Yamamoto T - Search Results

1

Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers.

Yamazaki A, Kuroda T, Kawasaki N, Kato K, Shimojima Yamamoto K, Iwasa T, Kuwahara A, Taniguchi Y, Takeshita T, Kita Y, Mikami M, Irahara M, Yamamoto T. Yamazaki A, et al. Among authors: yamamoto t. J Hum Genet. 2024 Jan;69(1):41-45. doi: 10.1038/s10038-023-01202-9. Epub 2023 Oct 23. J Hum Genet. 2024. PMID: 37872345

2

Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis.

Shimojima K, Okamoto N, Inazu T, Yamamoto T. Shimojima K, et al. Among authors: yamamoto t. J Hum Genet. 2011 Nov;56(11):810-2. doi: 10.1038/jhg.2011.100. Epub 2011 Aug 25. J Hum Genet. 2011. PMID: 21866110

3

Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination.

Shimojima K, Okamoto N, Suzuki Y, Saito M, Mori M, Yamagata T, Momoi MY, Hattori H, Okano Y, Hisata K, Okumura A, Yamamoto T. Shimojima K, et al. Among authors: yamamoto t. J Hum Genet. 2012 Sep;57(9):593-600. doi: 10.1038/jhg.2012.77. Epub 2012 Jun 21. J Hum Genet. 2012. PMID: 22718018

4

Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing.

Imaizumi T, Yamamoto-Shimojima K, Yanagishita T, Ondo Y, Yamamoto T. Imaizumi T, et al. Among authors: yamamoto shimojima k, yamamoto t. J Hum Genet. 2020 Sep;65(9):735-741. doi: 10.1038/s10038-020-0762-6. Epub 2020 Apr 30. J Hum Genet. 2020. PMID: 32355308

5

Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome.

Imaizumi T, Yamamoto-Shimojima K, Yanagishita T, Ondo Y, Nishi E, Okamoto N, Yamamoto T. Imaizumi T, et al. Among authors: yamamoto shimojima k, yamamoto t. Hum Genet. 2020 Dec;139(12):1555-1563. doi: 10.1007/s00439-020-02196-6. Epub 2020 Jun 13. Hum Genet. 2020. PMID: 32535809

6

HECW2-related disorder in four Japanese patients.

Yanagishita T, Hirade T, Shimojima Yamamoto K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T. Yanagishita T, et al. Among authors: yamamoto t. Am J Med Genet A. 2021 Oct;185(10):2895-2902. doi: 10.1002/ajmg.a.62363. Epub 2021 May 28. Am J Med Genet A. 2021. PMID: 34047014

7

Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures.

Shimojima Yamamoto K, Yanagishita T, Yamamoto H, Miyamoto Y, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Yamamoto T. Shimojima Yamamoto K, et al. Among authors: yamamoto h, yamamoto t. Hum Genome Var. 2021 Nov 29;8(1):43. doi: 10.1038/s41439-021-00176-4. Hum Genome Var. 2021. PMID: 34845217 Free PMC article.

8

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.

Eto K, Machida O, Yanagishita T, Shimojima Yamamoto K, Chiba K, Aihara Y, Hasegawa Y, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Nagata S, Yamamoto T. Eto K, et al. Among authors: yamamoto t. Hum Genome Var. 2022 Dec 5;9(1):43. doi: 10.1038/s41439-022-00220-x. Hum Genome Var. 2022. PMID: 36470856 Free PMC article.

9

Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns.

Shimojima Yamamoto K, Tamura T, Okamoto N, Nishi E, Noguchi A, Takahashi I, Sawaishi Y, Shimizu M, Kanno H, Minakuchi Y, Toyoda A, Yamamoto T. Shimojima Yamamoto K, et al. Among authors: yamamoto t. J Hum Genet. 2023 Nov;68(11):751-757. doi: 10.1038/s10038-023-01181-x. Epub 2023 Jul 10. J Hum Genet. 2023. PMID: 37423943

10

Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features.

Shimojima Yamamoto K, Yoshimura A, Yamamoto T. Shimojima Yamamoto K, et al. Among authors: yamamoto t. Hum Genome Var. 2023 Aug 7;10(1):22. doi: 10.1038/s41439-023-00250-z. Hum Genome Var. 2023. PMID: 37550298 Free PMC article.

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