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Items: 1 to 20 of 94

1.

Photoreceptor Cilia and Retinal Ciliopathies.

Bujakowska KM, Liu Q, Pierce EA.

Cold Spring Harb Perspect Biol. 2017 Mar 13. pii: a028274. doi: 10.1101/cshperspect.a028274. [Epub ahead of print]

PMID:
28289063
2.

Paradigm Shifts in Ophthalmic Diagnostics.

Sebag J, Sadun AA, Pierce EA.

Trans Am Ophthalmol Soc. 2016 Aug;114:WP1. Review.

3.

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

Bujakowska KM, Fernandez-Godino R, Place E, Consugar M, Navarro-Gomez D, White J, Bedoukian EC, Zhu X, Xie HM, Gai X, Leroy BP, Pierce EA.

Genet Med. 2017 Jun;19(6):643-651. doi: 10.1038/gim.2016.158. Epub 2016 Oct 13.

PMID:
27735924
4.

Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial.

Bennett J, Wellman J, Marshall KA, McCague S, Ashtari M, DiStefano-Pappas J, Elci OU, Chung DC, Sun J, Wright JF, Cross DR, Aravand P, Cyckowski LL, Bennicelli JL, Mingozzi F, Auricchio A, Pierce EA, Ruggiero J, Leroy BP, Simonelli F, High KA, Maguire AM.

Lancet. 2016 Aug 13;388(10045):661-72. doi: 10.1016/S0140-6736(16)30371-3. Epub 2016 Jun 30.

5.

Isolation, culture and characterization of primary mouse RPE cells.

Fernandez-Godino R, Garland DL, Pierce EA.

Nat Protoc. 2016 Jul;11(7):1206-18. doi: 10.1038/nprot.2016.065. Epub 2016 Jun 9.

PMID:
27281648
6.

Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease.

Greenwald SH, Charette JR, Staniszewska M, Shi LY, Brown SD, Stone L, Liu Q, Hicks WL, Collin GB, Bowl MR, Krebs MP, Nishina PM, Pierce EA.

Am J Pathol. 2016 Jul;186(7):1925-38. doi: 10.1016/j.ajpath.2016.03.013. Epub 2016 May 18.

7.

Course of Ocular Function in PRPF31 Retinitis Pigmentosa.

Hafler BP, Comander J, Weigel DiFranco C, Place EM, Pierce EA.

Semin Ophthalmol. 2016;31(1-2):49-52. doi: 10.3109/08820538.2015.1114856. Review.

PMID:
26959129
8.

A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.

Falk MJ, Gai X, Shigematsu M, Vilardo E, Takase R, McCormick E, Christian T, Place E, Pierce EA, Consugar M, Gamper HB, Rossmanith W, Hou YM.

RNA Biol. 2016 May 3;13(5):477-85. doi: 10.1080/15476286.2016.1159381. Epub 2016 Mar 7.

9.

Extracellular Matrix Alterations and Deposit Formation in AMD.

Fernandez-Godino R, Pierce EA, Garland DL.

Adv Exp Med Biol. 2016;854:53-8. doi: 10.1007/978-3-319-17121-0_8. Review.

PMID:
26427393
10.

A local complement response by RPE causes early-stage macular degeneration.

Fernandez-Godino R, Garland DL, Pierce EA.

Hum Mol Genet. 2015 Oct 1;24(19):5555-69. doi: 10.1093/hmg/ddv287. Epub 2015 Jul 21.

11.

RNA-Seq: Improving Our Understanding of Retinal Biology and Disease.

Farkas MH, Au ED, Sousa ME, Pierce EA.

Cold Spring Harb Perspect Med. 2015 Feb 26;5(9):a017152. doi: 10.1101/cshperspect.a017152. Review.

PMID:
25722474
12.

The Status of RPE65 Gene Therapy Trials: Safety and Efficacy.

Pierce EA, Bennett J.

Cold Spring Harb Perspect Med. 2015 Jan 29;5(9):a017285. doi: 10.1101/cshperspect.a017285. Review.

PMID:
25635059
13.

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.

Invest Ophthalmol Vis Sci. 2014 Dec 2;55(12):8488-96. doi: 10.1167/iovs.14-15169.

14.

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.

Genet Med. 2015 Apr;17(4):253-261. doi: 10.1038/gim.2014.172. Epub 2014 Nov 20.

15.

Systemic diseases associated with retinal dystrophies.

Werdich XQ, Place EM, Pierce EA.

Semin Ophthalmol. 2014 Sep-Nov;29(5-6):319-28. doi: 10.3109/08820538.2014.959202. Review.

PMID:
25325857
16.

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.

Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Saïd S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA.

Hum Mol Genet. 2015 Jan 1;24(1):230-42. doi: 10.1093/hmg/ddu441. Epub 2014 Aug 28.

17.

Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium.

Farkas MH, Lew DS, Sousa ME, Bujakowska K, Chatagnon J, Bhattacharya SS, Pierce EA, Nandrot EF.

Am J Pathol. 2014 Oct;184(10):2641-52. doi: 10.1016/j.ajpath.2014.06.026. Epub 2014 Aug 8.

18.

A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration.

Song D, Grieco S, Li Y, Hunter A, Chu S, Zhao L, Song Y, DeAngelis RA, Shi LY, Liu Q, Pierce EA, Nishina PM, Lambris JD, Dunaief JL.

Am J Pathol. 2014 Oct;184(10):2721-9. doi: 10.1016/j.ajpath.2014.06.010. Epub 2014 Aug 1.

19.

Yersinia pestis infection in dogs: 62 cases (2003-2011).

Nichols MC, Ettestad PJ, Vinhatton ES, Melman SD, Onischuk L, Pierce EA, Aragon AS.

J Am Vet Med Assoc. 2014 May 15;244(10):1176-80. doi: 10.2460/javma.244.10.1176.

PMID:
24786165
20.

Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP).

Daiger SP, Bowne SJ, Sullivan LS, Blanton SH, Weinstock GM, Koboldt DC, Fulton RS, Larsen D, Humphries P, Humphries MM, Pierce EA, Chen R, Li Y.

Adv Exp Med Biol. 2014;801:123-9. doi: 10.1007/978-1-4614-3209-8_16.

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