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RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR.

Am J Med Genet A. 2006 Nov 15;140(22):2454-63.


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.


Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

Girirajan S, Vlangos CN, Szomju BB, Edelman E, Trevors CD, Dupuis L, Nezarati M, Bunyan DJ, Elsea SH.

Genet Med. 2006 Jul;8(7):417-27.


DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR, Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K, FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S, Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G, Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P, Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J, Nguyen C, Nicol R, O'Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J, Lander ES, Nusbaum C.

Nature. 2006 Apr 20;440(7087):1045-9.


The adaptor protein Tom1L1 is a negative regulator of Src mitogenic signaling induced by growth factors.

Franco M, Furstoss O, Simon V, Benistant C, Hong WJ, Roche S.

Mol Cell Biol. 2006 Mar;26(5):1932-47.


Recruitment of clathrin onto endosomes by the Tom1-Tollip complex.

Katoh Y, Imakagura H, Futatsumori M, Nakayama K.

Biochem Biophys Res Commun. 2006 Mar 3;341(1):143-9. Epub 2006 Jan 6.


Discriminating power of localized three-dimensional facial morphology.

Hammond P, Hutton TJ, Allanson JE, Buxton B, Campbell LE, Clayton-Smith J, Donnai D, Karmiloff-Smith A, Metcalfe K, Murphy KC, Patton M, Pober B, Prescott K, Scambler P, Shaw A, Smith AC, Stevens AF, Temple IK, Hennekam R, Tassabehji M.

Am J Hum Genet. 2005 Dec;77(6):999-1010. Epub 2005 Oct 26.


GTF2IRD1 in craniofacial development of humans and mice.

Tassabehji M, Hammond P, Karmiloff-Smith A, Thompson P, Thorgeirsson SS, Durkin ME, Popescu NC, Hutton T, Metcalfe K, Rucka A, Stewart H, Read AP, Maconochie M, Donnai D.

Science. 2005 Nov 18;310(5751):1184-7. Epub 2005 Nov 3.


Evaluation of regulatory potential and conservation scores for detecting cis-regulatory modules in aligned mammalian genome sequences.

King DC, Taylor J, Elnitski L, Chiaromonte F, Miller W, Hardison RC.

Genome Res. 2005 Aug;15(8):1051-60. Epub 2005 Jul 15.


RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

Girirajan S, Elsas LJ 2nd, Devriendt K, Elsea SH.

J Med Genet. 2005 Nov;42(11):820-8. Epub 2005 Mar 23.


Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome.

Bi W, Ohyama T, Nakamura H, Yan J, Visvanathan J, Justice MJ, Lupski JR.

Hum Mol Genet. 2005 Apr 15;14(8):983-95. Epub 2005 Mar 3.


Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.

Bi W, Saifi GM, Shaw CJ, Walz K, Fonseca P, Wilson M, Potocki L, Lupski JR.

Hum Genet. 2004 Nov;115(6):515-24. Epub 2004 Sep 30.


Long-range control of gene expression: emerging mechanisms and disruption in disease.

Kleinjan DA, van Heyningen V.

Am J Hum Genet. 2005 Jan;76(1):8-32. Epub 2004 Nov 17. Review.


Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.

Yan J, Keener VW, Bi W, Walz K, Bradley A, Justice MJ, Lupski JR.

Hum Mol Genet. 2004 Nov 1;13(21):2613-24. Epub 2004 Sep 30.


Dexras1 potentiates photic and suppresses nonphotic responses of the circadian clock.

Cheng HY, Obrietan K, Cain SW, Lee BY, Agostino PV, Joza NA, Harrington ME, Ralph MR, Penninger JM.

Neuron. 2004 Sep 2;43(5):715-28.


Regulatory potential scores from genome-wide three-way alignments of human, mouse, and rat.

Kolbe D, Taylor J, Elnitski L, Eswara P, Li J, Miller W, Hardison R, Chiaromonte F.

Genome Res. 2004 Apr;14(4):700-7.


A mammalian mediator subunit that shares properties with Saccharomyces cerevisiae mediator subunit Cse2.

Tomomori-Sato C, Sato S, Parmely TJ, Banks CA, Sorokina I, Florens L, Zybailov B, Washburn MP, Brower CS, Conaway RC, Conaway JW.

J Biol Chem. 2004 Feb 13;279(7):5846-51. Epub 2003 Nov 24.


Genomic regulatory regions: insights from comparative sequence analysis.

Cooper GM, Sidow A.

Curr Opin Genet Dev. 2003 Dec;13(6):604-10. Review.


Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].

Potocki L, Shaw CJ, Stankiewicz P, Lupski JR.

Genet Med. 2003 Nov-Dec;5(6):430-4.


COP9 signalosome subunit 3 is essential for maintenance of cell proliferation in the mouse embryonic epiblast.

Yan J, Walz K, Nakamura H, Carattini-Rivera S, Zhao Q, Vogel H, Wei N, Justice MJ, Bradley A, Lupski JR.

Mol Cell Biol. 2003 Oct;23(19):6798-808.

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