Bi W - Search Results

1

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

Yan K, Rousseau J, Littlejohn RO, Kiss C, Lehman A, Rosenfeld JA, Stumpel CTR, Stegmann APA, Robak L, Scaglia F, Nguyen TTM, Fu H, Ajeawung NF, Camurri MV, Li L, Gardham A, Panis B, Almannai M, Sacoto MJG, Baskin B, Ruivenkamp C, Xia F, Bi W; DDD Study; CAUSES Study; Cho MT, Potjer TP, Santen GWE, Parker MJ, Canham N, McKinnon M, Potocki L, MacKenzie JJ, Roeder ER, Campeau PM, Yang XJ. Yan K, et al. Among authors: bi w. Am J Hum Genet. 2017 Jan 5;100(1):91-104. doi: 10.1016/j.ajhg.2016.11.011. Epub 2016 Dec 8. Am J Hum Genet. 2017. PMID: 27939640 Free PMC article.

2

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.

Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR. Bi W, et al. Genome Res. 2002 May;12(5):713-28. doi: 10.1101/gr.73702. Genome Res. 2002. PMID: 11997338 Free PMC article.

3

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

Shaw CJ, Bi W, Lupski JR. Shaw CJ, et al. Among authors: bi w. Am J Hum Genet. 2002 Nov;71(5):1072-81. doi: 10.1086/344346. Epub 2002 Oct 9. Am J Hum Genet. 2002. PMID: 12375235 Free PMC article.

4

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR. Bi W, et al. Am J Hum Genet. 2003 Dec;73(6):1302-15. doi: 10.1086/379979. Epub 2003 Nov 24. Am J Hum Genet. 2003. PMID: 14639526 Free PMC article.

5

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. Yan J, et al. Among authors: bi w. Hum Mol Genet. 2004 Nov 1;13(21):2613-24. doi: 10.1093/hmg/ddh288. Epub 2004 Sep 30. Hum Mol Genet. 2004. PMID: 15459175

6

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. Bi W, et al. Hum Genet. 2004 Nov;115(6):515-24. doi: 10.1007/s00439-004-1187-6. Epub 2004 Sep 30. Hum Genet. 2004. PMID: 15565467

7

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.

Eichers ER, Abd-El-Barr MM, Paylor R, Lewis RA, Bi W, Lin X, Meehan TP, Stockton DW, Wu SM, Lindsay E, Justice MJ, Beales PL, Katsanis N, Lupski JR. Eichers ER, et al. Among authors: bi w. Hum Genet. 2006 Sep;120(2):211-26. doi: 10.1007/s00439-006-0197-y. Epub 2006 Jun 23. Hum Genet. 2006. PMID: 16794820

8

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. Bi W, et al. Am J Med Genet A. 2006 Nov 15;140(22):2454-63. doi: 10.1002/ajmg.a.31510. Am J Med Genet A. 2006. PMID: 17041942

9

Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike.

Yan J, Bi W, Lupski JR. Yan J, et al. Among authors: bi w. Am J Hum Genet. 2007 Mar;80(3):518-25. doi: 10.1086/512043. Epub 2007 Jan 18. Am J Hum Genet. 2007. PMID: 17273973 Free PMC article.

10

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. Potocki L, et al. Among authors: bi w. Am J Hum Genet. 2007 Apr;80(4):633-49. doi: 10.1086/512864. Epub 2007 Feb 26. Am J Hum Genet. 2007. PMID: 17357070 Free PMC article.

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