Chen R - Search Results

1

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R; FORGE Canada Consortium; Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB. Enns GM, et al. Among authors: chen r. Genet Med. 2014 Oct;16(10):751-8. doi: 10.1038/gim.2014.22. Epub 2014 Mar 20. Genet Med. 2014. PMID: 24651605 Free PMC article.

2

A clone-array pooled shotgun strategy for sequencing large genomes.

Cai WW, Chen R, Gibbs RA, Bradley A. Cai WW, et al. Among authors: chen r. Genome Res. 2001 Oct;11(10):1619-23. doi: 10.1101/gr.198101. Genome Res. 2001. PMID: 11591638 Free article.

3

Comparing vertebrate whole-genome shotgun reads to the human genome.

Chen R, Bouck JB, Weinstock GM, Gibbs RA. Chen R, et al. Genome Res. 2001 Nov;11(11):1807-16. doi: 10.1101/gr.203601. Genome Res. 2001. PMID: 11691844 Free PMC article.

4

Dynamic building of a BAC clone tiling path for the Rat Genome Sequencing Project.

Chen R, Sodergren E, Weinstock GM, Gibbs RA. Chen R, et al. Genome Res. 2004 Apr;14(4):679-84. doi: 10.1101/gr.2171704. Genome Res. 2004. PMID: 15060010 Free PMC article.

5

The Atlas genome assembly system.

Havlak P, Chen R, Durbin KJ, Egan A, Ren Y, Song XZ, Weinstock GM, Gibbs RA. Havlak P, et al. Among authors: chen r. Genome Res. 2004 Apr;14(4):721-32. doi: 10.1101/gr.2264004. Genome Res. 2004. PMID: 15060016 Free PMC article.

6

High-precision, whole-genome sequencing of laboratory strains facilitates genetic studies.

Srivatsan A, Han Y, Peng J, Tehranchi AK, Gibbs R, Wang JD, Chen R. Srivatsan A, et al. Among authors: chen r. PLoS Genet. 2008 Aug 1;4(8):e1000139. doi: 10.1371/journal.pgen.1000139. PLoS Genet. 2008. PMID: 18670626 Free PMC article.

7

Mutation survey of known LCA genes and loci in the Saudi Arabian population.

Li Y, Wang H, Peng J, Gibbs RA, Lewis RA, Lupski JR, Mardon G, Chen R. Li Y, et al. Among authors: chen r. Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1336-43. doi: 10.1167/iovs.08-2589. Epub 2008 Oct 20. Invest Ophthalmol Vis Sci. 2009. PMID: 18936139 Free PMC article.

8

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.

Wang H, den Hollander AI, Moayedi Y, Abulimiti A, Li Y, Collin RW, Hoyng CB, Lopez I, Abboud EB, Al-Rajhi AA, Bray M, Lewis RA, Lupski JR, Mardon G, Koenekoop RK, Chen R. Wang H, et al. Among authors: chen r. Am J Hum Genet. 2009 Mar;84(3):380-7. doi: 10.1016/j.ajhg.2009.02.005. Epub 2009 Mar 5. Am J Hum Genet. 2009. PMID: 19268277 Free PMC article.

9

High-throughput multiplex sequencing to discover copy number variants in Drosophila.

Daines B, Wang H, Li Y, Han Y, Gibbs R, Chen R. Daines B, et al. Among authors: chen r. Genetics. 2009 Aug;182(4):935-41. doi: 10.1534/genetics.109.103218. Epub 2009 Jun 15. Genetics. 2009. PMID: 19528327 Free PMC article.

10

Rapid identification of heterozygous mutations in Drosophila melanogaster using genomic capture sequencing.

Wang H, Chattopadhyay A, Li Z, Daines B, Li Y, Gao C, Gibbs R, Zhang K, Chen R. Wang H, et al. Among authors: chen r. Genome Res. 2010 Jul;20(7):981-8. doi: 10.1101/gr.102921.109. Epub 2010 May 14. Genome Res. 2010. PMID: 20472684 Free PMC article.

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