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タイトル
著者
掲載誌
巻・号・ページ
-
2023/1
Wada MK, Fukuhara Y, Hayakawa I, Kaname T, Ishiguro A
Pediatr Int
65・1
-
2023/2
Okano S, Makita Y, Miyamoto A, Taketazu G, Kimura K, Fukuda I, Tanaka H, Yanagi K, Kaname T
Hum Genome Var
10・1・4
-
2023/2
Hitomi Y and Nakamura M
Genes (Basel)
14・2・405
-
2023/5
Nakahara Y, Mitsui J, Date H, Porto KJ, Hayashi Y, Yamashita A, Kusakabe Y, Matsukawa T, Ishiura H, Yasuda T, Iwata A, Goto J, Ichikawa Y, Momose Y, Takahashi Y, Toda T, Ohta R, Yoshimura J, Morishita S, Gustavsson EK, Christy D, Maczis M, Farrer MJ, Kim HJ, Park SS, Jeon B, Zhang J, Gu W, Scholz SW, Singleton AB, Houlden H, Yabe I, Sasaki H, Matsushima M, Takashima H, Kikuchi A, Aoki M, Hara K, Kakita A, Yamada M, Takahashi H, Onodera O, Nishizawa M, Watanabe H, Ito M, Sobue G, Ishikawa K, Mizusawa H, Kanai K, Kuwabara S, Arai K, Koyano S, Kuroiwa Y, Hasegawa K, Yuasa T, Yasui K, Nakashima K, Ito H, Izumi Y, Kaji R, Kato T, Kusunoki S, Osaki Y, Horiuchi M, Yamamoto K, Shimada M, Miyagawa T, Kawai Y, Nishida N, Tokunaga K, Dürr A, Brice A, Filla A, Klockgether T, Wüllner U, Tanner CM, Kukull WA, Lee VM, Masliah E, Low PA, Sandroni P, Ozelius L, Foroud T, Tsuji S
medRxiv
-
2023/5
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari
Brain
46・5・2003-2015
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2023/5
Takeuchi I, Yanagi K, Takada S, Uchiyama T, Igarashi A, Motomura K, Hayashi Y, Nagano N, Matsuoka R, Sugiyama H, Yoshioka T, Saito H, Kawai T, Miyaji Y, Inuzuka Y, Matsubara Y, Ohya Y, Shimizu T, Matsumoto K, Arai K, Nomura I, Kaname T, Morita H
J Allergy Clin Immunol
151・5・1402-1409
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2023/5
Tanabe Y, Nomura N, Minami M, Takaya J, Okamoto N, Yanagi K, Kaname T, Fujii Y, Kaneko K
Clin Pediatr Endocrinol
32・3・195-198
-
2023/5
Khor S, Ueno K, Nishida N, Kawashima M, Kawai Y, Aiba Y, Hitomi Y, Nagasaki M, Nakamura M, Tokunaga K
Front Immunol
-
2023/6
Yanagi K, Coker J, Miyana K, Aso S, Kobayashi N, Satou K, Richman A, Indupuru S, Matsubara Y, Kaname T
J Hum Genet
68・6・431-435
-
2023/6
Imanishi R, Nakau K, Shimada S, Oka H, Takeguchi R, Tanaka R, Sugiyama T, Nii M, Okamoto T, Nagaya K, Makita Y, Yanagi K, Kaname T, Takahashi S
Hum Genome Var
10・1・17
-
2023/7
Kakumoto T, Matsukawa T, Ishiura H, Mori H, Tsuji S, Toda T
Ann Clin Transl Neurol
10・7・1230-1238
-
2023/8
Orimo K, Kakumoto T, Hara R, Goto R, Ishiura H, Mitsui J, Yoshida C, Uesaka Y, Suzuki Y, Morishita S, Satake W, Tsuji S, Toda T
J Neurol Sci
451
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2023/8
Mitsutake A, Matsukawa T, Iwata A, Ishiura H, Mitsui J, Mori H, Toya T, Honda A, Kurokawa M, Sakai N, Tsuji S, Toda T
Brain Dev
45・7・408-412
-
2023/8
Haga S, Takeguchi R, Tanaka R, Satake A, Makita Y, Yanagi K, Kaname T, Takahashi S
Brain Dev
45・7・390-394
-
2023/9
Kawamoto N, Hamada Y, Kobayashi S, Naruse H, Ishiura H, Matsukawa T, Mitsui J, Tsuji S, Sonoo M, Toda T
J Peripher Nerv Syst
28・3・513-517
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2023/10
Takegami N, Mitsutake A, Mano T, Shintani-Domoto Y, Unuma A, Yamaguchi-Takegami N, Ishiura H, Sakuishi K, Ando M, Yamauchi H, Ono M, Morishita S, Mitsui J, Shimizu J, Tsuji S, Toda T
Intern Med
62・19・2883-2887
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2023/10
Aoki E, Manabe N, Ohno S, Aoki T, Furukawa J, Togayachi A, Aoki-kinoshita K, Inokuchi J, Kurosawa K, Kaname T, Yamaguchi Y, Nishihara S
Mol Genet Metab Rep
37
-
2023/10
自己免疫性肝疾患 ~病因、診断、治療 ~ 各論1 ゲノムの関与
中村 稔
月刊「Precision Medicine」臨時増刊号
-
2023/11
Shimoda F, Naito T, Kakuta Y, Kawai Y, Tokunaga K; NCBN Controls WGS Consortium (Kaname T); Shimoyama Y, Moroi R, Shiga H, Nagasaki M, Kinouchi Y, Masamune A
Pharmacogenomics J
23・6・141-148
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2023/12
Hama Y, Date H, Fujimoto A, Matsui A, Ishiura H, Mitsui J, Yamamoto T, Tsuji S, Mizusawa H, Takahashi Y
Cerebellum
22・6・1308-1311
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2023/12
Kawai Y, Watanabe Y, Omae Y, Miyahara R, Khor S-S, Noiri E, Kitajima K, Shimanuki H, Gatanaga H, Hata K, Hattori K, Iida A, Ishibashi-Ueda H, Kaname T, Kanto T, Matsumura R, Miyo K, Noguchi M, Ozaki K, Sugiyama M, Takahashi A, Tokuda H, Tomita T, Umezawa A, Watanabe H, Yoshida S, Goto Y-i, Maruoka Y, Matsubara Y, Niida S, Mizokami M, Tokunaga K
PLOS Genet
19・12
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2024/1
Ochiai K*, Murofushi Y, Sano K, Murakami Y, Matsumoto N, Takanashi JI
Pediatr Int
66・1
-
2024/1
Hitomi Y, Ueno K, Aiba Y, Nishida N, Kawai Y, Kawashima M, Khor S , Takada S, Iwabuchi C, Nagasaki M, Tokunaga K, Nakamura M
Hum Genet
143・1・19-33
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2024/1
Hijikata A, Suyama M, Kikugawa S, Matoba R, Naruto T, Enomoto Y, Kurosawa K, Harada N, Yanagi K, Kaname T, Miyako K, Takazawa M, Sasai H, Hosokawa J, Itoga S, Yamaguchi T, Kosho T, Matsubara K, Kuroki Y, Fukami M, Adachi K, Nanba E, Tsuchida N, Uchiyama Y, Matsumoto N, Nishimura K, Ohara O.
Nucleic Acids Research
52・1・114-124
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2024/1
Tokunaga S, Shimomura H, Taniguchi N, Yanagi K, Kaname T, Okamoto N, Takeshima Y.
Human Genome Hum Genome Varariation
11・1
-
2024/2
Matsukawa T, Porto KJL, Mitsui J, Chikada A, Ishiura H, Takahashi Y, Nakamoto FK, Seki T, Shiio Y, Toda T, Tsuji S
Cerebellum
23・1・22-30
-
2024/2
Nishi E, Yanagi K, Kaname T, Okamoto N.
Molecular Genetics & Genomic Medicine
12・2
-
2024/2
Nakamura W, Hirata M, Oda S, Chiba K, Okada A, Mateos RN, Sugawa M, Iida N, Ushiama M, Tanabe N, Sakamoto H, Sekine S, Hirasawa A, Kawai Y, Tokunaga K; NCBN Controls WGS Consortium (Kaname T); Tsujimoto S-I, Shiba N, Ito S, Yoshida T, Shiraishi Y
NPJ Genomic Medicine
9・1
-
2024/2
STAT6 Gain-of-Function International Consortium (Yanagi K, Kaname T).
Trends in Immunology
45・2・138-153
-
2024/2
マルチオミクスによる心機能の統合的理解と治療戦略
野村征太郎
日本内科学会雑誌
113・Suppl・102b-103a
-
2024/3
Yamaguchi-Takegami N, Takahashi A, Mitsui J, Sugiyama Y, Chikada A, Porto KJL, Takegami N, Sakuishi K, Ishiura H, Yamada K, Shimizu J, Tsuji S, Toda T
Intern Med
63・6・861-865
-
2024/3
El Sherif R, Saito Y, Awaya T, Noguchi S, Nishino I
Neurol Genet
10・2
-
2024/3
Akiko Suga,Kei Mizobuchi,Taiga Inooka, Kazutoshi Yoshitake,Naoko Minematsu,Kazushige Tsunoda, Kazuki Kuniyoshi,Yosuke Kawai,Yosuke Omae,Katsushi Tokunaga
Genet Med Open
2
-
2024/3
循環器領域へのAIの応用,総合検診【総合検診とAI】
田村雄一
51・2・229-235
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2024/3
Elbadry MI, Tawfeek A, Hirano T, El-Mokhtar MA, Kenawey M, Helmy AM, Ogawa S, Mughal MZ, Nannya Y.
Br J Haematol
204・3・1086-1095
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2024/3
Yamashita M, Tomoda T, Mizuo A, Isoda T, Egawa M, Yoshida M, Toki T, Kudo K, Terui K, Ito E, Morio T, Takagi M.
Pediatr Blood Cancer
71・3
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2024/4
Naruse H, Ishiura H, Esaki K, Mitsui J, Satake W, Greimel P, Shingai N, Machino Y, Kokubo Y, Hamaguchi H, Oda T, Ikkaku T, Yokota I, Takahashi Y, Suzuki Y, Matsukawa T, Goto J, Koh K, Takiyama Y, Morishita S, Yoshikawa T, Tsuji S, Toda T
Ann Clin Transl Neurol
11・4・946-957
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2024/4
Okumura G, Nakamura K*, Seyama R, Uchiyama Y, Shinagawa J, Nishio S, Ikeda J, Takayama S, Kodaira M, Kosho T, Takumi Y, Matsumoto N, Sekijima Y
Intern Med
63・7・1005-1008
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2024/4
Koshimizu E, Kato M, Misawa K, Uchiyama Y, Tsuchida N, Hamanaka K, Fujita A, Mizuguchi T, Miyatake S*, Matsumoto N* (*: co-correspondence)
J Hum Genet
69・3-4・153-157
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2024/4
Inoue Y, Tsuchida N, Kim CA, de Oliveira Stephan B, Castro MAA, Honjo RS, Bertola DR, Uchiyama Y, Hamanaka K, Fujita A, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Matsumoto N*
J Hum Genet
69・3-4・163-167
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2024/4
Tamura Y, Kumamaru H, Tsujino I, Suda R, Abe K, Inami T, Horimoto K, Adachi S, Yasuda S, Sera F, Taniguchi Y, Kuwana M, Tatsumi K; Japan Pulmonary Hypertension Registry Network
Pharmaceuticals (Basel)
17・5・555
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2024/4
【肺高血圧症治療~今どこに進んでいるのか~】識る 診断基準の変更でPH診療はどう変わるのか?2022年ESC/ERSガイドライン改訂におけるPH新基準を踏まえて
田村雄一
Heart View(1342-6591)
28・4・321-325
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2024/4
Takegami N, Matsukawa T, Hamada M, Tanifuji S, Tamura T, Yamaguchi-Takegami N, Ishiura H, Mitsui J, Sakuishi K, Tsuji S, Toda T.
Internal Medicine
63・7・999-1004
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2024/4
Tanaka T, Kudo K, Kanezaki R, Yuzawa K, Toki T, Okuse R, Kobayashi A, Sato T, Kamio T, Terui K, Ito E.
Experimental Hematology
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2024/4
Isa K, Suzuki T, Nomura S, Miyoshi T, Fujita K, Kubo T, Yoneoka D, Mizuno A.
Circ Rep
6・5・178-182
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2024/4
Wu Y, Qian Q, Liu Q, Wang R, Pu X, Li Y, Zhang H, You Z, Miao Q, Xiao X, Lian M, Wang Q, Nakamura M, Gershwin ME, Li Z, Ma X, Tang R.
Clin Rev Allergy Immunol
66・2・138-148
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2024/5
Hamatani T, Atsuta N, Sano F, Nakamura R, Hayashi Y, Sobue G
Amyotroph Lateral Scler Frontotemporal Degener
25・3-4・388-389
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2024/5
Higashimoto K, Sun F, Imagawa E, Saida K, Miyake N, Hara S, Yatsuki H, Kubiura-Ichimaru M, Fujita A, Mizuguchi T, Matsumoto N, Soejima H*
J Med Genet
61・6・590-594
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2024/5
Kelmann SV, Stephan BO*, Barbosa SMM, Polastrini RTV, Oliveira ZNP, Rivitti-Machado MC, Spolador GM, Honjo RS, Saida K, Matsumoto N, Kim CA
An Bras Dermatol
99・3・350-356
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2024/5
Ohashi T, Kunimoto H*, Nukui J, Teshigawara H, Koyama S, Miyazaki T, Hagihara M, Matsumoto K, Koshimizu E, Tsuchida N, Hamanoue H, Miyatake S, Yachie A, Matsumoto N, Nakajima H
Int J Hematol
119・5・603-607
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2024/5
Arai Y, Okanishi T*, Okazaki T, Awano H, Seyama R, Uchiyama Y, Matsumoto N, Tamasaki A, Maegaki Y
BMC Pediatr
24・1・308
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2024/5
Namiki Nagata, Hiroshi Kurosaka, Kotaro Higashi, Masaya Yamaguchi, Sayuri Yamamoto, Toshihiro Inubushi, Miho Nagata, Yasuki Ishihara, Ayumi Yonei, Yohei Miyashita, Yoshihiro Asano, Norio Sakai, Yasushi Sakata, Shigetada Kawabata, Takashi Yamashiro
Human Genome Variation
11・1
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2024/5
Iida T, Igarashi A, Fukunaga K, Aoki T, Hidai T, Yanagi K, Yamamori M, Satou K, Go H, Kosho T, Maki R, Suzuki T, Nitta Y, Sugie A, Asaoka Y, Furutani-Seiki M, Kimura T, Matsubara Y, Kaname T.
Front Genet
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2024/5
Inoue M, Sebastian WA, Sonoda S, Miyahara H, Shimizu N, Shiraishi H, Maeda M, Yanagi K, Kaname T, Hanada R, Hanada T, Ihara K.
Orphanet Journal of Rare Diseases
19・1
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2024/5
Wlodarski MW, Vlachos A, Farrar JE, Da Costa LM, Kattamis A, Dianzani I, Belendez C, Unal S, Tamary H, Pasauliene R, Pospisilova D, de la Fuente J, Iskander D, Wolfe L, Liu JM, Shimamura A, Albrecht K, Lausen B, Bechensteen AG, Tedgard U, Puzik A, Quarello P, Ramenghi U, Bartels M, Hengartner H, Farah RA, Al Saleh M, Hamidieh AA, Yang W, Ito E, Kook H, Ovsyannikova G, Kager L, Gleizes PE, Dalle JH, Strahm B, Niemeyer CM, Lipton JM, Leblanc TM; international Diamond-Blackfan anaemia syndrome guideline panel.
Lancet Haematol
11・5
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2024/6
Matsushima M, Yaguchi H, Koshimizu E, Kudo A, Shirai S, Matsuoka T, Ura S, Kawashima A, Fukazawa T, Miyatake S, Matsumoto N, Yabe I*
J Neurol
271・6・3643-3647
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2024/6
Mori T*, Nakano M, Tayama T, Goji A, Toda Y, Kameyama S, Mizuguchi T, Urushihara M, Matsumoto N
Brain Dev
46・6・230-233
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2024/6
Hara T, Kazuno AA, Toyota T, Ueda J, Shuno T, Mukai J, Sato TA, Matsumoto N, Yoshikawa T, Takata A*
Psychiatry Clin Neurosci
78・6・374-375
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2024/6
Takeda Y, Ueki M, Matsuhiro J, Walinda E, Tanaka T, Yamada M, Fujita H, Takezaki S, Kobayashi I, Tamaki S, Nagata S, Miyake N, Matsumoto N, Osawa M, Yasumi T, Heike T, Ohtake F, Saito MK, Toguchida J, Takita J, Ariga T, Iwai K*
J Exp Med
221・6
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2024/6
Iwasaki, T, Kamatani, Y, Sonomura, K, Kawaguchi, S and Matsuda, F
STAR Protoc
5・2
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2024/6
Sato T, Nagai M, Watanabe O, Misu T, Takenouchi N, Ohkubo R, Ishihara S, Tsuboi Y, Katsuno M, Nakagawa M, Matsushita T, Aso Y, Matsuura E, Tokashiki T, Mukaino A, Adachi H, Nakanishi K, Yamaguchi Y, Yamaguchi S, Yamano Y
J Neurol
271・6・3471-3485
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2024/6
Suga A, Minegishi Y, Yamamoto M, Ueda K, Iwata T.
Communications Biology
7・1
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2024/6
Yamato G, Tsumura Y, Muramatsu H, Shimada A, Imaizumi T, Tsukagoshi H, Kaburagi T, Shiba N, Yamada Y, Deguchi T, Kawai T, Terui K, Ito E, Watanabe K, Hayashi Y.
Blood Advances
8・12・3120-3129
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2024/6
Sato T, Yoshida K, Toki T, Kanezaki R, Terui K, Saiki R, Ojima M, Ochi Y, Mizuno S, Yoshihara M, Uechi T, Kenmochi N, Tanaka S, Matsubayashi J, Kisai K, Kudo K, Yuzawa K, Takahashi Y, Tanaka T, Yamamoto Y, Kobayashi A, Kamio T, Sasaki S, Shiraishi Y, Chiba K, Tanaka H, Muramatsu H, Hama A, Hasegawa D, Sato A, Koh K, Karakawa S, Kobayashi M, Hara J, Taneyama Y, Imai C, Hasegawa D, Fujita N, Yoshitomi M, Iwamoto S, Yamato G, Saida S, Kiyokawa N, Deguchi T, Ito M, Matsuo H, Adachi S Prof, Hayashi Y, Taga T, Moriya Saito A, Horibe K, Watanabe K, Tomizawa D, Miyano S, Takahashi S, Ogawa S, Ito E.
Blood
143・25・2627-2643
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2024/6
Wakamatsu M, Muramatsu H, Sato H, Ishikawa M, Konno R, Nakajima D, Hamada M, Okuno Y, Kawashima Y, Hama A, Ito M, Iwafuchi H, Takahashi Y, Ohara O.
Leukemia
38・6・1256-1265
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2024/6
Inoue S, Ko T, Shindo A, Nomura S, Yamada T, Jimba T, Dai Z, Nakao H, Suzuki A, Kashimura T, Iwahana T, Goto K, Matsushima S, Ishida J, Amiya E, Zhang B, Kubota M, Sawami K, Heryed T, Yamada S, Katoh M, Katagiri M, Ito M, Nayakama Y, Fujiu K, Hatano M, Takeda N, Takimoto E, Akazawa H, Morita H, Yamaguchi J, Inomata T, Kobayashi Y, Minamino T, Tsutsui H, Kurokawa M, Aiba A, Aburatani H, Komuro I.
JACC Basic Transl Sci
9・8・956-967
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2024/7
Ikeda A, Meng H, Taniguchi D, Mio M, Funayama M, Nishioka K, Yoshida M, Li Y, Yoshino H, Inoshita T, Shiba-Fukushima K, Okubo Y, Sakurai T, Amo T, Aiba I, Saito Y, Saito Y, Murayama S, Atsuta N, Nakamura R, Tohnai G, Izumi Y, Morita M, Tamura A, Kano O, Oda M, Kuwabara S, Yamashita T, Sone J, Kaji R, Sobue G, Imai Y, Hattori N
PNAS Nexus
3・8
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2024/7
Misumi Y*, Yamashita T, Kuratomi A, Murakami Y, Fujita A, Matsumoto N, Ueda M
J Hum Genet
69・7・345-348
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2024/7
Sugeno N*, Kumada S, Kashii H, Ikezawa J, Kawarai T, Nakamura T, Miyata A, Ishiyama S, Sato K, Yoshida S, Sekiguchi H, Hamanaka K, Miyatake S, Miyake N, Matsumoto N, Akagawa H, Kosaki K, Yoshihashi H, Hasegawa T, Aoki M
Parkinsonism Relat Disord
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2024/7
Tsuburaya-Suzuki R, Ohori S, Hamanaka K, Fujita A, Matsumoto N, Kinoshita M*
Front Genet
15
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2024/7
Inamori KI#,*, Nakamura K#, Shishido F# (# denotes equal contribution), Hsu JC, Nagafuku M, Nitta T, Ikeda J, Yoshimura H, Kodaira M, Tsuchida N, Matsumoto N, Uemura S, Ohno S, Manabe N, Yamaguchi Y, Togayachi A, Aoki-Kinoshita KF, Nishihara S, Furukawa JI, Kaname T, Nakamura M, Shimohata T, Tadaka S, Shirota M, Kinoshita K, Nakamura Y, Ohno I, Sekijima Y, Inokuchi JI* (*: co-correspondence)
Front Neurosci
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2024/7
Outcomes of Chronic Thromboembolic Pulmonary Hypertension After Balloon Pulmonary Angioplasty and Pulmonary Endarterectomy
Masaki K, Hosokawa K, Funakoshi K, Taniguchi Y, Adachi S, Inami T, Yamashita J, Ogino H, Tsujino I, Hatano M, Yaoita N, Ikeda N, Shimokawahara H, Tanabe N, Kubota K, Shigeta A, Ogihara Y, Horimoto K, Dohi Y, Kawakami T, Tamura Y, Tatsumi K, Abe K; CTEPH AC Registry Study Group
JACC Asia
4・8・577-589
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2024/7
Saito K, Fujimoto M, Funajima E, Serada S, Ohkawara T, Ishihara M, Yamada M, Suzuki H, Miya F, Kosaki K, Fujieda M, Naka T.
Journal of Allergy and Clinical Immunology: Global
3・4
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2024/7
Tsuboyama Y, Takahashi A, Furukawa S, Almansour A, Hamada M, Kubota A, Shimizu J, Kinoshita M, Fujimoto C, Mitsui J, Matsukawa T, Naruse H, Ishiura H, Tsuji S, Toda T.
Journal of Neurology
271・7・4635-4638
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2024/7
Pongpakdee S, Apiwattanakul M, Termglinchan T, Witoonpanich R, Dejthevaporn C, Lee T, Wansophonkul S, Yamanaka A, Funaguma S, Iida A, Nishino I
Neurology Genetics
10・4
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2024/7
Nagoshi R, Sakamoto A, Imai T, Uchiyama T, Kaname T, Kunishima S, Ishiguro A.
International Journal of Hematology
120・1・142-145
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2024/7
Iyoda S, Yoshida K, Shoji K, Ito N, Tanaka M, Nannya Y, Yamato G, Tsujimoto S, Shiba N, Hayashi Y, Shiozawa Y, Shiraishi Y, Chiba K, Okada A, Tanaka H, Miyano S, Koga Y, Goto H, Moritake H, Terui K, Ito E, Kiyokawa N, Tomizawa D, Taga T, Tawa A, Takita J, Nishikori M, Adachi S, Ogawa S, Matsuo H.
Leukemia
38・7・1609-1612
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2024/7
Kagajo M, Moritani K, Iwamoto M, Miyamoto M, Imai T, Hamada M, Wakamatsu M, Muramatsu H, Eguchi-Ishimae M, Eguchi M.
Leuk Res Rep
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2024/7
Katoh M, Nomura S, Yamada S, Ito M, Hayashi H, Katagiri M, Heryed T, Fujiwara T, Takeda N, Nishida M, Sugaya M, Kato M, Osawa T, Abe H, Sakurai Y, Ko T, Fujita K, Zhang B, Hatsuse S, Yamada T, Inoue S, Dai Z, Kubota M, Sawami K, Ono M, Morita H, Kubota Y, Mizuno S, Takahashi S, Nakanishi M, Ushiku T, Nakagami H, Aburatani H, Komuro I.
Circulation
150・5・374-389
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2024/8
Maeda A, Tsuchida N, Uchiyama Y,Horita N, Kobayashi S, Kishimoto M, Kobayashi D, Matsumoto H, Asano T, Migita K, Kato A, Mori I, Morita H, Matsubara A, Marumo Y, Ito Y, Machiyama T, Shirai T, Ishii T, Kishibe M, Yoshida Y, Hirata S, Akao S, Higuchi A, Rokutanda R, Nagahata K, Takahashi H, Katsuo K, Ohtani T, Fujiwara H, Nagano H, Hosokawa T, Ito T, Haji Y, Yamaguchi H, Hagino N, Shimizu T, Koga T, Kawakami A, Kageyama G, Kobayashi H, Aoki A, Mizokami A, Takeuchi Y, Motohashi R, Hagiyama H, Itagane M, Teruya H, Kato T, Miyoshi Y, Kise T, Yokogawa N, Ishida T, Umeda N, Isogai S, Naniwa T, Yamabe T, Uchino K, Kanasugi J, Takami A, Kondo Y, Furuhashi K, Saito K, Ohno S, Kishimoto D, Yamamoto M, Fujita Y, Fujieda Y, Araki S, Tsushima H, Misawa K, Katagiri A, Kobayashi T, Hashimoto K, Sone T, Hidaka Y, Ida H, Nishikomori R, Doi H, Fujimaki K, Akasaka K, Amano M, Matsushima H, Kashino K, Ohnishi H, Miwa Y, Takahashi N, Takase-Minegishi K, Yoshimi R, Kirino Y, Nakajima H, Matsumoto N*
Rheumatology (Oxford)
63・8・2056-2064
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2024/8
Tsuchida N#, Uchiyama Y#, Maeda A# (#: equal contribution), Horita N, Kirino Y, Matsumoto N*
Rheumatology (Oxford)
63・8・e229-e230
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2024/8
Silva S, Rosas M, Guerra B, Muñoz M, Fujita A, Sakamoto M, Matsumoto N*
Brain Dev
46・7・250-253
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2024/8
Hanada K*, Osaki Y, Miyamoto R, Muto K, Haji S, Nazere K, Kuwano Y, Morino H, Azuma Y, Miyatake S, Matsumoto N, Izumi Y
Hum Genome Var
11・1・29
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2024/8
Shibata Y, Shibata A, Mizuguchi T, Matsumoto N, Osaka H*
Hum Genome Var
11・1・33
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2024/8
Yamada M, Mizuno S, Inaba M, Uehara T, Inagaki H, Suzuki H, Miya F, Takenouchi T, Kurahashi H, Kosaki K.
The American Journal of Medical Genetics
194・8
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2024/8
Suzuki H, Muramatsu Y, Miya F, Asada H, Yamada M, Nishimura G, Kosaki K, Takenouchi T.
The European Journal of Medical Genetics
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2024/8
Watanabe D, Okamoto N, Kobayashi Y, Suzuki H, Kato M, Saitoh S, Kanemura Y, Takenouchi T, Yamada M, Nakato D, Sato M, Tsunoda T, Kosaki K, Miya F.
Scientific Reports
14・1
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2024/8
Shimabukuro W, Chinen Y, Imanaga N, Yanagi K, Kaname T, Nakanish K.
Pediatric Nephrology
39・8・2351-2353
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2024/8
Imai T, Mitsuhashi S, Isahaya K, Shibata S, Kawai Y, Omae Y, Tokunaga K; NCBN Controls WGS Consortium (Kaname T); Yamano Y.
Human Genome Hum Genome Varariation
11・1
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2024/8
心不全の病態を理解するシングルセルオミックス解析
野村征太郎
生体の科学
75・4
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Timmins HC, Mok VCT, Kim SH, Shahrizaila N, Sung JY, Sobue G, Agustini S, Ward S, Anstey KJ, Talbot DL, Mazumder S, Tu S, Tan RH, Shin-Yi Lin C, O'Callaghan C, Michaelian JC, Jeon YH, Foxe D, Naismith SL, Piguet O, Ahmed R, Devenney E, Park SB, Kiernan MC
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50
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2024/9
Naito T, Inoue K, Namba S, Sonehara K, Suzuki K; BioBank Japan; Matsuda K, Kondo N, Toda T, Yamauchi T, Kadowaki T, Okada Y
Commun Med (Lond)
4・1・181
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Genomics
116・5
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2024/9
Watanabe K, Bunai T, Sakamoto M, Ishigaki S, Iwakura T, Ohashi N, Wakatsuki R, Takenouchi A, Iwaizumi M, Hotta Y, Saida K, Koshimizu E, Miyatake S, Saitsu H, Matsumoto N*, Nakamura T* (*: co-correspondence)
J Neurol
271・9・6227-6237
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2024/9
Nakamura H, Doi H*, Miyaji Y, Wada T, Takahashi E, Tada M, Fukuda H, Fujita A, Higashiyama Y, Nagao Y, Kimura K, Hayashi M, Hoshino K, Matsumoto N, Tanaka F* (*: co-correspondence)
BMC Neurol
24・1・310
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2024/9
Case Report, Frequent breath-hold while awakening in SATB1 missense variant
Aihara Y, Saito T, Suenaga Y, Miyana K, Itai T, Miyatake S, Yamamoto K, Sumitomo N, Baba S, Takeshita E, Shimizu-Motohashi Y, Takahashi Y, Mizusawa H, Matsumoto N, Sasaki M.
Brain and Development
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2024/9
Watanabe A, Wang L, Tan TK, Urayama KY, Kizuki T, Komatsu C, Kagami K, Shinohara T, Kasai S, Tamai M, Harama D, Akahane K, Goi K, Goto H, Satou K, Kaname T, Sanda T, Inukai T.
Cancer Science
115・9・3196-3199
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2024/9
Yano N, Chong PF, Kojima KK, Miyoshi T, Luqmen-Fatah A, Kimura Y, Kora K, Kayaki T, Maizuru K, Hayashi T, Yokoyama A, Ajiro M, Hagiwara M, Kondo T, Kira R, Takita J, Yoshida T.
Journal of Medical Genetics
61・10・950-958
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2024/9
Ito M, Katoh M, Sassa T, Ko T, Fujita K, Yamada S, Miura K, Toyoda M, Takada S, Tobita T, Katagiri M, Kubota M, Yamada T, Hatsuse S, Morita H, Ikeuchi M, Matsuura K, Umezawa A, Nomura S, Aburatani H, Komuro I.
Circulation
150・12・971-974
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2024/9
シングルセルオミックス解析による心不全の病態の理解
野村征太郎
臨床雑誌内科
134・3
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2024/10
Imamura K, Izumi Y, Egawa N, Ayaki T, Nagai M, Nishiyama K, Watanabe Y, Murakami T, Hanajima R, Kataoka H, Kiriyama T, Nanaura H, Sugie K, Hirayama T, Kano O, Nakamori M, Maruyama H, Haji S, Fujita K, Atsuta N, Tatebe H, Tokuda T, Takahashi N, Morinaga A, Tabuchi R, Oe M, Kobayashi M, Lobello K, Morita S, Sobue G, Takahashi R, Inoue H
BMJ Open
14・10
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2024/10
Arakawa A, Goto R, Higashihara M, Hiroyoshi Y, Shioya A, Hara M, Orita M, Matsubara T, Sengoku R, Kameyama M, Tokumaru AM, Hasegawa M, Toda T, Iwata A, Murayama S, Saito Y
Neuropathology
44・5・376-387
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2024/10
Kawashima A, Kodama K, Okubo Y, Endo W, Inui T, Ikeda M, Katata Y, Togashi N, Ohba C, Imagawa E, Iwama K, Mizuguchi T, Kitami M, Aihara Y, Takayama J, Tamiya G, Kikuchi A, Kure S, Saitsu H, Matsumoto N, Haginoya K*
Am J Med Genet A
194・10
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2024/10
Da Cás E, Pires LVL, Linnenkamp BDW, Allegro MC, Honjo RS, Bertola DR, Aoi H, Matsumoto N, Kim CA*
Eur J Med Genet
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2024/10
Kakurai M*, Honda R* (*: co-correspondence), Tsuchida N, Maeda A, Uchiyama Y, Matsumoto N, Ito S
Eur J Dermatol
34・5・545-546
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2024/10
Shibata, M, Terada, A, Kawaguchi, T, Kamatani, Y, Okada, D, Nagashima, K, Ohmura, K, Matsuda, F, Kawaguchi, S, Sese, J and Yamada, R
J Hum Genet
69・10・541-547
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2024/10
Sato T, Yagishita N, Araya N, Nakashima M, Horibe E, Takahashi K, Kunitomo Y, Nawa Y, Hamaguchi I, Yamano Y
Viruses
16・10
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2024/10
Chin KM, Gaine SP, Gerges C, Jing ZC, Mathai SC, Tamura Y, McLaughlin VV, Sitbon O
European Respiratory Journal
64・4
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2024/10
Watanabe D, Tsujioka Y, Nakato D, Yamada M, Suzuki H, Ohnishi T, Tamai N, Kijima T, Takenouchi T, Miya F, Narumi S, Kenjiro Kosaki K.
The European Journal of Medical Genetics
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2024/10
Inooka T, Hayashi T, Tsunoda K, Kuniyoshi K, Kondo H, Mizobuchi K, Suga A, Iwata T, Yoshitake K, Kondo M, Goto K, Ota J, Kominami T, Nishiguchi KM, Ueno S.
Retina
44・10・1836-1844
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2024/10
Ikeda K, Tamagake A, Kubota T, Izumi R, Yamaguchi T, Yanagi K, Misu T, Aoki Y, Kaname T, Aoki M.
The Cerebellum
23・5・2205-2207
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2024/10
Okamoto N, Yoshida S, Ogitani A, Etani Y, Yanagi K, Kaname T.
The American Journal of Medical Genetics - Part A
194・10
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2024/10
Kamatani Y, Kaname T.
The Journal of Human Genetics
69・10
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2024/10
小児臨床検査2024 XV.染色体・遺伝子検査 1.総論 8)次世代シーケンサー - エクソーム解析,全ゲノム解析
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2024/10
Koyama S, Liu X, Koike Y, Hikino K, Koido M, Li W, Akaki K, Tomizuka K, Ito S, Otomo N, Suetsugu H, Yoshino S, Akiyama M, Saito K, Ishikawa Y, Benner C, Natarajan P, Ellinor PT, Mushiroda T, Horikoshi M, Ikeda M, Iwata N, Matsuda K; Biobank Japan Project; Niida S, Ozaki K, Momozawa Y, Ikegawa S, Takeuchi O, Ito K, Terao C.
Nat Genet
56・10・2027-2035
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2024/10
Yuki Hitomi, Kazuko Ueno, Yoshihiro Aiba, Nao Nishida, Michihiro Kono, Yosuke Kawai, Minae Kawashima, Seik-Soon Khor, Kazuhiro Sugi, Hirotaka Kouno, Hiroshi Kouno, Atsushi Naganuma, Satoru Iwamoto, Shinji Katsushima, Kiyoshi Furuta, Toshiki Nikam9, Tomohiko Mannami, Tsutomu Yamashita, Keisuke Ario, Tatsuji Komatsu, Fujio Makita, Masaaki Shimada, Shiro Yokohama, Hideo Nishimura, Rie Sugimoto, Takuya Komura, Hajime Ota, Motoyuki Kojima, Makoto Nakamuta, Naoyuki Fujimori, Kaname Yoshizawa, Yutaka Mano, Hironao Takahashi, Kana Hirooka, Satoru Tsuruta, Takeaki Sato, Shinya Nagaoka, Seigo Abiru, Hiroshi Yatsuhashi, Masahiro Ito, Kazuhito Kawata, Akinobu Takaki, Kuniaki Arai, Teruko Arinaga, Masanori Abe, Masaru Harada, Makiko Taniai, Mikio Zeniya, Hiromasa Ohira, Shinji Shimoda, Atsumasa Komori, Atsushi Tanaka, Kazuyoshi Ishigaki, Masao Nagasaki, Katsushi Tokunaga, Minoru Nakamura.
Hepatology
80・4・776-790
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2024/11
Ishihara T, Koyama A, Atsuta N, Tada M, Toyoda S, Kashiwagi K, Hirokawa S, Hatano Y, Yokoseki A, Nakamura R, Tohnai G, Izumi Y, Kaji R, Morita M, Tamura A, Kano O, Aoki M, Kuwabara S, Kakita A, Sobue G, Onodera O
BMC Med Genomics
17・1・263
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2024/11
Naruse H, Iseki C, Mitsui J, Miki J, Nagasawa H, Kurokawa K, Kobayashi R, Sato H, Goto J, Satake W, Ishiura H, Tsuji S, Ohta Y, Toda T
Amyotroph Lateral Scler Frontotemporal Degener
25・7-8・791-794
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2024/11
Tsujimoto T, Ou Y, Suzuki M, Murata Y, Inubushi T, Nagata M, Ishihara Y, Yonei A, Miyashita Y, Asano Y, Sakai N, Sakata Y, Ogino H, Yamashiro T, Kurosaka H
Hum Mol Genet
33・22・1975-1985
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2024/11
Miyatake S#, Doi H#, Yaguchi H#, Koshimizu E# (#: equal contribution), Kihara N, Matsubara T, Mori Y, Kunieda K, Shimizu Y, Toyota T, Shirai S, Matsushima M, Okubo M, Wada T, Kunii M, Johkura K, Miyamoto R, Osaki Y, Miyama T, Satoh M, Fujita A, Uchiyama Y, Tsuchida N, Misawa K, Hamanaka K, Hamanoue H, Mizuguchi T, Morino H, Izumi Y, Shimohata T, Yoshida K, Adachi H, Tanaka F, Yabe I*, Matsumoto N* (*: co-corresponding)
Neurol Neurosurg Psychiatry
95・12・1187-1195
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2024/11
Yoshida R, Kaneyasu T, Ueki A, Yamauchi H, Ohsumi S, Ohno S, Aoki D, Baba S, Kawano J, Matsumoto N, Nagasaki M, Ueno T, Inari H, Kobayashi Y, Takei J, Gotoh O, Nishi M, Okamura M, Kaneko K, Okawa M, Suzuki M, Amino S, Inuzuka M, Noda T, Mori S*, Nakamura S
Breast Cancer
31・6・1028-1036
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2024/11
Wang Z, Kometani M, Zeitlin L, Wilnai Y, Kinoshita A, Yoshiura KI, Ninomiya H, Imamura T, Guo L, Xue J, Yan L, Ohashi H, Pretemer Y, Kawai S, Shiina M, Ogata K, Cohn DH, Matsumoto N, Nishimura G, Toguchida J, Miyake N, Ikegawa S*
J Hum Genet
69・11・599-605
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2024/11
Nakamura Y, Shimada IS*, Maroofian R, Falabella M, Zaki MS, Fujimoto M, Sato E, Takase H, Aoki S, Miyauchi A, Koshimizu E, Miyatake S, Arioka Y, Honda M, Higashi T, Miya F, Okubo Y, Ogawa I, Scardamaglia A, Miryounesi M, Alijanpour S, Ahmadabadi F, Herkenrath P, Dafsari HS, Velmans C, Al Balwi M, Vitobello A, Denommé-Pichon AS, Jeanne M, Civit A, Abdel-Hamid MS, Naderi H, Darvish H, Bakhtiari S, Kruer MC, Carroll CJ, Ghayoor Karimiani E, Khailany RA, Abdulqadir TA, Ozaslan M, Bauer P, Zifarelli G, Seifi T, Zamani M, Al Alam C, Alvi JR, Sultan T, Efthymiou S, Pope SAS, Haginoya K, Matsunaga T, Osaka H, Matsumoto N, Ozaki N, Ohkawa Y, Oki S, Tsunoda T, Pitceathly RDS, Taketomi Y, Houlden H, Murakami M, Kato Y*, Saitoh S* (*: co-correspondence)
Brain
147・11・3949-3967
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2024/11
Li S#, Takada S# (#: equal contribution), Abdel-Salam GMH, Abdel-Hamid MS, Zaki MS, Issa MY, Salem AMS, Koshimizu E, Fujita A, Fukai R, Ohshima T*, Matsumoto N*, Miyake N* (*: co-correspondence)
NPJ Genom Med
9・1・55
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2024/11
Masuko S, Sato M, Nakamura K*, Hamanaka K, Miyatake S, Inaba Y, Kosho T, Matsumoto N, Sekijima Y
Mol Genet Genomic Med
12・11
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2024/11
Yamamoto, M, Kanda, M, Mizushima, I, Kanno, A, Umemura, T, Ikeura, T, Kodama, Y, Dobashi, H, Tanaka, Y, Masamune, A, Moriyama, M, Saeki, T, Matsui, S, Origuchi, T, Masaki, Y, Asada, M, Umehara, H, Seno, H, Naitoh, I, Yamamoto, S, Iwasaki, E, Kubota, K, Tanoue, S, Nishino, T, Tsuboi, H, Matsumoto, Y, Isayama, H, Goto, H, Notohara, K, Uchida, K, Kawabe, K, Yamada, K, Kasashima, S, Takahira, M, Sato, Y, Kawachi, I, Yamaguchi, I, Okazaki, K, Nakamura, S, Matsuda, F, Ishikawa, H and Kawano, M; Patient Registry Committee, Research Program for Intractable Disease by the Ministry of Health, Labour and Welfare (MHLW), Japan *Other than the co-authors, the members of Patient Registry Committee, Research Program for Intractable Disease by the Ministry of Health, Labour and Welfare (MHLW), Japan are as follows: Yokoyama, K (Jichi Medical University)
Immunol Med
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2024/11
Tamura Y, Hosokawa K, Horimoto K, Ikeda S, Inami T, Kubota K, Nakanishi N, Shirai Y, Tanabe N, Tsujino I, Matsubara H
Diagnostics (Basel)
14・23
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2024/11
Imai Y, Kusano K, Aiba T, Ako J, Asano Y, Harada-Shiba M, Kataoka M, Kosho T, Kubo T, Matsumura T, Minamino T, Minatoya K, Morita H, Nishigaki M, Nomura S, Ogino H, Ohno S, Takamura M, Tanaka T, Tsujita K, Uchida T, Yamagishi H, Ebana Y, Fujita K, Ida K, Inoue S, Ito K, Kuramoto Y, Maeda J, Matsunaga K, Neki R, Sugiura K, Tada H, Tsuji A, Yamada T, Yamaguchi T, Yamamoto E, Kimura A, Kuwahara K, Maemura K, Minamino T, Morisaki H, Tokunaga K; Japanese Circulation Society, Japanese College of Cardiology, Japanese Society of Pediatric Cardiology and Cardiac Surgery Joint Working Group
Circulation Journal
88・12・2022-2099
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2024/11
Goto R, Oba K, Bando K, Todoroki K, Yoshida J, Nishida D, Mizuno K, Mizusawa H, Takahashi Y.
Neuroscience Research
208・39-43
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Sadamitsu K, Yanagi K, Hasegawa Y, Murakami Y, Low SE, Ooshima D, Matsubara Y, Okamoto N, Kaname T, Hirata H.
The Journal of Human Genetics
69・11・553-563
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2024/11
Sato A, Yusa N, Takamori H, Shimizu E, Yokoyama K, Ichikawa S, Yokoyama H, Kasahara Y, Enda K, Fujishima F, Ichinohasama R, Ota Y, Imoto S, Nannya Y.
The Journal of Pathology
264・3・243-249
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2024/11
Hayashi H, Ko T, Dai Z, Fujita K, Nomura S, Kiyoshima H, Ishihara S, Hamano M, Komuro I, Yamanishi Y.
Bioinformatics
40・11
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Shintani-Domoto Y, Ode KL, Nomura S, Abe H, Ueda HR, Sakatani T, Ohashi R.
Virchows Arch
485・5・943-946
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Terao SI, Nosaki Y, Murao A, Torii R, Ogawa N, Miura N, Sasaki Y, Sobue G
BMJ Neurol Open
6・2
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Okubo S, Naruse H, Ishiura H, Sudo A, Esaki K, Mitsui J, Matsukawa T, Satake W, Greimel P, Shingai N, Oya Y, Yoshikawa T, Tsuji S, Toda T
J Neurol
272・1・36
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Sekiya H, Franke L, Hashimoto Y, Takata M, Nishida K, Futamura N, Hasegawa K, Kowa H, Ross OA, McLean PJ, Toda T, Wszolek ZK, Dickson DW
bioRxiv
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Orimo K, Mitsui J, Matsukawa T, Tanaka M, Nomoto J, Ishiura H, Omae Y, Kawai Y, Tokunaga K; NCBN Controls WGS Consortium; Toda T, Tsuji S
J Hum Genet
69・12・613-621
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Sumida T, Ogawa S, Higo S, Kuramoto Y, Eto R, Ikeda Y, Sun C, Li J, Liu L, Tabata T, Asano Y, Shiba M, Akazawa Y, Nakamura D, Oka T, Ohtani T, Sakata Y
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Eur J Hum Genet
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2024/12
Ono M, Nakajima K, Tomizawa SI, Shirakawa T, Okada I, Saitsu H, Matsumoto N, Ohbo K*
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The European Journal of Medical Genetics
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Mitsutake A, Kawai M, Orimo K, Matsukawa T, Ishiura H, Mitsui J, Nakajima H, Murai H, Tsuji S, Goto J, Iwata NK.
The Cerebellum
24・1
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Tomidokoro D, Nakamura T, Oka S, Miyazaki Y, Wakamiya A, Ueda N, Nakajima K,Kamakura T, Wada M, Ishibashi K, Inoue Y, Miyamoto K, Nagase S, Kitada S, SakaueY, Shiraishi H, Kabutoya T, Takami K, Miyoshi M, Takahashi N, Soeki T, Hiroi Y, Asano Y, Ohno S, Kusano K, Aiba T.
Circ Genom Precis Med
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Hirono K, Hata Y, Ichimata S, Nishida N, Imamura T, Asano Y, Kuramoto Y,Tsuboi K, Takarada S, Okabe M, Nakaoka H, Ibuki K, Ozawa S, Muneuchi J, YasudaK, Urayama K, Oka H, Miyamoto T, Baba K, Kato A, Saiki H, Kuwabara N, Harada M, Baba S, Morikawa M, Iwasaki H, Hirata Y, Ito Y, Sakaguchi H, Urata S, Toda K, Kittaka E, Okada S, Hasebe Y, Hoshino S, Fujii T, Mitsushita N, Nii M, Ogino K,Fujino M, Yoshida Y, Fukuda Y, Iwashima S, Takigiku K, Sakata Y, Inuzuka R,Maeda J, Hayabuchi Y, Fujioka T, Namiki H, Fujita S, Nishida K, Kuraoka A, KanN, Kido S, Watanabe K, Ichida F
Sci Rep
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Inflammatory Bowel Diseases
30・12・2440-2448
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2024/12
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12・12・2041-2052
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2024/12
心不全のPrecision medicineにつながる最新知見
野村征太郎
Precision Medicine
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2024/12
Ogishi M, Kitaoka K, Good-Jacobson KL, Rinchai D, Zhang B, Wang J, Gies V, Rao G, Nguyen T, Avery DT, Khan T, Smithmyer ME, Mackie J, Yang R, Arias AA, Asano T, Ponsin K, Chaldebas M, Zhang P, Peel JN, Bohlen J, Lévy R, Pelham SJ, Lei WT, Han JE, Fagniez I, Chrabieh M, Laine C, Langlais D, Gruber C, Al Ali F, Rahman M, Aytekin C, Benson B, Dufort MJ, Domingo-Vila C, Moriya K, Shlomchik M, Uzel G, Gray PE, Suan D, Preece K, Chua I, Okada S, Chikuma S, Kiyonari H, Tree TI, Bogunovic D, Gros P, Marr N, Speake C, Oram RA, Béziat V, Bustamante J, Abel L, Boisson B, Korganow AS, Ma CS, Johnson MB, Chamoto K, Boisson-Dupuis S, Honjo T, Casanova JL, Tangye SG.
Immunity
57・12・2790-2807
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2025/1
Fu L, Yamamoto Y, Seyama R, Matsuzawa N, Nagaoka M, Yao T, Hamada K, Ogata K, Suzuki T, Tsuchida N, Uchiyama Y, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Fujita A, Itakura A, Matsumoto N*
J Hum Genet
70・1・63-66
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2025/1
van der Laan L#, Silva A# (#: equal contribution), Kleinendorst L, Rooney K, Haghshenas S, Lauffer P, Alanay Y, Bhai P, Brusco A, de Munnik S, de Vries BBA, Vega AD, Engelen M, Herkert JC, Hochstenbach R, Hopman S, Kant SG, Kira R, Kato M, Keren B, Kroes HY, Levy MA, Lock-Hock N, Maas SM, Mancini GMS, Marcelis C, Matsumoto N, Mizuguchi T, Mussa A, Mignot C, Närhi A, Nordgren A, Pfundt R, Polstra AM, Trajkova S, van Bever Y, José van den Boogaard M, van der Smagt JJ, Barakat TS, Alders M, Mannens MMAM, Sadikovic B*, van Haelst MM, Henneman P* (*: co-correspondence)
HGG Adv
6・1
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2025/1
Arai Y*, Okazaki T, Okanishi T, Takano S, Fu L, Matsumoto N, Maegaki Y
Pediatr Int
67・1
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2025/1
Yasuda, M, Shiokawa, M, Kuwada, T, Nishikawa, Y, Nakanishi, R, Takimoto, I, Chikugo, K, Yokode, M, Muramoto, Y, Matsumoto, S, Nakamura, T, Ota, S, Matsumori, T, Kuroda, K, Hachiya, T, Yamazaki, H, Uza, N, Kodama, Y, Chiba, T, Fujisawa, T, Komori, A, Abe, M, Yamaguchi, I, Matsuda, F, Isayama, H, Tanaka, A and Seno, H; Japan PSC Study Group (JPSCSG)
J Gastroenterol
60・1・118-126
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2025/1
【日本循環器研究コンソーシアムの幕開け】循環器ゲノム・オミックス解析の最先端 肺高血圧のおけるバイオ・デジタルツインモデルの構築
田村雄一
心臓(0586-4488)
57・1・15-18
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2025/1
Tomoya Kubota, Miho Nagata, Kazuko Takagi, Yasuki Ishihara, Kurumi Kojima, Yuka Uchikura, Reina Yamamoto, Ayumi Yonei, Erina Ozaki, Natsuki Kira, Satoe Takahashi, Kazuaki Homma, Yohei Miyashita, Minenori Eguchi-Ishimae, Norio Sakai, Yohihiro Asano, Yasushi Sakata, Keiichi Ozono, Mariko Eguchi, Masanori P Takahashi
The Journal of Human Genetics
70・1・3-8
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2025/1
Shimazaki R, Saito Y, Awaya T, Minami N, Kurosawa R, Hosokawa M, Ohara H, Hayashi S, Takeuchi A, Hagiwara M, Hayashi YK, Noguchi S, Nishino I
Orphanet Journal of Rare Diseases
20・1
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2025/1
Isotani R, Igarashi M, Miura M, Naruse K, Kuranami S, Katoh M, Nomura S, Yamauchi T.
Elife
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2025/1
Wanezaki M, Watanabe T, Iizuka A, Kobayashi T, Edamura S, Sugai T, Tamura H, Nishiyama S, Yamaguchi R, Hashimoto N, Otaki Y, Kutsuzawa D, Kato S, Arimoto T, Inoue S, Ko T, Nomura S, Komuro I, Watanabe M.
Circ Rep
7・2・97-105
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2025/1
Nishijo D, Inoue S, Dai Z, Nomura S, Abe R, Hiruma T, Bujo C, Oshima T, Katoh M, Shimizu Y, Ito M, Yamagata K, Ishida J, Amiya E, Takeda N, Fujiu K, Hatano M, Morita H, Takeda N, Komuro I.
ESC Heart Fail
12・3・2347-2352
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2025/1
Stewart O, Gruber C, Randolph HE, Patel R, Ramba M, Calzoni E, Huang LH, Levy J, Buta S, Lee A, Sazeides C, Prue Z, Hoytema van Konijnenburg DP, Chinn IK, Pedroza LA, Lupski JR, Schmitt EG, Cooper MA, Puel A, Peng X, Boisson-Dupuis S, Bustamante J, Okada S, Martin-Fernandez M, Orange JS, Casanova JL, Milner JD, Bogunovic D.
Nature
637・8048・1186-1197
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2025/1
Lim QY, Leung D, Lam CK, Yang X, Cheong KN, Yik AKH, Yang J, Chan KW, Lee PPW, Tsumura M, Au EYL, Rosa Duque JS, Okada S (corresponding author), Lau YL.
Front Immunol
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2025/1
Tomomasa D, Nishimura M, Ohya A, Tanita K, Wakatsuki R, Watanabe R, Miyamoto S, Hoshino A, Kamiya T, Isoda T, Kaneko S, Shimizu M, Hijikata A, Eguchi K, Ishimura M, Maeda Y, Izawa K, Meguro T, Fujimoto K, Ishikita-Murayama E, Suzuki K, Okura E, Uehara T, Takayama T, Okada S, Takagi M, Morio T, Marsh RA, Kanegane H.
Clin Exp Immunol
219・1
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2025/2
Mizuguchi T*, Okamoto N, Hara T, Nishimura N, Sakamoto M, Fu L, Uchiyama Y, Tsuchida N, Hamanaka K, Koshimizu E, Fujita A, Misawa K, Nakabayashi K, Miyatake S, Matsumoto N* (*: co-correspondence)
Clin Epigenetics
17・1
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2025/2
Mizutani H*, Misumi Y, Hamanaka K, Tawara N, Miyatake S, Matsumoto N, Ueda M
Cureus
17・2
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2025/2
Yuki Horibe, Kazuaki Yamanaka, Junya Kaimori, Yuji Miyata, Shota Fukae, Takahiro Yoshida, Masahiro Nakagawa, Yasuki Ishihara, Miho Nagata, Yohei Miyashita, Yoshihiro Asano, Hidefumi Kishikawa
CEN Case Reports
14・1・11-15
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2025/2
Matsukawa T, Sudo A, Kakumoto T, Hao A, Kainaga M, Chang H, Mano T, Ishiura H, Mitsui J, Hayashi T, Morishita S, Tsuji S, Toda T.
Human Genome Variation
12・1
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2025/2
Mitsutake A, Matsukawa T, Hino R, Fujino G, Sakai Y, Mitsui J, Ishiura H, K Iwata N, Tsuji S, Toda T.
Internal Medicine
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2025/2
Morishita Y, Hamada M, Uemura S, Kikuchi H, Hisakawa H, Fujikawa T, Tamura A, Okuno Y, Wakamatsu M, Muramatsu H, Takahashi Y, Hasegawa D, Kosaka Y.
Pediatr Blood Cancer
72・2
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2025/2
Imai Y, Kusano K, Aiba T, Ako J, Asano Y, Harada-Shiba M, Kataoka M, Kosho T, Kubo T, Matsumura T, Minamino T, Minatoya K, Morita H, Nishigaki M, Nomura S, Ogino H, Ohno S, Takamura M, Tanaka T, Tsujita K, Uchida T, Yamagishi H, Ebana Y, Fujita K, Ida K, Inoue S, Ito K, Kuramoto Y, Maeda J, Matsunaga K, Neki R, Sugiura K, Tada H, Tsuji A, Yamada T, Yamaguchi T, Yamamoto E, Kimura A, Kuwahara K, Maemura K, Minamino T, Morisaki H, Tokunaga K; Japanese Circulation Society; Japanese College of Cardiology; Japanese Society of Pediatric Cardiology; Cardiac Surgery Joint Working Group. Electronic address: jcsGL@j-circ.or.jp.
J Cardiol
85・2・115-176
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2025/2
Yao N, Kinouchi K, Katoh M, Ashtiani KC, Abdelkarim S, Morimoto H, Torimitsu T, Kozuma T, Iwahara A, Kosugi S, Komuro J, Kato K, Tonomura S, Nakamura T, Itoh A, Yamaguchi S, Yoshino J, Irie J, Hashimoto H, Yuasa S, Satoh A, Mikami Y, Uchida S, Ueki T, Nomura S, Baldi P, Hayashi K, Itoh H.
Cell Metab
37・2・395-412
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2025/3
Kakumoto T, Orimo K, Matsukawa T, Mitsui J, Ishihara T, Onodera O, Suzuki Y, Morishita S;Japan Multiple System Atrophy Registry Consortium; Toda T, Tsuji S
Eur J Hum Genet
33・3・325-333
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2025/3
Kanazashi Y, Usui Y, Iwasaki Y, Sasagawa S, Endo M, Yamaguchi M, Johnson TA, Maejima K, Shiraishi K, Kohno T, Yoshida T, Sugano K, Murakami Y, Kamatani Y, Matsumoto N, Matsuda K, Momozawa Y*, Nakagawa H* (*: co-correspondence)
J Hum Genet
70・3・135-140
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2025/3
Tsukamura A, Ariyama H, Hayashi N, Miyatake S, Okado S, Sultana S, Terakado I, Yamamoto T, Yamanaka S, Fujii S, Hamanoue H, Asano R, Mizushima T, Matsumoto N, Maruo Y, Mori M*
Dis Model Mech
18・3
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2025/3
Gavazzi F, Charsar B, Hamilton E, Erler JA, Patel V, Woidill S, Sevagamoorthy A, Helman G, Schmidt J, Pizzino A, Muirhead K, Takanohashi A, Bonkowsky JL, Meyerhoffer K, Simons C, Doi H, Satoko M, Matsumoto N, Delgado MR, Sanchez-Castillo M, Wang J, de Carvalho DR, Tournev I, Chamova T, Jordanova A, Clegg NJ, Nicita F, Bertini E, Teng M, Williams D, Tonduti D, Houlden H, Stellingwerff M, Wassmer E, Garcia-Cazorla A, Bernard G, Mirchi A, Toutounchi H, Wolf NI, van der Knaap MS, Shults J, Adang LA, Vanderver AL
Mol Genet Metab
144・3
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2025/3
Nakamura J, Tsujino I, Masaki K, Hosokawa K, Funakoshi K, Taniguchi Y, Adachi S, Inami T, Yamashita J, Ogino H, Hatano M, Yaoita N, Ikeda N, Shimokawahara H, Tanabe N, Kubota K, Shigeta A, Ogihara Y, Horimoto K, Dohi Y, Kawakami T, Tamura Y, Tatsumi K, Abe K
The Journal of Heart and Lung Transplantation
44・3・339-348
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2025/3
Nishi E, Yanagi K, Okamoto N, Kaname T.
The American Journal of Medical Genetics - Part A
197・3
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2025/3
Kitai T, Kohsaka S, Kato T, Kato E, Sato K, Teramoto K, Yaku H, Akiyama E, Ando M, Izumi C, Ide T, Iwasaki YK, Ohno Y, Okumura T, Ozasa N, Kaji S, Kashimura T, Kitaoka H, Kinugasa Y, Kinugawa S, Toda K, Nagai T, Nakamura M, Hikoso S, Minamisawa M, Wakasa S, Anchi Y, Oishi S, Okada A, Obokata M, Kagiyama N, Kato NP, Kohno T, Sato T, Shiraishi Y, Tamaki Y, Tamura Y, Nagao K, Nagatomo Y, Nakamura N, Nochioka K, Nomura A, Nomura S, Horiuchi Y, Mizuno A, Murai R, Inomata T, Kuwahara K, Sakata Y, Tsutsui H, Kinugawa K; Japanese Circulation Society and the Japanese Heart Failure Society Joint Working Group.
Circulation Journal
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2025/3
Kitai T, Kohsaka S, Kato T, Kato E, Sato K, Teramoto K, Yaku H, Akiyama E, Ando M, Izumi C, Ide T, Iwasaki YK, Ohno Y, Okumura T, Ozasa N, Kaji S, Kashimura T, Kitaoka H, Kinugasa Y, Kinugawa S, Toda K, Nagai T, Nakamura M, Hikoso S, Minamisawa M, Wakasa S, Anchi Y, Oishi S, Okada A, Obokata M, Kagiyama N, Kato NP, Kohno T, Sato T, Shiraishi Y, Tamaki Y, Tamura Y, Nagao K, Nagatomo Y, Nakamura N, Nochioka K, Nomura A, Nomura S, Horiuchi Y, Mizuno A, Murai R, Inomata T, Kuwahara K, Sakata Y, Tsutsui H, Kinugawa K; Japanese Circulation Society and the Japanese Heart Failure Society Joint Working Group
Journal of Cardiac Failure
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2025/3
Sugiura K, Kubo T, Inoue S, Nomura S, Yamada T, Tobita T, Kuramoto Y, Miyashita Y, Asano Y, Ochi Y, Miyagawa K, Baba Y, Noguchi T, Hirota T, Yamasaki N, Morita H, Komuro I, Kitaoka H.
Journal of the American Heart Association
14・6
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2025/4
Fujita A, Suenaga Y, Takeshita E, Takahashi Y, Suzuki Y, Ohori S, Tsuchida N, Uchiyama Y, Koshimizu E, Miyatake S, Mizuguchi T, Matsumoto N*
J Hum Genet
70・4・227-230
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2025/4
Iwama K, Kato M, Uchiyama Y, Sakamoto M, Miyamoto R, Izumi Y, Ohashi K, Hattori A, Yoshida N, Azuma Y, Watanabe A, Ikeda C, Shimizu-Motohashi Y, Kusabiraki S, Nakagawa E, Sasaki M, Sugai K, Ohori S, Tsuchida N, Hamanaka K, Koshimizu E, Fujita A, Nakashima M, Miyatake S, Sengoku T, Ogata K, Saitoh S, Saitsu H, Ito S, Mizuguchi T, Matsumoto N*
J Hum Genet
70・4・181-188
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2025/4
Rao G, Mack CD, Nguyen T, Wong N, Payne K, Worley L, Gray PE, Wong M, Hsu P, Stormon MO, Preece K, Suan D, O'Sullivan M, Blincoe AK, Sinclair J, Okada S, Hambleton S, Arkwright PD, Boztug K, Stepensky P, Cooper MA, Bezrodnik L, Nadeau KC, Abolhassani H, Abraham RS, Seppänen MRJ, Béziat V, Bustamante J, Forbes Satter LR, Leiding JW, Meyts I, Jouanguy E, Boisson-Dupuis S, Uzel G, Puel A, Casanova JL, Tangye SG, Ma CS.
J Allergy Clin Immunol
155・4・1161-1178
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2025/5
Mitsutake A, Matsukawa T, Naito T, Ishiura H, Mitsui J, Harada H, Fujio K, Fujishiro J, Mori H, Morishita S, Tsuji S, Toda T.
Internal Medicine
64・5・759-762
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2025/5
GWASで解き明かすPBCの遺伝要因
人見祐基、中村 稔
胆と膵
-
2025/6
Miyake N*, Shiga K, Hasegawa Y, Iwabuchi C, Shiroshita K, Kobayashi H, Takubo K, Velilla F, Maeno A, Kawasaki T, Imai Y, Sakai N, Hirose T, Fujita A, Takahashi H, Okamoto N, Enokizono M, Iwasaki S, Ito S, Matsumoto N* (*: co-correspondence)
Eur J Hum Genet
33・6
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2025/6
Murakami N, Asano D, Tokushige N, Omura J, Watanabe M, Nomura S, Kitaoka H, Tamura Y
Pulm Therapy
11・2・249-268
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2025/6
Nakayama R, Tanaka TD, Inoue S, Yoshida J, Hasegawa J, Nagoshi T, Nomura S, Morita H, Yoshimura M.
ESC Heart Fail
12・3・2367-2370
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2025/7
Kashino K*, Tsuchida N, Maeda A, Uchiyama Y, Kirino Y, Matsumoto N, Hamada T
Int J Dermatol
64・7・1307-1309
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2025/7
Ikeda N, Masaki K, Hosokawa K, Funakoshi K, Taniguchi Y, Adachi S, Inami T, Yamashita J, Ogino H, Tsujino I, Hatano M, Yaoita N, Shimokawahara H, Tanabe N, Kubota K, Shigeta A, Ogihara Y, Horimoto K, Dohi Y, Kawakami T, Tamura Y, Tatsumi K, Abe K
Cardiovascular Intervention and Therapeutics
40・3・689-700
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2025/7
Jun-Ya Kaimori, Jun Matsuda, Asif Jan, Yuki Kawano, Takayuki Kawaoka, Yuta Asahina, Yohei Doi, Tatsufumi Oka, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Toshihiro Asano, Yusuke Sakaguchi, Yoshitaka Isaka
Intern Med
64・14・2208-2212
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希少疾患の網羅的ゲノム解析 -全エクソーム解析/全ゲノム解析、医学のあゆみ
要 匡
医学のあゆみ 第1土曜特集
285・1・40-46
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遺伝を考える (カラー口絵)6 Genome Data Viewer
要 匡、柳久美子
日本医師会雑誌
152・1・S13-S14
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Kawaguchi, S, Higasa, K, Yamada, R and Matsuda, F
Methods Mol Biol
2809・67-75
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Whole-genome sequencing analysis of IgG4-related disease in the Japanese population
Zhang, Y O, Iwasaki, T, Kawaguchi, T, Takahashi, H, Kawaguchi, S, Kanno, A, Yamaguchi, I, Kubota, K, Dobashi, H, Nagasaki, M, Yamamoto, M, Takahashi, M, Shimizu, M, Ikeura, T, Matsui, S, Kanda, M, Nakamura, K, Yokoyama, K, Azumi, A, Masaki, Y, Mizushima, I, Kurita, Y, Seno, H, Origuchi, T, Yazumi, S, Hirano, K, Masamune, A, Mizuno, N, Shimada, H, Moriyama, M, Hori, Y, Kodama, Y, Saeki, T, Kin, T, Kawanami, C, Asada, M, Akamizu, T, Nakamura, A, Oshima, K, Tanaka Y, Yoshifuji, H, Kamisawa, T, Kimura, T, Umehara, H, Ishikawa, H, Chiba, T, Okazaki, K, Mimori, T, Nakamura, S, Kawano, M, and Matsuda, F
Lancet Rheumatology
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Ko R, Takahashi K, Kunitomo Y, Tanabe K, Yagishita N, Yamauchi J, Araya N, Nakashima M, Horibe E, Shimizu T, Sato T, Yamano Y
Clin Exp Neuroimmunol
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原発性胆汁性肝硬変 今日の治療指針
中村 稔
医学書院
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A multicenter cohort study of multiple system atrophy
Chikada A, Orimo K, Mitsui J, Matsukawa T, Ishiura H, Toda T, Mizusawa H, Takahashi Y, Onodera O, Ishihara T, Tada M, Kuwabara S, Sugiyama A, Yamanaka Y, Takahashi R, Sawamoto N, Sakato Y, Ishimoto T, Hanajima R, Watanabe Y, Takigawa H, Adachi H, Abe K, Yamashita T, Takashima H, Higashi H, Kira J, Yabe I, Matsushima M, Ogara K, Ishikawa K, Nishida Y, Ishiguro T, Ozaki K, Nagata T, Tsuji S. The Japan MSA registry
Neurol Clin Neuro Sci
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A case of CLCN4-related epilepsy presenting as epilepsy of infancy with migrating focal seizures.
Suzuki K, Suzuki Y, Yamada M, Nodera M, Miya F, Kato M, Hosoya M.
Brain Dev. Case Rep.
-
AFG3L2遺伝子の病的バリアントによる両眼視神経萎縮(OPA12)の1 例
西川典子、蒔田芳男、青木大芽、柳久美子、要 匡
臨床眼科
78・3・337-342
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迅速網羅的遺伝子解析により診断したACTG2 Visceral Myopathy の1例
三浦崇徳、水本洋、阿水利沙、園田真理、遠藤耕介、要 匡
日周産期・新生児会誌
-
希少疾患の網羅的ゲノム解析 —全エクソーム解析/全ゲノム解析
要 匡
別冊・医学のあゆみ「全ゲノム解析に基づく難病のゲノム医学」
-
CTRCDと遺伝子変異
野村征太郎
日本臨牀
82・316-321
-
循環器疾患におけるシングルセル解析研究の実際
野村征太郎
医学のあゆみ第5土曜特集
288・13