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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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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A case of 49,XXXYY followed-up from infancy to adulthood with review of literature von Kanno, Junko, Miura, Akinobu, Kawashima, Sayaka, Shima, Hirohito, Suzuki, Dai, Kamimura, Miki, Fujiwara, Ikuma, Kamimura, Masayuki, Uematsu, Mitsugu, Kudo, Masataka, Kikuchi, Atsuo

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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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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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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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Trends in endogenous insulin secretion capacity and anti-islet autoantibody titers in two childhood-onset slowly progressive insulin-dependent diabetes mellitus cases von Suzuki, Dai, Shima, Hirohito, Kawashima, Sayaka, Kamimura, Miki, Kikuchi, Atsuo, Kanno, Junko

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Severe growth retardation during carbohydrate restriction in type 1 diabetes mellitus: A case report von Kawashima, Sayaka, Sogi, Chisumi, Kamimura, Miki, Kikuchi, Atsuo, Kanno, Junko

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Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice von Wada, Yoichi, Kikuchi, Atsuo, Kaga, Akimune, Shimizu, Naoki, Ito, Junya, Onuma, Ryo, Fujishima, Fumiyoshi, Totsune, Eriko, Sato, Ryo, Niihori, Tetsuya, Shirota, Matsuyuki, Funayama, Ryo, Sato, Kota, Nakazawa, Toru, Nakayama, Keiko, Aoki, Yoko, Aiba, Setsuya, Nakagawa, Kiyotaka, Kure, Shigeo

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A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome von Inui, Takehiko, Anzai, Mai, Takezawa, Yusuke, Endo, Wakaba, Kakisaka, Yosuke, Kikuchi, Atsuo, Onuma, Akira, Kure, Shigeo, Nishino, Ichizo, Ohba, Chihiro, Saitsu, Hirotomo, Matsumoto, Naomichi, Haginoya, Kazuhiro

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A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor von Aihara, Yu, Shirota, Matsuyuki, Kikuchi, Atsuo, Katata, Yu, Abe, Yu, Niihori, Tetsuya, Funayama, Ryo, Nakayama, Keiko, Aoki, Yoko, Kure, Shigeo

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Biallelic GALM pathogenic variants cause a novel type of galactosemia von Wada, Yoichi, Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Sakamoto, Osamu, Takezawa, Yusuke, Iwasawa, Shinya, Niihori, Tetsuya, Nyuzuki, Hiromi, Nakajima, Yoko, Ogawa, Erika, Ishige, Mika, Hirai, Hiroki, Sasai, Hideo, Fujiki, Ryoji, Shirota, Matsuyuki, Funayama, Ryo, Yamamoto, Masayuki, Ito, Tetsuya, Ohara, Osamu, Nakayama, Keiko, Aoki, Yoko, Koshiba, Seizo, Fukao, Toshiyuki, Kure, Shigeo

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The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan von Kikuchi, Atsuo, Wada, Yoichi, Ohura, Toshihiro, Kure, Shigeo

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De novo GABRA1 mutations in Ohtahara and West syndromes von Kodera, Hirofumi, Ohba, Chihiro, Kato, Mitsuhiro, Maeda, Toshiyuki, Araki, Kaoru, Tajima, Daisuke, Matsuo, Muneaki, Hino‐Fukuyo, Naomi, Kohashi, Kosuke, Ishiyama, Akihiko, Takeshita, Saoko, Motoi, Hirotaka, Kitamura, Taro, Kikuchi, Atsuo, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Sasaki, Masayuki, Kure, Shigeo, Haginoya, Kazuhiro, Saitsu, Hirotomo, Matsumoto, Naomichi

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Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2 von Narishige, Yuta, Yaoita, Hisao, Shibuya, Moriei, Ikeda, Miki, Kodama, Kaori, Kawashima, Aritomo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Tanaka, Soichiro, Kobayashi, Yasuko, Onuma, Akira, Takayama, Jun, Tamiya, Gen, Kikuchi, Atsuo, Kure, Shigeo, Haginoya, Kazuhiro

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A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder von Iwafuchi, Sota, Kikuchi, Atsuo, Endo, Wakaba, Inui, Takehiko, Aihara, Yu, Satou, Kazuhito, Kaname, Tadashi, Kure, Shigeo

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Recurrent de novo MAPK8IP3 variants cause neurological phenotypes von Iwasawa, Shinya, Yanagi, Kumiko, Kikuchi, Atsuo, Kobayashi, Yasuko, Haginoya, Kazuhiro, Matsumoto, Hiroshi, Kurosawa, Kenji, Ochiai, Masayuki, Sakai, Yasunari, Fujita, Atsushi, Miyake, Noriko, Niihori, Tetsuya, Shirota, Matsuyuki, Funayama, Ryo, Nonoyama, Shigeaki, Ohga, Shouichi, Kawame, Hiroshi, Nakayama, Keiko, Aoki, Yoko, Matsumoto, Naomichi, Kaname, Tadashi, Matsubara, Yoichi, Shoji, Wataru, Kure, Shigeo

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Reply to: Avoid valproate in patients with IARS2 mutations von Takezawa, Yusuke, Fujie, Hiromi, Kikuchi, Atsuo, Kure, Shigeo

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Hypoketotic hypoglycemia in citrin deficiency: a case report von Wada, Yoichi, Arai-Ichinoi, Natsuko, Kikuchi, Atsuo, Sakamoto, Osamu, Kure, Shigeo

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