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Results: 1 to 20 of 88

1.

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

Fernandez-Godino R, Garland DL, Pierce EA.

Hum Mol Genet. 2015 Jul 21. pii: ddv287. [Epub ahead of print]

PMID:
26199322
2.

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. pii: a017152. doi: 10.1101/cshperspect.a017152. [Epub ahead of print]

PMID:
25722474
3.

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

Pierce EA, Bennett J.

Cold Spring Harb Perspect Med. 2015 Jan 29. pii: a017285. doi: 10.1101/cshperspect.a017285. [Epub ahead of print]

PMID:
25635059
4.

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.

5.

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):253-61. doi: 10.1038/gim.2014.172. Epub 2014 Nov 20.

PMID:
25412400
6.

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
7.

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.

PMID:
25168386
8.

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.

PMID:
25111227
9.

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.

PMID:
25088982
10.

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
11.

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.

12.

Exome-based mapping and variant prioritization for inherited Mendelian disorders.

Koboldt DC, Larson DE, Sullivan LS, Bowne SJ, Steinberg KM, Churchill JD, Buhr AC, Nutter N, Pierce EA, Blanton SH, Weinstock GM, Wilson RK, Daiger SP.

Am J Hum Genet. 2014 Mar 6;94(3):373-84. doi: 10.1016/j.ajhg.2014.01.016. Epub 2014 Feb 20.

13.

CRB1: one gene, many phenotypes.

Ehrenberg M, Pierce EA, Cox GF, Fulton AB.

Semin Ophthalmol. 2013 Sep-Nov;28(5-6):397-405. doi: 10.3109/08820538.2013.825277. Review.

PMID:
24138049
14.

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M.

Am J Hum Genet. 2013 Sep 5;93(3):482-95. doi: 10.1016/j.ajhg.2013.07.016. Epub 2013 Aug 29.

15.

Genetic testing for inherited eye disease: who benefits?

Wiggs JL, Pierce EA.

JAMA Ophthalmol. 2013 Oct;131(10):1265-6. doi: 10.1001/jamaophthalmol.2013.4509. No abstract available.

PMID:
23949187
16.

Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration.

Garland DL, Fernandez-Godino R, Kaur I, Speicher KD, Harnly JM, Lambris JD, Speicher DW, Pierce EA.

Hum Mol Genet. 2014 Jan 1;23(1):52-68. doi: 10.1093/hmg/ddt395. Epub 2013 Aug 13.

17.

Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genes.

Farkas MH, Grant GR, White JA, Sousa ME, Consugar MB, Pierce EA.

BMC Genomics. 2013 Jul 18;14:486. doi: 10.1186/1471-2164-14-486.

18.

Progression of myopia and high myopia in the Early Treatment for Retinopathy of Prematurity study: findings at 4 to 6 years of age.

Quinn GE, Dobson V, Davitt BV, Wallace DK, Hardy RJ, Tung B, Lai D, Good WV; Early Treatment for Retinopathy of Prematurity Cooperative Group.

J AAPOS. 2013 Apr;17(2):124-8. doi: 10.1016/j.jaapos.2012.10.025.

19.

Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2.

Testa F, Maguire AM, Rossi S, Pierce EA, Melillo P, Marshall K, Banfi S, Surace EM, Sun J, Acerra C, Wright JF, Wellman J, High KA, Auricchio A, Bennett J, Simonelli F.

Ophthalmology. 2013 Jun;120(6):1283-91. doi: 10.1016/j.ophtha.2012.11.048. Epub 2013 Mar 6.

20.

Seeing the light.

Wojno AP, Pierce EA, Bennett J.

Sci Transl Med. 2013 Mar 6;5(175):175fs8. doi: 10.1126/scitranslmed.3005798.

PMID:
23467559
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