JP23ek0109549/Japan Agency for Medical Research and Development[Grants and Funding] - Search Results

Year	Number of Results
2023	4
2024	18

1

Long-term clinical observation of patients with heterozygous KIF1A variants.

Kawashima A, Kodama K, Okubo Y, Endo W, Inui T, Ikeda M, Katata Y, Togashi N, Ohba C, Imagawa E, Iwama K, Mizuguchi T, Kitami M, Aihara Y, Takayama J, Tamiya G, Kikuchi A, Kure S, Saitsu H, Matsumoto N, Haginoya K. Kawashima A, et al. Am J Med Genet A. 2024 Oct;194(10):e63656. doi: 10.1002/ajmg.a.63656. Epub 2024 May 17. Am J Med Genet A. 2024. PMID: 38760879

2

Ocular genetics in the Japanese population.

Hotta Y, Torii K, Takayama M. Hotta Y, et al. Jpn J Ophthalmol. 2024 Sep;68(5):401-418. doi: 10.1007/s10384-024-01109-8. Epub 2024 Sep 14. Jpn J Ophthalmol. 2024. PMID: 39271608 Free PMC article. Review.

3

RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing.

Kawakami R, Hiraide T, Watanabe K, Miyamoto S, Hira K, Komatsu K, Ishigaki H, Sakaguchi K, Maekawa M, Yamashita K, Fukuda T, Miyairi I, Ogata T, Saitsu H. Kawakami R, et al. J Hum Genet. 2024 Feb;69(2):91-99. doi: 10.1038/s10038-023-01211-8. Epub 2023 Dec 15. J Hum Genet. 2024. PMID: 38102195

4

A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities.

Sakamoto M, Kurosawa K, Tanoue K, Iwama K, Ishida F, Watanabe Y, Okamoto N, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Misawa K, Miyatake S, Mizuguchi T, Matsumoto N. Sakamoto M, et al. J Hum Genet. 2024 Feb;69(2):85-90. doi: 10.1038/s10038-023-01209-2. Epub 2023 Nov 30. J Hum Genet. 2024. PMID: 38030753

5

FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients.

Matsushima M, Yaguchi H, Koshimizu E, Kudo A, Shirai S, Matsuoka T, Ura S, Kawashima A, Fukazawa T, Miyatake S, Matsumoto N, Yabe I. Matsushima M, et al. J Neurol. 2024 Jun;271(6):3643-3647. doi: 10.1007/s00415-024-12308-1. Epub 2024 Mar 12. J Neurol. 2024. PMID: 38472396 No abstract available.

6

Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.

Furukawa S, Kato M, Ishiyama A, Kumada T, Yoshida T, Takeshita E, Chong PF, Yamanouchi H, Kotake Y, Kyoda T, Nomura T, Miyata Y, Nakashima M, Saitsu H. Furukawa S, et al. J Hum Genet. 2024 Dec;69(12):629-637. doi: 10.1038/s10038-024-01283-0. Epub 2024 Aug 9. J Hum Genet. 2024. PMID: 39123069

7

Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Inoue Y, Tsuchida N, Kim CA, de Oliveira Stephan B, Castro MAA, Honjo RS, Bertola DR, Uchiyama Y, Hamanaka K, Fujita A, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Matsumoto N. Inoue Y, et al. J Hum Genet. 2024 Apr;69(3-4):163-167. doi: 10.1038/s10038-024-01219-8. Epub 2024 Jan 17. J Hum Genet. 2024. PMID: 38228874

8

Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.

Furukawa S, Kato M, Nomura T, Sumitomo N, Yoneno S, Nakashima M, Saitsu H. Furukawa S, et al. Am J Med Genet A. 2024 Mar;194(3):e63453. doi: 10.1002/ajmg.a.63453. Epub 2023 Oct 23. Am J Med Genet A. 2024. PMID: 37870493

9

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Komatsu K, Kato M, Kubota K, Fukumura S, Yamada K, Hori I, Shimizu K, Miyamoto S, Yamoto K, Hiraide T, Watanabe K, Aoki S, Furukawa S, Hayashi T, Isogai M, Harasaki T, Nakashima M, Saitsu H. Komatsu K, et al. Sci Rep. 2024 Oct 21;14(1):24746. doi: 10.1038/s41598-024-75020-0. Sci Rep. 2024. PMID: 39433808 Free PMC article.

10

A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant.

Ohashi T, Kunimoto H, Nukui J, Teshigawara H, Koyama S, Miyazaki T, Hagihara M, Matsumoto K, Koshimizu E, Tsuchida N, Hamanoue H, Miyatake S, Yachie A, Matsumoto N, Nakajima H. Ohashi T, et al. Int J Hematol. 2024 May;119(5):603-607. doi: 10.1007/s12185-024-03751-x. Epub 2024 Mar 15. Int J Hematol. 2024. PMID: 38489090

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