623 results on '"Tamiya, Gen"'
Search Results
2. Associations of combined genetic and lifestyle risks with hypertension and home hypertension
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Takase, Masato, Hirata, Takumi, Nakaya, Naoki, Nakamura, Tomohiro, Kogure, Mana, Hatanaka, Rieko, Nakaya, Kumi, Chiba, Ippei, Kanno, Ikumi, Nochioka, Kotaro, Tsuchiya, Naho, Narita, Akira, Metoki, Hirohito, Satoh, Michihiro, Obara, Taku, Ishikuro, Mami, Ohseto, Hisashi, Uruno, Akira, Kobayashi, Tomoko, Kodama, Eiichi N., Hamanaka, Yohei, Orui, Masatsugu, Ogishima, Soichi, Nagaie, Satoshi, Fuse, Nobuo, Sugawara, Junichi, Kuriyama, Shinichi, Tamiya, Gen, Hozawa, Atsushi, and Yamamoto, Masayuki
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- 2024
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3. Body mass index stratification optimizes polygenic prediction of type 2 diabetes in cross-biobank analyses
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Ojima, Takafumi, Namba, Shinichi, Suzuki, Ken, Yamamoto, Kenichi, Sonehara, Kyuto, Narita, Akira, Kamatani, Yoichiro, Tamiya, Gen, Yamamoto, Masayuki, Yamauchi, Toshimasa, Kadowaki, Takashi, and Okada, Yukinori
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- 2024
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4. Development of phenotyping algorithms for hypertensive disorders of pregnancy (HDP) and their application in more than 22,000 pregnant women
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Mizuno, Satoshi, Wagata, Maiko, Nagaie, Satoshi, Ishikuro, Mami, Obara, Taku, Tamiya, Gen, Kuriyama, Shinichi, Tanaka, Hiroshi, Yaegashi, Nobuo, Yamamoto, Masayuki, Sugawara, Junichi, and Ogishima, Soichi
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- 2024
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5. Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities
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Narumi, Satoshi, Nagasaki, Keisuke, Kiriya, Mitsuo, Uehara, Erika, Akiba, Kazuhisa, Tanase-Nakao, Kanako, Shimura, Kazuhiro, Abe, Kiyomi, Sugisawa, Chiho, Ishii, Tomohiro, Miyako, Kenichi, Hasegawa, Yukihiro, Maruo, Yoshihiro, Muroya, Koji, Watanabe, Natsuko, Nishihara, Eijun, Ito, Yuka, Kogai, Takahiko, Kameyama, Kaori, Nakabayashi, Kazuhiko, Hata, Kenichiro, Fukami, Maki, Shima, Hirohito, Kikuchi, Atsuo, Takayama, Jun, Tamiya, Gen, and Hasegawa, Tomonobu
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- 2024
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6. Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population
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Yaoita, Hisao, Kawai, Eiichiro, Takayama, Jun, Iwasawa, Shinya, Saijo, Naoya, Abiko, Masayuki, Suzuki, Kouta, Kimura, Masato, Ozawa, Akira, Tamiya, Gen, Kure, Shigeo, and Kikuchi, Atsuo
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- 2024
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7. Genetic Risk Stratification of Primary Open-Angle Glaucoma in Japanese Individuals
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Matsuda, Koichi, Yamanashi, Yuji, Furukawa, Yoichi, Morisaki, Takayuki, Okada, Yukinori, Murakami, Yoshinori, Muto, Kaori, Nagai, Akiko, Nakamura, Yusuke, Obara, Wataru, Yamaji, Ken, Takahashi, Kazuhisa, Asai, Satoshi, Takahashi, Yasuo, Higashiue, Shinichi, Kobayashi, Shuzo, Yamaguchi, Hiroki, Nagata, Yasunobu, Wakita, Satoshi, Nito, Chikako, Iwasaki, Yu-Ki, Murayama, Shigeo, Yoshimori, Kozo, Miki, Yoshio, Obata, Daisuke, Higashiyama, Masahiko, Masumoto, Akihide, Koga, Yoshinobu, Koretsune, Yukihiro, Aihara, Makoto, Sakata, Rei, Kashiwagi, Kenji, Mabuchi, Fumihiko, Kawase, Kazuhide, Iwata, Takeshi, Tsujikawa, Motokazu, Nishiguchi, Koji M., Akiyama, Masato, Tamiya, Gen, Fujiwara, Kohta, Shiga, Yukihiro, Yokoyama, Yu, Hashimoto, Kazuki, Sato, Masataka, Sato, Kota, Narita, Akira, Hashimoto, Sawako, Ueda, Emi, Furuta, Yoshihiko, Hata, Jun, Miyake, Masahiro, Ikeda, Hanako O., Suda, Kenji, Numa, Shogo, Mori, Yuki, Morino, Kazuya, Murakami, Yusuke, Shimokawa, Sakurako, Nakamura, Shun, Yawata, Nobuyo, Fujisawa, Kimihiko, Yamana, Satoshi, Mori, Kenichiro, Ikeda, Yasuhiro, Miyata, Kazunori, Mori, Keisuke, Ogino, Ken, Koyanagi, Yoshito, Kamatani, Yoichiro, Ninomiya, Toshiharu, Sonoda, Koh-Hei, and Nakazawa, Toru
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- 2024
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8. Early prediction of hypertensive disorders of pregnancy toward preventive early intervention
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Mizuno, Satoshi, Nagaie, Satoshi, Sugawara, Junichi, Tamiya, Gen, Obara, Taku, Ishikuro, Mami, Kuriyama, Shinichi, Yaegashi, Nobuo, Tanaka, Hiroshi, Yamamoto, Masayuki, and Ogishima, Soichi
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- 2024
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9. Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder
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Nishioka, Masaki, Takayama, Jun, Sakai, Naomi, Kazuno, An-a, Ishiwata, Mizuho, Ueda, Junko, Hayama, Takashi, Fujii, Kumiko, Someya, Toshiyuki, Kuriyama, Shinichi, Tamiya, Gen, Takata, Atsushi, and Kato, Tadafumi
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- 2023
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10. Genome-wide association study based on clustering by obesity-related variables uncovers a genetic architecture of obesity in the Japanese and the UK populations
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Takahashi, Ippei, Ohseto, Hisashi, Ueno, Fumihiko, Oonuma, Tomomi, Narita, Akira, Obara, Taku, Ishikuro, Mami, Murakami, Keiko, Noda, Aoi, Hozawa, Atsushi, Sugawara, Junichi, Tamiya, Gen, and Kuriyama, Shinichi
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- 2024
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11. Establishment of the early prediction models of low-birth-weight reveals influential genetic and environmental factors: a prospective cohort study
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Mizuno, Satoshi, Nagaie, Satoshi, Tamiya, Gen, Kuriyama, Shinichi, Obara, Taku, Ishikuro, Mami, Tanaka, Hiroshi, Kinoshita, Kengo, Sugawara, Junichi, Yamamoto, Masayuki, Yaegashi, Nobuo, and Ogishima, Soichi
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- 2023
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12. Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population
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Yaoita, Hisao, Kawai, Eiichiro, Takayama, Jun, Iwasawa, Shinya, Saijo, Naoya, Abiko, Masayuki, Suzuki, Kouta, Kimura, Masato, Ozawa, Akira, Tamiya, Gen, Kure, Shigeo, and Kikuchi, Atsuo
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- 2024
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13. Familial Paget’s disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27)
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Saito-Hakoda, Akiko, Kikuchi, Atsuo, Takahashi, Tadahisa, Yokoyama, Yu, Himori, Noriko, Adachi, Mika, Ikeda, Ryoukichi, Nomura, Yuri, Takayama, Jun, Kawashima, Junko, Katsuoka, Fumiki, Fujishima, Fumiyoshi, Yamaguchi, Takehiko, Ito, Akiyo, Hanita, Takushi, Kanno, Junko, Aizawa, Toshimi, Nakazawa, Toru, Kawase, Tetsuaki, Tamiya, Gen, Yamamoto, Masayuki, Fujiwara, Ikuma, and Kure, Shigeo
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- 2023
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14. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
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Gharahkhani, Puya, Jorgenson, Eric, Hysi, Pirro, Khawaja, Anthony P, Pendergrass, Sarah, Han, Xikun, Ong, Jue Sheng, Hewitt, Alex W, Segrè, Ayellet V, Rouhana, John M, Hamel, Andrew R, Igo, Robert P, Choquet, Helene, Qassim, Ayub, Josyula, Navya S, Cooke Bailey, Jessica N, Bonnemaijer, Pieter WM, Iglesias, Adriana, Siggs, Owen M, Young, Terri L, Vitart, Veronique, Thiadens, Alberta AHJ, Karjalainen, Juha, Uebe, Steffen, Melles, Ronald B, Nair, K Saidas, Luben, Robert, Simcoe, Mark, Amersinghe, Nishani, Cree, Angela J, Hohn, Rene, Poplawski, Alicia, Chen, Li Jia, Rong, Shi-Song, Aung, Tin, Vithana, Eranga Nishanthie, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Tamiya, Gen, Shiga, Yukihiro, Yamamoto, Masayuki, Nakazawa, Toru, Currant, Hannah, Birney, Ewan, Wang, Xin, Auton, Adam, Lupton, Michelle K, Martin, Nicholas G, Ashaye, Adeyinka, Olawoye, Olusola, Williams, Susan E, Akafo, Stephen, Ramsay, Michele, Hashimoto, Kazuki, Kamatani, Yoichiro, Akiyama, Masato, Momozawa, Yukihide, Foster, Paul J, Khaw, Peng T, Morgan, James E, Strouthidis, Nicholas G, Kraft, Peter, Kang, Jae H, Pang, Chi Pui, Pasutto, Francesca, Mitchell, Paul, Lotery, Andrew J, Palotie, Aarno, van Duijn, Cornelia, Haines, Jonathan L, Hammond, Chris, Pasquale, Louis R, Klaver, Caroline CW, Hauser, Michael, Khor, Chiea Chuen, Mackey, David A, Kubo, Michiaki, Cheng, Ching-Yu, Craig, Jamie E, MacGregor, Stuart, and Wiggs, Janey L
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NEIGHBORHOOD consortium ,ANZRAG consortium ,Biobank Japan project ,FinnGen study ,UK Biobank Eye and Vision Consortium ,GIGA study group ,and Me Research Team ,Humans ,Glaucoma ,Open-Angle ,Genetic Predisposition to Disease ,Genotype ,Polymorphism ,Single Nucleotide ,Asian Continental Ancestry Group ,European Continental Ancestry Group ,Genome-Wide Association Study ,Genetic Loci ,Glaucoma ,Open-Angle ,Polymorphism ,Single Nucleotide - Abstract
Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 previously unreported risk loci and confirming 83 loci that were previously known. The majority of loci have broadly consistent effects across European, Asian and African ancestries. Cross-ancestry data improve fine-mapping of causal variants for several loci. Integration of multiple lines of genetic evidence support the functional relevance of the identified POAG risk loci and highlight potential contributions of several genes to POAG pathogenesis, including SVEP1, RERE, VCAM1, ZNF638, CLIC5, SLC2A12, YAP1, MXRA5, and SMAD6. Several drug compounds targeting POAG risk genes may be potential glaucoma therapeutic candidates.
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- 2021
15. Genome-wide association study of the risk of chronic kidney disease and kidney-related traits in the Japanese population: J-Kidney-Biobank
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Sugawara, Yuka, Hirakawa, Yosuke, Nagasu, Hajime, Narita, Akira, Katayama, Akihiro, Wada, Jun, Shimizu, Miho, Wada, Takashi, Kitamura, Hiromasa, Nakano, Toshiaki, Yokoi, Hideki, Yanagita, Motoko, Goto, Shin, Narita, Ichiei, Koshiba, Seizo, Tamiya, Gen, Nangaku, Masaomi, Yamamoto, Masayuki, and Kashihara, Naoki
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- 2023
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16. Automated acquisition of explainable knowledge from unannotated histopathology images.
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Yamamoto, Yoichiro, Tsuzuki, Toyonori, Akatsuka, Jun, Ueki, Masao, Morikawa, Hiromu, Numata, Yasushi, Takahara, Taishi, Tsuyuki, Takuji, Tsutsumi, Kotaro, Nakazawa, Ryuto, Shimizu, Akira, Maeda, Ichiro, Tsuchiya, Shinichi, Kanno, Hiroyuki, Kondo, Yukihiro, Fukumoto, Manabu, Tamiya, Gen, Ueda, Naonori, and Kimura, Go
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Humans ,Neoplasm Recurrence ,Local ,ROC Curve ,Pathology ,Algorithms ,Knowledge ,Automation ,Image Processing ,Computer-Assisted ,Data Compression ,Cancer ,Urologic Diseases ,Bioengineering ,4.1 Discovery and preclinical testing of markers and technologies ,Detection ,screening and diagnosis - Abstract
Deep learning algorithms have been successfully used in medical image classification. In the next stage, the technology of acquiring explainable knowledge from medical images is highly desired. Here we show that deep learning algorithm enables automated acquisition of explainable features from diagnostic annotation-free histopathology images. We compare the prediction accuracy of prostate cancer recurrence using our algorithm-generated features with that of diagnosis by expert pathologists using established criteria on 13,188 whole-mount pathology images consisting of over 86 billion image patches. Our method not only reveals findings established by humans but also features that have not been recognized, showing higher accuracy than human in prognostic prediction. Combining both our algorithm-generated features and human-established criteria predicts the recurrence more accurately than using either method alone. We confirm robustness of our method using external validation datasets including 2276 pathology images. This study opens up fields of machine learning analysis for discovering uncharted knowledge.
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- 2019
17. Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct
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Kanno, Miyako, Suzuki, Mitsuyoshi, Tanikawa, Ken, Numakura, Chikahiko, Matsuzawa, Shu-ichi, Niihori, Tetsuya, Aoki, Yoko, Matsubara, Yoichi, Makino, Satoshi, Tamiya, Gen, Nakano, Satoshi, Funayama, Ryo, Shirota, Matsuyuki, Nakayama, Keiko, Mitsui, Tetsuo, and Hayasaka, Kiyoshi
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- 2022
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18. Illuminating Clues of Cancer Buried in Prostate MR Image: Deep Learning and Expert Approaches.
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Akatsuka, Jun, Yamamoto, Yoichiro, Sekine, Tetsuro, Numata, Yasushi, Morikawa, Hiromu, Tsutsumi, Kotaro, Yanagi, Masato, Endo, Yuki, Takeda, Hayato, Hayashi, Tatsuro, Ueki, Masao, Tamiya, Gen, Maeda, Ichiro, Fukumoto, Manabu, Shimizu, Akira, Tsuzuki, Toyonori, Kimura, Go, and Kondo, Yukihiro
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Humans ,Prostatic Neoplasms ,Magnetic Resonance Imaging ,Image Processing ,Computer-Assisted ,Aged ,Male ,Deep Learning ,MRI ,black box ,deep learning ,pathology ,prostate cancer ,Cancer ,Urologic Diseases ,Prostate Cancer ,Biomedical Imaging ,Aetiology ,2.1 Biological and endogenous factors ,Biochemistry and Cell Biology - Abstract
Deep learning algorithms have achieved great success in cancer image classification. However, it is imperative to understand the differences between the deep learning and human approaches. Using an explainable model, we aimed to compare the deep learning-focused regions of magnetic resonance (MR) images with cancerous locations identified by radiologists and pathologists. First, 307 prostate MR images were classified using a well-established deep neural network without locational information of cancers. Subsequently, we assessed whether the deep learning-focused regions overlapped the radiologist-identified targets. Furthermore, pathologists provided histopathological diagnoses on 896 pathological images, and we compared the deep learning-focused regions with the genuine cancer locations through 3D reconstruction of pathological images. The area under the curve (AUC) for MR images classification was sufficiently high (AUC = 0.90, 95% confidence interval 0.87-0.94). Deep learning-focused regions overlapped radiologist-identified targets by 70.5% and pathologist-identified cancer locations by 72.1%. Lymphocyte aggregation and dilated prostatic ducts were observed in non-cancerous regions focused by deep learning. Deep learning algorithms can achieve highly accurate image classification without necessarily identifying radiological targets or cancer locations. Deep learning may find clues that can help a clinical diagnosis even if the cancer is not visible.
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- 2019
19. A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
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Ramdas, Shweta, Judd, Jonathan, Graham, Sarah E., Kanoni, Stavroula, Wang, Yuxuan, Surakka, Ida, Wenz, Brandon, Clarke, Shoa L., Chesi, Alessandra, Wells, Andrew, Bhatti, Konain Fatima, Vedantam, Sailaja, Winkler, Thomas W., Locke, Adam E., Marouli, Eirini, Zajac, Greg J.M., Wu, Kuan-Han H., Ntalla, Ioanna, Hui, Qin, Klarin, Derek, Hilliard, Austin T., Wang, Zeyuan, Xue, Chao, Thorleifsson, Gudmar, Helgadottir, Anna, Gudbjartsson, Daniel F., Holm, Hilma, Olafsson, Isleifur, Hwang, Mi Yeong, Han, Sohee, Akiyama, Masato, Sakaue, Saori, Terao, Chikashi, Kanai, Masahiro, Zhou, Wei, Brumpton, Ben M., Rasheed, Humaira, Havulinna, Aki S., Veturi, Yogasudha, Pacheco, Jennifer Allen, Rosenthal, Elisabeth A., Lingren, Todd, Feng, QiPing, Kullo, Iftikhar J., Narita, Akira, Takayama, Jun, Martin, Hilary C., Hunt, Karen A., Trivedi, Bhavi, Haessler, Jeffrey, Giulianini, Franco, Bradford, Yuki, Miller, Jason E., Campbell, Archie, Lin, Kuang, Millwood, Iona Y., Rasheed, Asif, Hindy, George, Faul, Jessica D., Zhao, Wei, Weir, David R., Turman, Constance, Huang, Hongyan, Graff, Mariaelisa, Choudhury, Ananyo, Sengupta, Dhriti, Mahajan, Anubha, Brown, Michael R., Zhang, Weihua, Yu, Ketian, Schmidt, Ellen M., Pandit, Anita, Gustafsson, Stefan, Yin, Xianyong, Luan, Jian’an, Zhao, Jing-Hua, Matsuda, Fumihiko, Jang, Hye-Mi, Yoon, Kyungheon, Medina-Gomez, Carolina, Pitsillides, Achilleas, Hottenga, Jouke Jan, Wood, Andrew R., Ji, Yingji, Gao, Zishan, Haworth, Simon, Mitchell, Ruth E., Chai, Jin Fang, Aadahl, Mette, Bjerregaard, Anne A., Yao, Jie, Manichaikul, Ani, Lee, Wen-Jane, Hsiung, Chao Agnes, Warren, Helen R., Ramirez, Julia, Bork-Jensen, Jette, Kårhus, Line L., Goel, Anuj, Sabater-Lleal, Maria, Noordam, Raymond, Mauro, Pala, Matteo, Floris, McDaid, Aaron F., Marques-Vidal, Pedro, Wielscher, Matthias, Trompet, Stella, Sattar, Naveed, Møllehave, Line T., Munz, Matthias, Zeng, Lingyao, Huang, Jianfeng, Yang, Bin, Poveda, Alaitz, Kurbasic, Azra, Schönherr, Sebastian, Forer, Lukas, Scholz, Markus, Galesloot, Tessel E., Bradfield, Jonathan P., Ruotsalainen, Sanni E., Daw, E. Warwick, Zmuda, Joseph M., Mitchell, Jonathan S., Fuchsberger, Christian, Christensen, Henry, Brody, Jennifer A., Le, Phuong, Feitosa, Mary F., Wojczynski, Mary K., Hemerich, Daiane, Preuss, Michael, Mangino, Massimo, Christofidou, Paraskevi, Verweij, Niek, Benjamins, Jan W., Engmann, Jorgen, Noah, Tsao L., Verma, Anurag, Slieker, Roderick C., Lo, Ken Sin, Zilhao, Nuno R., Kleber, Marcus E., Delgado, Graciela E., Huo, Shaofeng, Ikeda, Daisuke D., Iha, Hiroyuki, Yang, Jian, Liu, Jun, Demirkan, Ayşe, Leonard, Hampton L., Marten, Jonathan, Emmel, Carina, Schmidt, Börge, Smyth, Laura J., Cañadas-Garre, Marisa, Wang, Chaolong, Nakatochi, Masahiro, Wong, Andrew, Hutri-Kähönen, Nina, Sim, Xueling, Xia, Rui, Huerta-Chagoya, Alicia, Fernandez-Lopez, Juan Carlos, Lyssenko, Valeriya, Nongmaithem, Suraj S., Sankareswaran, Alagu, Irvin, Marguerite R., Oldmeadow, Christopher, Kim, Han-Na, Ryu, Seungho, Timmers, Paul R.H.J., Arbeeva, Liubov, Dorajoo, Rajkumar, Lange, Leslie A., Prasad, Gauri, Lorés-Motta, Laura, Pauper, Marc, Long, Jirong, Li, Xiaohui, Theusch, Elizabeth, Takeuchi, Fumihiko, Spracklen, Cassandra N., Loukola, Anu, Bollepalli, Sailalitha, Warner, Sophie C., Wang, Ya Xing, Wei, Wen B., Nutile, Teresa, Ruggiero, Daniela, Sung, Yun Ju, Chen, Shufeng, Liu, Fangchao, Yang, Jingyun, Kentistou, Katherine A., Banas, Bernhard, Morgan, Anna, Meidtner, Karina, Bielak, Lawrence F., Smith, Jennifer A., Hebbar, Prashantha, Farmaki, Aliki-Eleni, Hofer, Edith, Lin, Maoxuan, Concas, Maria Pina, Vaccargiu, Simona, van der Most, Peter J., Pitkänen, Niina, Cade, Brian E., van der Laan, Sander W., Chitrala, Kumaraswamy Naidu, Weiss, Stefan, Bentley, Amy R., Doumatey, Ayo P., Adeyemo, Adebowale A., Lee, Jong Young, Petersen, Eva R.B., Nielsen, Aneta A., Choi, Hyeok Sun, Nethander, Maria, Freitag-Wolf, Sandra, Southam, Lorraine, Rayner, Nigel W., Wang, Carol A., Lin, Shih-Yi, Wang, Jun-Sing, Couture, Christian, Lyytikäinen, Leo-Pekka, Nikus, Kjell, Cuellar-Partida, Gabriel, Vestergaard, Henrik, Hidalgo, Bertha, Giannakopoulou, Olga, Cai, Qiuyin, Obura, Morgan O., van Setten, Jessica, He, Karen Y., Tang, Hua, Terzikhan, Natalie, Shin, Jae Hun, Jackson, Rebecca D., Reiner, Alexander P., Martin, Lisa Warsinger, Chen, Zhengming, Li, Liming, Kawaguchi, Takahisa, Thiery, Joachim, Bis, Joshua C., Launer, Lenore J., Li, Huaixing, Nalls, Mike A., Raitakari, Olli T., Ichihara, Sahoko, Wild, Sarah H., Nelson, Christopher P., Campbell, Harry, Jäger, Susanne, Nabika, Toru, Al-Mulla, Fahd, Niinikoski, Harri, Braund, Peter S., Kolcic, Ivana, Kovacs, Peter, Giardoglou, Tota, Katsuya, Tomohiro, de Kleijn, Dominique, de Borst, Gert J., Kim, Eung Kweon, Adams, Hieab H.H., Ikram, M. Arfan, Zhu, Xiaofeng, Asselbergs, Folkert W., Kraaijeveld, Adriaan O., Beulens, Joline W.J., Shu, Xiao-Ou, Rallidis, Loukianos S., Pedersen, Oluf, Hansen, Torben, Mitchell, Paul, Hewitt, Alex W., Kähönen, Mika, Pérusse, Louis, Bouchard, Claude, Tönjes, Anke, Ida Chen, Yii-Der, Pennell, Craig E., Mori, Trevor A., Lieb, Wolfgang, Franke, Andre, Ohlsson, Claes, Mellström, Dan, Cho, Yoon Shin, Lee, Hyejin, Yuan, Jian-Min, Koh, Woon-Puay, Rhee, Sang Youl, Woo, Jeong-Taek, Heid, Iris M., Stark, Klaus J., Zimmermann, Martina E., Völzke, Henry, Homuth, Georg, Evans, Michele K., Zonderman, Alan B., Polasek, Ozren, Pasterkamp, Gerard, Hoefer, Imo E., Redline, Susan, Pahkala, Katja, Oldehinkel, Albertine J., Snieder, Harold, Biino, Ginevra, Schmidt, Reinhold, Schmidt, Helena, Bandinelli, Stefania, Dedoussis, George, Thanaraj, Thangavel Alphonse, Peyser, Patricia A., Kato, Norihiro, Schulze, Matthias B., Girotto, Giorgia, Böger, Carsten A., Jung, Bettina, Joshi, Peter K., Bennett, David A., De Jager, Philip L., Lu, Xiangfeng, Mamakou, Vasiliki, Brown, Morris, Caulfield, Mark J., Munroe, Patricia B., Guo, Xiuqing, Ciullo, Marina, Jonas, Jost B., Samani, Nilesh J., Kaprio, Jaakko, Pajukanta, Päivi, Tusié-Luna, Teresa, Aguilar-Salinas, Carlos A., Adair, Linda S., Bechayda, Sonny Augustin, de Silva, H. Janaka, Wickremasinghe, Ananda R., Krauss, Ronald M., Wu, Jer-Yuarn, Zheng, Wei, den Hollander, Anneke I., Bharadwaj, Dwaipayan, Correa, Adolfo, Wilson, James G., Lind, Lars, Heng, Chew-Kiat, Nelson, Amanda E., Golightly, Yvonne M., Wilson, James F., Penninx, Brenda, Kim, Hyung-Lae, Attia, John, Scott, Rodney J., Rao, D.C., Arnett, Donna K., Walker, Mark, Scott, Laura J., Koistinen, Heikki A., Chandak, Giriraj R., Mercader, Josep M., Villalpando, Clicerio Gonzalez, Orozco, Lorena, Fornage, Myriam, Tai, E. Shyong, van Dam, Rob M., Lehtimäki, Terho, Chaturvedi, Nish, Yokota, Mitsuhiro, Liu, Jianjun, Reilly, Dermot F., McKnight, Amy Jayne, Kee, Frank, Jöckel, Karl-Heinz, McCarthy, Mark I., Palmer, Colin N.A., Vitart, Veronique, Hayward, Caroline, Simonsick, Eleanor, van Duijn, Cornelia M., Jin, Zi-Bing, Lu, Fan, Hishigaki, Haretsugu, Lin, Xu, März, Winfried, Gudnason, Vilmundur, Tardif, Jean-Claude, Lettre, Guillaume, t Hart, Leen M., Elders, Petra J.M., Rader, Daniel J., Damrauer, Scott M., Kumari, Meena, Kivimaki, Mika, van der Harst, Pim, Spector, Tim D., Loos, Ruth J.F., Province, Michael A., Parra, Esteban J., Cruz, Miguel, Psaty, Bruce M., Brandslund, Ivan, Pramstaller, Peter P., Rotimi, Charles N., Christensen, Kaare, Ripatti, Samuli, Widén, Elisabeth, Hakonarson, Hakon, Grant, Struan F.A., Kiemeney, Lambertus, de Graaf, Jacqueline, Loeffler, Markus, Kronenberg, Florian, Gu, Dongfeng, Erdmann, Jeanette, Schunkert, Heribert, Franks, Paul W., Linneberg, Allan, Jukema, J. Wouter, Khera, Amit V., Männikkö, Minna, Jarvelin, Marjo-Riitta, Kutalik, Zoltan, Francesco, Cucca, Mook-Kanamori, Dennis O., Willems van Dijk, Ko, Watkins, Hugh, Strachan, David P., Grarup, Niels, Sever, Peter, Poulter, Neil, Huey-Herng Sheu, Wayne, Rotter, Jerome I., Dantoft, Thomas M., Karpe, Fredrik, Neville, Matt J., Timpson, Nicholas J., Cheng, Ching-Yu, Wong, Tien-Yin, Khor, Chiea Chuen, Li, Hengtong, Sabanayagam, Charumathi, Peters, Annette, Gieger, Christian, Hattersley, Andrew T., Pedersen, Nancy L., Magnusson, Patrik K.E., Boomsma, Dorret I., de Geus, Eco J.C., Cupples, L. Adrienne, van Meurs, Joyce B.J., Ikram, Arfan, Ghanbari, Mohsen, Gordon-Larsen, Penny, Huang, Wei, Kim, Young Jin, Tabara, Yasuharu, Wareham, Nicholas J., Langenberg, Claudia, Zeggini, Eleftheria, Tuomilehto, Jaakko, Kuusisto, Johanna, Laakso, Markku, Ingelsson, Erik, Abecasis, Goncalo, Chambers, John C., Kooner, Jaspal S., de Vries, Paul S., Morrison, Alanna C., Hazelhurst, Scott, Ramsay, Michèle, North, Kari E., Daviglus, Martha, Kraft, Peter, Martin, Nicholas G., Whitfield, John B., Abbas, Shahid, Saleheen, Danish, Walters, Robin G., Holmes, Michael V., Black, Corri, Smith, Blair H., Baras, Aris, Justice, Anne E., Buring, Julie E., Ridker, Paul M., Chasman, Daniel I., Kooperberg, Charles, Tamiya, Gen, Yamamoto, Masayuki, van Heel, David A., Trembath, Richard C., Wei, Wei-Qi, Jarvik, Gail P., Namjou, Bahram, Hayes, M. Geoffrey, Ritchie, Marylyn D., Jousilahti, Pekka, Salomaa, Veikko, Hveem, Kristian, Åsvold, Bjørn Olav, Kubo, Michiaki, Kamatani, Yoichiro, Okada, Yukinori, Murakami, Yoshinori, Kim, Bong-Jo, Thorsteinsdottir, Unnur, Stefansson, Kari, Zhang, Jifeng, Chen, Y. Eugene, Ho, Yuk-Lam, Lynch, Julie A., Tsao, Philip S., Chang, Kyong-Mi, Cho, Kelly, O'Donnell, Christopher J., Gaziano, John M., Wilson, Peter, Mohlke, Karen L., Frayling, Timothy M., Hirschhorn, Joel N., Kathiresan, Sekar, Boehnke, Michael, Struan Grant, Natarajan, Pradeep, Sun, Yan V., Morris, Andrew P., Deloukas, Panos, Peloso, Gina, Assimes, Themistocles L., Willer, Cristen J., Zhu, Xiang, and Brown, Christopher D.
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- 2022
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20. Construction of a trio-based structural variation panel utilizing activated T lymphocytes and long-read sequencing technology
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Otsuki, Akihito, Okamura, Yasunobu, Ishida, Noriko, Tadaka, Shu, Takayama, Jun, Kumada, Kazuki, Kawashima, Junko, Taguchi, Keiko, Minegishi, Naoko, Kuriyama, Shinichi, Tamiya, Gen, Kinoshita, Kengo, Katsuoka, Fumiki, and Yamamoto, Masayuki
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- 2022
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21. Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
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Kanoni, Stavroula, Graham, Sarah E., Wang, Yuxuan, Surakka, Ida, Ramdas, Shweta, Zhu, Xiang, Clarke, Shoa L., Bhatti, Konain Fatima, Vedantam, Sailaja, Winkler, Thomas W., Locke, Adam E., Marouli, Eirini, Zajac, Greg J. M., Wu, Kuan-Han H., Ntalla, Ioanna, Hui, Qin, Klarin, Derek, Hilliard, Austin T., Wang, Zeyuan, Xue, Chao, Thorleifsson, Gudmar, Helgadottir, Anna, Gudbjartsson, Daniel F., Holm, Hilma, Olafsson, Isleifur, Hwang, Mi Yeong, Han, Sohee, Akiyama, Masato, Sakaue, Saori, Terao, Chikashi, Kanai, Masahiro, Zhou, Wei, Brumpton, Ben M., Rasheed, Humaira, Havulinna, Aki S., Veturi, Yogasudha, Pacheco, Jennifer Allen, Rosenthal, Elisabeth A., Lingren, Todd, Feng, QiPing, Kullo, Iftikhar J., Narita, Akira, Takayama, Jun, Martin, Hilary C., Hunt, Karen A., Trivedi, Bhavi, Haessler, Jeffrey, Giulianini, Franco, Bradford, Yuki, Miller, Jason E., Campbell, Archie, Lin, Kuang, Millwood, Iona Y., Rasheed, Asif, Hindy, George, Faul, Jessica D., Zhao, Wei, Weir, David R., Turman, Constance, Huang, Hongyan, Graff, Mariaelisa, Choudhury, Ananyo, Sengupta, Dhriti, Mahajan, Anubha, Brown, Michael R., Zhang, Weihua, Yu, Ketian, Schmidt, Ellen M., Pandit, Anita, Gustafsson, Stefan, Yin, Xianyong, Luan, Jian’an, Zhao, Jing-Hua, Matsuda, Fumihiko, Jang, Hye-Mi, Yoon, Kyungheon, Medina-Gomez, Carolina, Pitsillides, Achilleas, Hottenga, Jouke Jan, Wood, Andrew R., Ji, Yingji, Gao, Zishan, Haworth, Simon, Yousri, Noha A., Mitchell, Ruth E., Chai, Jin Fang, Aadahl, Mette, Bjerregaard, Anne A., Yao, Jie, Manichaikul, Ani, Hwu, Chii-Min, Hung, Yi-Jen, Warren, Helen R., Ramirez, Julia, Bork-Jensen, Jette, Kårhus, Line L., Goel, Anuj, Sabater-Lleal, Maria, Noordam, Raymond, Mauro, Pala, Matteo, Floris, McDaid, Aaron F., Marques-Vidal, Pedro, Wielscher, Matthias, Trompet, Stella, Sattar, Naveed, Møllehave, Line T., Munz, Matthias, Zeng, Lingyao, Huang, Jianfeng, Yang, Bin, Poveda, Alaitz, Kurbasic, Azra, Lamina, Claudia, Forer, Lukas, Scholz, Markus, Galesloot, Tessel E., Bradfield, Jonathan P., Ruotsalainen, Sanni E., Daw, EWarwick, Zmuda, Joseph M., Mitchell, Jonathan S., Fuchsberger, Christian, Christensen, Henry, Brody, Jennifer A., Vazquez-Moreno, Miguel, Feitosa, Mary F., Wojczynski, Mary K., Wang, Zhe, Preuss, Michael H., Mangino, Massimo, Christofidou, Paraskevi, Verweij, Niek, Benjamins, Jan W., Engmann, Jorgen, Tsao, Noah L., Verma, Anurag, Slieker, Roderick C., Lo, Ken Sin, Zilhao, Nuno R., Le, Phuong, Kleber, Marcus E., Delgado, Graciela E., Huo, Shaofeng, Ikeda, Daisuke D., Iha, Hiroyuki, Yang, Jian, Liu, Jun, Demirkan, Ayşe, Leonard, Hampton L., Marten, Jonathan, Frank, Mirjam, Schmidt, Börge, Smyth, Laura J., Cañadas-Garre, Marisa, Wang, Chaolong, Nakatochi, Masahiro, Wong, Andrew, Hutri-Kähönen, Nina, Sim, Xueling, Xia, Rui, Huerta-Chagoya, Alicia, Fernandez-Lopez, Juan Carlos, Lyssenko, Valeriya, Nongmaithem, Suraj S., Bayyana, Swati, Stringham, Heather M., Irvin, Marguerite R., Oldmeadow, Christopher, Kim, Han-Na, Ryu, Seungho, Timmers, Paul R. H. J., Arbeeva, Liubov, Dorajoo, Rajkumar, Lange, Leslie A., Prasad, Gauri, Lorés-Motta, Laura, Pauper, Marc, Long, Jirong, Li, Xiaohui, Theusch, Elizabeth, Takeuchi, Fumihiko, Spracklen, Cassandra N., Loukola, Anu, Bollepalli, Sailalitha, Warner, Sophie C., Wang, Ya Xing, Wei, Wen B., Nutile, Teresa, Ruggiero, Daniela, Sung, Yun Ju, Chen, Shufeng, Liu, Fangchao, Yang, Jingyun, Kentistou, Katherine A., Banas, Bernhard, Nardone, Giuseppe Giovanni, Meidtner, Karina, Bielak, Lawrence F., Smith, Jennifer A., Hebbar, Prashantha, Farmaki, Aliki-Eleni, Hofer, Edith, Lin, Maoxuan, Concas, Maria Pina, Vaccargiu, Simona, van der Most, Peter J., Pitkänen, Niina, Cade, Brian E., van der Laan, Sander W., Chitrala, Kumaraswamy Naidu, Weiss, Stefan, Bentley, Amy R., Doumatey, Ayo P., Adeyemo, Adebowale A., Lee, Jong Young, Petersen, Eva R. B., Nielsen, Aneta A., Choi, Hyeok Sun, Nethander, Maria, Freitag-Wolf, Sandra, Southam, Lorraine, Rayner, Nigel W., Wang, Carol A., Lin, Shih-Yi, Wang, Jun-Sing, Couture, Christian, Lyytikäinen, Leo-Pekka, Nikus, Kjell, Cuellar-Partida, Gabriel, Vestergaard, Henrik, Hidalgo, Bertha, Giannakopoulou, Olga, Cai, Qiuyin, Obura, Morgan O., van Setten, Jessica, Li, Xiaoyin, Liang, Jingjing, Tang, Hua, Terzikhan, Natalie, Shin, Jae Hun, Jackson, Rebecca D., Reiner, Alexander P., Martin, Lisa Warsinger, Chen, Zhengming, Li, Liming, Kawaguchi, Takahisa, Thiery, Joachim, Bis, Joshua C., Launer, Lenore J., Li, Huaixing, Nalls, Mike A., Raitakari, Olli T., Ichihara, Sahoko, Wild, Sarah H., Nelson, Christopher P., Campbell, Harry, Jäger, Susanne, Nabika, Toru, Al-Mulla, Fahd, Niinikoski, Harri, Braund, Peter S., Kolcic, Ivana, Kovacs, Peter, Giardoglou, Tota, Katsuya, Tomohiro, de Kleijn, Dominique, de Borst, Gert J., Kim, Eung Kweon, Adams, Hieab H. H., Ikram, M. Arfan, Zhu, Xiaofeng, Asselbergs, Folkert W., Kraaijeveld, Adriaan O., Beulens, Joline W. J., Shu, Xiao-Ou, Rallidis, Loukianos S., Pedersen, Oluf, Hansen, Torben, Mitchell, Paul, Hewitt, Alex W., Kähönen, Mika, Pérusse, Louis, Bouchard, Claude, Tönjes, Anke, Chen, Yii-Der Ida, Pennell, Craig E., Mori, Trevor A., Lieb, Wolfgang, Franke, Andre, Ohlsson, Claes, Mellström, Dan, Cho, Yoon Shin, Lee, Hyejin, Yuan, Jian-Min, Koh, Woon-Puay, Rhee, Sang Youl, Woo, Jeong-Taek, Heid, Iris M., Stark, Klaus J., Zimmermann, Martina E., Völzke, Henry, Homuth, Georg, Evans, Michele K., Zonderman, Alan B., Polasek, Ozren, Pasterkamp, Gerard, Hoefer, Imo E., Redline, Susan, Pahkala, Katja, Oldehinkel, Albertine J., Snieder, Harold, Biino, Ginevra, Schmidt, Reinhold, Schmidt, Helena, Bandinelli, Stefania, Dedoussis, George, Thanaraj, Thangavel Alphonse, Kardia, Sharon L. R., Peyser, Patricia A., Kato, Norihiro, Schulze, Matthias B., Girotto, Giorgia, Böger, Carsten A., Jung, Bettina, Joshi, Peter K., Bennett, David A., De Jager, Philip L., Lu, Xiangfeng, Mamakou, Vasiliki, Brown, Morris, Caulfield, Mark J., Munroe, Patricia B., Guo, Xiuqing, Ciullo, Marina, Jonas, Jost B., Samani, Nilesh J., Kaprio, Jaakko, Pajukanta, Päivi, Tusié-Luna, Teresa, Aguilar-Salinas, Carlos A., Adair, Linda S., Bechayda, Sonny Augustin, de Silva, H. Janaka, Wickremasinghe, Ananda R., Krauss, Ronald M., Wu, Jer-Yuarn, Zheng, Wei, Hollander, Anneke Iden, Bharadwaj, Dwaipayan, Correa, Adolfo, Wilson, James G., Lind, Lars, Heng, Chew-Kiat, Nelson, Amanda E., Golightly, Yvonne M., Wilson, James F., Penninx, Brenda, Kim, Hyung-Lae, Attia, John, Scott, Rodney J., Rao, D. C., Arnett, Donna K., Hunt, Steven C., Walker, Mark, Koistinen, Heikki A., Chandak, Giriraj R., Mercader, Josep M., Costanzo, Maria C., Jang, Dongkeun, Burtt, Noël P., Villalpando, Clicerio Gonzalez, Orozco, Lorena, Fornage, Myriam, Tai, EShyong, van Dam, Rob M., Lehtimäki, Terho, Chaturvedi, Nish, Yokota, Mitsuhiro, Liu, Jianjun, Reilly, Dermot F., McKnight, Amy Jayne, Kee, Frank, Jöckel, Karl-Heinz, McCarthy, Mark I., Palmer, Colin N. A., Vitart, Veronique, Hayward, Caroline, Simonsick, Eleanor, van Duijn, Cornelia M., Jin, Zi-Bing, Qu, Jia, Hishigaki, Haretsugu, Lin, Xu, März, Winfried, Gudnason, Vilmundur, Tardif, Jean-Claude, Lettre, Guillaume, Hart, Leen M.‘t, Elders, Petra J. M., Damrauer, Scott M., Kumari, Meena, Kivimaki, Mika, van der Harst, Pim, Spector, Tim D., Loos, Ruth J. F., Province, Michael A., Parra, Esteban J., Cruz, Miguel, Psaty, Bruce M., Brandslund, Ivan, Pramstaller, Peter P., Rotimi, Charles N., Christensen, Kaare, Ripatti, Samuli, Widén, Elisabeth, Hakonarson, Hakon, Grant, Struan F. A., Kiemeney, Lambertus A. L. M., de Graaf, Jacqueline, Loeffler, Markus, Kronenberg, Florian, Gu, Dongfeng, Erdmann, Jeanette, Schunkert, Heribert, Franks, Paul W., Linneberg, Allan, Jukema, J. Wouter, Khera, Amit V., Männikkö, Minna, Jarvelin, Marjo-Riitta, Kutalik, Zoltan, Francesco, Cucca, Mook-Kanamori, Dennis O., van Dijk, Ko Willems, Watkins, Hugh, Strachan, David P., Grarup, Niels, Sever, Peter, Poulter, Neil, Chuang, Lee-Ming, Rotter, Jerome I., Dantoft, Thomas M., Karpe, Fredrik, Neville, Matt J., Timpson, Nicholas J., Cheng, Ching-Yu, Wong, Tien-Yin, Khor, Chiea Chuen, Li, Hengtong, Sabanayagam, Charumathi, Peters, Annette, Gieger, Christian, Hattersley, Andrew T., Pedersen, Nancy L., Magnusson, Patrik K. E., Boomsma, Dorret I., Willemsen, Allegonda H. M., Cupples, LAdrienne, van Meurs, Joyce B. J., Ghanbari, Mohsen, Gordon-Larsen, Penny, Huang, Wei, Kim, Young Jin, Tabara, Yasuharu, Wareham, Nicholas J., Langenberg, Claudia, Zeggini, Eleftheria, Kuusisto, Johanna, Laakso, Markku, Ingelsson, Erik, Abecasis, Goncalo, Chambers, John C., Kooner, Jaspal S., de Vries, Paul S., Morrison, Alanna C., Hazelhurst, Scott, Ramsay, Michèle, North, Kari E., Daviglus, Martha, Kraft, Peter, Martin, Nicholas G., Whitfield, John B., Abbas, Shahid, Saleheen, Danish, Walters, Robin G., Holmes, Michael V., Black, Corri, Smith, Blair H., Baras, Aris, Justice, Anne E., Buring, Julie E., Ridker, Paul M., Chasman, Daniel I., Kooperberg, Charles, Tamiya, Gen, Yamamoto, Masayuki, van Heel, David A., Trembath, Richard C., Wei, Wei-Qi, Jarvik, Gail P., Namjou, Bahram, Hayes, M. Geoffrey, Ritchie, Marylyn D., Jousilahti, Pekka, Salomaa, Veikko, Hveem, Kristian, Åsvold, Bjørn Olav, Kubo, Michiaki, Kamatani, Yoichiro, Okada, Yukinori, Murakami, Yoshinori, Kim, Bong-Jo, Thorsteinsdottir, Unnur, Stefansson, Kari, Zhang, Jifeng, Chen, YEugene, Ho, Yuk-Lam, Lynch, Julie A., Rader, Daniel J., Tsao, Philip S., Chang, Kyong-Mi, Cho, Kelly, O’Donnell, Christopher J., Gaziano, John M., Wilson, Peter W. F., Frayling, Timothy M., Hirschhorn, Joel N., Kathiresan, Sekar, Mohlke, Karen L., Sun, Yan V., Morris, Andrew P., Boehnke, Michael, Brown, Christopher D., Natarajan, Pradeep, Deloukas, Panos, Willer, Cristen J., Assimes, Themistocles L., and Peloso, Gina M.
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- 2022
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22. Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals
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Shiga, Naomi, Yamaguchi-Kabata, Yumi, Igeta, Saori, Yasuda, Jun, Tadaka, Shu, Minato, Takamichi, Watanabe, Zen, Kanno, Junko, Tamiya, Gen, Fuse, Nobuo, Kinoshita, Kengo, Kure, Shigeo, Kondo, Akiko, Tachibana, Masahito, Yamamoto, Masayuki, Yaegashi, Nobuo, and Sugawara, Junichi
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- 2022
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23. Genetic Risk Stratification of Primary Open-Angle Glaucoma in Japanese Individuals.
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Akiyama, Masato, Tamiya, Gen, Fujiwara, Kohta, Shiga, Yukihiro, Yokoyama, Yu, Hashimoto, Kazuki, Sato, Masataka, Sato, Kota, Narita, Akira, Hashimoto, Sawako, Ueda, Emi, Furuta, Yoshihiko, Hata, Jun, Miyake, Masahiro, Ikeda, Hanako O., Suda, Kenji, Numa, Shogo, Mori, Yuki, Morino, Kazuya, and Murakami, Yusuke
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GENETIC risk score , *JAPANESE people , *RECEIVER operating characteristic curves , *OPEN-angle glaucoma , *GENOME-wide association studies - Abstract
To assess the impact of genetic risk estimation for primary open-angle glaucoma (POAG) in Japanese individuals. Cross-sectional analysis. Genetic risk scores (GRSs) were constructed based on a genome-wide association study (GWAS) of POAG in Japanese people. A total of 3625 Japanese individuals, including 1191 patients and 2434 controls (Japanese Tohoku), were used for the model selection. We also evaluated the discriminative accuracy of constructed GRSs in a dataset comprising 1034 patients and 1147 controls (the Japan Glaucoma Society Omics Group [JGS-OG] and the Genomic Research Committee of the Japanese Ophthalmological Society [GRC-JOS]) and 1900 participants from a population-based study (Hisayama Study). We evaluated 2 types of GRSs: polygenic risk scores using the pruning and thresholding procedure and a GRS using variants associated with POAG in the GWAS of the International Glaucoma Genetics Consortium (IGGC). We selected the model with the highest areas under the receiver operating characteristic curve (AUC). In the population-based study, we evaluated the correlations between GRS and ocular measurements. Proportion of patients with POAG after stratification according to the GRS. We found that a GRS using 98 variants, which showed genome-wide significance in the IGGC, showed the best discriminative accuracy (AUC, 0.65). In the Japanese Tohoku, the proportion of patients with POAG in the top 10% individuals was significantly higher than that in the lowest 10% (odds ratio [OR], 6.15; 95% confidence interval [CI], 4.35–8.71). In the JGS-OG and GRC-JOS, we confirmed similar impact of POAG GRS (AUC, 0.64; OR [top vs. bottom decile], 5.81; 95% CI, 3.79–9.01). In the population-based study, POAG prevalence was significantly higher in the top 20% individuals of the GRS compared with the bottom 20% (9.2% vs. 5.0%). However, the discriminative accuracy was low (AUC, 0.56). The POAG GRS was correlated positively with intraocular pressure (r = 0.08: P = 4.0 × 10–4) and vertical cup-to-disc ratio (r = 0.11; P = 4.0 × 10–6). The GRS showed moderate discriminative accuracy for POAG in the Japanese population. However, risk stratification in the general population showed relatively weak discriminative performance. Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article. [ABSTRACT FROM AUTHOR]
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- 2024
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24. Long‐term clinical observation of patients with heterozygous KIF1A variants.
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Kawashima, Aritomo, Kodama, Kaori, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Ikeda, Miki, Katata, Yu, Togashi, Noriko, Ohba, Chihiro, Imagawa, Eri, Iwama, Kazuhiro, Mizuguchi, Takeshi, Kitami, Masahiro, Aihara, Yu, Takayama, Jun, Tamiya, Gen, Kikuchi, Atsuo, Kure, Shigeo, Saitsu, Hirotomo, and Matsumoto, Naomichi
- Abstract
KIF1A‐related disorders (KRDs) encompass recessive and dominant variants with wide clinical variability. Recent genetic investigations have expanded the clinical phenotypes of heterozygous KIF1A variants. However, there have been a few long‐term observational studies of patients with heterozygous KIF1A variants. A retrospective chart review of consecutive patients diagnosed with spastic paraplegia at Miyagi Children's Hospital from 2016 to 2020 identified six patients with heterozygous KIF1A variants. To understand the long‐term changes in clinical symptoms, we examined these patients in terms of their characteristics, clinical symptoms, results of electrophysiological and neuroimaging studies, and genetic testing. The median follow‐up period was 30 years (4–44 years). This long‐term observational study showed that early developmental delay and equinus gait, or unsteady gait, are the first signs of disease onset, appearing with the commencement of independent walking. In addition, later age‐related progression was observed in spastic paraplegia, and the appearance of axonal neuropathy and reduced visual acuity were characteristic features of the late disease phenotype. Brain imaging showed age‐related progression of cerebellar atrophy and the appearance of hyperintensity of optic radiation on T2WI and FLAIR imaging. Long‐term follow‐up revealed a pattern of steady progression and a variety of clinical symptoms, including spastic paraplegia, peripheral neuropathy, reduced visual acuity, and some degree of cerebellar ataxia. Clinical variability between patients was observed to some extent, and therefore, further studies are required to determine the phenotype–genotype correlation. [ABSTRACT FROM AUTHOR]
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- 2024
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25. A fine‐scale genetic map of the Japanese population.
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Takayama, Jun, Makino, Satoshi, Funayama, Takamitsu, Ueki, Masao, Narita, Akira, Murakami, Keiko, Orui, Masatsugu, Ishikuro, Mami, Obara, Taku, Kuriyama, Shinichi, Yamamoto, Masayuki, and Tamiya, Gen
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JAPANESE people ,GENE mapping ,HAPLOTYPES ,LINKAGE disequilibrium ,GENOTYPES - Abstract
Genetic maps are fundamental resources for linkage and association studies. A fine‐scale genetic map can be constructed by inferring historical recombination events from the genome‐wide structure of linkage disequilibrium—a non‐random association of alleles among loci—by using population‐scale sequencing data. We constructed a fine‐scale genetic map and identified recombination hotspots from 10 092 551 bi‐allelic high‐quality autosomal markers segregating among 150 unrelated Japanese individuals whose genotypes were determined by high‐coverage (30×) whole‐genome sequencing, and the genotype quality was carefully controlled by using their parents' and offspring's genotypes. The pedigree information was also utilized for haplotype phasing. The resulting genome‐wide recombination rate profiles were concordant with those of the worldwide population on a broad scale, and the resolution was much improved. We identified 9487 recombination hotspots and confirmed the enrichment of previously known motifs in the hotspots. Moreover, we demonstrated that the Japanese genetic map improved the haplotype phasing and genotype imputation accuracy for the Japanese population. The construction of a population‐specific genetic map will help make genetics research more accurate. [ABSTRACT FROM AUTHOR]
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- 2024
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26. The power of genetic diversity in genome-wide association studies of lipids
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Graham, Sarah E., Clarke, Shoa L., Wu, Kuan-Han H., Kanoni, Stavroula, Zajac, Greg J. M., Ramdas, Shweta, Surakka, Ida, Ntalla, Ioanna, Vedantam, Sailaja, Winkler, Thomas W., Locke, Adam E., Marouli, Eirini, Hwang, Mi Yeong, Han, Sohee, Narita, Akira, Choudhury, Ananyo, Bentley, Amy R., Ekoru, Kenneth, Verma, Anurag, Trivedi, Bhavi, Martin, Hilary C., Hunt, Karen A., Hui, Qin, Klarin, Derek, Zhu, Xiang, Thorleifsson, Gudmar, Helgadottir, Anna, Gudbjartsson, Daniel F., Holm, Hilma, Olafsson, Isleifur, Akiyama, Masato, Sakaue, Saori, Terao, Chikashi, Kanai, Masahiro, Zhou, Wei, Brumpton, Ben M., Rasheed, Humaira, Ruotsalainen, Sanni E., Havulinna, Aki S., Veturi, Yogasudha, Feng, QiPing, Rosenthal, Elisabeth A., Lingren, Todd, Pacheco, Jennifer Allen, Pendergrass, Sarah A., Haessler, Jeffrey, Giulianini, Franco, Bradford, Yuki, Miller, Jason E., Campbell, Archie, Lin, Kuang, Millwood, Iona Y., Hindy, George, Rasheed, Asif, Faul, Jessica D., Zhao, Wei, Weir, David R., Turman, Constance, Huang, Hongyan, Graff, Mariaelisa, Mahajan, Anubha, Brown, Michael R., Zhang, Weihua, Yu, Ketian, Schmidt, Ellen M., Pandit, Anita, Gustafsson, Stefan, Yin, Xianyong, Luan, Jian’an, Zhao, Jing-Hua, Matsuda, Fumihiko, Jang, Hye-Mi, Yoon, Kyungheon, Medina-Gomez, Carolina, Pitsillides, Achilleas, Hottenga, Jouke Jan, Willemsen, Gonneke, Wood, Andrew R., Ji, Yingji, Gao, Zishan, Haworth, Simon, Mitchell, Ruth E., Chai, Jin Fang, Aadahl, Mette, Yao, Jie, Manichaikul, Ani, Warren, Helen R., Ramirez, Julia, Bork-Jensen, Jette, Kårhus, Line L., Goel, Anuj, Sabater-Lleal, Maria, Noordam, Raymond, Sidore, Carlo, Fiorillo, Edoardo, McDaid, Aaron F., Marques-Vidal, Pedro, Wielscher, Matthias, Trompet, Stella, Sattar, Naveed, Møllehave, Line T., Thuesen, Betina H., Munz, Matthias, Zeng, Lingyao, Huang, Jianfeng, Yang, Bin, Poveda, Alaitz, Kurbasic, Azra, Lamina, Claudia, Forer, Lukas, Scholz, Markus, Galesloot, Tessel E., Bradfield, Jonathan P., Daw, E. Warwick, Zmuda, Joseph M., Mitchell, Jonathan S., Fuchsberger, Christian, Christensen, Henry, Brody, Jennifer A., Feitosa, Mary F., Wojczynski, Mary K., Preuss, Michael, Mangino, Massimo, Christofidou, Paraskevi, Verweij, Niek, Benjamins, Jan W., Engmann, Jorgen, Kember, Rachel L., Slieker, Roderick C., Lo, Ken Sin, Zilhao, Nuno R., Le, Phuong, Kleber, Marcus E., Delgado, Graciela E., Huo, Shaofeng, Ikeda, Daisuke D., Iha, Hiroyuki, Yang, Jian, Liu, Jun, Leonard, Hampton L., Marten, Jonathan, Schmidt, Börge, Arendt, Marina, Smyth, Laura J., Cañadas-Garre, Marisa, Wang, Chaolong, Nakatochi, Masahiro, Wong, Andrew, Hutri-Kähönen, Nina, Sim, Xueling, Xia, Rui, Huerta-Chagoya, Alicia, Fernandez-Lopez, Juan Carlos, Lyssenko, Valeriya, Ahmed, Meraj, Jackson, Anne U., Yousri, Noha A., Irvin, Marguerite R., Oldmeadow, Christopher, Kim, Han-Na, Ryu, Seungho, Timmers, Paul R. H. J., Arbeeva, Liubov, Dorajoo, Rajkumar, Lange, Leslie A., Chai, Xiaoran, Prasad, Gauri, Lorés-Motta, Laura, Pauper, Marc, Long, Jirong, Li, Xiaohui, Theusch, Elizabeth, Takeuchi, Fumihiko, Spracklen, Cassandra N., Loukola, Anu, Bollepalli, Sailalitha, Warner, Sophie C., Wang, Ya Xing, Wei, Wen B., Nutile, Teresa, Ruggiero, Daniela, Sung, Yun Ju, Hung, Yi-Jen, Chen, Shufeng, Liu, Fangchao, Yang, Jingyun, Kentistou, Katherine A., Gorski, Mathias, Brumat, Marco, Meidtner, Karina, Bielak, Lawrence F., Smith, Jennifer A., Hebbar, Prashantha, Farmaki, Aliki-Eleni, Hofer, Edith, Lin, Maoxuan, Xue, Chao, Zhang, Jifeng, Concas, Maria Pina, Vaccargiu, Simona, van der Most, Peter J., Pitkänen, Niina, Cade, Brian E., Lee, Jiwon, van der Laan, Sander W., Chitrala, Kumaraswamy Naidu, Weiss, Stefan, Zimmermann, Martina E., Lee, Jong Young, Choi, Hyeok Sun, Nethander, Maria, Freitag-Wolf, Sandra, Southam, Lorraine, Rayner, Nigel W., Wang, Carol A., Lin, Shih-Yi, Wang, Jun-Sing, Couture, Christian, Lyytikäinen, Leo-Pekka, Nikus, Kjell, Cuellar-Partida, Gabriel, Vestergaard, Henrik, Hildalgo, Bertha, Giannakopoulou, Olga, Cai, Qiuyin, Obura, Morgan O., van Setten, Jessica, Li, Xiaoyin, Schwander, Karen, Terzikhan, Natalie, Shin, Jae Hun, Jackson, Rebecca D., Reiner, Alexander P., Martin, Lisa Warsinger, Chen, Zhengming, Li, Liming, Highland, Heather M., Young, Kristin L., Kawaguchi, Takahisa, Thiery, Joachim, Bis, Joshua C., Nadkarni, Girish N., Launer, Lenore J., Li, Huaixing, Nalls, Mike A., Raitakari, Olli T., Ichihara, Sahoko, Wild, Sarah H., Nelson, Christopher P., Campbell, Harry, Jäger, Susanne, Nabika, Toru, Al-Mulla, Fahd, Niinikoski, Harri, Braund, Peter S., Kolcic, Ivana, Kovacs, Peter, Giardoglou, Tota, Katsuya, Tomohiro, Bhatti, Konain Fatima, de Kleijn, Dominique, de Borst, Gert J., Kim, Eung Kweon, Adams, Hieab H. H., Ikram, M. Arfan, Zhu, Xiaofeng, Asselbergs, Folkert W., Kraaijeveld, Adriaan O., Beulens, Joline W. J., Shu, Xiao-Ou, Rallidis, Loukianos S., Pedersen, Oluf, Hansen, Torben, Mitchell, Paul, Hewitt, Alex W., Kähönen, Mika, Pérusse, Louis, Bouchard, Claude, Tönjes, Anke, Chen, Yii-Der Ida, Pennell, Craig E., Mori, Trevor A., Lieb, Wolfgang, Franke, Andre, Ohlsson, Claes, Mellström, Dan, Cho, Yoon Shin, Lee, Hyejin, Yuan, Jian-Min, Koh, Woon-Puay, Rhee, Sang Youl, Woo, Jeong-Taek, Heid, Iris M., Stark, Klaus J., Völzke, Henry, Homuth, Georg, Evans, Michele K., Zonderman, Alan B., Polasek, Ozren, Pasterkamp, Gerard, Hoefer, Imo E., Redline, Susan, Pahkala, Katja, Oldehinkel, Albertine J., Snieder, Harold, Biino, Ginevra, Schmidt, Reinhold, Schmidt, Helena, Chen, Y. Eugene, Bandinelli, Stefania, Dedoussis, George, Thanaraj, Thangavel Alphonse, Kardia, Sharon L. R., Kato, Norihiro, Schulze, Matthias B., Girotto, Giorgia, Jung, Bettina, Böger, Carsten A., Joshi, Peter K., Bennett, David A., De Jager, Philip L., Lu, Xiangfeng, Mamakou, Vasiliki, Brown, Morris, Caulfield, Mark J., Munroe, Patricia B., Guo, Xiuqing, Ciullo, Marina, Jonas, Jost B., Samani, Nilesh J., Kaprio, Jaakko, Pajukanta, Päivi, Adair, Linda S., Bechayda, Sonny Augustin, de Silva, H. Janaka, Wickremasinghe, Ananda R., Krauss, Ronald M., Wu, Jer-Yuarn, Zheng, Wei, den Hollander, Anneke I., Bharadwaj, Dwaipayan, Correa, Adolfo, Wilson, James G., Lind, Lars, Heng, Chew-Kiat, Nelson, Amanda E., Golightly, Yvonne M., Wilson, James F., Penninx, Brenda, Kim, Hyung-Lae, Attia, John, Scott, Rodney J., Rao, D. C., Arnett, Donna K., Hunt, Steven C., Walker, Mark, Koistinen, Heikki A., Chandak, Giriraj R., Yajnik, Chittaranjan S., Mercader, Josep M., Tusié-Luna, Teresa, Aguilar-Salinas, Carlos A., Villalpando, Clicerio Gonzalez, Orozco, Lorena, Fornage, Myriam, Tai, E. Shyong, van Dam, Rob M., Lehtimäki, Terho, Chaturvedi, Nish, Yokota, Mitsuhiro, Liu, Jianjun, Reilly, Dermot F., McKnight, Amy Jayne, Kee, Frank, Jöckel, Karl-Heinz, McCarthy, Mark I., Palmer, Colin N. A., Vitart, Veronique, Hayward, Caroline, Simonsick, Eleanor, van Duijn, Cornelia M., Lu, Fan, Qu, Jia, Hishigaki, Haretsugu, Lin, Xu, März, Winfried, Parra, Esteban J., Cruz, Miguel, Gudnason, Vilmundur, Tardif, Jean-Claude, Lettre, Guillaume, ’t Hart, Leen M., Elders, Petra J. M., Damrauer, Scott M., Kumari, Meena, Kivimaki, Mika, van der Harst, Pim, Spector, Tim D., Loos, Ruth J. F., Province, Michael A., Psaty, Bruce M., Brandslund, Ivan, Pramstaller, Peter P., Christensen, Kaare, Ripatti, Samuli, Widén, Elisabeth, Hakonarson, Hakon, Grant, Struan F. A., Kiemeney, Lambertus A. L. M., de Graaf, Jacqueline, Loeffler, Markus, Kronenberg, Florian, Gu, Dongfeng, Erdmann, Jeanette, Schunkert, Heribert, Franks, Paul W., Linneberg, Allan, Jukema, J. Wouter, Khera, Amit V., Männikkö, Minna, Jarvelin, Marjo-Riitta, Kutalik, Zoltan, Cucca, Francesco, Mook-Kanamori, Dennis O., van Dijk, Ko Willems, Watkins, Hugh, Strachan, David P., Grarup, Niels, Sever, Peter, Poulter, Neil, Rotter, Jerome I., Dantoft, Thomas M., Karpe, Fredrik, Neville, Matt J., Timpson, Nicholas J., Cheng, Ching-Yu, Wong, Tien-Yin, Khor, Chiea Chuen, Sabanayagam, Charumathi, Peters, Annette, Gieger, Christian, Hattersley, Andrew T., Pedersen, Nancy L., Magnusson, Patrik K. E., Boomsma, Dorret I., de Geus, Eco J. C., Cupples, L. Adrienne, van Meurs, Joyce B. J., Ghanbari, Mohsen, Gordon-Larsen, Penny, Huang, Wei, Kim, Young Jin, Tabara, Yasuharu, Wareham, Nicholas J., Langenberg, Claudia, Zeggini, Eleftheria, Kuusisto, Johanna, Laakso, Markku, Ingelsson, Erik, Abecasis, Goncalo, Chambers, John C., Kooner, Jaspal S., de Vries, Paul S., Morrison, Alanna C., North, Kari E., Daviglus, Martha, Kraft, Peter, Martin, Nicholas G., Whitfield, John B., Abbas, Shahid, Saleheen, Danish, Walters, Robin G., Holmes, Michael V., Black, Corri, Smith, Blair H., Justice, Anne E., Baras, Aris, Buring, Julie E., Ridker, Paul M., Chasman, Daniel I., Kooperberg, Charles, Wei, Wei-Qi, Jarvik, Gail P., Namjou, Bahram, Hayes, M. Geoffrey, Ritchie, Marylyn D., Jousilahti, Pekka, Salomaa, Veikko, Hveem, Kristian, Åsvold, Bjørn Olav, Kubo, Michiaki, Kamatani, Yoichiro, Okada, Yukinori, Murakami, Yoshinori, Thorsteinsdottir, Unnur, Stefansson, Kari, Ho, Yuk-Lam, Lynch, Julie A., Rader, Daniel J., Tsao, Philip S., Chang, Kyong-Mi, Cho, Kelly, O’Donnell, Christopher J., Gaziano, John M., Wilson, Peter, Rotimi, Charles N., Hazelhurst, Scott, Ramsay, Michèle, Trembath, Richard C., van Heel, David A., Tamiya, Gen, Yamamoto, Masayuki, Kim, Bong-Jo, Mohlke, Karen L., Frayling, Timothy M., Hirschhorn, Joel N., Kathiresan, Sekar, Boehnke, Michael, Natarajan, Pradeep, Peloso, Gina M., Brown, Christopher D., Morris, Andrew P., Assimes, Themistocles L., Deloukas, Panos, Sun, Yan V., and Willer, Cristen J.
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- 2021
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27. Genetic determinants of centenarian longevity, as quantified by the 'CentPGS' score, are associated with a lower risk of multiple age-related diseases and a longer healthspan.
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Sasaki, Takashi, primary, Tadaka, Shu, additional, Hirata, Takumi, additional, Nishimoto, Yoshinori, additional, Shikimoto, Ryo, additional, Abe, Yukiko, additional, Shiohama, Aiko, additional, Shirota, Matsuyuki, additional, Motoike, Ikuko, additional, Tamiya, Gen, additional, Kinoshita, Kengo, additional, Yamamoto, Masayuki, additional, Latysheva, Natasha, additional, Ledsam, Joseph, additional, Kayama, Hiroshi, additional, Momozawa, Yukihide, additional, Kubo, Michiaki, additional, Inoue, Ituro, additional, Ikeuchi, Takeshi, additional, Mori, Hiroshi, additional, Takebayashi, Toru, additional, Okano, Hideyuki, additional, Suematsu, Makoto, additional, Kosaki, Kenjiro, additional, Hirose, Nobuyoshi, additional, and Arai, Yasumichi, additional
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- 2024
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28. Risk Factors, Prognosis, Influence on the Offspring, and Genetic Architecture of Perinatal Depression Classified Based on the Depressive Symptom Trajectory
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Ohseto, Hisashi, primary, Takahashi, Ippei, additional, Narita, Akira, additional, Obara, Taku, additional, Ishikuro, Mami, additional, Kobayashi, Natsuko, additional, Kikuchi, Saya, additional, Li, Xue, additional, Noda, Aoi, additional, Murakami, Keiko, additional, Tamiya, Gen, additional, Sugawara, Junichi, additional, Tomita, Hiroaki, additional, and Kuriyama, Shinichi, additional
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- 2024
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29. Case Report: Identification of a CARD8 variant in all three patients with PFAPA syndrome complicated with Kawasaki disease
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Nakamura, Haruhiko, primary, Kikuchi, Atsuo, additional, Sakai, Hideyuki, additional, Kamimura, Miki, additional, Watanabe, Yohei, additional, Onuma, Ryoichi, additional, Takayama, Jun, additional, Tamiya, Gen, additional, Mashimo, Yoichi, additional, Ebata, Ryota, additional, Hamada, Hiromichi, additional, Suenaga, Tomohiro, additional, Onouchi, Yoshihiro, additional, and Kumaki, Satoru, additional
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- 2024
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30. ALOX12 mutation in a family with dominantly inherited bleeding diathesis
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Mitsui, Tetsuo, Makino, Satoshi, Tamiya, Gen, Sato, Hiroko, Kawakami, Yuki, Takahashi, Yoshitaka, Meguro, Toru, Izumino, Hiroko, Sudo, Yosuke, Norota, Ikuo, Ishii, Kuniaki, and Hayasaka, Kiyoshi
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- 2021
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31. Preeclampsia prediction with maternal and paternal polygenic risk scores: the TMM BirThree Cohort Study
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Ohseto, Hisashi, primary, Ishikuro, Mami, additional, Obara, Taku, additional, Narita, Akira, additional, Takahashi, Ippei, additional, Shinoda, Genki, additional, Noda, Aoi, additional, Murakami, Keiko, additional, Orui, Masatsugu, additional, Iwama, Noriyuki, additional, Kikuya, Masahiro, additional, Metoki, Hirohito, additional, Sugawara, Junichi, additional, Tamiya, Gen, additional, and Kuriyama, Shinichi, additional
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- 2024
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32. Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report
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Inotani, Toshiki, primary, Horaguchi, Akira, additional, Morishita, Yuko, additional, Yoshida, Ayuko, additional, Otomo, Misaki, additional, Suzuki, Makoto, additional, Inui, Takehiko, additional, Okubo, Yukimune, additional, Komatsu, Shigemasa, additional, Mizuno, Chika, additional, Takahashi, Yuko, additional, Ochiai, Tatsuhiro, additional, Kinjo, Takeshi, additional, Asato, Takashi, additional, Takayama, Jun, additional, Tamiya, Gen, additional, Saijo, Naoya, additional, Kikuchi, Atsuo, additional, and Haginoya, Kazuhiro, additional
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- 2024
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33. Study Profile of the Tsuruoka Metabolomics Cohort Study (TMCS)
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Harada, Sei, primary, Iida, Miho, additional, Miyagawa, Naoko, additional, Hirata, Aya, additional, Kuwabara, Kazuyo, additional, Matsumoto, Minako, additional, Okamura, Tomonori, additional, Edagawa, Shun, additional, Kawada, Yoko, additional, Miyake, Atsuko, additional, Toki, Ryota, additional, Akiyama, Miki, additional, Kawai, Atsuki, additional, Sugiyama, Daisuke, additional, Sato, Yasunori, additional, Takemura, Ryo, additional, Fukai, Kota, additional, Ishibashi, Yoshiki, additional, Kato, Suzuka, additional, Kurihara, Ayako, additional, Sata, Mizuki, additional, Shibuki, Takuma, additional, Takeuchi, Ayano, additional, Kohsaka, Shun, additional, Sawano, Mitsuaki, additional, Shoji, Satoshi, additional, Izawa, Yoshikane, additional, Katsumata, Masahiro, additional, Oki, Koichi, additional, Takahashi, Shinichi, additional, Takizawa, Tsubasa, additional, Maruya, Hiroshi, additional, Nishiwaki, Yuji, additional, Kawasaki, Ryo, additional, Hirayama, Akiyoshi, additional, Ishikawa, Takamasa, additional, Saito, Rintaro, additional, Sato, Asako, additional, Soga, Tomoyoshi, additional, Sugimoto, Masahiro, additional, Tomita, Masaru, additional, Komaki, Shohei, additional, Ohmomo, Hideki, additional, Ono, Kanako, additional, Otsuka-Yamasaki, Yayoi, additional, Shimizu, Atsushi, additional, Sutoh, Yoichi, additional, Hozawa, Atsushi, additional, Kinoshita, Kengo, additional, Koshiba, Seizo, additional, Kumada, Kazuki, additional, Ogishima, Soichi, additional, Sakurai-Yageta, Mika, additional, Tamiya, Gen, additional, and Takebayashi, Toru, additional
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- 2024
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34. Artificial intelligence powered statistical genetics in biobanks
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Narita, Akira, Ueki, Masao, and Tamiya, Gen
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- 2021
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35. Machine Learning of Histopathological Images Predicts Recurrences of Resected Pancreatic Ductal Adenocarcinoma With Adjuvant Treatment
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Yamaguchi, Ruri, primary, Morikawa, Hiromu, additional, Akatsuka, Jun, additional, Numata, Yasushi, additional, Noguchi, Aya, additional, Kokumai, Takashi, additional, Ishida, Masaharu, additional, Mizuma, Masamichi, additional, Nakagawa, Kei, additional, Unno, Michiaki, additional, Miyake, Akimitsu, additional, Tamiya, Gen, additional, Yamamoto, Yoichiro, additional, and Furukawa, Toru, additional
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- 2023
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36. Influence of Diabetes Family History on the Associations of Combined Genetic and Lifestyle Risks with Diabetes in the Tohoku Medical Megabank Community-Based Cohort Study
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Takase, Masato, primary, Nakaya, Naoki, additional, Nakamura, Tomohiro, additional, Kogure, Mana, additional, Hatanaka, Rieko, additional, Nakaya, Kumi, additional, Chiba, Ippei, additional, Kanno, Ikumi, additional, Nochioka, Kotaro, additional, Tsuchiya, Naho, additional, Hirata, Takumi, additional, Narita, Akira, additional, Obara, Taku, additional, Ishikuro, Mami, additional, Uruno, Akira, additional, Kobayashi, Tomoko, additional, N Kodama, Eiichi, additional, Hamanaka, Yohei, additional, Orui, Masatsugu, additional, Ogishima, Soichi, additional, Nagaie, Satoshi, additional, Fuse, Nobuo, additional, Sugawara, Junichi, additional, Kuriyama, Shinichi, additional, Tsuji, Ichiro, additional, Tamiya, Gen, additional, Hozawa, Atsushi, additional, and Yamamoto, Masayuki, additional
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- 2023
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37. GWAS with principal component analysis identifies a gene comprehensively controlling rice architecture
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Yano, Kenji, Morinaka, Yoichi, Wang, Fanmiao, Huang, Peng, Takehara, Sayaka, Hirai, Takaaki, Ito, Aya, Koketsu, Eriko, Kawamura, Mayuko, Kotake, Kunihiko, Yoshida, Shinya, Endo, Masaki, Tamiya, Gen, Kitano, Hidemi, Ueguchi-Tanaka, Miyako, Hirano, Ko, and Matsuoka, Makoto
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- 2019
38. dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project
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Ogishima, Soichi, Nagaie, Satoshi, Mizuno, Satoshi, Ishiwata, Ryosuke, Iida, Keita, Shimokawa, Kazuro, Takai-Igarashi, Takako, Nakamura, Naoki, Nagase, Sachiko, Nakamura, Tomohiro, Tsuchiya, Naho, Nakaya, Naoki, Murakami, Keiko, Ueno, Fumihiko, Onuma, Tomomi, Ishikuro, Mami, Obara, Taku, Mugikura, Shunji, Tomita, Hiroaki, Uruno, Akira, Kobayashi, Tomoko, Tsuboi, Akito, Tadaka, Shu, Katsuoka, Fumiki, Narita, Akira, Sakurai, Mika, Makino, Satoshi, Tamiya, Gen, Aoki, Yuichi, Shimizu, Ritsuko, Motoike, Ikuko N., Koshiba, Seizo, Minegishi, Naoko, Kumada, Kazuki, Nobukuni, Takahiro, Suzuki, Kichiya, Danjoh, Inaho, Nagami, Fuji, Tanno, Kozo, Ohmomo, Hideki, Asahi, Koichi, Shimizu, Atsushi, Hozawa, Atsushi, Kuriyama, Shinichi, Fuse, Nobuo, Tominaga, Teiji, Kure, Shigeo, Yaegashi, Nobuo, Kinoshita, Kengo, Sasaki, Makoto, Tanaka, Hiroshi, and Yamamoto, Masayuki
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- 2021
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39. Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals
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Nagaoka, Shinichi, Yamaguchi-Kabata, Yumi, Shiga, Naomi, Tachibana, Masahito, Yasuda, Jun, Tadaka, Shu, Tamiya, Gen, Fuse, Nobuo, Kinoshita, Kengo, Kure, Shigeo, Murotsuki, Jun, Yamamoto, Masayuki, Yaegashi, Nobuo, and Sugawara, Junichi
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- 2021
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40. Facial UV photo imaging for skin pigmentation assessment using conditional generative adversarial networks
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Kojima, Kaname, Shido, Kosuke, Tamiya, Gen, Yamasaki, Kenshi, Kinoshita, Kengo, and Aiba, Setsuya
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- 2021
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41. Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference
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Takayama, Jun, Tadaka, Shu, Yano, Kenji, Katsuoka, Fumiki, Gocho, Chinatsu, Funayama, Takamitsu, Makino, Satoshi, Okamura, Yasunobu, Kikuchi, Atsuo, Sugimoto, Sachiyo, Kawashima, Junko, Otsuki, Akihito, Sakurai-Yageta, Mika, Yasuda, Jun, Kure, Shigeo, Kinoshita, Kengo, Yamamoto, Masayuki, and Tamiya, Gen
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- 2021
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42. Genome-wide association study identifies new loci for albuminuria in the Japanese population
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Okuda, Hiroshi, Okamoto, Koji, Abe, Michiaki, Ishizawa, Kota, Makino, Satoshi, Tanabe, Osamu, Sugawara, Junichi, Hozawa, Atsushi, Tanno, Kozo, Sasaki, Makoto, Tamiya, Gen, Yamamoto, Masayuki, Ito, Sadayoshi, and Ishii, Tadashi
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- 2020
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43. Respiratory resistance among adults in a population-based cohort study in Northern Japan
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Miura, Emiri, Tsuchiya, Naho, Igarashi, Yu, Arakawa, Ritsuko, Nikkuni, Etsuhiro, Tamai, Tokiwa, Tabata, Masao, Ohkouchi, Shinya, Irokawa, Toshiya, Ogawa, Hiromasa, Takai-Igarashi, Takako, Suzuki, Yoichi, Kuriyama, Shinichi, Tamiya, Gen, Hozawa, Atsushi, Yamamoto, Masayuki, and Kurosawa, Hajime
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- 2019
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44. Ethnic and trans-ethnic genome-wide association studies identify new loci influencing Japanese Alzheimer’s disease risk
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Shigemizu, Daichi, Mitsumori, Risa, Akiyama, Shintaro, Miyashita, Akinori, Morizono, Takashi, Higaki, Sayuri, Asanomi, Yuya, Hara, Norikazu, Tamiya, Gen, Kinoshita, Kengo, Ikeuchi, Takeshi, Niida, Shumpei, and Ozaki, Kouichi
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- 2021
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45. Ethylene-gibberellin signaling underlies adaptation of rice to periodic flooding
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Kuroha, Takeshi, Nagai, Keisuke, Gamuyao, Rico, Wang, Diane R., Furuta, Tomoyuki, Nakamori, Masanari, Kitaoka, Takuya, Adachi, Keita, Minami, Anzu, Mori, Yoshinao, Mashiguchi, Kiyoshi, Seto, Yoshiya, Yamaguchi, Shinjiro, Kojima, Mikiko, Sakakibara, Hitoshi, Wu, Jianzhong, Ebana, Kaworu, Mitsuda, Nobutaka, Ohme-Takagi, Masaru, Yanagisawa, Shuichi, Yamasaki, Masanori, Yokoyama, Ryusuke, Nishitani, Kazuhiko, Mochizuki, Toshihiro, Tamiya, Gen, McCouch, Susan R., and Ashikari, Motoyuki
- Published
- 2018
46. Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals
- Author
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Yamaguchi-Kabata, Yumi, Yasuda, Jun, Uruno, Akira, Shimokawa, Kazuro, Koshiba, Seizo, Suzuki, Yoichi, Fuse, Nobuo, Kawame, Hiroshi, Tadaka, Shu, Nagasaki, Masao, Kojima, Kaname, Katsuoka, Fumiki, Kumada, Kazuki, Tanabe, Osamu, Tamiya, Gen, Yaegashi, Nobuo, Kinoshita, Kengo, Yamamoto, Masayuki, Kure, Shigeo, and The Tohoku Medical Megabank Project Study Group
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- 2019
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47. Clustering by phenotype and genome-wide association study in autism
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Narita, Akira, Nagai, Masato, Mizuno, Satoshi, Ogishima, Soichi, Tamiya, Gen, Ueki, Masao, Sakurai, Rieko, Makino, Satoshi, Obara, Taku, Ishikuro, Mami, Yamanaka, Chizuru, Matsubara, Hiroko, Kuniyoshi, Yasutaka, Murakami, Keiko, Ueno, Fumihiko, Noda, Aoi, Kobayashi, Tomoko, Kobayashi, Mika, Usuzaki, Takuma, Ohseto, Hisashi, Hozawa, Atsushi, Kikuya, Masahiro, Metoki, Hirohito, Kure, Shigeo, and Kuriyama, Shinichi
- Published
- 2020
- Full Text
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48. Machine learning to reveal hidden risk combinations for the trajectory of posttraumatic stress disorder symptoms
- Author
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Takahashi, Yuta, Yoshizoe, Kazuki, Ueki, Masao, Tamiya, Gen, Zhiqian, Yu, Utsumi, Yusuke, Sakuma, Atsushi, Tsuda, Koji, Hozawa, Atsushi, Tsuji, Ichiro, and Tomita, Hiroaki
- Published
- 2020
- Full Text
- View/download PDF
49. Improved metabolomic data-based prediction of depressive symptoms using nonlinear machine learning with feature selection
- Author
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Takahashi, Yuta, Ueki, Masao, Yamada, Makoto, Tamiya, Gen, Motoike, Ikuko N., Saigusa, Daisuke, Sakurai, Miyuki, Nagami, Fuji, Ogishima, Soichi, Koshiba, Seizo, Kinoshita, Kengo, Yamamoto, Masayuki, and Tomita, Hiroaki
- Published
- 2020
- Full Text
- View/download PDF
50. Comprehensive evaluation of machine learning algorithms for predicting sleep–wake conditions and differentiating between the wake conditions before and after sleep during pregnancy based on heart rate variability
- Author
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Li, Xue, primary, Ono, Chiaki, additional, Warita, Noriko, additional, Shoji, Tomoka, additional, Nakagawa, Takashi, additional, Usukura, Hitomi, additional, Yu, Zhiqian, additional, Takahashi, Yuta, additional, Ichiji, Kei, additional, Sugita, Norihiro, additional, Kobayashi, Natsuko, additional, Kikuchi, Saya, additional, Kimura, Ryoko, additional, Hamaie, Yumiko, additional, Hino, Mizuki, additional, Kunii, Yasuto, additional, Murakami, Keiko, additional, Ishikuro, Mami, additional, Obara, Taku, additional, Nakamura, Tomohiro, additional, Nagami, Fuji, additional, Takai, Takako, additional, Ogishima, Soichi, additional, Sugawara, Junichi, additional, Hoshiai, Tetsuro, additional, Saito, Masatoshi, additional, Tamiya, Gen, additional, Fuse, Nobuo, additional, Fujii, Susumu, additional, Nakayama, Masaharu, additional, Kuriyama, Shinichi, additional, Yamamoto, Masayuki, additional, Yaegashi, Nobuo, additional, Homma, Noriyasu, additional, and Tomita, Hiroaki, additional
- Published
- 2023
- Full Text
- View/download PDF
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