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Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB, Navarro-Gomez D, Place EM, Bujakowska KM, Sousa ME, Fonseca-Kelly ZD, Taub DG, Janessian M, Wang DY, Au ED, Sims KB, Sweetser DA, Fulton AB, Liu Q, Wiggs JL, Gai X, Pierce EA. Consugar MB, et al. Among authors: sousa me. Genet Med. 2015 Apr;17(4):253-261. doi: 10.1038/gim.2014.172. Epub 2014 Nov 20. Genet Med. 2015. PMID: 25412400 Free PMC article.
RNA-Seq: Improving Our Understanding of Retinal Biology and Disease.
Farkas MH, Au ED, Sousa ME, Pierce EA. Farkas MH, et al. Among authors: sousa me. Cold Spring Harb Perspect Med. 2015 Feb 26;5(9):a017152. doi: 10.1101/cshperspect.a017152. Cold Spring Harb Perspect Med. 2015. PMID: 25722474 Free PMC article. Review.
Micropeptide.
Sousa ME, Farkas MH. Sousa ME, et al. PLoS Genet. 2018 Dec 13;14(12):e1007764. doi: 10.1371/journal.pgen.1007764. eCollection 2018 Dec. PLoS Genet. 2018. PMID: 30543625 Free PMC article. Review. No abstract available.
Neonatal Abandonment and Hydrocephalus in Antillean Manatees (Trichechus manatus manatus): Is There a Causal Relationship?
Santos TFS, Moura MAO, Tavares GSF, Siqueira JS, Sarmento NMFP, Prado RGS, Costa AF, Amaral TMMM, Emin-Lima R, Sousa MEM, Moreira Júnior RHM, Bezerra Júnior PS, Riet-Correa G, Cerqueira VD. Santos TFS, et al. Among authors: sousa mem. Animals (Basel). 2025 Jan 10;15(2):161. doi: 10.3390/ani15020161. Animals (Basel). 2025. PMID: 39858161
67 results