JP18ek0109301/Japan Agency for Medical Research and Development (AMED)[Grants and Funding] - Search Results

Year	Number of Results
2019	8
2020	2
2021	2
2022	1
2024	0

1

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.

2

De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions.

Ohishi A, Masunaga Y, Iijima S, Yamoto K, Kato F, Fukami M, Saitsu H, Ogata T. Ohishi A, et al. J Hum Genet. 2020 Jan;65(2):181-186. doi: 10.1038/s10038-019-0690-5. Epub 2019 Oct 23. J Hum Genet. 2020. PMID: 31645653

3

A novel de novo frameshift variant in SETD1B causes epilepsy.

Den K, Kato M, Yamaguchi T, Miyatake S, Takata A, Mizuguchi T, Miyake N, Mitsuhashi S, Matsumoto N. Den K, et al. J Hum Genet. 2019 Aug;64(8):821-827. doi: 10.1038/s10038-019-0617-1. Epub 2019 May 20. J Hum Genet. 2019. PMID: 31110234 Review.

4

Comparison of mitochondrial DNA variants detection using short- and long-read sequencing.

Alkanaq AN, Hamanaka K, Sekiguchi F, Taguri M, Takata A, Miyake N, Miyatake S, Mizuguchi T, Matsumoto N. Alkanaq AN, et al. J Hum Genet. 2019 Nov;64(11):1107-1116. doi: 10.1038/s10038-019-0654-9. Epub 2019 Aug 13. J Hum Genet. 2019. PMID: 31409854

5

Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome.

Nishina S, Hosono K, Ishitani S, Kosaki K, Yokoi T, Yoshida T, Tomita K, Fukami M, Saitsu H, Ogata T, Ishitani T, Hotta Y, Azuma N. Nishina S, et al. J Hum Genet. 2021 Oct;66(10):1021-1027. doi: 10.1038/s10038-021-00909-x. Epub 2021 Feb 27. J Hum Genet. 2021. PMID: 33640901 Free PMC article.

6

De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation.

Shimizu D, Sakamoto R, Yamoto K, Saitsu H, Fukami M, Nishimura G, Ogata T. Shimizu D, et al. J Hum Genet. 2019 Oct;64(10):1041-1044. doi: 10.1038/s10038-019-0650-0. Epub 2019 Aug 6. J Hum Genet. 2019. PMID: 31388108

7

Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.

Oda Y, Uchiyama Y, Motomura A, Fujita A, Azuma Y, Harita Y, Mizuguchi T, Yanagi K, Ogata H, Hata K, Kaname T, Matsubara Y, Wakui K, Matsumoto N. Oda Y, et al. J Hum Genet. 2019 Oct;64(10):1005-1014. doi: 10.1038/s10038-019-0641-1. Epub 2019 Jul 16. J Hum Genet. 2019. PMID: 31311986

8

Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism.

Haque MN, Ohtsubo M, Nishina S, Nakao S, Yoshida K, Hosono K, Kurata K, Ohishi K, Fukami M, Sato M, Hotta Y, Azuma N, Minoshima S. Haque MN, et al. J Hum Genet. 2021 Feb;66(2):205-214. doi: 10.1038/s10038-020-00836-3. Epub 2020 Sep 9. J Hum Genet. 2021. PMID: 32908217

9

Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1.

Saida K, Kim CA, Ceroni JRM, Bertola DR, Honjo RS, Mitsuhashi S, Takata A, Mizuguchi T, Miyatake S, Miyake N, Matsumoto N. Saida K, et al. J Hum Genet. 2019 Sep;64(9):885-890. doi: 10.1038/s10038-019-0626-0. Epub 2019 Jul 4. J Hum Genet. 2019. PMID: 31270375

10

Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant.

Uchiyama Y, Kim CA, Pastorino AC, Ceroni J, Lima PP, de Barros Dorna M, Honjo RS, Bertola D, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Uchiyama Y, et al. J Hum Genet. 2019 Sep;64(9):955-960. doi: 10.1038/s10038-019-0631-3. Epub 2019 Jun 18. J Hum Genet. 2019. PMID: 31213653

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