Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference von 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, Tamiya, Gen

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A genome-wide association study identifies RNF213 as the first Moyamoya disease gene von Kamada, Fumiaki, Aoki, Yoko, Narisawa, Ayumi, Abe, Yu, Komatsuzaki, Shoko, Kikuchi, Atsuo, Kanno, Junko, Niihori, Tetsuya, Ono, Masao, Ishii, Naoto, Owada, Yuji, Fujimura, Miki, Mashimo, Yoichi, Suzuki, Yoichi, Hata, Akira, Tsuchiya, Shigeru, Tominaga, Teiji, Matsubara, Yoichi, Kure, Shigeo

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Gut microbiome-derived phenyl sulfate contributes to albuminuria in diabetic kidney disease von Kikuchi, Koichi, Saigusa, Daisuke, Kanemitsu, Yoshitomi, Matsumoto, Yotaro, Thanai, Paxton, Suzuki, Naoto, Mise, Koki, Yamaguchi, Hiroaki, Nakamura, Tomohiro, Asaji, Kei, Mukawa, Chikahisa, Tsukamoto, Hiroki, Sato, Toshihiro, Oikawa, Yoshitsugu, Iwasaki, Tomoyuki, Oe, Yuji, Tsukimi, Tomoya, Fukuda, Noriko N., HO, Hsin-Jung, Nanto-Hara, Fumika, Ogura, Jiro, Saito, Ritsumi, Nagao, Shizuko, Ohsaki, Yusuke, Shimada, Satoshi, Suzuki, Takehiro, Toyohara, Takafumi, Mishima, Eikan, Shima, Hisato, Akiyama, Yasutoshi, Akiyama, Yukako, Ichijo, Mariko, Matsuhashi, Tetsuro, Matsuo, Akihiro, Ogata, Yoshiaki, Yang, Ching-Chin, Suzuki, Chitose, Breeggemann, Matthew C., Heymann, Jurgen, Shimizu, Miho, Ogawa, Susumu, Takahashi, Nobuyuki, Suzuki, Takashi, Owada, Yuji, Kure, Shigeo, Mano, Nariyasu, Soga, Tomoyoshi, Wada, Takashi, Kopp, Jeffrey B., Fukuda, Shinji, Hozawa, Atsushi, Yamamoto, Masayuki, Ito, Sadayoshi, Wada, Jun, Tomioka, Yoshihisa, Abe, Takaaki

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COVID-19 transmission in group living environments and households von Akaishi, Tetsuya, Kushimoto, Shigeki, Katori, Yukio, Kure, Shigeo, Igarashi, Kaoru, Takayama, Shin, Abe, Michiaki, Tanaka, Junichi, Kikuchi, Akiko, Onodera, Ko, Ishii, Tadashi

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Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals von Nagasaki, Masao, Yasuda, Jun, Katsuoka, Fumiki, Nariai, Naoki, Kojima, Kaname, Kawai, Yosuke, Yamaguchi-Kabata, Yumi, Yokozawa, Junji, Danjoh, Inaho, Saito, Sakae, Sato, Yukuto, Mimori, Takahiro, Tsuda, Kaoru, Saito, Rumiko, Pan, Xiaoqing, Nishikawa, Satoshi, Ito, Shin, Kuroki, Yoko, Tanabe, Osamu, Fuse, Nobuo, Kuriyama, Shinichi, Kiyomoto, Hideyasu, Hozawa, Atsushi, Minegishi, Naoko, Douglas Engel, James, Kinoshita, Kengo, Kure, Shigeo, Yaegashi, Nobuo, Yamamoto, Masayuki

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Impacts of the urinary sodium-to-potassium ratio, sleep efficiency, and conventional risk factors on home hypertension in a general Japanese population von Hirata, Takumi, Kogure, Mana, Tsuchiya, Naho, Miyagawa, Ken, Narita, Akira, Nochioka, Kotaro, Uruno, Akira, Obara, Taku, Nakamura, Tomohiro, Nakaya, Naoki, Metoki, Hirohito, Kikuya, Masahiro, Sugawara, Junichi, Kuriyama, Shinichi, Tsuji, Ichiro, Kure, Shigeo, Hozawa, Atsushi

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Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency von Kure, Shigeo, Shintaku, Haruo

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Successful use of an artificial placenta to support extremely preterm ovine fetuses at the border of viability von Usuda, Haruo, Watanabe, Shimpei, Saito, Masatoshi, Sato, Shinichi, Musk, Gabrielle C., Fee, Ms Erin, Carter, Sean, Kumagai, Yusaku, Takahashi, Tsukasa, Kawamura, Mr Shinichi, Hanita, Takushi, Kure, Shigeo, Yaegashi, Nobuo, Newnham, John P., Kemp, Matthew W.

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Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation von Moriya, Kunihiko, Suzuki, Tasuku, Uchida, Nao, Nakano, Tomohiro, Katayama, Saori, Irie, Masahiro, Rikiishi, Takeshi, Niizuma, Hidetaka, Okada, Satoshi, Imai, Kohsuke, Sasahara, Yoji, Kure, Shigeo

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Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing von Togawa, Takao, MD, Sugiura, Tokio, MD, PhD, Ito, Koichi, MD, PhD, Endo, Takeshi, MD, PhD, Aoyama, Kohei, MD, Ohashi, Kei, MD, Negishi, Yutaka, MD, Kudo, Toyoichiro, MD, PhD, Ito, Reiko, MD, PhD, Kikuchi, Atsuo, MD, PhD, Arai-Ichinoi, Natsuko, MD, PhD, Kure, Shigeo, MD, PhD, Saitoh, Shinji, MD, PhD

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Beneficial Effects of Systemically Administered Human Muse Cells in Adriamycin Nephropathy von Uchida, Nao, Kushida, Yoshihiro, Kitada, Masaaki, Wakao, Shohei, Kumagai, Naonori, Kuroda, Yasumasa, Kondo, Yoshiaki, Hirohara, Yukari, Kure, Shigeo, Chazenbalk, Gregorio, Dezawa, Mari

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Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant von Izumi, Tatsuro, Aihara, Yu, Kikuchi, Atsuo, Kure, Shigeo

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Study Profile of the Tohoku Medical Megabank Community-Based Cohort Study von Hozawa, Atsushi, Tanno, Kozo, Nakaya, Naoki, Nakamura, Tomohiro, Tsuchiya, Naho, Hirata, Takumi, Narita, Akira, Kogure, Mana, Nochioka, Kotaro, Sasaki, Ryohei, Takanashi, Nobuyuki, Otsuka, Kotaro, Sakata, Kiyomi, Kuriyama, Shinichi, Kikuya, Masahiro, Tanabe, Osamu, Sugawara, Junichi, Suzuki, Kichiya, Suzuki, Yoichi, Kodama, Eiichi N, Fuse, Nobuo, Kiyomoto, Hideyasu, Tomita, Hiroaki, Uruno, Akira, Hamanaka, Yohei, Metoki, Hirohito, Ishikuro, Mami, Obara, Taku, Kobayashi, Tomoko, Kitatani, Kazuyuki, Takai-Igarashi, Takako, Ogishima, Soichi, Satoh, Mamoru, Ohmomo, Hideki, Tsuboi, Akito, Egawa, Shinichi, Ishii, Tadashi, Ito, Kiyoshi, Ito, Sadayoshi, Taki, Yasuyuki, Minegishi, Naoko, Ishii, Naoto, Nagasaki, Masao, Igarashi, Kazuhiko, Koshiba, Seizo, Shimizu, Ritsuko, Tamiya, Gen, Nakayama, Keiko, Motohashi, Hozumi, Yasuda, Jun, Shimizu, Atsushi, Hachiya, Tsuyoshi, Shiwa, Yuh, Tominaga, Teiji, Tanaka, Hiroshi, Oyama, Kotaro, Tanaka, Ryoichi, Kawame, Hiroshi, Fukushima, Akimune, Ishigaki, Yasushi, Tokutomi, Tomoharu, Osumi, Noriko, Kobayashi, Tadao, Nagami, Fuji, Hashizume, Hiroaki, Arai, Tomohiko, Kawaguchi, Yoshio, Higuchi, Shinichi, Sakaida, Masaki, Endo, Ryujin, Nishizuka, Satoshi, Tsuji, Ichiro, Hitomi, Jiro, Nakamura, Motoyuki, Ogasawara, Kuniaki, Yaegashi, Nobuo, Kinoshita, Kengo, Kure, Shigeo, Sakai, Akio, Kobayashi, Seiichiro, Sobue, Kenji, Sasaki, Makoto, Yamamoto, Masayuki

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Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age von Arai‐Ichinoi, Natsuko, Kikuchi, Atsuo, Wada, Yoichi, Sakamoto, Osamu, Kure, Shigeo

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GATA2 haploinsufficiency accelerates EVI1-driven leukemogenesis von Katayama, Saori, Suzuki, Mikiko, Yamaoka, Ayaka, Keleku-Lukwete, Nadine, Katsuoka, Fumiki, Otsuki, Akihito, Kure, Shigeo, Engel, James Douglas, Yamamoto, Masayuki

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Enhanced post-ischemic angiogenesis in mice lacking RNF213 ; a susceptibility gene for moyamoya disease von Ito, Akira, Fujimura, Miki, Niizuma, Kuniyasu, Kanoke, Atsushi, Sakata, Hiroyuki, Morita-Fujimura, Yuiko, Kikuchi, Atsuo, Kure, Shigeo, Tominaga, Teiji

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The guanylate cyclase C agonist linaclotide ameliorates the gut–cardio–renal axis in an adenine-induced mouse model of chronic kidney disease von Nanto-Hara, Fumika, Kanemitsu, Yoshitomi, Fukuda, Shinji, Kikuchi, Koichi, Asaji, Kei, Saigusa, Daisuke, Iwasaki, Tomoyuki, Ho, Hsin-Jung, Mishima, Eikan, Suzuki, Takehiro, Suzuki, Chitose, Tsukimi, Tomoya, Matsuhashi, Tetsuro, Oikawa, Yoshitsugu, Akiyama, Yukako, Kure, Shigeo, Owada, Yuji, Tomioka, Yoshihisa, Soga, Tomoyoshi, Ito, Sadayoshi, Abe, Takaaki

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Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia) von Kure, Shigeo

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Two Distinct Cases of Adult-onset Kawasaki Disease von Onoki, Takehiko, Metoki, Takaya, Iwasawa, Shinya, Kawano, Kengo, Kimura, Masato, Kure, Shigeo, Ota, Chiharu

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Consideration of the reference value and number of measurements of the urinary sodium-to-potassium ratio based on the prevalence of untreated home hypertension: TMM Cohort Study von Kogure, Mana, Nakamura, Tomohiro, Tsuchiya, Naho, Hirata, Takumi, Nochioka, Kotaro, Narita, Akira, Hatanaka, Rieko, Itabashi, Fumi, Kanno, Ikumi, Obara, Taku, Satoh, Michihiro, Metoki, Hirohito, Miyagawa, Ken, Koshimizu, Hiroshi, Nagayoshi, Sho, Uruno, Akira, Kikuya, Masahiro, Suzuki, Kichiya, Nakaya, Naoki, Sugawara, Junichi, Kuriyama, Shinichi, Tsuji, Ichiro, Kure, Shigeo, Hozawa, Atsushi

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