Yan J - Search Results

1

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. Among authors: yan j. Genome Res. 2002 May;12(5):713-28. doi: 10.1101/gr.73702. Genome Res. 2002. PMID: 11997338 Free PMC article.

2

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. 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

3

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. 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.

4

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: yan j. 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.

5

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. Among authors: yan j. 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

6

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. Walz K, et al. Among authors: yan j. J Clin Invest. 2006 Nov;116(11):3035-41. doi: 10.1172/JCI28953. Epub 2006 Oct 5. J Clin Invest. 2006. PMID: 17024248 Free PMC article.

7

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. Lacaria M, et al. Among authors: yan j. PLoS Genet. 2012;8(5):e1002713. doi: 10.1371/journal.pgen.1002713. Epub 2012 May 24. PLoS Genet. 2012. PMID: 22654670 Free PMC article.

8

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

Loviglio MN, Beck CR, White JJ, Leleu M, Harel T, Guex N, Niknejad A, Bi W, Chen ES, Crespo I, Yan J, Charng WL, Gu S, Fang P, Coban-Akdemir Z, Shaw CA, Jhangiani SN, Muzny DM, Gibbs RA, Rougemont J, Xenarios I, Lupski JR, Reymond A. Loviglio MN, et al. Among authors: yan j. Genome Med. 2016 Nov 1;8(1):105. doi: 10.1186/s13073-016-0359-z. Genome Med. 2016. PMID: 27799067 Free PMC article.

9

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. Yan J, et al. Mol Cell Biol. 2003 Oct;23(19):6798-808. doi: 10.1128/MCB.23.19.6798-6808.2003. Mol Cell Biol. 2003. PMID: 12972600 Free PMC article.

10

Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.

Bi W, Yan J, Shi X, Yuva-Paylor LA, Antalffy BA, Goldman A, Yoo JW, Noebels JL, Armstrong DL, Paylor R, Lupski JR. Bi W, et al. Among authors: yan j. Hum Mol Genet. 2007 Aug 1;16(15):1802-13. doi: 10.1093/hmg/ddm128. Epub 2007 May 21. Hum Mol Genet. 2007. PMID: 17517686

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