N
Journal of human genetics   61(9) 835-838   Sep 2016   [Refereed]
Matsuo M, Yamauchi A, Ito Y, Sakauchi M, Yamamoto T, Okamoto N, Tsurusaki Y, Miyake N, Matsumoto N, Saito K
Brain & development   39(2) 177-181   Sep 2016   [Refereed]
Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA
American journal of medical genetics. Part A   170(8) 1967-1973   Aug 2016   [Refereed]
Hamatani M, Jingami N, Tsurusaki Y, Shimada S, Shimojima K, Asada-Utsugi M, Yoshinaga K, Uemura N, Yamashita H, Uemura K, Takahashi R, Matsumoto N, Yamamoto T
Journal of human genetics   61(10) 902-902   Jun 2016   [Refereed]
Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, Nakayama K, Nakashima M, Mitsui J, Narahara M, Hayashi K, Funayama R, Yamaguchi D, Ishiura H, Ko WY, Hata K, Nagashima T, Yamada R, Matsubara Y, Umezawa A, Tsuji S, Matsumoto N, Matsuda F
Journal of human genetics   61(6) 547-553   Jun 2016   [Refereed]
Fukai R, Saitsu H, Tsurusaki Y, Sakai Y, Haginoya K, Takahashi K, Hubshman MW, Okamoto N, Nakashima M, Tanaka F, Miyake N, Matsumoto N
Journal of human genetics   61(5) 381-387   May 2016   [Refereed]
Saitsu H, Sonoda M, Higashijima T, Shirozu H, Masuda H, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Kameyama S, Matsumoto N
Annals of clinical and translational neurology   3(5) 356-365   May 2016   [Refereed]
Kodera H, Ohba C, Kato M, Maeda T, Araki K, Tajima D, Matsuo M, Hino-Fukuyo N, Kohashi K, Ishiyama A, Takeshita S, Motoi H, Kitamura T, Kikuchi A, Tsurusaki Y, Nakashima M, Miyake N, Sasaki M, Kure S, Haginoya K, Saitsu H, Matsumoto N
Epilepsia   57(4) 566-573   Apr 2016   [Refereed]
Hempel A, Pagnamenta AT, Blyth M, Mansour S, McConnell V, Kou I, Ikegawa S, Tsurusaki Y, Matsumoto N, Lo-Castro A, Plessis G, Albrecht B, Battaglia A, Taylor JC, Howard MF, Keays D, Sohal AS, DDD Collaboration, Kühl SJ, Kini U, McNeill A
Journal of medical genetics   53(3) 152-162   Mar 2016   [Refereed]
Hashimoto R, Nakazawa T, Tsurusaki Y, Yasuda Y, Nagayasu K, Matsumura K, Kawashima H, Yamamori H, Fujimoto M, Ohi K, Umeda-Yano S, Fukunaga M, Fujino H, Kasai A, Hayata-Takano A, Shintani N, Takeda M, Matsumoto N, Hashimoto H
Journal of human genetics   61(3) 199-206   Mar 2016   [Refereed]
Wallis M, Tsurusaki Y, Burgess T, Borzi P, Matsumoto N, Miyake N, True D, Patel C
American journal of medical genetics. Part A   170(3) 717-724   Mar 2016   [Refereed]
Imagawa E, Fattal-Valevski A, Eyal O, Miyatake S, Saada A, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N
Journal of neurology, neurosurgery, and psychiatry   87(2) 212-216   Feb 2016   [Refereed]
Yamamoto T, Yoshioka S, Tsurusaki Y, Shino S, Shimojima K, Shigematsu Y, Takeuchi Y, Matsumoto N
Brain & development   38(1) 142-144   Jan 2016   [Refereed]
Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N
European journal of human genetics : EJHG   24(1) 129-134   Jan 2016   [Refereed]
Fujita A, Ando K, Kobayashi E, Mitani K, Okudera K, Nakashima M, Miyatake S, Tsurusaki Y, Saitsu H, Seyama K, Miyake N, Matsumoto N
Human genetics   135(1) 61-68   Jan 2016   [Refereed]
Nakashima M, Kouga T, Lourenço CM, Shiina M, Goto T, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Ogata K, Osaka H, Matsumoto N
Epilepsia   57(1) e18-23   Jan 2016   [Refereed]
Ohba C, Haginoya K, Osaka H, Kubota K, Ishiyama A, Hiraide T, Komaki H, Sasaki M, Miyatake S, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N
Journal of human genetics   60(12) 739-742   Dec 2015   [Refereed]
Shimada S, Shimojima K, Sangu N, Hoshino A, Hachiya Y, Ohto T, Hashi Y, Nishida K, Mitani M, Kinjo S, Tsurusaki Y, Matsumoto N, Morimoto M, Yamamoto T
Brain & development   37(10) 960-966   Nov 2015   [Refereed]
Tsurusaki Y, Kobayashi Y, Hisano M, Ito S, Doi H, Nakashima M, Saitsu H, Matsumoto N, Miyake N
Journal of human genetics   60(10) 651   Oct 2015   [Refereed]
Tsurusaki Y, Tanaka R, Shimada S, Shimojima K, Shiina M, Nakashima M, Saitsu H, Miyake N, Ogata K, Yamamoto T, Matsumoto N
Journal of human genetics   60(10) 631-635   Oct 2015   [Refereed]
Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Imamura S, Hirose T, Okudela K, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Cheong HI, Kagami S, Yamashita M, Fujita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Ohashi K, Imamoto N, Ryo A, Ogata K, Iijima K, Matsumoto N
American journal of human genetics   97(4) 555-566   Oct 2015   [Refereed]
Saitsu H, Akita T, Tohyama J, Goldberg-Stern H, Kobayashi Y, Cohen R, Kato M, Ohba C, Miyatake S, Tsurusaki Y, Nakashima M, Miyake N, Fukuda A, Matsumoto N
Scientific reports   5 15199   Oct 2015   [Refereed]
Nakashima M, Saitsu H, Takei N, Tohyama J, Kato M, Kitaura H, Shiina M, Shirozu H, Masuda H, Watanabe K, Ohba C, Tsurusaki Y, Miyake N, Zheng Y, Sato T, Takebayashi H, Ogata K, Kameyama S, Kakita A, Matsumoto N
Annals of neurology   78(3) 375-386   Sep 2015   [Refereed]
Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, Nabatame S, Azuma J, Fujii Y, Hara M, Tsurusawa R, Inoue T, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N
Epilepsia   56(9) e121-8   Sep 2015   [Refereed]
Kubo N, Toh H, Shirane K, Shirakawa T, Kobayashi H, Sato T, Sone H, Sato Y, Tomizawa S, Tsurusaki Y, Shibata H, Saitsu H, Suzuki Y, Matsumoto N, Suyama M, Kono T, Ohbo K, Sasaki H
BMC genomics   16 624   Aug 2015   [Refereed]
Asai K, Tani S, Mineharu Y, Tsurusaki Y, Imai Y, Agawa Y, Iwaki K, Matsumoto N, Sakai N
Brain tumor pathology   32(3) 216-220   Jul 2015   [Refereed]
Takano K, Tsuyusaki Y, Sato M, Takagi M, Anzai R, Okuda M, Iai M, Yamashita S, Okabe T, Aida N, Tsurusaki Y, Saitsu H, Matsumoto N, Osaka H
Brain & development   37(6) 638-642   Jun 2015   [Refereed]
Ohba C, Shiina M, Tohyama J, Haginoya K, Lerman-Sagie T, Okamoto N, Blumkin L, Lev D, Mukaida S, Nozaki F, Uematsu M, Onuma A, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Kato M, Ogata K, Saitsu H, Matsumoto N
Epilepsia   56(6) 841-848   Jun 2015   [Refereed]
Fukai R, Hiraki Y, Yofune H, Tsurusaki Y, Nakashima M, Saitsu H, Tanaka F, Miyake N, Matsumoto N
Journal of human genetics   60(5) 277-279   May 2015   [Refereed]
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
Journal of human genetics   60(4) 175-182   Apr 2015   [Refereed]
Kunii M, Doi H, Higashiyama Y, Kugimoto C, Ueda N, Hirata J, Tomita-Katsumoto A, Kashikura-Kojima M, Kubota S, Taniguchi M, Murayama K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N, Tanaka F
Journal of human genetics   60(4) 187-191   Apr 2015   [Refereed]
Wada T, Takano K, Tsurusaki Y, Miyake N, Nakashima M, Saitsu H, Matsumoto N, Osaka H
Pediatrics international : official journal of the Japan Pediatric Society   57(2) 324-326   Apr 2015   [Refereed]
Kodera H, Osaka H, Iai M, Aida N, Yamashita A, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Matsumoto N
Journal of human genetics   60(2) 97-101   Feb 2015   [Refereed]
Liu X, Kawashima M, Miyagawa T, Otowa T, Latt KZ, Thiri M, Nishida H, Sugiyama T, Tsurusaki Y, Matsumoto N, Mabuchi A, Tokunaga K, Sasaki T
Human genome variation   2 15024   2015   [Refereed]
Imagawa E, Fukai R, Behnam M, Goyal M, Nouri N, Nakashima M, Tsurusaki Y, Saitsu H, Salehi M, Kapoor S, Tanaka F, Miyake N, Matsumoto N
Human genome variation   2 15034   2015   [Refereed]
Suzuki T, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Takeda S, Matsumoto N
Journal of human genetics   59(12) 649-654   Dec 2014   [Refereed]
Saitsu H, Yamashita S, Tanaka Y, Tsurusaki Y, Nakashima M, Miyake N, Matsumoto N
Journal of human genetics   59(12) 687-690   Dec 2014   [Refereed]
Nakashima M, Miyajima M, Sugano H, Iimura Y, Kato M, Tsurusaki Y, Miyake N, Saitsu H, Arai H, Matsumoto N
Journal of human genetics   59(12) 691-693   Dec 2014   [Refereed]
Doi H, Ushiyama M, Baba T, Tani K, Shiina M, Ogata K, Miyatake S, Fukuda-Yuzawa Y, Tsuji S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ikeda S, Tanaka F, Matsumoto N, Yoshida K
Scientific reports   4 7132   Nov 2014   [Refereed]
Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto Y, Nishino I, Ohtake A, King MC, Matsumoto N
Journal of human genetics   59(10) 581-583   Oct 2014   [Refereed]
Yoshida K, Miyatake S, Kinoshita T, Doi H, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
Journal of human genetics   59(10) 589-590   Oct 2014   [Refereed]
Imagawa E, Kayserili H, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Ikegawa S, Matsumoto N, Miyake N
American journal of medical genetics. Part A   164A(9) 2398-2402   Sep 2014   [Refereed]
Miyake N, Tsurusaki Y, Matsumoto N
American journal of medical genetics. Part C, Seminars in medical genetics   166C(3) 257-261   Sep 2014   [Refereed]
Nakashima M, Kashii H, Murakami Y, Kato M, Tsurusaki Y, Miyake N, Kubota M, Kinoshita T, Saitsu H, Matsumoto N
Neurogenetics   15(3) 193-200   Aug 2014   [Refereed]
Nakashima M, Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
Journal of human genetics   59(8) 471-474   Aug 2014   [Refereed]
Miyatake S, Koshimizu E, Hayashi YK, Miya K, Shiina M, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogata K, Nishino I, Matsumoto N
Neuromuscular disorders : NMD   24(7) 642-647   Jul 2014   [Refereed]
Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H
Epilepsia   55(7) 994-1000   Jul 2014   [Refereed]
Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T, Morimoto M, Ando N, Ikuta Y, Nakashima M, Tsurusaki Y, Miyake N, Ogata K, Matsumoto N, Saitsu H
Neurology   82(24) 2230-2237   Jun 2014   [Refereed]
Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N
Nature communications   5 4011   Jun 2014   [Refereed]
Ohba C, Okamoto N, Murakami Y, Suzuki Y, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Kinoshita T, Matsumoto N, Saitsu H
Neurogenetics   15(2) 85-92   May 2014   [Refereed]
Ohba C, Nabatame S, Iijima Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Ozono K, Saitsu H, Matsumoto N
Journal of human genetics   59(5) 292-295   May 2014   [Refereed]
Kato M, Saitsu H, Murakami Y, Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N
Neurology   82(18) 1587-1596   May 2014   [Refereed]
Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusaki Y, Saitsu H, Kawashima H, Matsumoto N, Miyake N
Journal of human genetics   59(4) 229-232   Apr 2014   [Refereed]
Fukai R, Hiraki Y, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N
American journal of medical genetics. Part A   164A(4) 1021-1028   Apr 2014   [Refereed]
Fujita A, Ochi N, Fujimaki H, Muramatsu H, Takahashi Y, Natsume J, Kojima S, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N
American journal of medical genetics. Part A   164A(4) 998-1002   Apr 2014   [Refereed]
Nakamura K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H, Jinnou H, Ohki S, Yokochi K, Okanishi T, Enoki H
Brain & development   36(3) 272-273   Mar 2014   [Refereed]
Imagawa E, Osaka H, Yamashita A, Shiina M, Takahashi E, Sugie H, Nakashima M, Tsurusaki Y, Saitsu H, Ogata K, Matsumoto N, Miyake N
Human genetics   133(2) 225-234   Feb 2014   [Refereed]
Nakamura K, Osaka H, Murakami Y, Anzai R, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Kinoshita T, Matsumoto N, Saitsu H
Epilepsia   55(2) e13-7   Feb 2014   [Refereed]
Hiraki Y, Miyatake S, Hayashidani M, Nishimura Y, Matsuura H, Kamada M, Kawagoe T, Yunoki K, Okamoto N, Yofune H, Nakashima M, Tsurusaki Y, Satisu H, Murakami A, Miyake N, Nishimura G, Matsumoto N
American journal of medical genetics. Part A   164A(1) 231-236   Jan 2014   [Refereed]
Kimura M, Tokita Y, Machida J, Shibata A, Tatematsu T, Tsurusaki Y, Miyake N, Saitsu H, Miyachi H, Shimozato K, Matsumoto N, Nakashima M
Human genome variation   1 14005   2014   [Refereed]
Yasuda Y, Hashimoto R, Fukai R, Okamoto N, Hiraki Y, Yamamori H, Fujimoto M, Ohi K, Taniike M, Mohri I, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N, Takeda M
Annals of general psychiatry   13 22   2014   [Refereed]
Nakajima J, Okamoto N, Shiraishi J, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Kawashima H, Matsumoto N, Miyake N
Journal of human genetics   58(12) 822-824   Dec 2013   [Refereed]
Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H
Human mutation   34(12) 1708-1714   Dec 2013   [Refereed]
Ohba C, Osaka H, Iai M, Yamashita S, Suzuki Y, Aida N, Shimozawa N, Takamura A, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Eto Y, Tanaka F, Matsumoto N, Saitsu H
Neurogenetics   14(3-4) 225-232   Nov 2013   [Refereed]
Fukai R, Ochi N, Murakami A, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N
American journal of medical genetics. Part A   161A(10) 2576-2581   Oct 2013   [Refereed]
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
American journal of medical genetics. Part A   161A(9) 2234-2243   Sep 2013   [Refereed]
Nakamura K, Kato M, Osaka H, Yamashita S, Nakagawa E, Haginoya K, Tohyama J, Okuda M, Wada T, Shimakawa S, Imai K, Takeshita S, Ishiwata H, Lev D, Lerman-Sagie T, Cervantes-Barragán DE, Villarroel CE, Ohfu M, Writzl K, Gnidovec Strazisar B, Hirabayashi S, Chitayat D, Myles Reid D, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Matsumoto N, Saitsu H
Neurology   81(11) 992-998   Sep 2013   [Refereed]
Nakamura K, Kodera H, Akita T, Shiina M, Kato M, Hoshino H, Terashima H, Osaka H, Nakamura S, Tohyama J, Kumada T, Furukawa T, Iwata S, Shiihara T, Kubota M, Miyatake S, Koshimizu E, Nishiyama K, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Ogata K, Fukuda A, Matsumoto N, Saitsu H
American journal of human genetics   93(3) 496-505   Sep 2013   [Refereed]
Fujita A, Suzumura H, Nakashima M, Tsurusaki Y, Saitsu H, Harada N, Matsumoto N, Miyake N
American journal of medical genetics. Part A   161A(8) 1904-1909   Aug 2013   [Refereed]
Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weiss S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Saito K, Hayasaka K, Matsumoto N, Saitsu H
Epilepsia   54(7) 1282-1287   Jul 2013   [Refereed]
Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nonoda Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King MC, Matsumoto N, Saitsu H
Epilepsia   54(7) 1262-1269   Jul 2013   [Refereed]
Kondo Y, Koshimizu E, Megarbane A, Hamanoue H, Okada I, Nishiyama K, Kodera H, Miyatake S, Tsurusaki Y, Nakashima M, Doi H, Miyake N, Saitsu H, Matsumoto N
American journal of medical genetics. Part A   161A(7) 1543-1546   Jul 2013   [Refereed]
Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG
American journal of human genetics   93(1) 6-18   Jul 2013   [Refereed]
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
Journal of human genetics   58(6) 391-394   Jun 2013   [Refereed]
Kosho T, Okamoto N, Ohashi H, Tsurusaki Y, Imai Y, Hibi-Ko Y, Kawame H, Homma T, Tanabe S, Kato M, Hiraki Y, Yamagata T, Yano S, Sakazume S, Ishii T, Nagai T, Ohta T, Niikawa N, Mizuno S, Kaname T, Naritomi K, Narumi Y, Wakui K, Fukushima Y, Miyatake S, Mizuguchi T, Saitsu H, Miyake N, Matsumoto N
American journal of medical genetics. Part A   161A(6) 1221-1237   Jun 2013   [Refereed]
Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S
American journal of human genetics   92(6) 927-934   Jun 2013   [Refereed]
Higashiyama Y, Doi H, Wakabayashi M, Tsurusaki Y, Miyake N, Saitsu H, Ohba C, Fukai R, Miyatake S, Joki H, Koyano S, Suzuki Y, Tanaka F, Kuroiwa Y, Matsumoto N
Movement disorders : official journal of the Movement Disorder Society   28(4) 552-553   Apr 2013   [Refereed]
Saitsu H, Nishimura T, Muramatsu K, Kodera H, Kumada S, Sugai K, Kasai-Yoshida E, Sawaura N, Nishida H, Hoshino A, Ryujin F, Yoshioka S, Nishiyama K, Kondo Y, Tsurusaki Y, Nakashima M, Miyake N, Arakawa H, Kato M, Mizushima N, Matsumoto N
Nature genetics   45(4) 445-9, 449e1   Apr 2013   [Refereed]
Miyake N, Yano S, Sakai C, Hatakeyama H, Matsushima Y, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Ogata K, Goto Y, Matsumoto N
Human mutation   34(3) 446-452   Mar 2013   [Refereed]
Tsurusaki Y, Kobayashi Y, Hisano M, Ito S, Doi H, Nakashima M, Saitsu H, Matsumoto N, Miyake N
Journal of human genetics   58(2) 113-115   Feb 2013   [Refereed]
Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, Tsurusaki Y, Nakashima M, Saitsu H, Niikawa N, Matsumoto N
Human mutation   34(1) 108-110   Jan 2013   [Refereed]
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
Annals of neurology   73(1) 48-57   Jan 2013   [Refereed]
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
Molecular vision   19 384-389   2013   [Refereed]
Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F, Matsumoto N
Internal medicine (Tokyo, Japan)   52(14) 1629-1633   2013   [Refereed]
Koshimizu E, Miyatake S, Okamoto N, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
PloS one   8(9) e74167   2013   [Refereed]
Tsurusaki Y, Saitoh S, Tomizawa K, Sudo A, Asahina N, Shiraishi H, Ito J, Tanaka H, Doi H, Saitsu H, Miyake N, Matsumoto N
Neurogenetics   13(4) 327-332   Nov 2012   [Refereed]
Saitsu H, Kato M, Osaka H, Moriyama N, Horita H, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N
Epilepsia   53(8) 1441-1449   Aug 2012   [Refereed]
Saitsu H, Kato M, Koide A, Goto T, Fujita T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N
Annals of neurology   72(2) 298-300   Aug 2012   [Refereed]
Saitsu H, Osaka H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Matsumoto N
Brain & development   34(5) 364-367   May 2012   [Refereed]
Sakai H, Suzuki S, Mizuguchi T, Imoto K, Yamashita Y, Doi H, Kikuchi M, Tsurusaki Y, Saitsu H, Miyake N, Masuda M, Matsumoto N
Human genetics   131(4) 591-599   Apr 2012   [Refereed]

Misc

 
次世代シークエンサーを用いた遺伝性難治疾患の責任遺伝子の同定および病態解明
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2005年以降、次世代シークエンサー(Next Generation Sequencer、NGS)が順次市場に登場し、主にメンデル遺伝性疾患(単一遺伝子疾患)の責任遺伝子が次々と同定されている。特に、NGSを利用した全エクソーム解析(Whole Exome Sequencing、WES)により、様々なメンデル遺伝性疾患の解明が、その周辺技術の開発とも相まって、現在も精力的に行われている。本総説では、筆者が携わった遺伝性難治疾患のうち、原因不明なメンデル遺伝性疾患のWESを用いた責任遺伝子の...
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山田 紘子, 高橋 一雅, 鳴海 宏子, 鶴崎 美徳, 松本 直通, 青木 宜治
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