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Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons.
Chai JH, Locke DP, Greally JM, Knoll JH, Ohta T, Dunai J, Yavor A, Eichler EE, Nicholls RD. Chai JH, et al. Am J Hum Genet. 2003 Oct;73(4):898-925. doi: 10.1086/378816. Epub 2003 Sep 23. Am J Hum Genet. 2003. PMID: 14508708 Free PMC article.
A model system to study genomic imprinting of human genes.
Gabriel JM, Higgins MJ, Gebuhr TC, Shows TB, Saitoh S, Nicholls RD. Gabriel JM, et al. Proc Natl Acad Sci U S A. 1998 Dec 8;95(25):14857-62. doi: 10.1073/pnas.95.25.14857. Proc Natl Acad Sci U S A. 1998. PMID: 9843980 Free PMC article.