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dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project.
Ogishima S, Nagaie S, Mizuno S, Ishiwata R, Iida K, Shimokawa K, Takai-Igarashi T, Nakamura N, Nagase S, Nakamura T, Tsuchiya N, Nakaya N, Murakami K, Ueno F, Onuma T, Ishikuro M, Obara T, Mugikura S, Tomita H, Uruno A, Kobayashi T, Tsuboi A, Tadaka S, Katsuoka F, Narita A, Sakurai M, Makino S, Tamiya G, Aoki Y, Shimizu R, Motoike IN, Koshiba S, Minegishi N, Kumada K, Nobukuni T, Suzuki K, Danjoh I, Nagami F, Tanno K, Ohmomo H, Asahi K, Shimizu A, Hozawa A, Kuriyama S; Tohoku Medical Megabank Project Study Group; Fuse N, Tominaga T, Kure S, Yaegashi N, Kinoshita K, Sasaki M, Tanaka H, Yamamoto M. Ogishima S, et al. Among authors: kobayashi t. Hum Genome Var. 2021 Dec 10;8(1):44. doi: 10.1038/s41439-021-00175-5. Hum Genome Var. 2021. PMID: 34887386 Free PMC article.
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
Kobayashi T, Aoki Y, Niihori T, Cavé H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y. Kobayashi T, et al. Hum Mutat. 2010 Mar;31(3):284-94. doi: 10.1002/humu.21187. Hum Mutat. 2010. PMID: 20052757
Periodic Eye Movements and Epileptic Spasms in West Syndrome.
Kakisaka Y, Kobayashi T, Hino-Fukuyo N, Uematsu M, Numata Y, Mori M, Kure S. Kakisaka Y, et al. Among authors: kobayashi t. J Child Neurol. 2013 Nov;28(11):1483-1484. doi: 10.1177/0883073813489169. Epub 2013 May 13. J Child Neurol. 2013. PMID: 23670250
RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy.
Nakayama T, Saitsu H, Endo W, Kikuchi A, Uematsu M, Haginoya K, Hino-fukuyo N, Kobayashi T, Iwasaki M, Tominaga T, Kure S, Matsumoto N. Nakayama T, et al. Among authors: kobayashi t. Brain Dev. 2014 Jun;36(6):532-6. doi: 10.1016/j.braindev.2013.07.009. Epub 2013 Aug 16. Brain Dev. 2014. PMID: 23958593
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
Hino-Fukuyo N, Kikuchi A, Arai-Ichinoi N, Niihori T, Sato R, Suzuki T, Kudo H, Sato Y, Nakayama T, Kakisaka Y, Kubota Y, Kobayashi T, Funayama R, Nakayama K, Uematsu M, Aoki Y, Haginoya K, Kure S. Hino-Fukuyo N, et al. Among authors: kobayashi t. Hum Genet. 2015 Jun;134(6):649-58. doi: 10.1007/s00439-015-1553-6. Epub 2015 Apr 16. Hum Genet. 2015. PMID: 25877686 Clinical Trial.
Potential identification of vitamin B6 responsiveness in autism spectrum disorder utilizing phenotype variables and machine learning methods.
Obara T, Ishikuro M, Tamiya G, Ueki M, Yamanaka C, Mizuno S, Kikuya M, Metoki H, Matsubara H, Nagai M, Kobayashi T, Kamiyama M, Watanabe M, Kakuta K, Ouchi M, Kurihara A, Fukuchi N, Yasuhara A, Inagaki M, Kaga M, Kure S, Kuriyama S. Obara T, et al. Among authors: kobayashi t. Sci Rep. 2018 Oct 4;8(1):14840. doi: 10.1038/s41598-018-33110-w. Sci Rep. 2018. PMID: 30287864 Free PMC article. Clinical Trial.
A training and education program for genome medical research coordinators in the genome cohort study of the Tohoku Medical Megabank Organization.
Sakurai-Yageta M, Kawame H, Kuriyama S, Hozawa A, Nakaya N, Nagami F, Minegishi N, Ogishima S, Takai-Igarashi T, Danjoh I, Obara T, Ishikuro M, Kobayashi T, Aizawa Y, Ishihara R, Yamamoto M, Suzuki Y. Sakurai-Yageta M, et al. Among authors: kobayashi t. BMC Med Educ. 2019 Aug 2;19(1):297. doi: 10.1186/s12909-019-1725-5. BMC Med Educ. 2019. PMID: 31375111 Free PMC article.
Cohort Profile: Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study): rationale, progress and perspective.
Kuriyama S, Metoki H, Kikuya M, Obara T, Ishikuro M, Yamanaka C, Nagai M, Matsubara H, Kobayashi T, Sugawara J, Tamiya G, Hozawa A, Nakaya N, Tsuchiya N, Nakamura T, Narita A, Kogure M, Hirata T, Tsuji I, Nagami F, Fuse N, Arai T, Kawaguchi Y, Higuchi S, Sakaida M, Suzuki Y, Osumi N, Nakayama K, Ito K, Egawa S, Chida K, Kodama E, Kiyomoto H, Ishii T, Tsuboi A, Tomita H, Taki Y, Kawame H, Suzuki K, Ishii N, Ogishima S, Mizuno S, Takai-Igarashi T, Minegishi N, Yasuda J, Igarashi K, Shimizu R, Nagasaki M, Tanabe O, Koshiba S, Hashizume H, Motohashi H, Tominaga T, Ito S, Tanno K, Sakata K, Shimizu A, Hitomi J, Sasaki M, Kinoshita K, Tanaka H, Kobayashi T; Tohoku Medical Megabank Project Study Group; Kure S, Yaegashi N, Yamamoto M. Kuriyama S, et al. Among authors: kobayashi t. Int J Epidemiol. 2020 Feb 1;49(1):18-19m. doi: 10.1093/ije/dyz169. Int J Epidemiol. 2020. PMID: 31504573 Free PMC article. No abstract available.
Study Profile of the Tohoku Medical Megabank Community-Based Cohort Study.
Hozawa A, Tanno K, Nakaya N, Nakamura T, Tsuchiya N, Hirata T, Narita A, Kogure M, Nochioka K, Sasaki R, Takanashi N, Otsuka K, Sakata K, Kuriyama S, Kikuya M, Tanabe O, Sugawara J, Suzuki K, Suzuki Y, Kodama EN, Fuse N, Kiyomoto H, Tomita H, Uruno A, Hamanaka Y, Metoki H, Ishikuro M, Obara T, Kobayashi T, Kitatani K, Takai-Igarashi T, Ogishima S, Satoh M, Ohmomo H, Tsuboi A, Egawa S, Ishii T, Ito K, Ito S, Taki Y, Minegishi N, Ishii N, Nagasaki M, Igarashi K, Koshiba S, Shimizu R, Tamiya G, Nakayama K, Motohashi H, Yasuda J, Shimizu A, Hachiya T, Shiwa Y, Tominaga T, Tanaka H, Oyama K, Tanaka R, Kawame H, Fukushima A, Ishigaki Y, Tokutomi T, Osumi N, Kobayashi T, Nagami F, Hashizume H, Arai T, Kawaguchi Y, Higuchi S, Sakaida M, Endo R, Nishizuka S, Tsuji I, Hitomi J, Nakamura M, Ogasawara K, Yaegashi N, Kinoshita K, Kure S, Sakai A, Kobayashi S, Sobue K, Sasaki M, Yamamoto M. Hozawa A, et al. Among authors: kobayashi s, kobayashi t. J Epidemiol. 2021 Jan 5;31(1):65-76. doi: 10.2188/jea.JE20190271. Epub 2020 Jan 11. J Epidemiol. 2021. PMID: 31932529 Free PMC article.
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