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Items: 9


Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.

Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR.

Nat Genet. 2011 Oct 2;43(11):1074-81. doi: 10.1038/ng.944.


Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literature.

Castronovo C, Crippa M, Bestetti I, Rusconi D, Russo S, Larizza L, Sangermani R, Bonati MT, Finelli P.

Am J Med Genet A. 2015 Jan;167A(1):221-30. doi: 10.1002/ajmg.a.36815. Epub 2014 Oct 22. Review.


Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.

Shaw CJ, Lupski JR.

Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R57-64. Epub 2004 Feb 5. Review.


Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement.

Vera-Carbonell A, López-Expósito I, Bafalliu JA, Ballesta-Martínez M, Glóver G, Llópis C, Moya-Quiles R, Suela J, Fernández A, Guillén-Navarro E.

Am J Med Genet A. 2010 Oct;152A(10):2670-80. doi: 10.1002/ajmg.a.33613. Review.


Human Structural Variation: Mechanisms of Chromosome Rearrangements.

Weckselblatt B, Rudd MK.

Trends Genet. 2015 Oct;31(10):587-99. doi: 10.1016/j.tig.2015.05.010. Epub 2015 Jul 22. Review.


Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.

Lupski JR, Stankiewicz P.

PLoS Genet. 2005 Dec;1(6):e49. Review.


Genome architecture, rearrangements and genomic disorders.

Stankiewicz P, Lupski JR.

Trends Genet. 2002 Feb;18(2):74-82. Review.


Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.

Carvalho CM, Zhang F, Lupski JR.

Proc Natl Acad Sci U S A. 2010 Jan 26;107 Suppl 1:1765-71. doi: 10.1073/pnas.0906222107. Epub 2010 Jan 13. Review.


Structural variation of the human genome: mechanisms, assays, and role in male infertility.

Carvalho CM, Zhang F, Lupski JR.

Syst Biol Reprod Med. 2011 Feb;57(1-2):3-16. doi: 10.3109/19396368.2010.527427. Epub 2011 Jan 6. Review.

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