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Items: 1 to 50 of 106

1.

Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.

Wan A, Place E, Pierce EA, Comander J.

Hum Mutat. 2019 Aug;40(8):1127-1144. doi: 10.1002/humu.23762. Epub 2019 Jun 22.

PMID:
30977563
2.

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene.

Ba-Abbad R, Leys M, Wang X, Chakarova C, Waseem N, Carss KJ, Raymond FL, Bujakowska KM, Pierce EA, Mahroo OA, Mohamed MD, Holder GE, Hummel M, Arno G, Webster AR.

Invest Ophthalmol Vis Sci. 2018 Oct 1;59(12):4812-4820. doi: 10.1167/iovs.18-25061.

3.

Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.

Jamshidi F, Place EM, Mehrotra S, Navarro-Gomez D, Maher M, Branham KE, Valkanas E, Cherry TJ, Lek M, MacArthur D, Pierce EA, Bujakowska KM.

Genet Med. 2019 Mar;21(3):694-704. doi: 10.1038/s41436-018-0104-7. Epub 2018 Aug 3.

4.

Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps.

Duncan JL, Pierce EA, Laster AM, Daiger SP, Birch DG, Ash JD, Iannaccone A, Flannery JG, Sahel JA, Zack DJ, Zarbin MA; and the Foundation Fighting Blindness Scientific Advisory Board.

Transl Vis Sci Technol. 2018 Jul 18;7(4):6. doi: 10.1167/tvst.7.4.6. eCollection 2018 Jul. No abstract available.

5.

C3a triggers formation of sub-retinal pigment epithelium deposits via the ubiquitin proteasome pathway.

Fernandez-Godino R, Pierce EA.

Sci Rep. 2018 Jun 26;8(1):9679. doi: 10.1038/s41598-018-28143-0.

6.

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.

Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ.

Hum Mol Genet. 2018 Oct 1;27(19):3305-3312. doi: 10.1093/hmg/ddy231.

7.

Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects.

Gupta PR, Pendse N, Greenwald SH, Leon M, Liu Q, Pierce EA, Bujakowska KM.

Hum Mol Genet. 2018 Jun 1;27(11):2012-2024. doi: 10.1093/hmg/ddy109.

8.

Allele-Specific CRISPR-Cas9 Genome Editing of the Single-Base P23H Mutation for Rhodopsin-Associated Dominant Retinitis Pigmentosa.

Li P, Kleinstiver BP, Leon MY, Prew MS, Navarro-Gomez D, Greenwald SH, Pierce EA, Joung JK, Liu Q.

CRISPR J. 2018 Feb;1:55-64. doi: 10.1089/crispr.2017.0009.

9.

Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway.

Fernandez-Godino R, Bujakowska KM, Pierce EA.

Hum Mol Genet. 2018 Jan 1;27(1):147-159. doi: 10.1093/hmg/ddx392.

10.

The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.

Men CJ, Bujakowska KM, Comander J, Place E, Bedoukian EC, Zhu X, Leroy BP, Fulton AB, Pierce EA.

Mol Vis. 2017 Oct 10;23:695-706. eCollection 2017.

11.

The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.

Comander J, Weigel-DiFranco C, Maher M, Place E, Wan A, Harper S, Sandberg MA, Navarro-Gomez D, Pierce EA.

Genes (Basel). 2017 Oct 5;8(10). pii: E256. doi: 10.3390/genes8100256.

12.

Photoreceptor Cilia and Retinal Ciliopathies.

Bujakowska KM, Liu Q, Pierce EA.

Cold Spring Harb Perspect Biol. 2017 Oct 3;9(10). pii: a028274. doi: 10.1101/cshperspect.a028274. Review.

13.

Paradigm Shifts in Ophthalmic Diagnostics.

Sebag J, Sadun AA, Pierce EA.

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

14.

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.

15.

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.

16.

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.

17.

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

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

Am J Pathol. 2016 Jul;186(7):1925-1938. doi: 10.1016/j.ajpath.2016.03.013. Epub 2016 May 18.

18.

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.

19.

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.

20.

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy.

Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, Pierce EA, Downey LM, Mohamed MD, Markham AF, Inglehearn CF, Toomes C.

Am J Hum Genet. 2016 Mar 3;98(3):592. doi: 10.1016/j.ajhg.2016.02.017. Epub 2016 Mar 3. No abstract available.

21.

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
22.

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.

23.

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.

24.

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.

25.

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.

26.

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.

27.

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
28.

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.

29.

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.

30.

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.

31.

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
32.

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.

33.

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.

34.

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
35.

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.

36.

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
37.

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.

38.

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.

39.

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.

40.

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
41.

Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome.

Falk MJ, Pierce EA, Consugar M, Xie MH, Guadalupe M, Hardy O, Rappaport EF, Wallace DC, LeProust E, Gai X.

Discov Med. 2012 Dec;14(79):389-99.

42.

Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype.

Liu Q, Collin RW, Cremers FP, den Hollander AI, van den Born LI, Pierce EA.

PLoS One. 2012;7(8):e43251. doi: 10.1371/journal.pone.0043251. Epub 2012 Aug 21.

43.

NMNAT1 mutations cause Leber congenital amaurosis.

Falk MJ, Zhang Q, Nakamaru-Ogiso E, Kannabiran C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD, Staniszewska M, Shukla R, Palavalli L, Mohand-Said S, Waseem NH, Jalali S, Perin JC, Place E, Ostrovsky J, Xiao R, Bhattacharya SS, Consugar M, Webster AR, Sahel JA, Moore AT, Berson EL, Liu Q, Gai X, Pierce EA.

Nat Genet. 2012 Sep;44(9):1040-5. doi: 10.1038/ng.2361. Epub 2012 Jul 29.

44.

Knockdown of ttc26 disrupts ciliogenesis of the photoreceptor cells and the pronephros in zebrafish.

Zhang Q, Liu Q, Austin C, Drummond I, Pierce EA.

Mol Biol Cell. 2012 Aug;23(16):3069-78. doi: 10.1091/mbc.E12-01-0019. Epub 2012 Jun 20.

45.

Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.

Schrier SA, Wong LJ, Place E, Ji JQ, Pierce EA, Golden J, Santi M, Anninger W, Falk MJ.

Discov Med. 2012 Feb;13(69):143-50.

46.

AAV2 gene therapy readministration in three adults with congenital blindness.

Bennett J, Ashtari M, Wellman J, Marshall KA, Cyckowski LL, Chung DC, McCague S, Pierce EA, Chen Y, Bennicelli JL, Zhu X, Ying GS, Sun J, Wright JF, Auricchio A, Simonelli F, Shindler KS, Mingozzi F, High KA, Maguire AM.

Sci Transl Med. 2012 Feb 8;4(120):120ra15. doi: 10.1126/scitranslmed.3002865.

47.

Transcriptome analyses to investigate the pathogenesis of RNA splicing factor retinitis pigmentosa.

Farkas MH, Grant GR, Pierce EA.

Adv Exp Med Biol. 2012;723:519-25. doi: 10.1007/978-1-4614-0631-0_65. Review. No abstract available.

48.

Comparative analysis of RNA-Seq alignment algorithms and the RNA-Seq unified mapper (RUM).

Grant GR, Farkas MH, Pizarro AD, Lahens NF, Schug J, Brunk BP, Stoeckert CJ, Hogenesch JB, Pierce EA.

Bioinformatics. 2011 Sep 15;27(18):2518-28. doi: 10.1093/bioinformatics/btr427. Epub 2011 Jul 19.

49.

Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP.

Cao H, Wu J, Lam S, Duan R, Newnham C, Molday RS, Graziotto JJ, Pierce EA, Hu J.

PLoS One. 2011 Jan 19;6(1):e15860. doi: 10.1371/journal.pone.0015860.

50.

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG; NISC Comparative Sequencing Program, Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N.

Nat Genet. 2011 Mar;43(3):189-96. doi: 10.1038/ng.756. Epub 2011 Jan 23.

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