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Year | Number of Results |
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2000 | 1 |
2021 | 1 |
2022 | 2 |
2023 | 2 |
2024 | 1 |
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Page 1
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.
Brain. 2024 May 3;147(5):1899-1913. doi: 10.1093/brain/awae018.
Brain. 2024.
PMID: 38242545
Free PMC article.
Clonally Selected Lines After CRISPR-Cas Editing Are Not Isogenic.
Panda A, Suvakov M, Mariani J, Drucker KL, Park Y, Jang Y, Kollmeyer TM, Sarkar G, Bae T, Kim JJ, Yoon WH, Jenkins RB, Vaccarino FM, Abyzov A.
Panda A, et al.
CRISPR J. 2023 Apr;6(2):176-182. doi: 10.1089/crispr.2022.0050.
CRISPR J. 2023.
PMID: 37071670
Free PMC article.
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Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.
Whittle EF, Chilian M, Karimiani EG, Progri H, Buhas D, Kose M, Ganetzky RD, Toosi MB, Torbati PN, Badv RS, Shelihan I, Yang H, Elloumi HZ, Lee S, Jamshidi Y, Pittman AM, Houlden H, Ignatius E, Rahman S, Maroofian R, Yoon WH, Carroll CJ.
Whittle EF, et al.
Genet Med. 2023 Feb;25(2):100332. doi: 10.1016/j.gim.2022.11.001. Epub 2022 Dec 15.
Genet Med. 2023.
PMID: 36520152
Free PMC article.
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CRISPR/Cas9-mediated tissue-specific knockout and cDNA rescue using sgRNAs that target exon-intron junctions in Drosophila melanogaster.
Chilian M, Vargas Parra K, Sandoval A, Ramirez J, Yoon WH.
Chilian M, et al.
STAR Protoc. 2022 Jun 14;3(3):101465. doi: 10.1016/j.xpro.2022.101465. eCollection 2022 Sep 16.
STAR Protoc. 2022.
PMID: 35719725
Free PMC article.
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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A; SYNaPS Study Group; University of Washington Center for Mendelian Genomics; Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH.
Yap ZY, et al.
Am J Hum Genet. 2021 Dec 2;108(12):2368-2384. doi: 10.1016/j.ajhg.2021.11.003. Epub 2021 Nov 19.
Am J Hum Genet. 2021.
PMID: 34800363
Free PMC article.
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Involvement of two NF-kappa B binding elements in tumor necrosis factor alpha -, CD40-, and epstein-barr virus latent membrane protein 1-mediated induction of the cellular inhibitor of apoptosis protein 2 gene.
Hong SY, Yoon WH, Park JH, Kang SG, Ahn JH, Lee TH.
Hong SY, et al.
J Biol Chem. 2000 Jun 16;275(24):18022-8. doi: 10.1074/jbc.M001202200.
J Biol Chem. 2000.
PMID: 10751398
Free article.
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