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Page 1
Targeted exon sequencing in Usher syndrome type I.
Bujakowska KM, Consugar M, Place E, Harper S, Lena J, Taub DG, White J, Navarro-Gomez D, Weigel DiFranco C, Farkas MH, Gai X, Berson EL, Pierce EA. Bujakowska KM, et al. Invest Ophthalmol Vis Sci. 2014 Dec 2;55(12):8488-96. doi: 10.1167/iovs.14-15169. Invest Ophthalmol Vis Sci. 2014. PMID: 25468891 Free PMC article.
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM. Zampaglione E, et al. Among authors: navarro gomez d. Genet Med. 2020 Jun;22(6):1079-1087. doi: 10.1038/s41436-020-0759-8. Epub 2020 Feb 10. Genet Med. 2020. PMID: 32037395 Free PMC article.
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. 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.
Expanding the phenotypic spectrum in RDH12-associated retinal disease.
Scott HA, Place EM, Ferenchak K, Zampaglione E, Wagner NE, Chao KR, DiTroia SP, Navarro-Gomez D, Mukai S, Huckfeldt RM, Pierce EA, Bujakowska KM. Scott HA, et al. Among authors: navarro gomez d. Cold Spring Harb Mol Case Stud. 2020 Feb 3;6(1):a004754. doi: 10.1101/mcs.a004754. Print 2020 Feb. Cold Spring Harb Mol Case Stud. 2020. PMID: 32014858 Free PMC article.
NOD2 genetic variants and sarcoidosis-associated uveitis.
Davoudi S, Navarro-Gomez D, Shen L, Ung C, Ren A, Sullivan L, Kwong M, Janessian M, Comander J, Gai X, Lobo AM, Papaliodis GN, Sobrin L. Davoudi S, et al. Am J Ophthalmol Case Rep. 2016 Jun 1;3:39-42. doi: 10.1016/j.ajoc.2016.05.005. eCollection 2016 Oct. Am J Ophthalmol Case Rep. 2016. PMID: 29503906 Free PMC article.
19 results