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Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.
Vincent A, Ng J, Gerth-Kahlert C, Tavares E, Maynes JT, Wright T, Tiwari A, Tumber A, Li S, Hanson JV, Bahr A, MacDonald H, Bähr L, Westall C, Berger W, Cremers FP, den Hollander AI, Héon E. Vincent A, et al. Among authors: tavares e. Invest Ophthalmol Vis Sci. 2016 May 1;57(6):2637-46. doi: 10.1167/iovs.15-18281. Invest Ophthalmol Vis Sci. 2016. PMID: 27258436 Free article.
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC. Heon E, et al. Among authors: tavares e. Hum Mol Genet. 2016 Jun 1;25(11):2283-2294. doi: 10.1093/hmg/ddw096. Epub 2016 Mar 22. Hum Mol Genet. 2016. PMID: 27008867 Free PMC article.
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C; GNB3 Consortium; Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E. Vincent A, et al. Among authors: tavares e. Am J Hum Genet. 2016 May 5;98(5):1011-1019. doi: 10.1016/j.ajhg.2016.03.021. Epub 2016 Apr 7. Am J Hum Genet. 2016. PMID: 27063057 Free PMC article.
Unique retinal signaling defect in GNB5-related disease.
Shao Z, Tumber A, Maynes J, Tavares E, Kannu P, Heon E, Vincent A. Shao Z, et al. Among authors: tavares e. Doc Ophthalmol. 2020 Jun;140(3):273-277. doi: 10.1007/s10633-019-09735-1. Epub 2019 Nov 12. Doc Ophthalmol. 2020. PMID: 31720979
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway G, Arno G; Genomics England Research Consortium; Khan KN, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S, Ellingford J, Black G, Webster A, Rydzanicz M, Stawiński P, Płoski R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A, Heon E. Vig A, et al. Among authors: tavares e. Genet Med. 2020 Dec;22(12):2041-2051. doi: 10.1038/s41436-020-0915-1. Epub 2020 Aug 5. Genet Med. 2020. PMID: 32753734 Free PMC article.
Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization.
Di Scipio M, Tavares E, Deshmukh S, Audo I, Green-Sanderson K, Zubak Y, Zine-Eddine F, Pearson A, Vig A, Tang CY, Mollica A, Karas J, Tumber A, Yu CW, Billingsley G, Wilson MD, Zeitz C, Héon E, Vincent A. Di Scipio M, et al. Among authors: tavares e. Invest Ophthalmol Vis Sci. 2020 Aug 3;61(10):36. doi: 10.1167/iovs.61.10.36. Invest Ophthalmol Vis Sci. 2020. PMID: 32881472 Free PMC article.
261 results