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Page 1
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: pennacchio la. Hum Genomics. 2021 Jul 13;15(1):44. doi: 10.1186/s40246-021-00342-3. Hum Genomics. 2021. PMID: 34256850 Free PMC 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: pennacchio la. 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. Nature. 2006 Nov 23;444(7118):499-502. doi: 10.1038/nature05295. Epub 2006 Nov 5. Nature. 2006. PMID: 17086198 Free article.
In vivo characterization of human APOA5 haplotypes.
Ahituv N, Akiyama J, Chapman-Helleboid A, Fruchart J, Pennacchio LA. Ahituv N, et al. Among authors: pennacchio la. Genomics. 2007 Dec;90(6):674-9. doi: 10.1016/j.ygeno.2007.08.003. Epub 2007 Oct 23. Genomics. 2007. PMID: 17936576 Free 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: pennacchio la. Science. 2008 Sep 5;321(5894):1346-50. doi: 10.1126/science.1159974. Science. 2008. PMID: 18772437 Free PMC article.
ChIP-seq accurately predicts tissue-specific activity of enhancers.
Visel A, Blow MJ, Li Z, Zhang T, Akiyama JA, Holt A, Plajzer-Frick I, Shoukry M, Wright C, Chen F, Afzal V, Ren B, Rubin EM, Pennacchio LA. Visel A, et al. Among authors: pennacchio la. Nature. 2009 Feb 12;457(7231):854-8. doi: 10.1038/nature07730. Nature. 2009. PMID: 19212405 Free PMC article.
Functional autonomy of distant-acting human enhancers.
Visel A, Akiyama JA, Shoukry M, Afzal V, Rubin EM, Pennacchio LA. Visel A, et al. Among authors: pennacchio la. Genomics. 2009 Jun;93(6):509-13. doi: 10.1016/j.ygeno.2009.02.002. Epub 2009 Mar 5. Genomics. 2009. PMID: 19268701 Free PMC article.
ChIP-Seq identification of weakly conserved heart enhancers.
Blow MJ, McCulley DJ, Li Z, Zhang T, Akiyama JA, Holt A, Plajzer-Frick I, Shoukry M, Wright C, Chen F, Afzal V, Bristow J, Ren B, Black BL, Rubin EM, Visel A, Pennacchio LA. Blow MJ, et al. Among authors: pennacchio la. Nat Genet. 2010 Sep;42(9):806-10. doi: 10.1038/ng.650. Epub 2010 Aug 22. Nat Genet. 2010. PMID: 20729851 Free PMC article.
187 results