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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: nomura y. 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.
The COVID-19 pandemic-induced behavioral restrictions and their impact on child and adolescent psychiatric units-Infection control or freedom.
Usami M, Sasaki Y, Ichikawa M, Matsudo M, Ohashi M, Higashino Y, Kono Y, Matsudo H, Nomura Y, Ma M, Sakoh Y, Odaka M, Itagaki K, Yamamoto K, Takahashi M, Yoshimura Y, Inoue S, Ishida M, Inazaki K, Hakoshima Y, Mizumoto Y. Usami M, et al. Among authors: nomura y. PCN Rep. 2024 Dec 17;3(4):e70047. doi: 10.1002/pcn5.70047. eCollection 2024 Dec. PCN Rep. 2024. PMID: 39697485 Free PMC article.
Deep generative abnormal lesion emphasization validated by nine radiologists and 1000 chest X-rays with lung nodules.
Hanaoka S, Nomura Y, Hayashi N, Sato I, Miki S, Yoshikawa T, Shibata H, Nakao T, Takenaga T, Koyama H, Cho S, Kanemaru N, Fujimoto K, Sakamoto N, Nishiyama T, Matsuzaki H, Yamamichi N, Abe O. Hanaoka S, et al. Among authors: nomura y. PLoS One. 2024 Dec 12;19(12):e0315646. doi: 10.1371/journal.pone.0315646. eCollection 2024. PLoS One. 2024. PMID: 39666722 Free PMC article.
2,957 results