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Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.

Ricard G, Molina J, Chrast J, Gu W, Gheldof N, Pradervand S, Sch├╝tz F, Young JI, Lupski JR, Reymond A, Walz K.

PLoS Biol. 2010 Nov 23;8(11):e1000543. doi: 10.1371/journal.pbio.1000543.


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.


A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.

Lacaria M, Saha P, Potocki L, Bi W, Yan J, Girirajan S, Burns B, Elsea S, Walz K, Chan L, Lupski JR, Gu W.

PLoS Genet. 2012;8(5):e1002713. doi: 10.1371/journal.pgen.1002713. Epub 2012 May 24.


Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes.

Carmona-Mora P, Molina J, Encina CA, Walz K.

Curr Genomics. 2009 Jun;10(4):259-68. doi: 10.2174/138920209788488508.


Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome.

Lee CG, Park SJ, Yun JN, Yim SY, Sohn YB.

J Korean Med Sci. 2012 Dec;27(12):1586-90. doi: 10.3346/jkms.2012.27.12.1586. Epub 2012 Dec 7.


Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.

Liu P, Lacaria M, Zhang F, Withers M, Hastings PJ, Lupski JR.

Am J Hum Genet. 2011 Oct 7;89(4):580-8. doi: 10.1016/j.ajhg.2011.09.009.


Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.

Goh ES, Perez IC, Canales CP, Ruiz P, Agatep R, Yoon G, Chitayat D, Dror Y, Shago M, Goobie S, Sgro M, Walz K, Mendoza-Londono R.

Am J Med Genet A. 2012 Jul;158A(7):1579-88. doi: 10.1002/ajmg.a.35399. Epub 2012 May 25.


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.


Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits.

Lacaria M, Spencer C, Gu W, Paylor R, Lupski JR.

Hum Mol Genet. 2012 Jul 15;21(14):3083-96. doi: 10.1093/hmg/dds124. Epub 2012 Apr 5.


Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain.

Chen L, Tao Y, Song F, Yuan X, Wang J, Saffen D.

Sci Rep. 2016 Jan 8;6:19010. doi: 10.1038/srep19010.


Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior.

Carmona-Mora P, Walz K.

Curr Genomics. 2010 Dec;11(8):607-17. doi: 10.2174/138920210793360952.


Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism.

Gulhan Ercan-Sencicek A, Davis Wright NR, Frost SJ, Fulbright RK, Felsenfeld S, Hart L, Landi N, Einar Mencl W, Sanders SJ, Pugh KR, State MW, Grigorenko EL.

Brain Dev. 2012 Sep;34(8):700-3. doi: 10.1016/j.braindev.2011.11.003. Epub 2011 Dec 16.


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.


Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis.

Alaimo JT, Mullegama SV, Thomas MA, Elsea SH.

Mol Cytogenet. 2015 Oct 5;8:75. doi: 10.1186/s13039-015-0179-7. eCollection 2015.


Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.

Magoulas PL, Liu P, Gelowani V, Soler-Alfonso C, Kivuva EC, Lupski JR, Potocki L.

Am J Med Genet A. 2014 Feb;164A(2):500-4. doi: 10.1002/ajmg.a.36287. Epub 2013 Dec 5. Review.


Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).

Walz K, Paylor R, Yan J, Bi W, Lupski JR.

J Clin Invest. 2006 Nov;116(11):3035-41. Epub 2006 Oct 5.


Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.

Walz K, Caratini-Rivera S, Bi W, Fonseca P, Mansouri DL, Lynch J, Vogel H, Noebels JL, Bradley A, Lupski JR.

Mol Cell Biol. 2003 May;23(10):3646-55.


Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).

Walz K, Spencer C, Kaasik K, Lee CC, Lupski JR, Paylor R.

Hum Mol Genet. 2004 Feb 15;13(4):367-78. Epub 2004 Jan 6.


Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.

Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR.

Am J Hum Genet. 2010 Mar 12;86(3):462-70. doi: 10.1016/j.ajhg.2010.02.001. Epub 2010 Feb 25.


A functional role for structural variation in metabolism.

Lacaria M, Gu W, Lupski JR.

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

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