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CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency.
Science. 2019 Jan 18;363(6424):eaau0629. doi: 10.1126/science.aau0629. Epub 2018 Dec 13.
Science. 2019.
PMID: 30545847
Free PMC article.
PDGFRa mutations in humans with isolated cleft palate.
Rattanasopha S, Tongkobpetch S, Srichomthong C, Siriwan P, Suphapeetiporn K, Shotelersuk V.
Rattanasopha S, et al.
Eur J Hum Genet. 2012 Oct;20(10):1058-62. doi: 10.1038/ejhg.2012.55. Epub 2012 Apr 4.
Eur J Hum Genet. 2012.
PMID: 22473090
Free PMC article.
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Massively parallel jumping assay decodes Alu retrotransposition activity.
Matharu N, Zhao J, Sohota A, Deng L, Hung Y, Li Z, Sims J, Rattanasopha S, Meyer J, Carbone L, Kircher M, Ahituv N.
Matharu N, et al. Among authors: rattanasopha s.
bioRxiv [Preprint]. 2024 Apr 19:2024.04.16.589814. doi: 10.1101/2024.04.16.589814.
bioRxiv. 2024.
PMID: 38659854
Free PMC article.
Preprint.
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Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.
Rattanasopha S, Tongkobpetch S, Srichomthong C, Kitidumrongsook P, Suphapeetiporn K, Shotelersuk V.
Rattanasopha S, et al.
J Med Genet. 2014 Dec;51(12):817-23. doi: 10.1136/jmedgenet-2014-102576. Epub 2014 Oct 20.
J Med Genet. 2014.
PMID: 25332435
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