Photoreceptor Cilia and Retinal Ciliopathies
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Published in Cold Spring Harbor perspectives in biology (01.10.2017)
Published in Cold Spring Harbor perspectives in biology (01.10.2017)
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Isolation, culture and characterization of primary mouse RPE cells
Fernandez-Godino, Rosario, Garland, Donita L, Pierce, Eric A
Published in Nature protocols (01.07.2016)
Published in Nature protocols (01.07.2016)
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Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations
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Published in Genetics in medicine (01.06.2020)
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Complement C5 is not critical for the formation of sub-RPE deposits in Efemp1 mutant mice
Garland, Donita L, Pierce, Eric A, Fernandez-Godino, Rosario
Published in Scientific reports (17.05.2021)
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Comparative analysis of RNA-Seq alignment algorithms and the RNA-Seq unified mapper (RUM)
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Three-Year Follow-up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2
Testa, Francesco, MD, PhD, Maguire, Albert M., MD, Rossi, Settimio, MD, Pierce, Eric A., MD, PhD, Melillo, Paolo, PhD, Marshall, Kathleen, COT, Banfi, Sandro, MD, Surace, Enrico M., DVM, Sun, Junwei, MS, Acerra, Carmela, BA, Wright, J. Fraser, PhD, Wellman, Jennifer, MS, High, Katherine A., MD, Auricchio, Alberto, MD, Bennett, Jean, MD, PhD, Simonelli, Francesca, MD
Published in Ophthalmology (Rochester, Minn.) (01.06.2013)
Published in Ophthalmology (Rochester, Minn.) (01.06.2013)
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The Proteome of the Mouse Photoreceptor Sensory Cilium Complex
Liu, Qin, Tan, Glenn, Levenkova, Natasha, Li, Tiansen, Pugh, Edward N., Rux, John J., Speicher, David W., Pierce, Eric A.
Published in Molecular & cellular proteomics (01.08.2007)
Published in Molecular & cellular proteomics (01.08.2007)
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A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families
Bronstein, Revital, Capowski, Elizabeth E, Mehrotra, Sudeep, Jansen, Alex D, Navarro-Gomez, Daniel, Maher, Mathew, Place, Emily, Sangermano, Riccardo, Bujakowska, Kinga M, Gamm, David M, Pierce, Eric A
Published in Human molecular genetics (15.04.2020)
Published in Human molecular genetics (15.04.2020)
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In Vivo Assessment of Potential Therapeutic Approaches for USH2A-Associated Diseases
Pendse, Nachiket D, Lamas, Veronica, Pawlyk, Basil S, Maeder, Morgan L, Chen, Zheng-Yi, Pierce, Eric A, Liu, Qin
Published in Advances in experimental medicine and biology (2019)
Published in Advances in experimental medicine and biology (2019)
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Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy
Poulter, James A., Ali, Manir, Gilmour, David F., Rice, Aine, Kondo, Hiroyuki, Hayashi, Kenshi, Mackey, David A., Kearns, Lisa S., Ruddle, Jonathan B., Craig, Jamie E., Pierce, Eric A., Downey, Louise M., Mohamed, Moin D., Markham, Alexander F., Inglehearn, Chris F., Toomes, Carmel
Published in American journal of human genetics (12.02.2010)
Published in American journal of human genetics (12.02.2010)
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Generation of a human induced pluripotent stem cell line (OGIi001) from peripheral blood mononuclear cells of a healthy male donor
Zhang, Hanmeng, Daheron, Laurence, Cerna-Chavez, Rodrigo, Place, Emily M., Huckfeldt, Rachel M., Pierce, Eric A., Garita-Hernandez, Marcela
Published in Stem cell research (01.02.2024)
Published in Stem cell research (01.02.2024)
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AAV-Mediated Gene Augmentation Therapy Restores Critical Functions in Mutant PRPF31+/− iPSC-Derived RPE Cells
Brydon, Elizabeth M., Bronstein, Revital, Buskin, Adriana, Lako, Majlinda, Pierce, Eric A., Fernandez-Godino, Rosario
Published in Molecular therapy. Methods & clinical development (13.12.2019)
Published in Molecular therapy. Methods & clinical development (13.12.2019)
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Allele-Specific CRISPR-Cas9 Genome Editing of the Single-Base P23H Mutation for Rhodopsin-Associated Dominant Retinitis Pigmentosa
Li, Pingjuan, Kleinstiver, Benjamin P, Leon, Mihoko Y, Prew, Michelle S, Navarro-Gomez, Daniel, Greenwald, Scott H, Pierce, Eric A, Joung, J Keith, Liu, Qin
Published in CRISPR journal (01.02.2018)
Published in CRISPR journal (01.02.2018)
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Investigating cone photoreceptor development using patient-derived NRL null retinal organoids
Kallman, Alyssa, Capowski, Elizabeth E, Wang, Jie, Kaushik, Aniruddha M, Jansen, Alex D, Edwards, Kimberly L, Chen, Liben, Berlinicke, Cynthia A, Joseph Phillips, M, Pierce, Eric A, Qian, Jiang, Wang, Tza-Huei, Gamm, David M, Zack, Donald J
Published in Communications biology (21.02.2020)
Published in Communications biology (21.02.2020)
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Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders
Koboldt, Daniel C., Larson, David E., Sullivan, Lori S., Bowne, Sara J., Steinberg, Karyn M., Churchill, Jennifer D., Buhr, Aimee C., Nutter, Nathan, Pierce, Eric A., Blanton, Susan H., Weinstock, George M., Wilson, Richard K., Daiger, Stephen P.
Published in American journal of human genetics (06.03.2014)
Published in American journal of human genetics (06.03.2014)
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Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP
Cao, Huibi, Wu, Jing, Lam, Simon, Duan, Rongqi, Newnham, Catherine, Molday, Robert S, Graziotto, John J, Pierce, Eric A, Hu, Jim
Published in PloS one (19.01.2011)
Published in PloS one (19.01.2011)
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The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice
Fu, Li, Garland, Donita, Yang, Zhenglin, Shukla, Dhananjay, Rajendran, Anand, Pearson, Erik, Stone, Edwin M., Zhang, Kang, Pierce, Eric A.
Published in Human molecular genetics (15.10.2007)
Published in Human molecular genetics (15.10.2007)
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