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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Neuron. 2011 Jun 9;70(5):863-85. doi: 10.1016/j.neuron.2011.05.002.
Neuron. 2011.
PMID: 21658581
Free PMC article.
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.
Dong S, Walker MF, Carriero NJ, DiCola M, Willsey AJ, Ye AY, Waqar Z, Gonzalez LE, Overton JD, Frahm S, Keaney JF 3rd, Teran NA, Dea J, Mandell JD, Hus Bal V, Sullivan CA, DiLullo NM, Khalil RO, Gockley J, Yuksel Z, Sertel SM, Ercan-Sencicek AG, Gupta AR, Mane SM, Sheldon M, Brooks AI, Roeder K, Devlin B, State MW, Wei L, Sanders SJ.
Dong S, et al. Among authors: dicola m.
Cell Rep. 2014 Oct 9;9(1):16-23. doi: 10.1016/j.celrep.2014.08.068. Epub 2014 Oct 2.
Cell Rep. 2014.
PMID: 25284784
Free PMC article.
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Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome.
Davis BR, Dicola MJ, Prokopishyn NL, Rosenberg JB, Moratto D, Muul LM, Candotti F, Michael Blaese R.
Davis BR, et al. Among authors: dicola mj.
Blood. 2008 May 15;111(10):5064-7. doi: 10.1182/blood-2007-06-095299. Epub 2008 Mar 10.
Blood. 2008.
PMID: 18332229
Free PMC article.
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Mode of action of RNA/DNA oligonucleotides: progress in the development of gene repair as a therapy for alpha(1)-antitrypsin deficiency.
Metz R, DiCola M, Kurihara T, Bailey A, Frank B, Roecklein B, Blaese M.
Metz R, et al. Among authors: dicola m.
Chest. 2002 Mar;121(3 Suppl):91S-97S. doi: 10.1378/chest.121.3_suppl.91s.
Chest. 2002.
PMID: 11893721
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