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Eric Adam Pierce, M.D., Ph.D.

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Overview
Please note that the correct contact information is as follows:
Tel: 617-573-6917
Fax: 617-573-6920
Email: eric_pierce@meei.harvard.edu


Molecular Genetics of Inherited Blindness
Inherited retinal degenerations such as retinitis pigmentosa (RP) are common causes of blindness. The overall goals of our research program are to improve our understanding of the molecular bases of inherited retinal degenerations and related cilia disorders so that rational therapies can be developed for these diseases.

We currently have 4 active research projects directed towards these goals:

1. The Biology and Diseases of Photoreceptor Sensory Cilia
Cilia are present on most cells in the human body. These structures are typically sensory organelles, and are involved in many critical aspects of cell biology and development. The photoreceptor sensory cilium (PSC) elaborated by each rod and cone photoreceptor cell of the retina is a classic example. Consistent with the importance of cilia in biology, mutations in genes that encode cilia components are common causes of disease. Mutations that cause inherited retinal degenerations, which are common causes of blindness, have been identified in genes encoding more than 40 PSC proteins to date. These disorders are characterized by PSC dysfunction, followed by degeneration and death of the photoreceptor cells, resulting in loss of vision.

We are interested in studying how photoreceptor sensory cilia are built and maintained, and how these processes are disrupted in disease. For example, while there has been notable progress identifying the genetic causes of inherited retinal degenerations and other cilia disorders, the genes that harbor mutations which cause disease in half of patients with inherited retinal degeneration remain to be identified. To help understand PSCs better, and facilitate identification of new retinal degeneration disease genes, we performed a series of proteomic analyses to identify all of the proteins in mouse photoreceptor sensory cilia. The results show that PSCs are made of almost 2000 proteins, including ~1500 proteins not detected in cilia from lower organisms. This database of PSC proteins has already proved to be very useful. For example, in the past year we have used the list of genes that encode novel PSC proteins to help identify one confirmed and four potential new retinal degeneration disease genes.

Retinitis Pigmentosa 1
Part of our work on PSCs is focused on the retinitis pigmentosa 1 (RP1) protein. Mutations in RP1 are a common cause of dominant RP, which is the most common form of inherited retinal degeneration. Work in our lab has found that the RP1 protein is a photoreceptor microtubule-associated protein that is required for the correct formation of PSCs. We are now working to identify proteins that interact with RP1 in order to further define how it participates in PSC formation, and study how its mutations lead to photoreceptor cell death. We are also beginning to test potential therapies for RP1 disease, including gene augmentation therapy, in point mutation Rp1 knockin mice.

2. RNA Splicing Factor Retinitis Pigmentosa
Mutations in genes that encode the RNA splicing factors are common causes retinitis pigmentosa (RP). Despite their prevalence, the pathogenesis of these disorders is not understood. The splicing factors affected, pre-mRNA processing factor (PRPF) 3, PRPF6, PRPF8, PRPF31 are highly conserved components of the spliceosome, the complex which excises introns from nascent RNA transcripts to generate mature mRNAs. Since RNA splicing is required in all cells, it is not clear how mutations in these ubiquitous proteins lead to retina-specific disease. We hypothesize that mutations in these RNA splicing factors disrupt RNA splicing and lead to the generation of aberrant transcripts and proteins in the retina and other tissues, one or more of which are pathogenic in the retina. We have generated Prpf3 and Prpf8 knockin mice, and obtained Prpf31 mutant mice from collaborators, to investigate the pathogenesis of the RNA splicing factor forms of RP. We are now using next generation sequencing based transcriptome analyses to identify aberrant mRNAs that may be pathogenic in these disorders.

3. Inherited Macular Degeneration
Age-related macular degeneration (AMD) is one of the most common cause of vision loss in developed countries. The most characteristic clinical finding in the retinas of patients with AMD is drusen, or extracellular deposits of protein, lipid and debris that accumulate underneath the retinal pigment epithelium (RPE). At present, the etiology of drusen in AMD is not known, and there are only limited treatments are available to prevent the progression of AMD. In order to gain insight into the pathogenesis of AMD, we are studying an inherited form of macular degeneration called Doyne honeycomb retinal dystrophy (DHRD)/Malattia Leventinese (ML). Both DHRD and ML are caused by a single mutation, Arg-345 to Trp (R345W), in the EFEMP1 or Fibulin-3 gene. We have used gene targeting techniques to introduce this mutation into the Efemp1 gene of mice. We have found that the Efemp1-R345W knockin mice develop AMD-like deposits under their retinas, and are now using proteomic analyses to study the pathogenesis of these lesions.

4. Oligonucleotide-Directed Gene Targeting and Gene Correction
The fundamental premise of this project that oligodeoxynucleotides (ODNs) can be used to introduce sequence-specific alterations into the genomic DNA of stem cells. In mouse embryonic stem (ES) cells, the goal of ODN-mediated gene targeting is to create knock-in mouse models of human disease. In adult and induced pluripotent stem cells (iPS), the use of ODNs is directed toward the therapeutic correction of pathogenic mutations in human disease genes. Results generated from our research and from other investigators in the past several years have demonstrated proof of principle for this approach. We are workinng to build on these successes to develop strategies for broad application of ODN-mediated gene correction for the treatment of human disease and ODN-mediated gene targeting for the generation of mouse models of disease.

Research
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. R01EY026904 (PIERCE, ERIC A) Sep 30, 2017 - Jun 30, 2022
    NIH/NEI
    Genetic Causes and Genetic Modifiers of Inherited Retinal Degenerations
    Role: Principal Investigator
  2. R01EY020902 (PIERCE, ERIC A) Apr 1, 2011 - Mar 31, 2020
    NIH/NEI
    The Pathogenesis of RNA Splicing Factor Retinitis Pigmentosa
    Role: Principal Investigator
  3. R03EY013776 (PIERCE, ERIC A) Aug 1, 2001 - Jul 31, 2003
    NIH/NEI
    ANIMALS WITH TARGETED MUTATIONS IN PHOTORECEPTOR GENES
    Role: Principal Investigator
  4. R01EY012910 (PIERCE, ERIC A) Jul 8, 1999 - Jun 30, 2009
    NIH/NEI
    Precision Medicine for Inherited Retinal Degenerations
    Role: Principal Investigator
  5. K11EY000343 (PIERCE, ERIC A) Jul 1, 1994 - Jun 30, 1999
    NIH/NEI
    BIOCHEMICAL BASIS OF RETINAL NEOVASCULARIZATION
    Role: Principal Investigator

Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Cogné B, Latypova X, Senaratne LDS, Martin L, Koboldt DC, Kellaris G, Fievet L, Le Meur G, Caldari D, Debray D, Nizon M, Frengen E, Bowne SJ, Cadena EL, Daiger SP, Bujakowska KM, Pierce EA, Gorin M, Katsanis N, Bézieau S, Petersen-Jones SM, Occelli LM, Lyons LA, Legeai-Mallet L, Sullivan LS, Davis EE, Isidor B. Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy. Am J Hum Genet. 2020 Apr 28. PMID: 32386558.
    Citations:    
  2. Bronstein R, Capowski EE, Mehrotra S, Jansen AD, Navarro-Gomez D, Maher M, Place E, Sangermano R, Bujakowska KM, Gamm DM, Pierce EA. A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families. Hum Mol Genet. 2020 Apr 15; 29(6):967-979. PMID: 32011687.
    Citations:    
  3. Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM. Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations. Genet Med. 2020 Feb 10. PMID: 32037395.
    Citations:    
  4. Scott HA, Place EM, Ferenchak K, Zampaglione E, Wagner NE, Chao KR, DiTroia SP, Navarro-Gomez D, Mukai S, Huckfeldt RM, Pierce EA, Bujakowska KM. Expanding the phenotypic spectrum in RDH12-associated retinal disease. Cold Spring Harb Mol Case Stud. 2020 Feb; 6(1). PMID: 32014858.
    Citations:    
  5. Shakhmantsir I, Dooley SJ, Kishore S, Chen D, Pierce E, Bennett J, Sehgal A. RNA Splicing Factor Mutations That Cause Retinitis Pigmentosa Result in Circadian Dysregulation. J Biol Rhythms. 2020 Feb; 35(1):72-83. PMID: 31726916.
    Citations:    
  6. Brydon EM, Bronstein R, Buskin A, Lako M, Pierce EA, Fernandez-Godino R. AAV-Mediated Gene Augmentation Therapy Restores Critical Functions in Mutant PRPF31+/- iPSC-Derived RPE Cells. Mol Ther Methods Clin Dev. 2019 Dec 13; 15:392-402. PMID: 31890732.
    Citations:    
  7. Wan A, Place E, Pierce EA, Comander J. Characterizing variants of unknown significance in rhodopsin: A functional genomics approach. Hum Mutat. 2019 08; 40(8):1127-1144. PMID: 30977563.
    Citations:    
  8. Okur V, Cho MT, van Wijk R, van Oirschot B, Picker J, Coury SA, Grange D, Manwaring L, Krantz I, Muraresku CC, Hulick PJ, May H, Pierce E, Place E, Bujakowska K, Telegrafi A, Douglas G, Monaghan KG, Begtrup A, Wilson A, Retterer K, Anyane-Yeboa K, Chung WK. De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet. 2019 07; 27(7):1081-1089. PMID: 30778173.
    Citations:    
  9. Pendse ND, Lamas V, Pawlyk BS, Maeder ML, Chen ZY, Pierce EA, Liu Q. In Vivo Assessment of Potential Therapeutic Approaches for USH2A-Associated Diseases. Adv Exp Med Biol. 2019; 1185:91-96. PMID: 31884594.
    Citations:    
  10. Daiger SP, Sullivan LS, Bowne SJ, Cadena ED, Koboldt D, Bujakowska KM, Pierce EA. Detection of Large Structural Variants Causing Inherited Retinal Diseases. Adv Exp Med Biol. 2019; 1185:197-202. PMID: 31884611.
    Citations:    
  11. Greenwald SH, Pierce EA. Parthanatos as a Cell Death Pathway Underlying Retinal Disease. Adv Exp Med Biol. 2019; 1185:323-327. PMID: 31884632.
    Citations:    
  12. Buskin A, Zhu L, Chichagova V, Basu B, Mozaffari-Jovin S, Dolan D, Droop A, Collin J, Bronstein R, Mehrotra S, Farkas M, Hilgen G, White K, Pan KT, Treumann A, Hallam D, Bialas K, Chung G, Mellough C, Ding Y, Krasnogor N, Przyborski S, Zwolinski S, Al-Aama J, Alharthi S, Xu Y, Wheway G, Szymanska K, McKibbin M, Inglehearn CF, Elliott DJ, Lindsay S, Ali RR, Steel DH, Armstrong L, Sernagor E, Urlaub H, Pierce E, Lührmann R, Grellscheid SN, Johnson CA, Lako M. Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa. Nat Commun. 2018 10 12; 9(1):4234. PMID: 30315276.
    Citations:    Fields:    Translation:HumansAnimalsCells
  13. 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. Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene. Invest Ophthalmol Vis Sci. 2018 10 01; 59(12):4812-4820. PMID: 30347075.
    Citations:    Fields:    
  14. 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. USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Hum Mol Genet. 2018 10 01; 27(19):3305-3312. PMID: 29917077.
    Citations: 1     Fields:    
  15. Chung DC, Bertelsen M, Lorenz B, Pennesi ME, Leroy BP, Hamel CP, Pierce E, Sallum J, Larsen M, Stieger K, Preising M, Weleber R, Yang P, Place E, Liu E, Schaefer G, DiStefano-Pappas J, Elci OU, McCague S, Wellman JA, High KA, Reape KZ. The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene. Am J Ophthalmol. 2019 03; 199:58-70. PMID: 30268864.
    Citations:    Fields:    
  16. Pierce E. Genome Editing for Inherited Retinal Degenerations. Ophthalmology. 2018 09; 125(9):1431-1432. PMID: 30143094.
    Citations:    Fields:    
  17. 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. Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration. Genet Med. 2019 03; 21(3):694-704. PMID: 30072743.
    Citations:    Fields:    
  18. Duncan JL, Pierce EA, Laster AM, Daiger SP, Birch DG, Ash JD, Iannaccone A, Flannery JG, Sahel JA, Zack DJ, Zarbin MA. Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps. Transl Vis Sci Technol. 2018 Jul; 7(4):6. PMID: 30034950.
    Citations: 1     
  19. Fernandez-Godino R, Pierce EA. C3a triggers formation of sub-retinal pigment epithelium deposits via the ubiquitin proteasome pathway. Sci Rep. 2018 06 26; 8(1):9679. PMID: 29946065.
    Citations:    Fields:    
  20. Gupta PR, Pendse N, Greenwald SH, Leon M, Liu Q, Pierce EA, Bujakowska KM. Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects. Hum Mol Genet. 2018 06 01; 27(11):2012-2024. PMID: 29659833.
    Citations:    Fields:    
  21. Li P, Kleinstiver BP, Leon MY, Prew MS, Navarro-Gomez D, Greenwald SH, Pierce EA, Joung JK, Liu Q. Allele-Specific CRISPR-Cas9 Genome Editing of the Single-Base P23H Mutation for Rhodopsin-Associated Dominant Retinitis Pigmentosa. CRISPR J. 2018 02; 1:55-64. PMID: 31021187.
    Citations:    
  22. Fernandez-Godino R, Bujakowska KM, Pierce EA. Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway. Hum Mol Genet. 2018 01 01; 27(1):147-159. PMID: 29095988.
    Citations: 2     Fields:    Translation:HumansCells
  23. Men CJ, Bujakowska KM, Comander J, Place E, Bedoukian EC, Zhu X, Leroy BP, Fulton AB, Pierce EA. The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA. Mol Vis. 2017; 23:695-706. PMID: 29062221.
    Citations:    Fields:    Translation:Humans
  24. Comander J, Weigel-DiFranco C, Maher M, Place E, Wan A, Harper S, Sandberg MA, Navarro-Gomez D, Pierce EA. The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa. Genes (Basel). 2017 Oct 05; 8(10). PMID: 28981474.
    Citations: 2     
  25. Bujakowska KM, Liu Q, Pierce EA. Photoreceptor Cilia and Retinal Ciliopathies. Cold Spring Harb Perspect Biol. 2017 Oct 03; 9(10). PMID: 28289063.
    Citations: 6     Fields:    Translation:HumansAnimalsCells
  26. Liu MM, Farkas M, Spinnhirny P, Pevet P, Pierce E, Hicks D, Zack DJ. De novo assembly and annotation of the retinal transcriptome for the Nile grass rat (Arvicanthis ansorgei). PLoS One. 2017; 12(7):e0179061. PMID: 28759564.
    Citations:    Fields:    Translation:AnimalsCells
  27. 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. Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations. Genet Med. 2017 06; 19(6):643-651. PMID: 27735924.
    Citations: 12     Fields:    Translation:Humans
  28. Arno G, Hull S, Carss K, Dev-Borman A, Chakarova C, Bujakowska K, van den Born LI, Robson AG, Holder GE, Michaelides M, Cremers FP, Pierce E, Raymond FL, Moore AT, Webster AR. Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1. Invest Ophthalmol Vis Sci. 2016 09 01; 57(11):4806-13. PMID: 27623334.
    Citations: 4     Fields:    Translation:Humans
  29. Sebag J, Sadun AA, Pierce EA. Paradigm Shifts in Ophthalmic Diagnostics. Trans Am Ophthalmol Soc. 2016 Aug; 114:WP1. PMID: 28008209.
    Citations: 1     Fields:    Translation:Humans
  30. 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. 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. Lancet. 2016 Aug 13; 388(10045):661-72. PMID: 27375040.
    Citations: 49     Fields:    Translation:HumansCellsCTClinical Trials
  31. Pan J, Liu S, Farkas M, Consugar M, Zack DJ, Kozak I, Arevalo JF, Pierce E, Qian J, Al Kahtani E. Serum molecular signature for proliferative diabetic retinopathy in Saudi patients with type 2 diabetes. Mol Vis. 2016; 22:636-45. PMID: 27307695.
    Citations: 1     Fields:    Translation:Humans
  32. Fernandez-Godino R, Garland DL, Pierce EA. Isolation, culture and characterization of primary mouse RPE cells. Nat Protoc. 2016 07; 11(7):1206-18. PMID: 27281648.
    Citations: 10     Fields:    Translation:AnimalsCells
  33. 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. Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease. Am J Pathol. 2016 07; 186(7):1925-1938. PMID: 27207593.
    Citations: 7     Fields:    Translation:HumansAnimals
  34. 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. A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression. RNA Biol. 2016 05 03; 13(5):477-85. PMID: 26950678.
    Citations: 2     Fields:    Translation:HumansCells
  35. 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. Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy. Am J Hum Genet. 2016 Mar 03; 98(3):592. PMID: 28863275.
    Citations:    Fields:    
  36. Fernandez-Godino R, Pierce EA, Garland DL. Extracellular Matrix Alterations and Deposit Formation in AMD. Adv Exp Med Biol. 2016; 854:53-8. PMID: 26427393.
    Citations: 5     Fields:    Translation:HumansCells
  37. Hafler BP, Comander J, Weigel DiFranco C, Place EM, Pierce EA. Course of Ocular Function in PRPF31 Retinitis Pigmentosa. Semin Ophthalmol. 2016; 31(1-2):49-52. PMID: 26959129.
    Citations: 2     Fields:    Translation:HumansCells
  38. Fernandez-Godino R, Garland DL, Pierce EA. A local complement response by RPE causes early-stage macular degeneration. Hum Mol Genet. 2015 Oct 01; 24(19):5555-69. PMID: 26199322.
    Citations: 10     Fields:    Translation:AnimalsCells
  39. Farkas MH, Au ED, Sousa ME, Pierce EA. RNA-Seq: Improving Our Understanding of Retinal Biology and Disease. Cold Spring Harb Perspect Med. 2015 Feb 26; 5(9):a017152. PMID: 25722474.
    Citations: 3     Fields:    Translation:HumansAnimalsCells
  40. Pierce EA, Bennett J. The Status of RPE65 Gene Therapy Trials: Safety and Efficacy. Cold Spring Harb Perspect Med. 2015 Jan 29; 5(9):a017285. PMID: 25635059.
    Citations: 31     Fields:    Translation:HumansAnimals
  41. 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. Targeted exon sequencing in Usher syndrome type I. Invest Ophthalmol Vis Sci. 2014 Dec 02; 55(12):8488-96. PMID: 25468891.
    Citations: 8     Fields:    Translation:Humans
  42. 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. Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. Genet Med. 2015 Apr; 17(4):253-261. PMID: 25412400.
    Citations: 55     Fields:    Translation:Humans
  43. Werdich XQ, Place EM, Pierce EA. Systemic diseases associated with retinal dystrophies. Semin Ophthalmol. 2014 Sep-Nov; 29(5-6):319-28. PMID: 25325857.
    Citations: 8     Fields:    Translation:HumansCells
  44. 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. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet. 2015 Jan 01; 24(1):230-42. PMID: 25168386.
    Citations: 33     Fields:    Translation:HumansAnimalsCells
  45. Farkas MH, Lew DS, Sousa ME, Bujakowska K, Chatagnon J, Bhattacharya SS, Pierce EA, Nandrot EF. Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium. Am J Pathol. 2014 Oct; 184(10):2641-52. PMID: 25111227.
    Citations: 7     Fields:    Translation:HumansAnimalsCells
  46. 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. A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration. Am J Pathol. 2014 Oct; 184(10):2721-9. PMID: 25088982.
    Citations: 6     Fields:    Translation:HumansAnimalsCells
  47. 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. Exome-based mapping and variant prioritization for inherited Mendelian disorders. Am J Hum Genet. 2014 Mar 06; 94(3):373-84. PMID: 24560519.
    Citations: 22     Fields:    Translation:Humans
  48. 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. Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP). Adv Exp Med Biol. 2014; 801:123-9. PMID: 24664689.
    Citations: 9     Fields:    Translation:Humans
  49. Wiggs JL, Pierce EA. Genetic testing for inherited eye disease: who benefits? JAMA Ophthalmol. 2013 Oct; 131(10):1265-6. PMID: 23949187.
    Citations: 12     Fields:    Translation:Humans
  50. Ehrenberg M, Pierce EA, Cox GF, Fulton AB. CRB1: one gene, many phenotypes. Semin Ophthalmol. 2013 Sep-Nov; 28(5-6):397-405. PMID: 24138049.
    Citations: 7     Fields:    Translation:Humans
  51. 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. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet. 2013 Sep 05; 93(3):482-95. PMID: 23993194.
    Citations: 21     Fields:    Translation:HumansCells
  52. Garland DL, Fernandez-Godino R, Kaur I, Speicher KD, Harnly JM, Lambris JD, Speicher DW, Pierce EA. Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration. Hum Mol Genet. 2014 Jan 01; 23(1):52-68. PMID: 23943789.
    Citations: 13     Fields:    Translation:HumansAnimals
  53. Farkas MH, Grant GR, White JA, Sousa ME, Consugar MB, Pierce EA. 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. BMC Genomics. 2013 Jul 18; 14:486. PMID: 23865674.
    Citations: 61     Fields:    Translation:HumansCells
  54. 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. Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2. Ophthalmology. 2013 Jun; 120(6):1283-91. PMID: 23474247.
    Citations: 94     Fields:    Translation:HumansCells
  55. Wojno AP, Pierce EA, Bennett J. Seeing the light. Sci Transl Med. 2013 Mar 06; 5(175):175fs8. PMID: 23467559.
    Citations: 7     Fields:    Translation:Humans
  56. Falk MJ, Pierce EA, Consugar M, Xie MH, Guadalupe M, Hardy O, Rappaport EF, Wallace DC, LeProust E, Gai X. Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome. Discov Med. 2012 Dec; 14(79):389-99. PMID: 23272691.
    Citations: 13     Fields:    Translation:HumansCells
  57. Liu Q, Collin RW, Cremers FP, den Hollander AI, van den Born LI, Pierce EA. Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype. PLoS One. 2012; 7(8):e43251. PMID: 22927954.
    Citations: 8     Fields:    Translation:HumansAnimalsCells
  58. 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. NMNAT1 mutations cause Leber congenital amaurosis. Nat Genet. 2012 Sep; 44(9):1040-5. PMID: 22842227.
    Citations: 50     Fields:    Translation:HumansCells
  59. Zhang Q, Liu Q, Austin C, Drummond I, Pierce EA. Knockdown of ttc26 disrupts ciliogenesis of the photoreceptor cells and the pronephros in zebrafish. Mol Biol Cell. 2012 Aug; 23(16):3069-78. PMID: 22718903.
    Citations: 10     Fields:    Translation:AnimalsCells
  60. 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. AAV2 gene therapy readministration in three adults with congenital blindness. Sci Transl Med. 2012 Feb 08; 4(120):120ra15. PMID: 22323828.
    Citations: 127     Fields:    Translation:HumansCellsCTClinical Trials
  61. Schrier SA, Wong LJ, Place E, Ji JQ, Pierce EA, Golden J, Santi M, Anninger W, Falk MJ. Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts. Discov Med. 2012 Feb; 13(69):143-50. PMID: 22369973.
    Citations: 3     Fields:    Translation:Humans
  62. Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Morinière V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum Mutat. 2012 Mar; 33(3):457-66. PMID: 22213154.
    Citations: 30     Fields:    Translation:HumansAnimals
  63. Farkas MH, Grant GR, Pierce EA. Transcriptome analyses to investigate the pathogenesis of RNA splicing factor retinitis pigmentosa. Adv Exp Med Biol. 2012; 723:519-25. PMID: 22183372.
    Citations: 3     Fields:    Translation:HumansCells
  64. Grant GR, Farkas MH, Pizarro AD, Lahens NF, Schug J, Brunk BP, Stoeckert CJ, Hogenesch JB, Pierce EA. Comparative analysis of RNA-Seq alignment algorithms and the RNA-Seq unified mapper (RUM). Bioinformatics. 2011 Sep 15; 27(18):2518-28. PMID: 21775302.
    Citations: 141     Fields:    Translation:AnimalsCells
  65. 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. Generation of Cre transgenic mice with postnatal RPE-specific ocular expression. Invest Ophthalmol Vis Sci. 2011 Mar; 52(3):1378-83. PMID: 21212186.
    Citations: 22     Fields:    Translation:AnimalsCells
  66. 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. Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing. Invest Ophthalmol Vis Sci. 2011 Jan 25; 52(1):494-503. PMID: 20861475.
    Citations: 36     Fields:    Translation:Humans
  67. 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, 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. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 Mar; 43(3):189-96. PMID: 21258341.
    Citations: 135     Fields:    Translation:HumansAnimalsCells
  68. Cao H, Wu J, Lam S, Duan R, Newnham C, Molday RS, Graziotto JJ, Pierce EA, Hu J. Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP. PLoS One. 2011 Jan 19; 6(1):e15860. PMID: 21283520.
    Citations: 15     Fields:    Translation:AnimalsCells
  69. Graziotto JJ, Farkas MH, Bujakowska K, Deramaudt BM, Zhang Q, Nandrot EF, Inglehearn CF, Bhattacharya SS, Pierce EA. Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration. Invest Ophthalmol Vis Sci. 2011 Jan; 52(1):190-8. PMID: 20811066.
    Citations: 17     Fields:    Translation:AnimalsCells
  70. 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. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet. 2010 Oct; 42(10):840-50. PMID: 20835237.
    Citations: 139     Fields:    Translation:HumansAnimalsCells
  71. Westfall JE, Hoyt C, Liu Q, Hsiao YC, Pierce EA, Page-McCaw PS, Ferland RJ. Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1. J Neurosci. 2010 Jun 30; 30(26):8759-68. PMID: 20592197.
    Citations: 29     Fields:    Translation:AnimalsCells
  72. 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. Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes. Hum Mutat. 2010 May; 31(5):E1361-76. PMID: 20232351.
    Citations: 9     Fields:    Translation:HumansAnimals
  73. 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. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Am J Hum Genet. 2010 02 12; 86(2):248-53. PMID: 20159112.
    Citations: 41     Fields:    Translation:HumansCells
  74. Daiger SP, Sullivan LS, Bowne SJ, Birch DG, Heckenlively JR, Pierce EA, Weinstock GM. Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa. Adv Exp Med Biol. 2010; 664:325-31. PMID: 20238032.
    Citations: 20     Fields:    Translation:Humans
  75. Liu Q, Zhang Q, Pierce EA. Photoreceptor sensory cilia and inherited retinal degeneration. Adv Exp Med Biol. 2010; 664:223-32. PMID: 20238021.
    Citations: 14     Fields:    Translation:HumansAnimalsCells
  76. 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. Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol Ther. 2010 Mar; 18(3):643-50. PMID: 19953081.
    Citations: 195     Fields:    Translation:HumansCellsCTClinical Trials
  77. 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. Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet. 2009 Nov 07; 374(9701):1597-605. PMID: 19854499.
    Citations: 283     Fields:    Translation:HumansCellsCTClinical Trials
  78. 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, Pierce EA, Inglehearn CF. Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. Am J Hum Genet. 2009 May; 84(5):683-91. PMID: 19409519.
    Citations: 26     Fields:    Translation:HumansAnimalsCells
  79. Liu Q, Saveliev A, Pierce EA. The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background. Invest Ophthalmol Vis Sci. 2009 Apr; 50(4):1566-74. PMID: 19060274.
    Citations: 12     Fields:    Translation:AnimalsCells
  80. Graziotto JJ, Inglehearn CF, Pack MA, Pierce EA. Decreased levels of the RNA splicing factor Prpf3 in mice and zebrafish do not cause photoreceptor degeneration. Invest Ophthalmol Vis Sci. 2008 Sep; 49(9):3830-8. PMID: 18552388.
    Citations: 9     Fields:    Translation:AnimalsCells
  81. Maguire AM, Simonelli F, Pierce EA, Pugh EN, 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. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med. 2008 May 22; 358(21):2240-8. PMID: 18441370.
    Citations: 748     Fields:    Translation:HumansCellsCTClinical Trials
  82. Flagler K, Alexeev V, Pierce EA, Igoucheva O. Site-specific gene modification by oligodeoxynucleotides in mouse bone marrow-derived mesenchymal stem cells. Gene Ther. 2008 Jul; 15(14):1035-48. PMID: 18337839.
    Citations: 4     Fields:    Translation:AnimalsCells
  83. Spellicy CJ, Daiger SP, Sullivan LS, Zhu J, Liu Q, Pierce EA, Bowne SJ. Characterization of retinal inosine monophosphate dehydrogenase 1 in several mammalian species. Mol Vis. 2007 Oct 03; 13:1866-72. PMID: 17960124.
    Citations: 6     Fields:    Translation:HumansAnimalsCells
  84. Fu L, Garland D, Yang Z, Shukla D, Rajendran A, Pearson E, Stone EM, Zhang K, Pierce EA. The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. Hum Mol Genet. 2007 Oct 15; 16(20):2411-22. PMID: 17666404.
    Citations: 40     Fields:    Translation:HumansAnimals
  85. Liu Q, Tan G, Levenkova N, Li T, Pugh EN, Rux JJ, Speicher DW, Pierce EA. The proteome of the mouse photoreceptor sensory cilium complex. Mol Cell Proteomics. 2007 Aug; 6(8):1299-317. PMID: 17494944.
    Citations: 155     Fields:    Translation:AnimalsCells
  86. Jimeno D, Feiner L, Lillo C, Teofilo K, Goldstein LS, Pierce EA, Williams DS. Analysis of kinesin-2 function in photoreceptor cells using synchronous Cre-loxP knockout of Kif3a with RHO-Cre. Invest Ophthalmol Vis Sci. 2006 Nov; 47(11):5039-46. PMID: 17065525.
    Citations: 38     Fields:    Translation:AnimalsCells
  87. Murphy BR, Moayedpardazi HS, Gewirtz AM, Diamond SL, Pierce EA. Delivery and mechanistic considerations for the production of knock-in mice by single-stranded oligonucleotide gene targeting. Gene Ther. 2007 Feb; 14(4):304-15. PMID: 17024103.
    Citations: 7     Fields:    Translation:AnimalsCells
  88. Bowne SJ, Liu Q, Sullivan LS, Zhu J, Spellicy CJ, Rickman CB, Pierce EA, Daiger SP. Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration? Invest Ophthalmol Vis Sci. 2006 Sep; 47(9):3754-65. PMID: 16936083.
    Citations: 14     Fields:    Translation:HumansAnimalsCells
  89. Mechoulam H, Pierce EA. Expression and activation of STAT3 in ischemia-induced retinopathy. Invest Ophthalmol Vis Sci. 2005 Dec; 46(12):4409-16. PMID: 16303927.
    Citations: 10     Fields:    Translation:Animals
  90. Liu Q, Zuo J, Pierce EA. The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein. J Neurosci. 2004 Jul 21; 24(29):6427-36. PMID: 15269252.
    Citations: 49     Fields:    Translation:AnimalsCells
  91. Peet JA, Bragin A, Calvert PD, Nikonov SS, Mani S, Zhao X, Besharse JC, Pierce EA, Knox BE, Pugh EN. Quantification of the cytoplasmic spaces of living cells with EGFP reveals arrestin-EGFP to be in disequilibrium in dark adapted rod photoreceptors. J Cell Sci. 2004 Jun 15; 117(Pt 14):3049-59. PMID: 15197244.
    Citations: 39     Fields:    Translation:AnimalsCells
  92. Ma H, Liu Q, Diamond SL, Pierce EA. Mouse embryonic stem cells efficiently lipofected with nuclear localization peptide result in a high yield of chimeric mice and retain germline transmission potency. Methods. 2004 Jun; 33(2):113-20. PMID: 15121165.
    Citations: 2     Fields:    Translation:AnimalsCells
  93. Liu Q, Lyubarsky A, Skalet JH, Pugh EN, Pierce EA. RP1 is required for the correct stacking of outer segment discs. Invest Ophthalmol Vis Sci. 2003 Oct; 44(10):4171-83. PMID: 14507858.
    Citations: 40     Fields:    Translation:HumansAnimalsCells
  94. 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. Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. Mol Vis. 2003 Apr 24; 9:129-37. PMID: 12724644.
    Citations: 11     Fields:    Translation:HumansAnimalsCells
  95. Pierce EA, Liu Q, Igoucheva O, Omarrudin R, Ma H, Diamond SL, Yoon K. Oligonucleotide-directed single-base DNA alterations in mouse embryonic stem cells. Gene Ther. 2003 Jan; 10(1):24-33. PMID: 12525834.
    Citations: 18     Fields:    Translation:AnimalsCells
  96. Mechoulam H, Pierce EA. Retinopathy of prematurity: molecular pathology and therapeutic strategies. Am J Pharmacogenomics. 2003; 3(4):261-77. PMID: 12930159.
    Citations: 16     Fields:    Translation:HumansAnimals
  97. 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. Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. Proc Natl Acad Sci U S A. 2002 Apr 16; 99(8):5698-703. PMID: 11960024.
    Citations: 40     Fields:    Translation:HumansAnimalsCells
  98. Liu Q, Zhou J, Daiger SP, Farber DB, Heckenlively JR, Smith JE, Sullivan LS, Zuo J, Milam AH, Pierce EA. Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. Invest Ophthalmol Vis Sci. 2002 Jan; 43(1):22-32. PMID: 11773008.
    Citations: 42     Fields:    Translation:HumansAnimalsCells
  99. Yang S, Tutton S, Pierce E, Yoon K. Specific double-stranded RNA interference in undifferentiated mouse embryonic stem cells. Mol Cell Biol. 2001 Nov; 21(22):7807-16. PMID: 11604515.
    Citations: 52     Fields:    Translation:AnimalsCells
  100. Ashley SW, Perez A, Pierce EA, Brooks DC, Moore FD, Whang EE, Banks PA, Zinner MJ. Necrotizing pancreatitis: contemporary analysis of 99 consecutive cases. Ann Surg. 2001 Oct; 234(4):572-9; discussion 579-80. PMID: 11573050.
    Citations: 42     Fields:    Translation:Humans
  101. Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, Sandberg MA, Dryja TP. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). Invest Ophthalmol Vis Sci. 2001 Sep; 42(10):2217-24. PMID: 11527933.
    Citations: 20     Fields:    Translation:Humans
  102. Pierce EA. Pathways to photoreceptor cell death in inherited retinal degenerations. Bioessays. 2001 Jul; 23(7):605-18. PMID: 11462214.
    Citations: 34     Fields:    Translation:HumansAnimalsCells
  103. 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. Retinal expression, regulation, and functional bioactivity of prostacyclin-stimulating factor. J Clin Invest. 2000 Aug; 106(4):541-50. PMID: 10953029.
    Citations: 10     Fields:    Translation:AnimalsCells
  104. Jacobson SG, Cideciyan AV, Iannaccone A, Weleber RG, Fishman GA, Maguire AM, Affatigato LM, Bennett J, Pierce EA, Danciger M, Farber DB, Stone EM. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2000 Jun; 41(7):1898-908. PMID: 10845615.
    Citations: 35     Fields:    Translation:HumansCells
  105. Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet. 1999 Jul; 22(3):248-54. PMID: 10391211.
    Citations: 54     Fields:    Translation:HumansAnimalsCells
  106. Sinha D, Esumi N, Jaworski C, Kozak CA, Pierce E, Wistow G. Cloning and mapping the mouse Crygs gene and non-lens expression of [gamma]S-crystallin. Mol Vis. 1998 Apr 30; 4:8. PMID: 9565648.
    Citations: 16     Fields:    Translation:AnimalsCells
  107. Young TL, Anthony DC, Pierce E, Foley E, Smith LE. Histopathology and vascular endothelial growth factor in untreated and diode laser-treated retinopathy of prematurity. J AAPOS. 1997 Jun; 1(2):105-10. PMID: 10875087.
    Citations: 22     Fields:    Translation:HumansCells
  108. Pierce EA, Foley ED, Smith LE. Regulation of vascular endothelial growth factor by oxygen in a model of retinopathy of prematurity. Arch Ophthalmol. 1996 Oct; 114(10):1219-28. PMID: 8859081.
    Citations: 103     Fields:    Translation:HumansAnimalsCells
  109. Robinson GS, Pierce EA, Rook SL, Foley E, Webb R, Smith LE. Oligodeoxynucleotides inhibit retinal neovascularization in a murine model of proliferative retinopathy. Proc Natl Acad Sci U S A. 1996 May 14; 93(10):4851-6. PMID: 8643492.
    Citations: 67     Fields:    Translation:AnimalsCells
  110. Aiello LP, Pierce EA, Foley ED, Takagi H, Chen H, Riddle L, Ferrara N, King GL, Smith LE. Suppression of retinal neovascularization in vivo by inhibition of vascular endothelial growth factor (VEGF) using soluble VEGF-receptor chimeric proteins. Proc Natl Acad Sci U S A. 1995 Nov 07; 92(23):10457-61. PMID: 7479819.
    Citations: 248     Fields:    Translation:Animals
  111. Pierce EA, Mukai S. Controversies in the management of retinopathy of prematurity. Int Ophthalmol Clin. 1994; 34(3):121-48. PMID: 7960509.
    Citations: 1     Fields:    Translation:Humans
  112. Dinauer MC, Pierce EA, Erickson RW, Muhlebach TJ, Messner H, Orkin SH, Seger RA, Curnutte JT. 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. Proc Natl Acad Sci U S A. 1991 Dec 15; 88(24):11231-5. PMID: 1763037.
    Citations: 26     Fields:    Translation:HumansCells
  113. Dinauer MC, Pierce EA, Bruns GA, Curnutte JT, Orkin SH. Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. J Clin Invest. 1990 Nov; 86(5):1729-37. PMID: 2243141.
    Citations: 72     Fields:    Translation:HumansAnimalsCells
  114. Schleutermann D, Pierce E, Cantolino Sj, Naidoff M. Retinitis pigmentosa, autosomal dominant type: two kindreds. Birth Defects Orig Artic Ser. 1971 Mar; 7(3):178-9. PMID: 5173137.
    Citations:    Fields:    Translation:Humans
  115. Schleutermann D, Pierce E, Cantolino SJ, Naidoff M. Retinitis pigmentosa, autosomal recessive type: three kindreds. Birth Defects Orig Artic Ser. 1971 Mar; 7(3):180-2. PMID: 5173138.
    Citations:    Fields:    Translation:Humans
  116. Schleutermann D, Pierce E, Cantolino SJ, Naidoff M, Hussels IE. Retinitis pigmentosa, X-linked form: two kindreds. Birth Defects Orig Artic Ser. 1971 Mar; 7(3):183-4. PMID: 5173139.
    Citations:    Fields:    Translation:HumansCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.