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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V; Undiagnosed Diseases Network; Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C. Parenti I, et al. Among authors: yamamoto t. Hum Genet. 2021 Jul;140(7):1109-1120. doi: 10.1007/s00439-021-02283-2. Epub 2021 May 4. Hum Genet. 2021. PMID: 33944996 Free PMC article.
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.
Miyamoto S, Kato M, Hiraide T, Shiohama T, Goto T, Hojo A, Ebata A, Suzuki M, Kobayashi K, Chong PF, Kira R, Matsushita HB, Ikeda H, Hoshino K, Matsufuji M, Moriyama N, Furuyama M, Yamamoto T, Nakashima M, Saitsu H. Miyamoto S, et al. Among authors: yamamoto t. J Hum Genet. 2021 Nov;66(11):1061-1068. doi: 10.1038/s10038-021-00932-y. Epub 2021 May 6. J Hum Genet. 2021. PMID: 33958710
Expanding the KIF4A-associated phenotype.
Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Niceta M, Cesario C, Milone R, Kaplan J, Wadman E, Dobyns WB, Filges I. Kalantari S, et al. Among authors: yamamoto t. Am J Med Genet A. 2021 Dec;185(12):3728-3739. doi: 10.1002/ajmg.a.62443. Epub 2021 Aug 3. Am J Med Genet A. 2021. PMID: 34346154 Free PMC article.
Efficacy and Safety of Non-Vitamin K Antagonist Oral Anticoagulants for Japanese Patients With Venous Thromboembolism　- The Primary Results From the KUROSIO Study.
Yamada N, Tamaru S, Umetsu M, Tsujita K, Nakamura M, Watanabe A, Yuzaki M, Nishimura Y, Ogura T, Yamamoto T, Satokawa H, Obayashi T, Nakamura M; KUROSIO Study Investigators. Yamada N, et al. Among authors: yamamoto t. Circ J. 2024 May 28. doi: 10.1253/circj.CJ-23-0954. Online ahead of print. Circ J. 2024. PMID: 38811209
Improvement in gait velocity variability after cerebrospinal fluid elimination and its relationship to clinical symptoms in patients with idiopathic normal pressure hydrocephalus.
Yamamoto T, Fujito R, Chadani Y, Kashibayashi T, Kamimura N, Tsuda A, Akamatsu M, Matsushita T, Yamagami T, Ueba T, Saito M, Inoue K, Izumi M, Kazui H. Yamamoto T, et al. Geriatr Gerontol Int. 2024 May 29. doi: 10.1111/ggi.14915. Online ahead of print. Geriatr Gerontol Int. 2024. PMID: 38810991
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