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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.
Encoding of self-initiated actions in axon terminals of the mesocortical pathway.
Ohtake M, Abe K, Hasegawa M, Itokazu T, Selvakumar V, Matunis A, Stacy E, Froeblich E, Huynh N, Lee H, Kambe Y, Yamamoto T, Sato TK, Sato TR. Ohtake M, et al. Among authors: yamamoto t. Neurophotonics. 2024 Jul;11(3):033408. doi: 10.1117/1.NPh.11.3.033408. Epub 2024 May 9. Neurophotonics. 2024. PMID: 38726349 Free PMC article.
Immunohistochemical and Morphometric Assessment on the Biological Function and Vascular Endothelial Cells in the Initial Process of Cortical Porosity in Mice With PTH Administration.
Abe M, Hasegawa T, Hongo H, Yamamoto T, Shi Y, Cui J, Liu X, Yao Q, Ishizu H, Maruoka H, Yoshino H, Haraguchi-Kitakamae M, Shimizu T, Amizuka N. Abe M, et al. Among authors: yamamoto t. J Histochem Cytochem. 2024 May 10:221554241247883. doi: 10.1369/00221554241247883. Online ahead of print. J Histochem Cytochem. 2024. PMID: 38725403
Guidance for performance, utilization, and education of cardiac and lung point-of-care ultrasonography from the Japanese Society of Echocardiography.
Yamada H, Ohara T, Abe Y, Iwano H, Onishi T, Katabami K, Takigiku K, Tada A, Tanigushi H, Mihara H, Yamamoto T, Maeda K, Wada Y; Guideline Committee of the Japanese Society of Echocardiography. Yamada H, et al. Among authors: yamamoto t. J Echocardiogr. 2024 May 9. doi: 10.1007/s12574-024-00649-9. Online ahead of print. J Echocardiogr. 2024. PMID: 38722468 Review.
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