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Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.

Yuan B, Liu P, Gupta A, Beck CR, Tejomurtula A, Campbell IM, Gambin T, Simmons AD, Withers MA, Harris RA, Rogers J, Schwartz DC, Lupski JR.

PLoS Genet. 2015 Dec 7;11(12):e1005686. doi: 10.1371/journal.pgen.1005686. eCollection 2015 Dec.


Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

Yuan B, Harel T, Gu S, Liu P, Burglen L, Chantot-Bastaraud S, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Malan V, Munnich A, Magoulas PL, Potocki L, Lupski JR.

Am J Hum Genet. 2015 Nov 5;97(5):691-707. doi: 10.1016/j.ajhg.2015.10.003.


17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki-Lupski syndrome.

Sumathipala DS, Mandawala EN, Sumanasena SP, Dissanayake VH.

BMC Res Notes. 2015 Sep 29;8:506. doi: 10.1186/s13104-015-1439-7.


Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment.

Pettigrew KA, Reeves E, Leavett R, Hayiou-Thomas ME, Sharma A, Simpson NH, Martinelli A, Thompson P, Hulme C, Snowling MJ, Newbury DF, Paracchini S.

PLoS One. 2015 Aug 11;10(8):e0134997. doi: 10.1371/journal.pone.0134997. eCollection 2015.


The impact of human copy number variation on gene expression.

Gamazon ER, Stranger BE.

Brief Funct Genomics. 2015 Sep;14(5):352-7. doi: 10.1093/bfgp/elv017. Epub 2015 Apr 27. Review.


Structural variation mutagenesis of the human genome: Impact on disease and evolution.

Lupski JR.

Environ Mol Mutagen. 2015 Apr 17. doi: 10.1002/em.21943. [Epub ahead of print]


PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.

Wang M, Beck CR, English AC, Meng Q, Buhay C, Han Y, Doddapaneni HV, Yu F, Boerwinkle E, Lupski JR, Muzny DM, Gibbs RA.

BMC Genomics. 2015 Mar 19;16:214. doi: 10.1186/s12864-015-1370-2.


Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA.

Sanchez-Jimeno C, Bustamante-Aragonés A, Infantes-Barbero F, Rodriguez De Alba M, Ramos C, Trujillo-Tiebas MJ, Lorda-Sánchez I.

Clin Case Rep. 2014 Dec;2(6):303-9. doi: 10.1002/ccr3.117. Epub 2014 Sep 15.


Opposite effects on facial morphology due to gene dosage sensitivity.

Hammond P, McKee S, Suttie M, Allanson J, Cobben JM, Maas SM, Quarrell O, Smith AC, Lewis S, Tassabehji M, Sisodiya S, Mattina T, Hennekam R.

Hum Genet. 2014 Sep;133(9):1117-25. doi: 10.1007/s00439-014-1455-z. Epub 2014 Jun 3.


Genetic basis of congenital cardiovascular malformations.

Lalani SR, Belmont JW.

Eur J Med Genet. 2014 Aug;57(8):402-13. doi: 10.1016/j.ejmg.2014.04.010. Epub 2014 Apr 30. Review.


A case of 17q21.31 microduplication and 7q31.33 microdeletion, associated with developmental delay, microcephaly, and mild dysmorphic features.

Mc Cormack A, Taylor J, Te Weehi L, Love DR, George AM.

Case Rep Genet. 2014;2014:658570. doi: 10.1155/2014/658570. Epub 2014 Feb 4.


The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.

MacArthur JA, Spector TD, Lindsay SJ, Mangino M, Gill R, Small KS, Hurles ME.

PLoS Genet. 2014 Mar 6;10(3):e1004195. doi: 10.1371/journal.pgen.1004195. eCollection 2014 Mar.


Disorders caused by chromosome abnormalities.

Theisen A, Shaffer LG.

Appl Clin Genet. 2010 Dec 10;3:159-74. doi: 10.2147/TACG.S8884. Print 2010.


Genetic architecture of reciprocal CNVs.

Golzio C, Katsanis N.

Curr Opin Genet Dev. 2013 Jun;23(3):240-8. doi: 10.1016/j.gde.2013.04.013. Epub 2013 Jun 5. Review.


Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1.

Lacaria M, Gu W, Lupski JR.

Am J Med Genet A. 2013 Jul;161A(7):1561-8. doi: 10.1002/ajmg.a.35941. Epub 2013 May 23.


A functional role for structural variation in metabolism.

Lacaria M, Gu W, Lupski JR.

Adipocyte. 2013 Jan 1;2(1):55-57.


Rare copy number variation in cerebral palsy.

McMichael G, Girirajan S, Moreno-De-Luca A, Gecz J, Shard C, Nguyen LS, Nicholl J, Gibson C, Haan E, Eichler E, Martin CL, MacLennan A.

Eur J Hum Genet. 2014 Jan;22(1):40-5. doi: 10.1038/ejhg.2013.93. Epub 2013 May 22.


Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.

Sun Z, Liu P, Jia X, Withers MA, Jin L, Lupski JR, Zhang F.

Hum Mol Genet. 2013 Feb 15;22(4):749-56. doi: 10.1093/hmg/dds482. Epub 2012 Nov 16.


Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns.

Coughlin CR 2nd, Scharer GH, Shaikh TH.

Genome Med. 2012 Oct 30;4(10):80. doi: 10.1186/gm381. eCollection 2012. Review.


Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior.

Heck DH, Gu W, Cao Y, Qi S, Lacaria M, Lupski JR.

Am J Med Genet A. 2012 Nov;158A(11):2807-14. doi: 10.1002/ajmg.a.35601. Epub 2012 Sep 18.

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