F.M. Kirby Center for Molecular Ophthalmology
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Eric A. Pierce's Lab

Recent Publications

Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel JC, Szymanska K, Ramaswam 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, Reiger S, Tönshoff B, Kern I, Soliman N, 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 & N Katsanis.  IFT139 contributes both causal and modifying alleles across the ciliopathy spectrum.  Nature Genetics 43: 189-196, 2011.

Graziotto JJ, Farkas MF, Bujakowska K, Deramaudt BM, Zhang Q, Nandrot EF, Inglehearn CF, Bhattacharya SS and EA Pierce.  Three Gene Targeted Mouse Models of RNA Splicing Factor RP Show Late Onset RPE and Retinal Degeneration.  Investigative Ophthalmology & Visual Sciences 52: 190-8, 2011.

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 &SP Daiger.: Identification of Disease-Causing Mutations in Autosomal Dominant Retinitis Pigmentosa (adRP) Using Next-Generation DNA Sequencing. Investigative Ophthalmology & Visual Sciences 52: 494-503, 2011.

Westfall JE, Hoyt C, Liu Q, 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. Journal Neuroscience 30: 8759-68, 2010.

Liu Q, Saveliev A and EA Pierce.  The Severity of Retinal Degeneration in Rp1h Gene Targeted Mice is Dependent Upon Genetic Background.  Investigative Ophthalmology & Visual Sciences 50:1566–1574, 2009. 

Graziotto JJ, Inglehearn CF, Pack MA and EA Pierce.  Decreased levels of the RNA Splicing Factor Prpf3 in Mice and Zebrafish Do Not Cause Photoreceptor Degeneration.  Investigative Ophthalmology & Visual Sciences 49:3830-3839, 2008.

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 and J Bennett.  Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis.  New England Journal Medicine 358:2240-2248, 2008.

Flagler K, Alexeev V, Pierce EA and O Igoucheva.  Site-specific gene modification by oligodeoxynucleotides in mouse bone marrow-derived mesenchymal stem cells.  Gene Therapy 13:1-14, 2008.

Liu Q, Tan G, Levenkova N, Li T, Pugh EN, Rux JJ, Speicher DW, and EA Pierce.  The proteome of the mouse photoreceptor sensory cilium complex.  Molecular & Cellular Proteomics published online May 9, 2007, 10.1074/mcp.M700054-MCP200. [pdf]

Fu L, Garland D, Yang Z, Shukla D, Rajendran A, Pearson E, Stone EM, Zhang K and EA Pierce.  The R345W Mutation in EFEMP1 is Pathogenic, and Causes AMD-Like Deposits in Mice.  Human Molecular Genetics, In Press, doi: 10.1093/hmg/ddm198, 2007.  [pdf]

Murphy BR, Moayedpardazi HS, Gewirtz AM, Diamond SL and  EA Pierce.  Delivery and mechanistic considerations for the production of knock-in mice by single-stranded oligonucleotide gene targeting.  Gene Therapy 14:304-315, 2007. [pdf]

*Indicates equal first authors. #Indicates co-corresponding authors.

[PubMed Link]

Yun Liu

Yun Liu

 

University of Pennsylvania | Perelman School of Medicine