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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: afzal v. 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.
Megabase deletions of gene deserts result in viable mice.
Nóbrega MA, Zhu Y, Plajzer-Frick I, Afzal V, Rubin EM. Nóbrega MA, et al. Among authors: afzal v. Nature. 2004 Oct 21;431(7011):988-93. doi: 10.1038/nature03022. Nature. 2004. PMID: 15496924 Free article.
In vivo characterization of a vertebrate ultraconserved enhancer.
Poulin F, Nobrega MA, Plajzer-Frick I, Holt A, Afzal V, Rubin EM, Pennacchio LA. Poulin F, et al. Among authors: afzal v. Genomics. 2005 Jun;85(6):774-81. doi: 10.1016/j.ygeno.2005.03.003. Epub 2005 Apr 15. Genomics. 2005. PMID: 15885503
In vivo enhancer analysis of human conserved non-coding sequences.
Pennacchio LA, Ahituv N, Moses AM, Prabhakar S, Nobrega MA, Shoukry M, Minovitsky S, Dubchak I, Holt A, Lewis KD, Plajzer-Frick I, Akiyama J, De Val S, Afzal V, Black BL, Couronne O, Eisen MB, Visel A, Rubin EM. Pennacchio LA, et al. Among authors: afzal v. Nature. 2006 Nov 23;444(7118):499-502. doi: 10.1038/nature05295. Epub 2006 Nov 5. Nature. 2006. PMID: 17086198 Free article.
Deletion of ultraconserved elements yields viable mice.
Ahituv N, Zhu Y, Visel A, Holt A, Afzal V, Pennacchio LA, Rubin EM. Ahituv N, et al. Among authors: afzal v. PLoS Biol. 2007 Sep;5(9):e234. doi: 10.1371/journal.pbio.0050234. PLoS Biol. 2007. PMID: 17803355 Free PMC article.
Human-specific gain of function in a developmental enhancer.
Prabhakar S, Visel A, Akiyama JA, Shoukry M, Lewis KD, Holt A, Plajzer-Frick I, Morrison H, Fitzpatrick DR, Afzal V, Pennacchio LA, Rubin EM, Noonan JP. Prabhakar S, et al. Among authors: afzal v. Science. 2008 Sep 5;321(5894):1346-50. doi: 10.1126/science.1159974. Science. 2008. PMID: 18772437 Free PMC article.
81 results