Bi W - Search Results

1

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P. Zhang J, et al. Among authors: bi w. Hum Genet. 2017 Apr;136(4):377-386. doi: 10.1007/s00439-017-1763-1. Epub 2017 Mar 1. Hum Genet. 2017. PMID: 28251352 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

Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.

Park SS, Stankiewicz P, Bi W, Shaw C, Lehoczky J, Dewar K, Birren B, Lupski JR. Park SS, et al. Among authors: bi w. Genome Res. 2002 May;12(5):729-38. doi: 10.1101/gr.82802. Genome Res. 2002. PMID: 11997339 Free PMC article.

4

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.

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. Walz K, et al. Among authors: bi w. Mol Cell Biol. 2003 May;23(10):3646-55. doi: 10.1128/MCB.23.10.3646-3655.2003. Mol Cell Biol. 2003. PMID: 12724422 Free PMC article.

6

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.

7

Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.

Stankiewicz P, Inoue K, Bi W, Walz K, Park SS, Kurotaki N, Shaw CJ, Fonseca P, Yan J, Lee JA, Khajavi M, Lupski JR. Stankiewicz P, et al. Among authors: bi w. Cold Spring Harb Symp Quant Biol. 2003;68:445-54. doi: 10.1101/sqb.2003.68.445. Cold Spring Harb Symp Quant Biol. 2003. PMID: 15338647 Review. No abstract available.

8

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

9

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

10

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. Bi W, et al. Hum Mol Genet. 2005 Apr 15;14(8):983-95. doi: 10.1093/hmg/ddi085. Epub 2005 Mar 3. Hum Mol Genet. 2005. PMID: 15746153

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