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Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Padhi EM, Hayeck TJ, Cheng Z, Chatterjee S, Mannion BJ, Byrska-Bishop M, Willems M, Pinson L, Redon S, Benech C, Uguen K, Audebert-Bellanger S, Le Marechal C, Férec C, Efthymiou S, Rahman F, Maqbool S, Maroofian R, Houlden H, Musunuri R, Narzisi G, Abhyankar A, Hunter RD, Akiyama J, Fries LE, Ng JK, Mehinovic E, Stong N, Allen AS, Dickel DE, Bernier RA, Gorkin DU, Pennacchio LA, Zody MC, Turner TN. Padhi EM, et al. Among authors: dickel de. Hum Genomics. 2021 Jul 13;15(1):44. doi: 10.1186/s40246-021-00342-3. Hum Genomics. 2021. PMID: 34256850 Free PMC article.
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Nord AS, Roeb W, Dickel DE, Walsh T, Kusenda M, O'Connor KL, Malhotra D, McCarthy SE, Stray SM, Taylor SM, Sebat J; STAART Psychopharmacology Network; King B, King MC, McClellan JM. Nord AS, et al. Among authors: dickel de. Eur J Hum Genet. 2011 Jun;19(6):727-31. doi: 10.1038/ejhg.2011.24. Epub 2011 Mar 30. Eur J Hum Genet. 2011. PMID: 21448237 Free PMC article.
Functional anatomy of distant-acting mammalian enhancers.
Dickel DE, Visel A, Pennacchio LA. Dickel DE, et al. Philos Trans R Soc Lond B Biol Sci. 2013 May 6;368(1620):20120359. doi: 10.1098/rstb.2012.0359. Print 2013. Philos Trans R Soc Lond B Biol Sci. 2013. PMID: 23650633 Free PMC article. Review.
Genome-wide compendium and functional assessment of in vivo heart enhancers.
Dickel DE, Barozzi I, Zhu Y, Fukuda-Yuzawa Y, Osterwalder M, Mannion BJ, May D, Spurrell CH, Plajzer-Frick I, Pickle CS, Lee E, Garvin TH, Kato M, Akiyama JA, Afzal V, Lee AY, Gorkin DU, Ren B, Rubin EM, Visel A, Pennacchio LA. Dickel DE, et al. Nat Commun. 2016 Oct 5;7:12923. doi: 10.1038/ncomms12923. Nat Commun. 2016. PMID: 27703156 Free PMC article.
Progressive Loss of Function in a Limb Enhancer during Snake Evolution.
Kvon EZ, Kamneva OK, Melo US, Barozzi I, Osterwalder M, Mannion BJ, Tissières V, Pickle CS, Plajzer-Frick I, Lee EA, Kato M, Garvin TH, Akiyama JA, Afzal V, Lopez-Rios J, Rubin EM, Dickel DE, Pennacchio LA, Visel A. Kvon EZ, et al. Among authors: dickel de. Cell. 2016 Oct 20;167(3):633-642.e11. doi: 10.1016/j.cell.2016.09.028. Cell. 2016. PMID: 27768887 Free PMC article.
Germline Chd8 haploinsufficiency alters brain development in mouse.
Gompers AL, Su-Feher L, Ellegood J, Copping NA, Riyadh MA, Stradleigh TW, Pride MC, Schaffler MD, Wade AA, Catta-Preta R, Zdilar I, Louis S, Kaushik G, Mannion BJ, Plajzer-Frick I, Afzal V, Visel A, Pennacchio LA, Dickel DE, Lerch JP, Crawley JN, Zarbalis KS, Silverman JL, Nord AS. Gompers AL, et al. Among authors: dickel de. Nat Neurosci. 2017 Aug;20(8):1062-1073. doi: 10.1038/nn.4592. Epub 2017 Jun 26. Nat Neurosci. 2017. PMID: 28671691 Free PMC article.
Limb-Enhancer Genie: An accessible resource of accurate enhancer predictions in the developing limb.
Monti R, Barozzi I, Osterwalder M, Lee E, Kato M, Garvin TH, Plajzer-Frick I, Pickle CS, Akiyama JA, Afzal V, Beerenwinkel N, Dickel DE, Visel A, Pennacchio LA. Monti R, et al. Among authors: dickel de. PLoS Comput Biol. 2017 Aug 21;13(8):e1005720. doi: 10.1371/journal.pcbi.1005720. eCollection 2017 Aug. PLoS Comput Biol. 2017. PMID: 28827824 Free PMC article.
61 results