Genomes and Genes
Affiliation: Baylor College of Medicine
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..