Rui Chen


Affiliation: Baylor College of Medicine
Country: USA


  1. Eblimit A, Nguyen T, Chen Y, Esteve Rudd J, Zhong H, Letteboer S, et al. Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Hum Mol Genet. 2015;24:1584-601 pubmed publisher
  2. Kean T, Ge Z, Li Y, Chen R, Dennis J. Transcriptome-Wide Analysis of Human Chondrocyte Expansion on Synoviocyte Matrix. Cells. 2019;8: pubmed publisher
  3. Wang J, Zhao L, Wang X, Chen Y, Xu M, Soens Z, et al. GRIPT: a novel case-control analysis method for Mendelian disease gene discovery. Genome Biol. 2018;19:203 pubmed publisher
    ..Analyses of simulated and real datasets show that GRIPT is well-powered for disease gene discovery, especially for diseases with high locus heterogeneity. ..
  4. Eblimit A, Zaneveld S, Liu W, Thomas K, Wang K, Li Y, et al. NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Exp Eye Res. 2018;173:32-43 pubmed publisher
    ..These findings suggest that NMNAT1 plays an important role in photoreceptors and is likely involved in both retinal development and maintenance of photoreceptor integrity. ..
  5. Dharmat R, Eblimit A, Robichaux M, Zhang Z, Nguyen T, Jung S, et al. SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium. J Cell Biol. 2018;217:2851-2865 pubmed publisher
    ..These data provide a novel mechanism to explain how genetic disruption of ubiquitously present ciliary proteins exerts tissue-specific ciliopathy phenotypes. ..
  6. Sheng X, Chen X, Lei B, Chen R, Wang H, Zhang F, et al. Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia. J Transl Med. 2015;13:179 pubmed publisher
    ..Our study also emphasizes the importance of WES in assisting the clinical diagnosis for complicated cases when the original diagnoses are challenged. ..
  7. Yu D, Gadkari M, Zhou Q, Yu S, Gao N, Guan Y, et al. Postnatal epigenetic regulation of intestinal stem cells requires DNA methylation and is guided by the microbiome. Genome Biol. 2015;16:211 pubmed publisher
  8. 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;415:157-167 pubmed publisher
    ..Moreover, since So is highly conserved throughout the metazoa, our results provide the basis for future functional studies in a wide variety of organisms. ..
  9. Xu M, Yang L, Wang F, Li H, Wang X, Wang W, et al. Mutations in human IFT140 cause non-syndromic retinal degeneration. Hum Genet. 2015;134:1069-78 pubmed publisher
    ..This work also improves the molecular diagnosis of retinal degenerative disease. ..

More Information


  1. Arno G, Agrawal S, Eblimit A, Bellingham J, Xu M, Wang F, et al. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet. 2016;99:1305-1315 pubmed publisher
    ..Therefore, our study implicates REEP6 in retinal homeostasis and highlights a pathway previously uncharacterized in retinal dystrophy. ..
  2. Xu M, Xie Y, Abouzeid H, Gordon C, Fiorentino A, Sun Z, et al. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. Am J Hum Genet. 2017;100:592-604 pubmed publisher
    ..Our study describes a retinal dystrophy-related phenotype spectrum as well as its genetic etiology and highlights the complexity of the spliceosomal gene network. ..
  3. Yuan Z, Li B, Xu M, CHANG E, Li H, Yang L, et al. The phenotypic variability of HK1-associated retinal dystrophy. Sci Rep. 2017;7:7051 pubmed publisher
    ..Our results identified pleiotropic effects for an IRD-causing variant and provide more insights into the involvement of a hexokinase in retinal pathogenesis. ..
  4. Eblimit A, Agrawal S, Thomas K, Anastassov I, Abulikemu T, Moayedi Y, et al. Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice. Exp Eye Res. 2018;166:120-130 pubmed publisher
  5. Jiang L, Liang X, Li Y, Wang J, Zaneveld J, Wang H, et al. Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet J Rare Dis. 2015;10:110 pubmed publisher
    ..By combining NGS-based molecular diagnosis and patient clinical information, a more accurate diagnosis, prognosis and personalized treatment of USH patients can be achieved. ..
  6. Xu M, Yamada T, Sun Z, Eblimit A, Lopez I, Wang F, et al. Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Hum Mol Genet. 2016;25:1479-88 pubmed publisher
  7. Porto F, Jones E, Branch J, Soens Z, Maia I, Sena I, et al. Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. Genes (Basel). 2017;8: pubmed publisher
  8. Wang Y, Brahmakshatriya V, Zhu H, Lupiani B, Reddy S, Yoon B, et al. Identification of differentially expressed miRNAs in chicken lung and trachea with avian influenza virus infection by a deep sequencing approach. BMC Genomics. 2009;10:512 pubmed publisher
    ..Elucidation of the mechanism of these miRNAs on the regulation of host-AIV interaction will lead to the development of new control strategies to prevent or treat AIV infections in poultry. ..
  9. Chen Y, Zhao L, Wang Y, Cao M, Gelowani V, Xu M, et al. SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. BMC Bioinformatics. 2017;18:147 pubmed publisher
    ..SeqCNV is able to robustly identify CNVs of different size using capture NGS data. Compared with other CNV-calling methods, SeqCNV shows a significant improvement in both sensitivity and specificity. ..