■ 学術雑誌
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原著
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1.
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Yasuda J, Katsuoka F, Danjoh I, Kawai Y, Kojima K, Nagasaki M, Saito S, Yamaguchi-Kabata Y, Tadaka S, Motoike IN, Kumada K, Sakurai-Yageta M, Tanabe O, Fuse N, Tamiya G, Higasa K, Matsuda F, Yasuda N, Iwasaki M, Sasaki M, Shimizu A, Kinoshita K, Yamamoto M.：
Regional genetic differences among Japanese populations and performance of genotype imputation using whole-genome reference panel of the Tohoku Medical Megabank Project.
BMC Genomics
19
(1)
：551
, 2018
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2.
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Yamada Y, Kato K, Oguri M, Horibe H, Fujimaki T, Yasukochi Y, Takeuchi I, Sakuma J：
Identification of four genes as novel susceptibility loci for early‑onset type 2 diabetes mellitus, metabolic syndrome, or hyperuricemia.
Biomedical reports
9
(1)
：21
-36
, 2018
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3.
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Yamada Y, Kato K, Oguri M, Horibe H, Fujimaki T, Yasukochi Y, Takeuchi I, Sakuma J：
Identification of nine genes as novel susceptibility loci for early‑onset ischemic stroke, intracerebral hemorrhage, or subarachnoid hemorrhage.
Biomedical reports
9
(1)
：8
-20
, 2018
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4.
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Yasukochi Y, Sakuma J, Takeuchi I, Kato K, Oguri M, Fujimaki T, Horibe H, Yamada Y：
Six novel susceptibility loci for coronary artery disease and cerebral infarction identified by longitudinal exome-wide association studies in a Japanese population.
Biomedical reports
9
(2)
：123
-134
, 2018
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5.
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Yamada Y, Yasukochi Y, Kato K, Oguri M, Horibe H, Fujimaki T, Takeuchi I, Sakuma J：
Identification of 26 novel loci that confer susceptibility to early‑onset coronary artery disease in a Japanese population.
Biomedical reports
9
(5)
：383
-404
, 2018
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6.
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Yasukochi Y, Sakuma J, Takeuchi I, Kato K, Oguri M, Fujimaki T, Horibe H, Yamada Y：
Two novel susceptibility loci for type 2 diabetes mellitus identified by longitudinal exome-wide association studies in a Japanese population.
Genomics
111
(1)
：34
-42
, 2019
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7.
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Satoshi Hirata, Kaname Kojima, Kazuharu Misawa, Olivier Gervais, Yosuke Kawai, Masao Nagasaki：
Population-scale whole genome sequencing identifies 271 highly polymorphic short tandem repeats from Japanese population.
Heliyon
4
(5)
：e00625
, 2018
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8.
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Yamada Y, Horibe H, Oguri M, Sakuma J, Takeuchi I, Yasukochi Y, Kato K, Sawabe M：
Identification of novel hyper- or hypomethylated CpG sites and genes associated with atherosclerotic plaque using an epigenome-wide association study.
International journal of molecular medicine
41
(5)
：2724
-2732
, 2018
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9.
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Yamada Y, Kato K, Oguri M, Horibe H, Fujimaki T, Yasukochi Y, Takeuchi I, Sakuma J：
Identification of 13 novel susceptibility loci for early-onset myocardial infarction, hypertension, or chronic kidney disease.
International journal of molecular medicine
42
(5)
：2415
-2436
, 2018
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10.
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Yamada Y, Kato K, Oguri M, Horibe H, Fujimaki T, Yasukochi Y, Takeuchi I, Sakuma J：
Identification of 12 novel loci that confer susceptibility to early-onset dyslipidemia.
International journal of molecular medicine
43
(1)
：57
-82
, 2019
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11.
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Yasukochi Y, Nishimura T, Motoi M, Watanuki S：
Association of EGLN1 genetic polymorphisms with SpO2 responses to acute hypobaric hypoxia in a Japanese cohort.
Journal of physiological anthropology
37
(1)
：9
, 2018
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12.
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Sato Y, Tsukaguchi H, Morita H, Higasa K, Tran MTN, Hamada M, Usui T, Morito N, Horita S, Hayashi T, Takagi J, Yamaguchi I, Nguyen HT, Harada M, Inui K, Maruta Y, Inoue Y, Koiwa F, Sato H, Matsuda F, Ayabe S, Mizuno S, Sugiyama F, Takahashi S, Yoshimura A.：
A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome.
Kidney international
94
(2)
：396
-407
, 2018
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13.
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Furusawa Y, Yamaguchi I, Yagishita N, Tanzawa K, Matsuda F, Yamano Y; RADDAR‐J Research and Development Group; Yamada R, Tabara Y, Kamatani Y, Kawaguchi S, Kosugi S, Higasa K, Matsubara Y, Matsumoto N, Aasano Y, Nishino I, Nakamura H, Takano A, Ito M, Sakai S.：
National platform for Rare Diseases Data Registry of Japan.
Learning Health Systems
3
(3)
：e10080
, 2019
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14.
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Yasukochi Y, Sakuma J, Takeuchi I, Kato K, Oguri M, Fujimaki T, Horibe H, Yamada Y：
Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.
Molecular genetics and genomics : MGG
293
(2)
：371
-379
, 2018
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15.
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Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S.：
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
Nature Genetics
50
(4)
：581
-590
, 2018
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16.
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Yamaura T, Miyoshi H, Maekawa H, Morimoto T, Yamamoto T, Kakizaki F, Higasa K, Kawada K, Matsuda F, Sakai Y, Taketo MM.：
Accurate diagnosis of mismatch repair deficiency in colorectal cancer using high-quality DNA samples from cultured stem cells.
Oncotarget
9
(101)
：37534
-37548
, 2018
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17.
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Kondo H, Uchio E, Kusaka S, Higasa K：
Risk allele of FZD4 gene for familial exudative vitreoretinopathy.
Ophthalmic Genetics
39
(3)
：405
-406
, 2018
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18.
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Yasukochi Y, Sakuma J, Takeuchi I, Kato K, Oguri M, Fujimaki T, Horibe H, Yamada Y：
Identification of nine novel loci related to hematological traits in a Japanese population.
Physiological genomics
50
(9)
：758
-769
, 2018
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■ 学会発表
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国際学会及び海外の学会
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1.
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Daigo Okada, Naotoshi Nakamura, Kazuya Setoh, Takahisa Kawaguchi, Maiko Narahara, Koichiro Higasa, Yasuharu Tabara, Fumihiko Matsuda, Ryo Yamada：
Visualization of comprehensively changes in whole cell subsets after influenza vaccination.
EMBO Workshop: VIZBI 2019 - the 10th international meeting on Visualizing Biological Data,
Heidelberg, Germany,
2019/03
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2.
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Kazuharu Misawa, Eikan Mishima, Motoshi Ouchi, Takanori Hasegawa, Kaname Kojima, Yosuke Kawai, Masao Nagasaki, Naohiko Anzai, Takaaki Abe, and Masayuki Yamamoto：
Rare variants explain a substantial portion of the missing heritability of the uric acid level.
American Society of Human Genetics 2018 meeting,
San Diego, USA,
2018/10
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3.
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Yoshioka W, Okubo M, Ogawa M, Matsuda F, Higasa K, Mori-Yoshimura M, Oya Y, Kimura E, Nakamura H, Hayashi S, Iida A, Noguchi S, Nishino I：
Frequency of c.620A>T homozygotes is extremely low in Japanese GNE myopathy patients: What is determining the pathogenicity?.
11th Japanese‐French Workshop “New insights in personalized medicine for neuromuscular diseases: From Basic to Applied Myology”,
東京都小平市,
2018/06
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全国規模の学会
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1.
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岡田 大瑚、中村 直俊、瀬藤 和也、川口 喬久、奈良原 舞子、日笠 幸一郎、田原 康玄、松田 文彦、山田 亮：
大規模シングルセル発現データを用いた細胞集団プロファイル全体の異同の解析.
第41回日本分子生物学会年会,
神奈川県横浜市,
2018/11
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2.
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安河内彦輝：
東アジア特異的な生活習慣病関連遺伝子の同定.
日本生理人類学会第78回大会,
東京,
2018/10
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3.
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川口 修治、徳増 玲太郎、日笠 幸一郎、高野 敦司、松田 文彦：
人工知能を用いたデータマイニングと全ゲノムデータ解析技術の融合によるメンデル遺伝性疾患の新規疾患遺伝子同定への試み.
日本人類遺伝学会第63回大会,
神奈川県横浜市,
2018/10
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4.
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川口 修治、日笠 幸一郎、清水 正和、山田 亮、松田 文彦：
次世代シークエンサーと国際データベースを用いた高効率・高精度なHLA遺伝子群の包括的タイピング技術の確立.
日本人類遺伝学会第63回大会,
神奈川県横浜市,
2018/10
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5.
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永田 美保、山田 崇弘、十川 麗美、馬場 遥香、川崎 秀徳、和田 敬仁、澤井 英明、瀬藤 和也、川口 喬久、日笠 幸一郎、中山 健夫、田原 康玄、松田 文彦、小杉 眞司：
一般地域住民における低ホスファターゼ症の未診断罹患者および非発症キャリアの研究：ながはまスタディ.
日本人類遺伝学会第63回大会,
神奈川県横浜市,
2018/10
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6.
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三澤計治, 三島英換, 大内基司, 長谷川嵩矩, 小島要, 河合洋介, 長崎正朗, 安西尚彦, 阿部高明, 山本雅之：
レアバリアントが尿酸値の失われた遺伝率のかなりの割合を説明する.
日本人類遺伝学会第63回大会,
神奈川県横浜市,
2018/10
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7.
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三澤計治, 三島英換, 大内基司, 長谷川嵩矩, 小島要, 河合洋介, 長崎正朗, 安西尚彦, 阿部高明, 山本雅之：
尿酸トランスポーター.
第１回トランスポーター研究会北部会,
北海道札幌市,
2018/12
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8.
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Kazuharu Misawa：
Phylogenetic trees and the sequential kernel association test (SKAT).
Special Symposium to celebrate over 50,000 citations of Saitou & Nei’s (1987) neighbor-joining method paper,
静岡県三島市,
2018/06
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