Chen Y - Search Results

1

CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes.

Zhong H, Chen Y, Li Y, Chen R, Mardon G. Zhong H, et al. Among authors: chen r, chen y. Sci Rep. 2015 Feb 10;5:8366. doi: 10.1038/srep08366. Sci Rep. 2015. PMID: 25666713 Free PMC article.

2

Erratum: CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes.

Zhong H, Chen Y, Li Y, Chen R, Mardon G. Zhong H, et al. Among authors: chen r, chen y. Sci Rep. 2015 Jul 15;5:9731. doi: 10.1038/srep09731. Sci Rep. 2015. PMID: 26177189 Free PMC article. No abstract available.

3

Exome capture sequencing identifies a novel mutation in BBS4.

Wang H, Chen X, Dudinsky L, Patenia C, Chen Y, Li Y, Wei Y, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Gibbs RA, Perkins BD, Chen R. Wang H, et al. Among authors: chen r, chen x, chen y. Mol Vis. 2011;17:3529-40. Epub 2011 Dec 30. Mol Vis. 2011. PMID: 22219648 Free PMC article.

4

optix functions as a link between the retinal determination network and the dpp pathway to control morphogenetic furrow progression in Drosophila.

Li Y, Jiang Y, Chen Y, Karandikar U, Hoffman K, Chattopadhyay A, Mardon G, Chen R. Li Y, et al. Among authors: chen r, chen y. Dev Biol. 2013 Sep 1;381(1):50-61. doi: 10.1016/j.ydbio.2013.06.015. Epub 2013 Jun 20. Dev Biol. 2013. PMID: 23792115 Free PMC article.

5

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.

Eblimit A, Nguyen TM, Chen Y, Esteve-Rudd J, Zhong H, Letteboer S, Van Reeuwijk J, Simons DL, Ding Q, Wu KM, Li Y, Van Beersum S, Moayedi Y, Xu H, Pickard P, Wang K, Gan L, Wu SM, Williams DS, Mardon G, Roepman R, Chen R. Eblimit A, et al. Among authors: chen r, chen y. Hum Mol Genet. 2015 Mar 15;24(6):1584-601. doi: 10.1093/hmg/ddu573. Epub 2014 Nov 14. Hum Mol Genet. 2015. PMID: 25398945 Free PMC article.

6

Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.

Soens ZT, Li Y, Zhao L, Eblimit A, Dharmat R, Li Y, Chen Y, Naqeeb M, Fajardo N, Lopez I, Sun Z, Koenekoop RK, Chen R. Soens ZT, et al. Among authors: chen r, chen y. Genet Med. 2016 Oct;18(10):1044-51. doi: 10.1038/gim.2015.205. Epub 2016 Jan 28. Genet Med. 2016. PMID: 26820066 Free PMC article.

7

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M; Finding of Rare Disease Genes (FORGE) Canada Consortium; Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R. Koenekoop RK, et al. Among authors: chen r, chen y. Nat Genet. 2012 Sep;44(9):1035-9. doi: 10.1038/ng.2356. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842230 Free PMC article.

8

Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes.

Zhao L, Chen Y, Bajaj AO, Eblimit A, Xu M, Soens ZT, Wang F, Ge Z, Jung SY, He F, Li Y, Wensel TG, Qin J, Chen R. Zhao L, et al. Among authors: chen r, chen y. Genome Res. 2016 May;26(5):660-9. doi: 10.1101/gr.198911.115. Epub 2016 Feb 24. Genome Res. 2016. PMID: 26912414 Free PMC article.

9

Onset of atonal expression in Drosophila retinal progenitors involves redundant and synergistic contributions of Ey/Pax6 and So binding sites within two distant enhancers.

Zhou Q, Zhang T, Jemc JC, Chen Y, Chen R, Rebay I, Pignoni F. Zhou Q, et al. Among authors: chen r, chen y. Dev Biol. 2014 Feb 1;386(1):152-64. doi: 10.1016/j.ydbio.2013.11.012. Epub 2013 Nov 16. Dev Biol. 2014. PMID: 24247006 Free PMC article.

10

Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development.

Chen Y, Bartanus J, Liang D, Zhu H, Breman AM, Smith JL, Wang H, Ren Z, Patel A, Stankiewicz P, Cram DS, Cheung SW, Wu L, Yu F. Chen Y, et al. Hum Mutat. 2017 Jun;38(6):669-677. doi: 10.1002/humu.23207. Epub 2017 Mar 29. Hum Mutat. 2017. PMID: 28247551 Free PMC article.

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