Showing 1–37 of 37 results
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Research | | Open
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
- Shinichi Nagaoka
- , Yumi Yamaguchi-Kabata
- , Naomi Shiga
- , Masahito Tachibana
- , Jun Yasuda
- , Shu Tadaka
- , Gen Tamiya
- , Nobuo Fuse
- , Kengo Kinoshita
- , Shigeo Kure
- , Jun Murotsuki
- , Masayuki Yamamoto
- , Nobuo Yaegashi
- & Junichi Sugawara
Human Genome Variation 8 , 1–17 -
Research | | Open
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Amendments and Corrections |
Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia
- Yoichi Wada
- , Atsuo Kikuchi
- , Natsuko Arai-Ichinoi
- , Osamu Sakamoto
- , Yusuke Takezawa
- , Shinya Iwasawa
- , Tetsuya Niihori
- , Hiromi Nyuzuki
- , Yoko Nakajima
- , Erika Ogawa
- , Mika Ishige
- , Hiroki Hirai
- , Hideo Sasai
- , Ryoji Fujiki
- , Matsuyuki Shirota
- , Ryo Funayama
- , Masayuki Yamamoto
- , Tetsuya Ito
- , Osamu Ohara
- , Keiko Nakayama
- , Yoko Aoki
- , Seizo Koshiba
- , Toshiyuki Fukao
- & Shigeo Kure
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Clustering by phenotype and genome-wide association study in autism
- Akira Narita
- , Masato Nagai
- , Satoshi Mizuno
- , Soichi Ogishima
- , Gen Tamiya
- , Masao Ueki
- , Rieko Sakurai
- , Satoshi Makino
- , Taku Obara
- , Mami Ishikuro
- , Chizuru Yamanaka
- , Hiroko Matsubara
- , Yasutaka Kuniyoshi
- , Keiko Murakami
- , Fumihiko Ueno
- , Aoi Noda
- , Tomoko Kobayashi
- , Mika Kobayashi
- , Takuma Usuzaki
- , Hisashi Ohseto
- , Atsushi Hozawa
- , Masahiro Kikuya
- , Hirohito Metoki
- , Shigeo Kure
- & Shinichi Kuriyama
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Potential identification of vitamin B6 responsiveness in autism spectrum disorder utilizing phenotype variables and machine learning methods
- Taku Obara
- , Mami Ishikuro
- , Gen Tamiya
- , Masao Ueki
- , Chizuru Yamanaka
- , Satoshi Mizuno
- , Masahiro Kikuya
- , Hirohito Metoki
- , Hiroko Matsubara
- , Masato Nagai
- , Tomoko Kobayashi
- , Machiko Kamiyama
- , Mikako Watanabe
- , Kazuhiko Kakuta
- , Minami Ouchi
- , Aki Kurihara
- , Naru Fukuchi
- , Akihiro Yasuhara
- , Masumi Inagaki
- , Makiko Kaga
- , Shigeo Kure
- & Shinichi Kuriyama
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Research |
Biallelic GALM pathogenic variants cause a novel type of galactosemia
- Yoichi Wada
- , Atsuo Kikuchi
- , Natsuko Arai-Ichinoi
- , Osamu Sakamoto
- , Yusuke Takezawa
- , Shinya Iwasawa
- , Tetsuya Niihori
- , Hiromi Nyuzuki
- , Yoko Nakajima
- , Erika Ogawa
- , Mika Ishige
- , Hiroki Hirai
- , Hideo Sasai
- , Ryoji Fujiki
- , Matsuyuki Shirota
- , Ryo Funayama
- , Masayuki Yamamoto
- , Tetsuya Ito
- , Osamu Ohara
- , Keiko Nakayama
- , Yoko Aoki
- , Seizo Koshiba
- , Toshiyuki Fukao
- & Shigeo Kure
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Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri–Weill dyschondrosteosis
- Hirohito Shima
- , Toshiaki Tanaka
- , Tsutomu Kamimaki
- , Sumito Dateki
- , Koji Muroya
- , Reiko Horikawa
- , Junko Kanno
- , Masanori Adachi
- , Yasuhiro Naiki
- , Hiroyuki Tanaka
- , Hiroyo Mabe
- , Hideaki Yagasaki
- , Shigeo Kure
- , Yoichi Matsubara
- , Toshihiro Tajima
- , Kenichi Kashimada
- , Tomohiro Ishii
- , Yumi Asakura
- , Ikuma Fujiwara
- , Shun Soneda
- , Keisuke Nagasaki
- , Takashi Hamajima
- , Susumu Kanzaki
- , Tomoko Jinno
- , Tsutomu Ogata
- , Maki Fukami
- , M Adachi
- , T Tajima
- , T Tanaka
- , O Arisaka
- , S Koyama
- , T Hamajima
- , O Nose
- , K Ozono
- , N Namba
- , K Nagasaki
- , T Kamimaki
- , S Kanzaki
- , T Ogata
- , H Tanaka
- , Y Hasegawa
- , K Kobayashi
- , S Dateki
- , H Mabe
- , I Fujiwara
- , S Ida
- , T Hasegawa
- , A Uematsu
- , K Kashimada
- , K Onigata
- , K Miyako
- , S Yokoya
- , R Horikawa
- & M Fukami
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Linkage and association of childhood asthma with the chromosome 12 genes
- Chenchen Shao
- , Yoichi Suzuki
- , Fumiaki Kamada
- , Kiyoshi Kanno
- , Mayumi Tamari
- , Koichi Hasegawa
- , Yoko Aoki
- , Shigeo Kure
- , Xue Yang
- , Hiroko Endo
- , Reiko Takayanagi
- , Chifuyu Nakazawa
- , Toshio Morikawa
- , Miki Morikawa
- , Shigeaki Miyabayashi
- , Yasushi Chiba
- , Minoru Karahashi
- , Seichi Saito
- , Gen Tamura
- , Taro Shirakawa
- & Yoichi Matsubara
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Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
- Yoko Narumi
- , Yoko Aoki
- , Tetsuya Niihori
- , Masahiro Sakurai
- , Hélène Cavé
- , Alain Verloes
- , Kimio Nishio
- , Hirofumi Ohashi
- , Kenji Kurosawa
- , Nobuhiko Okamoto
- , Hiroshi Kawame
- , Seiji Mizuno
- , Tatsuro Kondoh
- , Marie-Claude Addor
- , Anne Coeslier-Dieux
- , Catherine Vincent-Delorme
- , Koichi Tabayashi
- , Masashi Aoki
- , Tomoko Kobayashi
- , Afag Guliyeva
- , Shigeo Kure
- & Yoichi Matsubara
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Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
- Shoko Komatsuzaki
- , Yoko Aoki
- , Tetsuya Niihori
- , Nobuhiko Okamoto
- , Raoul C M Hennekam
- , Saskia Hopman
- , Hirofumi Ohashi
- , Seiji Mizuno
- , Yoriko Watanabe
- , Hotaka Kamasaki
- , Ikuko Kondo
- , Nobuko Moriyama
- , Kenji Kurosawa
- , Hiroshi Kawame
- , Ryuhei Okuyama
- , Masue Imaizumi
- , Takeshi Rikiishi
- , Shigeru Tsuchiya
- , Shigeo Kure
- & Yoichi Matsubara
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Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
- Tetsuya Niihori
- , Yoko Aoki
- , Yoko Narumi
- , Giovanni Neri
- , Hélène Cavé
- , Alain Verloes
- , Nobuhiko Okamoto
- , Raoul C M Hennekam
- , Gabriele Gillessen-Kaesbach
- , Dagmar Wieczorek
- , Maria Ines Kavamura
- , Kenji Kurosawa
- , Hirofumi Ohashi
- , Louise Wilson
- , Delphine Heron
- , Dominique Bonneau
- , Giuseppina Corona
- , Tadashi Kaname
- , Kenji Naritomi
- , Clarisse Baumann
- , Naomichi Matsumoto
- , Kumi Kato
- , Shigeo Kure
- & Yoichi Matsubara
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Research | | Open
Gut microbiome-derived phenyl sulfate contributes to albuminuria in diabetic kidney disease
- Koichi Kikuchi
- , Daisuke Saigusa
- , Yoshitomi Kanemitsu
- , Yotaro Matsumoto
- , Paxton Thanai
- , Naoto Suzuki
- , Koki Mise
- , Hiroaki Yamaguchi
- , Tomohiro Nakamura
- , Kei Asaji
- , Chikahisa Mukawa
- , Hiroki Tsukamoto
- , Toshihiro Sato
- , Yoshitsugu Oikawa
- , Tomoyuki Iwasaki
- , Yuji Oe
- , Tomoya Tsukimi
- , Noriko N. Fukuda
- , Hsin-Jung HO
- , Fumika Nanto-Hara
- , Jiro Ogura
- , Ritsumi Saito
- , Shizuko Nagao
- , Yusuke Ohsaki
- , Satoshi Shimada
- , Takehiro Suzuki
- , Takafumi Toyohara
- , Eikan Mishima
- , Hisato Shima
- , Yasutoshi Akiyama
- , Yukako Akiyama
- , Mariko Ichijo
- , Tetsuro Matsuhashi
- , Akihiro Matsuo
- , Yoshiaki Ogata
- , Ching-Chin Yang
- , Chitose Suzuki
- , Matthew C. Breeggemann
- , Jurgen Heymann
- , Miho Shimizu
- , Susumu Ogawa
- , Nobuyuki Takahashi
- , Takashi Suzuki
- , Yuji Owada
- , Shigeo Kure
- , Nariyasu Mano
- , Tomoyoshi Soga
- , Takashi Wada
- , Jeffrey B. Kopp
- , Shinji Fukuda
- , Atsushi Hozawa
- , Masayuki Yamamoto
- , Sadayoshi Ito
- , Jun Wada
- , Yoshihisa Tomioka
- & Takaaki Abe
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Research | | Open
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
- Shazia Ashraf
- , Hiroki Kudo
- , Jia Rao
- , Atsuo Kikuchi
- , Eugen Widmeier
- , Jennifer A. Lawson
- , Weizhen Tan
- , Tobias Hermle
- , Jillian K. Warejko
- , Shirlee Shril
- , Merlin Airik
- , Tilman Jobst-Schwan
- , Svjetlana Lovric
- , Daniela A. Braun
- , Heon Yung Gee
- , David Schapiro
- , Amar J. Majmundar
- , Carolin E. Sadowski
- , Werner L. Pabst
- , Ankana Daga
- , Amelie T. van der Ven
- , Johanna M. Schmidt
- , Boon Chuan Low
- , Anjali Bansal Gupta
- , Brajendra K. Tripathi
- , Jenny Wong
- , Kirk Campbell
- , Kay Metcalfe
- , Denny Schanze
- , Tetsuya Niihori
- , Hiroshi Kaito
- , Kandai Nozu
- , Hiroyasu Tsukaguchi
- , Ryojiro Tanaka
- , Kiyoshi Hamahira
- , Yasuko Kobayashi
- , Takumi Takizawa
- , Ryo Funayama
- , Keiko Nakayama
- , Yoko Aoki
- , Naonori Kumagai
- , Kazumoto Iijima
- , Henry Fehrenbach
- , Jameela A. Kari
- , Sherif El Desoky
- , Sawsan Jalalah
- , Radovan Bogdanovic
- , Nataša Stajić
- , Hildegard Zappel
- , Assel Rakhmetova
- , Sharon-Rose Wassmer
- , Therese Jungraithmayr
- , Juergen Strehlau
- , Aravind Selvin Kumar
- , Arvind Bagga
- , Neveen A. Soliman
- , Shrikant M. Mane
- , Lewis Kaufman
- , Douglas R. Lowy
- , Mohamad A. Jairajpuri
- , Richard P. Lifton
- , York Pei
- , Martin Zenker
- , Shigeo Kure
- & Friedhelm Hildebrandt
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Research |
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals
- Yumi Yamaguchi-Kabata
- , Jun Yasuda
- , Osamu Tanabe
- , Yoichi Suzuki
- , Hiroshi Kawame
- , Nobuo Fuse
- , Masao Nagasaki
- , Yosuke Kawai
- , Kaname Kojima
- , Fumiki Katsuoka
- , Sakae Saito
- , Inaho Danjoh
- , Ikuko N. Motoike
- , Riu Yamashita
- , Seizo Koshiba
- , Daisuke Saigusa
- , Gen Tamiya
- , Shigeo Kure
- , Nobuo Yaegashi
- , Yoshio Kawaguchi
- , Fuji Nagami
- , Shinichi Kuriyama
- , Junichi Sugawara
- , Naoko Minegishi
- , Atsushi Hozawa
- , Soichi Ogishima
- , Hideyasu Kiyomoto
- , Takako Takai-Igarashi
- , Kengo Kinoshita
- & Masayuki Yamamoto
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Research | | Open
The structural origin of metabolic quantitative diversity
- Seizo Koshiba
- , Ikuko Motoike
- , Kaname Kojima
- , Takanori Hasegawa
- , Matsuyuki Shirota
- , Tomo Saito
- , Daisuke Saigusa
- , Inaho Danjoh
- , Fumiki Katsuoka
- , Soichi Ogishima
- , Yosuke Kawai
- , Yumi Yamaguchi-Kabata
- , Miyuki Sakurai
- , Sachiko Hirano
- , Junichi Nakata
- , Hozumi Motohashi
- , Atsushi Hozawa
- , Shinichi Kuriyama
- , Naoko Minegishi
- , Masao Nagasaki
- , Takako Takai-Igarashi
- , Nobuo Fuse
- , Hideyasu Kiyomoto
- , Junichi Sugawara
- , Yoichi Suzuki
- , Shigeo Kure
- , Nobuo Yaegashi
- , Osamu Tanabe
- , Kengo Kinoshita
- , Jun Yasuda
- & Masayuki Yamamoto
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Research | | Open
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
- Masao Nagasaki
- , Jun Yasuda
- , Fumiki Katsuoka
- , Naoki Nariai
- , Kaname Kojima
- , Yosuke Kawai
- , Yumi Yamaguchi-Kabata
- , Junji Yokozawa
- , Inaho Danjoh
- , Sakae Saito
- , Yukuto Sato
- , Takahiro Mimori
- , Kaoru Tsuda
- , Rumiko Saito
- , Xiaoqing Pan
- , Satoshi Nishikawa
- , Shin Ito
- , Yoko Kuroki
- , Osamu Tanabe
- , Nobuo Fuse
- , Shinichi Kuriyama
- , Hideyasu Kiyomoto
- , Atsushi Hozawa
- , Naoko Minegishi
- , James Douglas Engel
- , Kengo Kinoshita
- , Shigeo Kure
- , Nobuo Yaegashi
- , Akito Tsuboi
- , Fuji Nagami
- , Hiroshi Kawame
- , Hiroaki Tomita
- , Ichiro Tsuji
- , Jun Nakaya
- , Junichi Sugawara
- , Kichiya Suzuki
- , Masahiro Kikuya
- , Michiaki Abe
- , Naoki Nakaya
- , Noriko Osumi
- , Riu Yamashita
- , Soichi Ogishima
- , Takako Takai
- , Teiji Tominaga
- , Yasuyuki Taki
- , Yoichi Suzuki
- & Masayuki Yamamoto
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Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
- Tetsuya Niihori
- , Yoko Aoki
- , Hirofumi Ohashi
- , Kenji Kurosawa
- , Tatsuro Kondoh
- , Satoshi Ishikiriyama
- , Hiroshi Kawame
- , Hotaka Kamasaki
- , Tsutomu Yamanaka
- , Fumio Takada
- , Kimio Nishio
- , Masahiro Sakurai
- , Hiroshi Tamai
- , Tatsuro Nagashima
- , Yoichi Suzuki
- , Shigeo Kure
- , Kunihiro Fujii
- , Masue Imaizumi
- & Yoichi Matsubara
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