Publications

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2016
Xu M, Eblimit A, Wang J, Li J, Wang F, Zhao L, Wang X, Xiao N, Li Y, Wong L-JC, Lewis RA, Chen R. ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa. Hum Mutat. 2016 ;37(3):246-9.
Fu Q, Xu M, Chen X, Sheng X, Yuan Z, Liu Y, Li H, Sun Z, Li H, Yang L, Wang K, Zhang F, Li Y, Zhao C, Sui R, Chen R. CEP78 is mutated in a distinct type of Usher syndrome. J Med Genet. 2016 ;.
Jin M, Eblimit A, Pulikkathara M, Corr S, Chen R, Mardon G. Conditional knockout of retinal determination genes in differentiating cells in Drosophila. FEBS J. 2016 ;283(15):2754-66.
Tan H, Deng B, Yu H, Yang Y, Ding L, Zhang Q, Qin J, Kijlstra A, Chen R, Yang P. Genetic analysis of innate immunity in Behcet's disease identifies an association with IL-37 and IL-18RAP. Sci Rep. 2016 ;6:35802.
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. Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genet Med. 2016 ;18(10):1044-51.
Jin M, Aibar S, Ge Z, Chen R, Aerts S, Mardon G. Identification of novel direct targets of Drosophila Sine oculis and Eyes absent by integration of genome-wide data sets. Dev Biol. 2016 ;415(1):157-67.
Zhao L, Chen Y, Bajaj AOnkar, Eblimit A, Xu M, Soens ZT, Wang F, Ge Z, Jung SYun, He F, Li Y, Wensel TG, Qin J, Chen R. Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes. Genome Res. 2016 ;26(5):660-9.
Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, Peelman F, Karlstetter M, Xu M, Brachet C, Meunier I, Tsilimbaris MK, Tsika C, Blazaki SV, Vergult S, Farinelli P, Van Laethem T, Bauwens M, De Bruyne M, Chen R, Langmann T, Sui R, Meire F, Rivolta C, Hamel CP, Leroy BP, De Baere E. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. Am J Hum Genet. 2016 ;99(2):470-80.
Han X, Liu Z, Zhao L, Wang F, Yu Y, Yang J, Chen R, Qin L. Microfluidic Cell Deformability Assay for Rapid and Efficient Kinase Screening with the CRISPR-Cas9 System. Angew Chem Int Ed Engl. 2016 ;55(30):8561-5.
Hull S, Arno G, Ku CA, Ge Z, Waseem N, Chandra A, Webster AR, Robson AG, Michaelides M, Weleber RG, Davagnanam I, Chen R, Holder GE, Pennesi ME, Moore AT. Molecular and Clinical Findings in Patients With Knobloch Syndrome. JAMA Ophthalmol. 2016 ;134(7):753-62.
Xu M, Yamada T, Sun Z, Eblimit A, Lopez I, Wang F, Manya H, Xu S, Zhao L, Li Y, Kimchi A, Sharon D, Sui R, Endo T, Koenekoop RK, Chen R. Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Hum Mol Genet. 2016 ;25(8):1479-88.
Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, Chakarova C, Parfitt DA, Lane A, Burgoyne T, Hull S, Carss KJ, Fiorentino A, Hayes MJ, Munro PM, Nicols R, Pontikos N, Holder GE, Asomugha C, F Raymond L, Moore AT, Plagnol V, Michaelides M, Hardcastle AJ, Li Y, Cukras C, Webster AR, Cheetham ME, Chen R. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet. 2016 ;99(6):1305-1315.
Tajiguli A, Xu M, Fu Q, Yiming R, Wang K, Li Y, Eblimit A, Sui R, Chen R, Aisa HAkber. Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity. Sci Rep. 2016 ;6:21384.
Zhang Q, Xu M, Verriotto JD, Li Y, Wang H, Gan L, Lam BL, Chen R. Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. Sci Rep. 2016 ;6:32792.
Xue C, Raveendran M, Harris RA, Fawcett GL, Liu X, White S, Dahdouli M, Deiros DRio, Below JE, Salerno WJ, Cox L, Fan G, Ferguson B, Horvath J, Johnson Z, Kanthaswamy S, H Kubisch M, Liu D, Platt M, Smith DG, Sun B, Vallender EJ, Wang F, Wiseman RW, Chen R, Muzny DM, Gibbs RA, Yu F, Rogers J. The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences. Genome Res. 2016 ;26(12):1651-1662.
Zhang K, Gao M, Chong Z, Li Y, Han X, Chen R, Qin L. Single-cell isolation by a modular single-cell pipette for RNA-sequencing. Lab Chip. 2016 ;16(24):4742-4748.
Pew BK, Harris RA, Sbrana E, Guaman MCuevas, Shope C, Chen R, Meloche S, Aagaard K. Structural and transcriptomic response to antenatal corticosteroids in an Erk3-null mouse model of respiratory distress. Am J Obstet Gynecol. 2016 ;215(3):384.e1-384.e89.