Kosaki K - Search Results

1

Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data.

Shiraishi Y, Okada A, Chiba K, Kawachi A, Omori I, Mateos RN, Iida N, Yamauchi H, Kosaki K, Yoshimi A. Shiraishi Y, et al. Among authors: kosaki k. Nat Commun. 2022 Sep 29;13(1):5357. doi: 10.1038/s41467-022-32887-9. Nat Commun. 2022. PMID: 36175409 Free PMC article.

2

Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese.

Okada Y, Momozawa Y, Sakaue S, Kanai M, Ishigaki K, Akiyama M, Kishikawa T, Arai Y, Sasaki T, Kosaki K, Suematsu M, Matsuda K, Yamamoto K, Kubo M, Hirose N, Kamatani Y. Okada Y, et al. Among authors: kosaki k. Nat Commun. 2018 Apr 24;9(1):1631. doi: 10.1038/s41467-018-03274-0. Nat Commun. 2018. PMID: 29691385 Free PMC article.

3

Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders.

Yamada M, Suzuki H, Shiraishi Y, Kosaki K. Yamada M, et al. Among authors: kosaki k. Mol Genet Metab Rep. 2019 Oct 23;21:100531. doi: 10.1016/j.ymgmr.2019.100531. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31687339 Free PMC article.

4

Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities.

Yamada M, Shiraishi Y, Uehara T, Suzuki H, Takenouchi T, Abe-Hatano C, Kurosawa K, Kosaki K. Yamada M, et al. Among authors: kosaki k. Mol Genet Genomic Med. 2020 Sep;8(9):e1364. doi: 10.1002/mgg3.1364. Epub 2020 Jun 26. Mol Genet Genomic Med. 2020. PMID: 32588992 Free PMC article.

5

Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.

Yang L, Fujinami K, Ueno S, Kuniyoshi K, Hayashi T, Kondo M, Mizota A, Naoi N, Shinoda K, Kameya S, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Kominami T, Terasaki H, Sakuramoto H, Katagiri S, Mizobuchi K, Nakamura N, Mawatari G, Kurihara T, Tsubota K, Miyake Y, Yoshitake K, Iwata T, Tsunoda K; JEGC study group. Yang L, et al. Sci Rep. 2020 Mar 26;10(1):5497. doi: 10.1038/s41598-020-62119-3. Sci Rep. 2020. PMID: 32218477 Free PMC article.

6

Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes.

Kosaki R, Kubota M, Uehara T, Suzuki H, Takenouchi T, Kosaki K. Kosaki R, et al. Among authors: kosaki k. Am J Med Genet A. 2020 Jul;182(7):1601-1607. doi: 10.1002/ajmg.a.61589. Epub 2020 May 5. Am J Med Genet A. 2020. PMID: 32369273

7

Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients.

Suzuki H, Yamada M, Uehara T, Takenouchi T, Kosaki K. Suzuki H, et al. Among authors: kosaki k. Am J Med Genet A. 2020 Nov;182(11):2529-2532. doi: 10.1002/ajmg.a.61822. Epub 2020 Aug 11. Am J Med Genet A. 2020. PMID: 32779332 Free PMC article.

8

TNFRSF13B c.226G>A (p.Gly76Ser) as a Novel Causative Mutation for Pulmonary Arterial Hypertension.

Shinya Y, Hiraide T, Momoi M, Goto S, Suzuki H, Katsumata Y, Kurebayashi Y, Endo J, Sano M, Fukuda K, Kosaki K, Kataoka M. Shinya Y, et al. Among authors: kosaki k. J Am Heart Assoc. 2021 Feb;10(5):e019245. doi: 10.1161/JAHA.120.019245. Epub 2021 Feb 15. J Am Heart Assoc. 2021. PMID: 33586470 Free PMC article.

9

Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.

Yamada M, Ono M, Ishii T, Suzuki H, Uehara T, Takenouchi T, Kosaki K. Yamada M, et al. Among authors: kosaki k. Am J Med Genet A. 2021 Jun;185(6):1836-1840. doi: 10.1002/ajmg.a.62152. Epub 2021 Mar 1. Am J Med Genet A. 2021. PMID: 33650182

10

Four pedigrees with aminoacyl-tRNA synthetase abnormalities.

Okamoto N, Miya F, Tsunoda T, Kanemura Y, Saitoh S, Kato M, Yanagi K, Kaname T, Kosaki K. Okamoto N, et al. Among authors: kosaki k. Neurol Sci. 2022 Apr;43(4):2765-2774. doi: 10.1007/s10072-021-05626-z. Epub 2021 Sep 28. Neurol Sci. 2022. PMID: 34585293

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