Masuno M - Search Results

1

Genetic association analysis of 77,539 genomes reveals rare disease etiologies.

Greene D; Genomics England Research Consortium; Pirri D, Frudd K, Sackey E, Al-Owain M, Giese APJ, Ramzan K, Riaz S, Yamanaka I, Boeckx N, Thys C, Gelb BD, Brennan P, Hartill V, Harvengt J, Kosho T, Mansour S, Masuno M, Ohata T, Stewart H, Taibah K, Turner CLS, Imtiaz F, Riazuddin S, Morisaki T, Ostergaard P, Loeys BL, Morisaki H, Ahmed ZM, Birdsey GM, Freson K, Mumford A, Turro E. Greene D, et al. Among authors: masuno m. Nat Med. 2023 Mar;29(3):679-688. doi: 10.1038/s41591-023-02211-z. Epub 2023 Mar 16. Nat Med. 2023. PMID: 36928819 Free PMC article.

2

A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay.

Moriwaki T, Masuno M, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Takao K, Tawa K, Yamanouchi Y, Miki A, Otomo T. Moriwaki T, et al. Among authors: masuno m. Hum Genome Var. 2023 Oct 16;10(1):27. doi: 10.1038/s41439-023-00255-8. Hum Genome Var. 2023. PMID: 37845262 Free PMC article.

3

A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.

Sofronova V, Fukushima Y, Masuno M, Naka M, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Moriwaki T, Iwata R, Terawaki S, Yamanouchi Y, Otomo T. Sofronova V, et al. Among authors: masuno m. Hum Genome Var. 2022 Jul 25;9(1):26. doi: 10.1038/s41439-022-00203-y. Hum Genome Var. 2022. PMID: 35879281 Free PMC article.

4

Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.

Takahashi Y, Date H, Oi H, Adachi T, Imanishi N, Kimura E, Takizawa H, Kosugi S, Matsumoto N, Kosaki K, Matsubara Y; IRUD Consortium; Mizusawa H. Takahashi Y, et al. J Hum Genet. 2022 Sep;67(9):505-513. doi: 10.1038/s10038-022-01025-0. Epub 2022 Mar 23. J Hum Genet. 2022. PMID: 35318459 Free PMC article.

5

Further delineation of SET-related intellectual disability syndrome.

Shono K, Enomoto Y, Tsurusaki Y, Kumaki T, Masuno M, Kurosawa K. Shono K, et al. Among authors: masuno m. Am J Med Genet A. 2022 May;188(5):1595-1599. doi: 10.1002/ajmg.a.62681. Epub 2022 Feb 5. Am J Med Genet A. 2022. PMID: 35122673

6

6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability.

Ohashi I, Kuroda Y, Enomoto Y, Murakami H, Masuno M, Kurosawa K. Ohashi I, et al. Among authors: masuno m. Clin Dysmorphol. 2021 Jul 1;30(3):139-141. doi: 10.1097/MCD.0000000000000372. Clin Dysmorphol. 2021. PMID: 33758130 No abstract available.

7

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

Murakami H, Tsurusaki Y, Enomoto K, Kuroda Y, Yokoi T, Furuya N, Yoshihashi H, Minatogawa M, Abe-Hatano C, Ohashi I, Nishimura N, Kumaki T, Enomoto Y, Naruto T, Iwasaki F, Harada N, Ishikawa A, Kawame H, Sameshima K, Yamaguchi Y, Kobayashi M, Tominaga M, Ishikiriyama S, Tanaka T, Suzumura H, Ninomiya S, Kondo A, Kaname T, Kosaki K, Masuno M, Kuroki Y, Kurosawa K. Murakami H, et al. Among authors: masuno m. Am J Med Genet A. 2020 Oct;182(10):2333-2344. doi: 10.1002/ajmg.a.61793. Epub 2020 Aug 17. Am J Med Genet A. 2020. PMID: 32803813

8

Novel USP9X variants in two patients with X-linked intellectual disability.

Tsurusaki Y, Kuroda Y, Yamanouchi Y, Kondo E, Ouchi K, Kimura Y, Enomoto Y, Aida N, Masuno M, Kurosawa K. Tsurusaki Y, et al. Among authors: masuno m. Hum Genome Var. 2019 Oct 21;6:49. doi: 10.1038/s41439-019-0081-7. eCollection 2019. Hum Genome Var. 2019. PMID: 31666975 Free PMC article.

9

Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5.

Tominaga M, Hamanoue S, Goto H, Saito T, Nagai JI, Masuno M, Umeda Y, Kurosawa K. Tominaga M, et al. Among authors: masuno m. Hum Genome Var. 2019 Aug 8;6:36. doi: 10.1038/s41439-019-0067-5. eCollection 2019. Hum Genome Var. 2019. PMID: 31645974 Free PMC article.

10

Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2-q41 encompassing cell division cycle protein 73.

Nishimura N, Murakami H, Saito T, Masuno M, Kurosawa K. Nishimura N, et al. Among authors: masuno m. Congenit Anom (Kyoto). 2020 Jul;60(4):128-130. doi: 10.1111/cga.12356. Epub 2019 Oct 21. Congenit Anom (Kyoto). 2020. PMID: 31595586 No abstract available.

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