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Recent Publications

 Recent Publications 3-26-2013

 
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. Investigative Ophthalmology & Visual Sciences 52:190- 198, 2011. PMID: 20811066.
 
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. Investigative Ophthalmology & Visual Sciences 52:494-503, 2011. PMID: 20861475.
 
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. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature Genetics 43:189-196, 2011. PMID: 21258341.
 
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. Investigative Ophthalmology & Visual Sciences 52:1378-1383, 2011. PMID: 21212186.
 
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 27:2518-2528, 2011. PMID: 21775302.
 
Farkas MH, Grant GR, Pierce EA. Transcriptome analyses to investigate thepathogenesis of RNA splicing factor retinitis pigmentosa. Advances Experimental Medicine Biology 723:519-525, 2012. PMID: 22183372.
 
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. Science Translational Medicine 120:120ra15, 2012. PMID: 22323828.
 
Zhang Q, Liu Q, Austin C, Drummond I, Pierce EA. Knockdown of ttc25 disrupts ciliogenesisof the photoreceptor cells and the pronephros in zebrafish. Molecular Biology of the Cell, 16:3069-78, 2012. PMID: 22718903.
 
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 J-A, Moore AT, Berson EL, Liu Q, Gai X# and EA Pierce#. Mutations in NMNAT1 cause Leber Congenital Amaurosis. Nature Genetics 44:1040-5, 2012. PMID:22842227  (*Co-first authors; #co-corresponding authors)
 
Liu Q, Collin RWJ, Cremers FPM, den Hollander Al, van den Born I, Pierce EA. Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phentoptype. PLoS One 7:4325, 2012. PMID:22927954
 
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. Discovery Medicine 14:389-99, 2012. PMID: 23272691.