Meet the team

Eric Pierce OGI Director

Dr. Eric Pierce received his Ph.D. in Biochemistry from the University of Wisconsin-Madison and his M.D. from Harvard Medical School. He did his residency in Ophthalmology at Harvard and fellowship in Pediatric Ophthalmology at Children’s Hospital, Boston where he also took his first faculty position. He was then recruited to the department of Ophthalmology at the University of Pennsylvania School of Medicine, where he was promoted to Associate Professor with tenure. He returned to Harvard in 2011 to establish the Ocular Genomics Institute.

Dr. Pierce is an ophthalmologist and molecular geneticist whose research program is dedicated to understanding the molecular mechanisms of inherited retinal degenerations (IRDs), and improving therapeutic interventions for these conditions. IRDs are a leading cause of blindness worldwide, and are characterized by progressive dysfunction and death of retinal photoreceptor cells.

Dr. Pierce’s research program is focused on identifying new IRD disease genes, investigating the mechanism by which mutations in the identified genes lead to blindness, and using this information about disease pathogenesis to develop rational therapies to prevent vision loss.

Contact information:



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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Paradigm Shifts in Ophthalmic Diagnostics.

Sebag J, Sadun AA, Pierce EA.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Seeing the light.

Wojno AP, Pierce EA, Bennett J.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Generation of Cre transgenic mice with postnatal RPE-specific ocular expression.

Iacovelli J, Zhao C, Wolkow N, Veldman P, Gollomp K, Ojha P, Lukinova N, King A, Feiner L, Esumi N, Zack DJ, Pierce EA, Vollrath D, Dunaief JL.

Invest Ophthalmol Vis Sci. 2011 Mar 14;52(3):1378-83. doi: 10.1167/iovs.10-6347. Print 2011 Mar.

Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.

Bowne SJ, Sullivan LS, Koboldt DC, Ding L, Fulton R, Abbott RM, Sodergren EJ, Birch DG, Wheaton DH, Heckenlively JR, Liu Q, Pierce EA, Weinstock GM, Daiger SP.

Invest Ophthalmol Vis Sci. 2011 Jan 25;52(1):494-503. doi: 10.1167/iovs.10-6180.

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, Conte J, Lopez I, Washburn J, Macdonald J, Hu J, Yamashita Y, Maher ER, Guay-Woodford LM, Neumann HP, Obermüller N, Koenekoop RK, Bergmann C, Bei X, Lewis RA, Katsanis N, Lopes V, Williams DS, Lyons RH, Dang CV, Brito DA, Dias MB, Zhang X, Cavalcoli JD, Nürnberg G, Nürnberg P, Pierce EA, Jackson PK, Antignac C, Saunier S, Roepman R, Dollfus H, Khanna H, Hildebrandt F.

Nat Genet. 2010 Oct;42(10):840-50. doi: 10.1038/ng.662. Epub 2010 Sep 12.

Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.

Graziotto JJ, Farkas MH, Bujakowska K, Deramaudt BM, Zhang Q, Nandrot EF, Inglehearn CF, Bhattacharya SS, Pierce EA.

Invest Ophthalmol Vis Sci. 2011 Jan 5;52(1):190-8. doi: 10.1167/iovs.10-5194. Print 2011 Jan.

Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1.

Westfall JE, Hoyt C, Liu Q, Hsiao YC, Pierce EA, Page-McCaw PS, Ferland RJ.

J Neurosci. 2010 Jun 30;30(26):8759-68. doi: 10.1523/JNEUROSCI.5229-09.2010.

Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa.

Daiger SP, Sullivan LS, Bowne SJ, Birch DG, Heckenlively JR, Pierce EA, Weinstock GM.

Adv Exp Med Biol. 2010;664:325-31. doi: 10.1007/978-1-4419-1399-9_37.

Photoreceptor sensory cilia and inherited retinal degeneration.

Liu Q, Zhang Q, Pierce EA.

Adv Exp Med Biol. 2010;664:223-32. doi: 10.1007/978-1-4419-1399-9_26. Review.

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.

Towns KV, Kipioti A, Long V, McKibbin M, Maubaret C, Vaclavik V, Ehsani P, Springell K, Kamal M, Ramesar RS, Mackey DA, Moore AT, Mukhopadhyay R, Webster AR, Black GC, O'Sullivan J, Bhattacharya SS, Pierce EA, Beggs JD, Inglehearn CF.

Hum Mutat. 2010 May;31(5):E1361-76. doi: 10.1002/humu.21236.

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. 2010 Feb 12;86(2):248-53. doi: 10.1016/j.ajhg.2010.01.012. Erratum in: Am J Hum Genet. 2016 Mar 3;98(3):592.

Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration.

Simonelli F, Maguire AM, Testa F, Pierce EA, Mingozzi F, Bennicelli JL, Rossi S, Marshall K, Banfi S, Surace EM, Sun J, Redmond TM, Zhu X, Shindler KS, Ying GS, Ziviello C, Acerra C, Wright JF, McDonnell JW, High KA, Bennett J, Auricchio A.

Mol Ther. 2010 Mar;18(3):643-50. doi: 10.1038/mt.2009.277. Epub 2009 Dec 1.

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial.

Maguire AM, High KA, Auricchio A, Wright JF, Pierce EA, Testa F, Mingozzi F, Bennicelli JL, Ying GS, Rossi S, Fulton A, Marshall KA, Banfi S, Chung DC, Morgan JI, Hauck B, Zelenaia O, Zhu X, Raffini L, Coppieters F, De Baere E, Shindler KS, Volpe NJ, Surace EM, Acerra C, Lyubarsky A, Redmond TM, Stone E, Sun J, McDonnell JW, Leroy BP, Simonelli F, Bennett J.

Lancet. 2009 Nov 7;374(9701):1597-605. doi: 10.1016/S0140-6736(09)61836-5. Epub 2009 Oct 23. Erratum in: Lancet. 2010 Jan 2;375(9708):30.

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.

Parry DA, Toomes C, Bida L, Danciger M, Towns KV, McKibbin M, Jacobson SG, Logan CV, Ali M, Bond J, Chance R, Swendeman S, Daniele LL, Springell K, Adams M, Johnson CA, Booth AP, Jafri H, Rashid Y, Banin E, Strom TM, Farber DB, Sharon D, Blobel CP, Pugh EN Jr, Pierce EA, Inglehearn CF.

Am J Hum Genet. 2009 May;84(5):683-91. doi: 10.1016/j.ajhg.2009.04.005. Epub 2009 Apr 30.

The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background.

Liu Q, Saveliev A, Pierce EA.

Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1566-74. doi: 10.1167/iovs.08-2776. Epub 2008 Dec 5.

Decreased levels of the RNA splicing factor Prpf3 in mice and zebrafish do not cause photoreceptor degeneration.

Graziotto JJ, Inglehearn CF, Pack MA, Pierce EA.

Invest Ophthalmol Vis Sci. 2008 Sep;49(9):3830-8. doi: 10.1167/iovs.07-1483. Epub 2008 Jun 14.

Safety and efficacy of gene transfer for Leber's congenital amaurosis.

Maguire AM, Simonelli F, Pierce EA, Pugh EN Jr, Mingozzi F, Bennicelli J, Banfi S, Marshall KA, Testa F, Surace EM, Rossi S, Lyubarsky A, Arruda VR, Konkle B, Stone E, Sun J, Jacobs J, Dell'Osso L, Hertle R, Ma JX, Redmond TM, Zhu X, Hauck B, Zelenaia O, Shindler KS, Maguire MG, Wright JF, Volpe NJ, McDonnell JW, Auricchio A, High KA, Bennett J.

N Engl J Med. 2008 May 22;358(21):2240-8. doi: 10.1056/NEJMoa0802315. Epub 2008 Apr 27.

Site-specific gene modification by oligodeoxynucleotides in mouse bone marrow-derived mesenchymal stem cells.

Flagler K, Alexeev V, Pierce EA, Igoucheva O.

Gene Ther. 2008 Jul;15(14):1035-48. doi: 10.1038/gt.2008.31. Epub 2008 Mar 13.

Characterization of retinal inosine monophosphate dehydrogenase 1 in several mammalian species.

Spellicy CJ, Daiger SP, Sullivan LS, Zhu J, Liu Q, Pierce EA, Bowne SJ.

Mol Vis. 2007 Oct 3;13:1866-72.

The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.

Fu L, Garland D, Yang Z, Shukla D, Rajendran A, Pearson E, Stone EM, Zhang K, Pierce EA.

Hum Mol Genet. 2007 Oct 15;16(20):2411-22. Epub 2007 Jul 30.

The proteome of the mouse photoreceptor sensory cilium complex.

Liu Q, Tan G, Levenkova N, Li T, Pugh EN Jr, Rux JJ, Speicher DW, Pierce EA.

Mol Cell Proteomics. 2007 Aug;6(8):1299-317. Epub 2007 May 9.

Analysis of kinesin-2 function in photoreceptor cells using synchronous Cre-loxP knockout of Kif3a with RHO-Cre.

Jimeno D, Feiner L, Lillo C, Teofilo K, Goldstein LS, Pierce EA, Williams DS.

Invest Ophthalmol Vis Sci. 2006 Nov;47(11):5039-46.

Delivery and mechanistic considerations for the production of knock-in mice by single-stranded oligonucleotide gene targeting.

Murphy BR, Moayedpardazi HS, Gewirtz AM, Diamond SL, Pierce EA.

Gene Ther. 2007 Feb;14(4):304-15. Epub 2006 Oct 5.

Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?

Bowne SJ, Liu Q, Sullivan LS, Zhu J, Spellicy CJ, Rickman CB, Pierce EA, Daiger SP.

Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3754-65.

Expression and activation of STAT3 in ischemia-induced retinopathy.

Mechoulam H, Pierce EA.

Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4409-16.

Quantification of the cytoplasmic spaces of living cells with EGFP reveals arrestin-EGFP to be in disequilibrium in dark adapted rod photoreceptors.

Peet JA, Bragin A, Calvert PD, Nikonov SS, Mani S, Zhao X, Besharse JC, Pierce EA, Knox BE, Pugh EN Jr.

J Cell Sci. 2004 Jun 15;117(Pt 14):3049-59.

RP1 is required for the correct stacking of outer segment discs.

Liu Q, Lyubarsky A, Skalet JH, Pugh EN Jr, Pierce EA.

Invest Ophthalmol Vis Sci. 2003 Oct;44(10):4171-83.

Retinopathy of prematurity: molecular pathology and therapeutic strategies.

Mechoulam H, Pierce EA.

Am J Pharmacogenomics. 2003;3(4):261-77. Review.

Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.

Bowne SJ, Daiger SP, Malone KA, Heckenlively JR, Kennan A, Humphries P, Hughbanks-Wheaton D, Birch DG, Liu Q, Pierce EA, Zuo J, Huang Q, Donovan DD, Sullivan LS.

Mol Vis. 2003 Apr 24;9:129-37.

Oligonucleotide-directed single-base DNA alterations in mouse embryonic stem cells.

Pierce EA, Liu Q, Igoucheva O, Omarrudin R, Ma H, Diamond SL, Yoon K.

Gene Ther. 2003 Jan;10(1):24-33.

Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene.

Gao J, Cheon K, Nusinowitz S, Liu Q, Bei D, Atkins K, Azimi A, Daiger SP, Farber DB, Heckenlively JR, Pierce EA, Sullivan LS, Zuo J.

Proc Natl Acad Sci U S A. 2002 Apr 16;99(8):5698-703.

Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors.

Liu Q, Zhou J, Daiger SP, Farber DB, Heckenlively JR, Smith JE, Sullivan LS, Zuo J, Milam AH, Pierce EA.

Invest Ophthalmol Vis Sci. 2002 Jan;43(1):22-32.

Necrotizing pancreatitis: contemporary analysis of 99 consecutive cases.

Ashley SW, Perez A, Pierce EA, Brooks DC, Moore FD Jr, Whang EE, Banks PA, Zinner MJ.

Ann Surg. 2001 Oct;234(4):572-9; discussion 579-80.

Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).

Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, Sandberg MA, Dryja TP.

Invest Ophthalmol Vis Sci. 2001 Sep;42(10):2217-24.

Retinal expression, regulation, and functional bioactivity of prostacyclin-stimulating factor.

Hata Y, Clermont A, Yamauchi T, Pierce EA, Suzuma I, Kagokawa H, Yoshikawa H, Robinson GS, Ishibashi T, Hashimoto T, Umeda F, Bursell SE, Aiello LP.

J Clin Invest. 2000 Aug;106(4):541-50.

Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.

Jacobson SG, Cideciyan AV, Iannaccone A, Weleber RG, Fishman GA, Maguire AM, Affatigato LM, Bennett J, Pierce EA, Danciger M, Farber DB, Stone EM.

Invest Ophthalmol Vis Sci. 2000 Jun;41(7):1898-908.

A pilot study of noninvasive methods to assess healed acute and chronic wounds.

Ho DQ, Bello YM, Grove GL, Manzoor J, Lopez AP, Zerweck CR, Pierce EA, Werkheiser JL, Phillips TJ.

Dermatol Surg. 2000 Jan;26(1):42-9.

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.

Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP.

Nat Genet. 1999 Jul;22(3):248-54.

Human neuropilin-1 and neuropilin-2 map to 10p12 and 2q34, respectively.

Rossignol M, Beggs AH, Pierce EA, Klagsbrun M.

Genomics. 1999 May 1;57(3):459-60. No abstract available.

Regulation of vascular endothelial growth factor by oxygen in a model of retinopathy of prematurity.

Pierce EA, Foley ED, Smith LE.

Arch Ophthalmol. 1996 Oct;114(10):1219-28. Erratum in: Arch Ophthalmol 1997 Mar;115(3):427.

Oligodeoxynucleotides inhibit retinal neovascularization in a murine model of proliferative retinopathy.

Robinson GS, Pierce EA, Rook SL, Foley E, Webb R, Smith LE.

Proc Natl Acad Sci U S A. 1996 May 14;93(10):4851-6.

Suppression of retinal neovascularization in vivo by inhibition of vascular endothelial growth factor (VEGF) using soluble VEGF-receptor chimeric proteins.

Aiello LP, Pierce EA, Foley ED, Takagi H, Chen H, Riddle L, Ferrara N, King GL, Smith LE.

Proc Natl Acad Sci U S A. 1995 Nov 7;92(23):10457-61.

Vascular endothelial growth factor/vascular permeability factor expression in a mouse model of retinal neovascularization.

Pierce EA, Avery RL, Foley ED, Aiello LP, Smith LE.

Proc Natl Acad Sci U S A. 1995 Jan 31;92(3):905-9.

Controversies in the management of retinopathy of prematurity.

Pierce EA, Mukai S.

Int Ophthalmol Clin. 1994 Summer;34(3):121-48. Review. No abstract available.

Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease.

Dinauer MC, Pierce EA, Erickson RW, Muhlebach TJ, Messner H, Orkin SH, Seger RA, Curnutte JT.

Proc Natl Acad Sci U S A. 1991 Dec 15;88(24):11231-5.

Size and charge of the functional 1,25-dihydroxyvitamin D receptor in porcine intestine.

Pierce EA, Dame MC, DeLuca HF.

J Biol Chem. 1987 Dec 15;262(35):17092-9.

Purification of human serum vitamin D-binding protein by 25-hydroxyvitamin D3-Sepharose chromatography.

Link RP, Perlman KL, Pierce EA, Schnoes HK, DeLuca HF.

Anal Biochem. 1986 Sep;157(2):262-9.

Monoclonal antibodies to human vitamin D-binding protein.

Pierce EA, Dame MC, Bouillon R, Van Baelen H, DeLuca HF.

Proc Natl Acad Sci U S A. 1985 Dec;82(24):8429-33.

E--camptodactyly in male twins as a manifestation of a generalized disorder of connective tissue.

Pierce EA.

Birth Defects Orig Artic Ser. 1974;10(5):204-6. No abstract available.

D--camptodactyly with associated malformations in the proband.

Pierce EA.

Birth Defects Orig Artic Ser. 1974;10(5):201-3. No abstract available.