Contact Information
Primary Office
4135E MERF
Iowa City, IA 52242
319-335-8222
Education
BS, Biology, Wheaton CollegeMS, Biology, Saint Louis University
PhD, Cell and Molecular Biology, Saint Louis University
Education/Training Program Affiliations
Interdisciplinary Graduate Program in Genetics, Interdisciplinary Graduate Program in Molecular MedicineCenter, Program and Institute Affiliations
Carver Family Center for Macular Degeneration, Center on Aging, Institute for Vision ResearchResearch Summary
Our laboratory's primary research interests revolve around the structural and molecular basis for degenerative diseases of the retina, with particular focus on the retinal pigment epithelium in Best disease and the choriocapillaris in age-related macular degeneration. Best disease is a relatively rare but potentially devastating form of macular degeneration. Over one hundred different mutations in the responsible gene, VMD2/bestrophin, can result in this autosomal dominant disorder. Bestrophin most likely functions as a chloride channel and thus may regulate the ionic milieu in the subretinal space. We are using both in situ approaches and in vitro approaches to understand how specific mutations affect behavior of the mutant protein and to examine the regional distribution of the bestrophin protein in normal eyes, as well as to evaluate genotype-phenotype relationships for eyes with Best disease. Age-related macular degeneration (AMD) is a common cause of blindness that affects as many as one in three elderly individuals to some degree. With the increasing median age of the population, it is widely appreciated that the impact of AMD will worsen in the coming years. Recent genetic and histopathologic studies indicate that AMD is associated with inflammation, and there is strong evidence for leukocyte extravasation in the pathogenesis of the disease; however the role of the vasculature in recruiting leukocytes during these inflammatory events is poorly understood. The choriocapillaris is the capillary bed responsible for nourishing the photoreceptor cells of the retina, and is the most likely source for recruiting leukocytes in AMD. We are interested in determining the biological changes of the choriocapillaris in eyes with macular degeneration by examining human donor tissue, as well as cell surface molecules that differ between normal and neovascular endothelial cells. In addition to ?descriptive? studies in situ, we are interested in characterizing the molecular responses of human choroidal endothelial cells (cultured from human eyes) to the types of microenvironmental pro-inflammatory challenges that occur in macular degeneration, including exposure to complement components and products of extracellular matrix protein degradation. Molecular and functional assays of human choroidal EC are performed in the presence or absence of these ?AMD microenvironment? challenges. In addition we have several active collaborations in The University of Iowa, evaluating animal models of inherited retinal diseases, and assisting other faculty in answering histological questions in the eye.Publications
Sacconi, R., Lutty, G. A., Mullins, R. F., Borrelli, E., Bandello, F. & Querques, G. (2019). Subretinal pseudocysts: A novel OCT finding in diabetic macular edema. American Journal of Ophthalmology Case Reports, 16. DOI: 10.1016/j.ajoc.2019.100567.
Han, I. C., Burnight, E. R., Ulferts, M. J., Worthington, K. S., Russell, S. R., Sohn, E. H., Mullins, R. F., Stone, E. M., Tucker, B. A. & Wiley, L. A. (2019). Helper-dependent adenovirus transduces the human and rat retina but elicits an inflammatory reaction when delivered subretinally in rats. Human Gene Therapy, 30(11), 1371-1384. DOI: 10.1089/hum.2019.159.
Giacalone, J. C., Miller, M. J., Workalemahu, G., Reutzel, A. J., Ochoa, D., Whitmore, S. S., Stone, E. M., Tucker, B. A. & Mullins, R. F. (2019). Generation of an immortalized human choroid endothelial cell line (iChEC-1) using an endothelial cell specific promoter. Microvascular Research, 123, 50-57. DOI: 10.1016/j.mvr.2018.12.002.
Giacalone, J. C., Andorf, J. L., Zhang, Q., Burnight, E. R., Ochoa, D., Reutzel, A. J., Collins, M. M., Sheffield, V. C., Mullins, R. F., Han, I. C., Stone, E. M. & Tucker, B. A. (2019). Development of a Molecularly Stable Gene Therapy Vector for the Treatment of RPGR-Associated X-Linked Retinitis Pigmentosa. Human Gene Therapy, 30(8), 967-974. DOI: 10.1089/hum.2018.244.
Sohn, E. H., Flamme-Wiese, M. J., Whitmore, S. S., Workalemahu, G., Marneros, A. G., Boese, E. A., Kwon, Y. H., Wang, K., Abramoff, M. D., Tucker, B. A., Stone, E. M. & Mullins, R. F. (2019). Choriocapillaris Degeneration in Geographic Atrophy. American Journal of Pathology, 189(7), 1473-1480. DOI: 10.1016/j.ajpath.2019.04.005.
Mullins, R. F., McGwin, Gerald, Jr.,, Searcey, K., Clark, M. E., Kennedy, E. L., Curcio, C. A., Stone, E. M. & Owsley, C. (2019). The ARMS2 A69S Polymorphism Is Associated with Delayed Rod-Mediated Dark Adaptation in Eyes at Risk for Incident Age-Related Macular Degeneration. Ophthalmology, 126(4), 591-600. DOI: 10.1016/j.ophtha.2018.10.037.
Jiao, C., Eliott, D., Spee, C., He, S., Wang, K., Mullins, R. F., Hinton, D. R. & Sohn, E. H. (2019). Apoptosis and Angiofibrosis in Diabetic Tractional Membranes After Vascular Endothelial Growth Factor Inhibition: Results of a Prospective Trial. Report No. 2. Retina (Philadelphia, Pa.). PMID: 29190236.
Han, I. C., Whitmore, S. S., Critser, D. B., Lee, S. Y., DeLuca, A. P., Daggett, H. T., Affatigato, L. M., Mullins, R. F., Tucker, B. A., Drack, A. V. & Stone, E. M. (2019). Wide-Field Swept-Source OCT and Angiography in X-Linked Retinoschisis. Ophthalmology Retina, 3(2), 178-185. DOI: 10.1016/j.oret.2018.09.006.
Sohn, E. H., Strohbehn, A., Stryjewski, T., Brodowska, K., Flamme-Wiese, M. J., Mullins, R. F. & Eliott, D. (In Press). Posteriorly inserted vitreous base: preoperative characteristics, intraoperative findings, and outcomes after vitrectomy. Retina. PMID: 30883531.
Voigt, A. P., Whitmore, S. S., Flamme-Wiese, M. J., Riker, M. J., Wiley, L. A., Tucker, B. A., Stone, E. M., Mullins, R. F. & Scheetz, T. E. (2019). Molecular characterization of foveal versus peripheral human retina by single-cell RNA sequencing. Experimental Eye Research, 184, 234-242. DOI: 10.1016/j.exer.2019.05.001.
Voigt, A. P., Mulfaul, K., Mullin, N. K., Flamme-Wiese, M. J., Giacalone, J. C., Stone, E. M., Tucker, B. A., Scheetz, T. E. & Mullins, R. F. (2019). Single-cell transcriptomics of the human retinal pigment epithelium and choroid in health and macular degeneration. Proceedings of the National Academy of Sciences of the United States of America, 116(48), 24100-24107. DOI: 10.1073/pnas.1914143116.
Tyler, S. R., Rotti, P. G., Sun, X., Yi, Y., Xie, W., Winter, M. C., Flamme-Wiese, M. J., Tucker, B. A., Mullins, R. F., Norris, A. W. & Engelhardt, J. F. (2019). PyMINEr Finds Gene and Autocrine-Paracrine Networks from Human Islet scRNA-Seq. Cell Reports, 26(7), 1951-+. DOI: 10.1016/j.celrep.2019.01.063.
Thompson, J. R., Worthington, K. S., Green, B. J., Mullin, N. K., Jiao, C., Kaalberg, E. E., Wiley, L. A., Han, I. C., Russell, S. R., Sohn, E. H., Guymon, C. A., Mullins, R. F., Stone, E. M. & Tucker, B. A. (2019). Two-photon polymerized poly(caprolactone) retinal cell delivery scaffolds and their systemic and retinal biocompatibility. ACTA Biomaterialia, 94, 204-218. DOI: 10.1016/j.actbio.2019.04.057.
Spaide, R. F., Yannuzzi, L., Freund, K. B., Mullins, R. & Stone, E. (2019). Eyes with Subretinal Drusenoid Deposits and No Drusen Progression of Macular Findings. Retina-The Journal of Retinal and Vitreous Diseases, 39(1), 12-26. DOI: 10.1097/IAE.0000000000002362.
Scruggs, B. A., Jiao, C., Cranston, C. M., Kaalberg, E., Wang, K., Russell, S. R., Wiley, L. A., Mullins, R. F., Stone, E. M., Tucker, B. A. & Sohn, E. H. (2019). Optimizing Donor Cellular Dissociation and Subretinal Injection Parameters for Stem Cell-Based Treatments. Stem Cells Translational Medicine, 8(8), 797-809. DOI: 10.1002/sctm.18-0210.
Hauser, M. A., Allingham, R. R., Aung, T., Van Der Heide, Carly J.,, Taylor, K. D., Rotter, J. I., Wang, S. J., Bonnemaijer, Pieter W. M.,, Williams, S. E., Abdullahi, S. M., Abu-Amero, K. K., Anderson, M. G., Akafo, S., Alhassan, M. B., Asimadu, I., Ayyagari, R., Bakayoko, S., Nyamsi, P. B., Bowden, D. W., Bromley, W. C., Budenz, D. L., Carmichael, T. R., Challa, P., Chen, Y. I., Chuka-Okosa, C. M., Bailey, Jessica N. Cooke,, Costa, V. P., Cruz, D. A., DuBiner, H., Ervin, J. F., Feldman, R. M., Flamme-Wiese, M., Gaasterland, D. E., Garnai, S. J., Girkin, C. A., Guirou, N., Guo, X., Haines, J. L., Hammond, C. J., Herndon, L., Hoffmann, T. J., Hulette, C. M., Hydara, A., Igo, Robert P., Jr.,, Jorgenson, E., Kabwe, J., Kilangalanga, N. J., Kizor-Akaraiwe, N., Kuchtey, R. W., Lamari, H., Li, Z., Liebmann, J. M., Liu, Y., Loos, Ruth J. F.,, Melo, M. B., Moroi, S. E., Msosa, J. M., Mullins, R. F., Nadkarni, G., Napo, A., Ng, Maggie C. Y.,, Nunes, H. F., Obeng-Nyarkoh, E., Okeke, A., Okeke, S., Olaniyi, O., Olawoye, O., Oliveira, M. B., Pasquale, L. R., Perez-Grossmann, R. A., Pericak-Vance, M. A., Qin, X., Ramsay, M., Resnikoff, S., Richards, J. E., Schimiti, R. B., Sim, K. S., Sponsel, W. E., Svidnicki, P. V., Thiadens, Alberta A. H. J.,, Uche, N. J., van Duijn, Cornelia M.,, Cabral de Vasconcellos, Jose Paulo,, Wiggs, J. L., Zangwill, L. M., Risch, N., Milea, D., Ashaye, A., Klaver, Caroline C. W.,, Weinreb, R. N., Koch, Allison E. Ashley,, Fingert, J. H. & Khor, C. C. (2019). Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry. JAMA-Journal of the American Medical Association, 322(17), 1682-1691. DOI: 10.1001/jama.2019.16161.
Bohrer, L. R., Wiley, L. A., Burnight, E. R., Cooke, J. A., Giacalone, J. C., Anfinson, K. R., Andorf, J. L., Mullins, R. F., Stone, E. M. & Tucker, B. A. (2019). Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9. Genes, 10(4). DOI: 10.3390/genes10040278.
Sacconi, R., Mullins, R. F., Lutty, G. A., Borrelli, E., Bandello, F. & Querques, G. (2019). Subretinal pseudocyst: A novel optical coherence tomography finding in age-related macular degeneration. European Journal of Ophthalmology. DOI: 10.1177/1120672119846437.
Cheng, J. L., Beebe, J. D., Nepple, K. G., Zakharia, Y., Mullins, R. F., Flamme-Wiese, M. J., Thurtell, M. J. & Han, I. C. (2018). Autoimmune retinopathy and optic neuropathy associated with enolase-positive renal oncocytoma. American Journal of Ophthalmology Case Reports, 12, 55-60. DOI: 10.1016/j.ajoc.2018.09.005.
Chirco, K. R., Flamme-Wiese, M. J., Wiley, J. S., Potempa, L. A., Stone, E. M., Tucker, B. A. & Mullins, R. F. (2018). Evaluation of serum and ocular levels of membrane attack complex and C-reactive protein in CFH-genotyped human donors. Eye, 32(11), 1740-1742. DOI: 10.1038/s41433-018-0170-8.
Cheng, J., Sohn, E. H., Jiao, C., Adler, K. L., Kaalberg, E. E., Russell, S. R., Mullins, R. F., Stone, E. M., Tucker, B. A. & Han, I. C. (2018). Correlation of optical coherence tomography and retinal histology in normal and Pro23His retinal degeneration pig. Translational Vision Science and Technology, 7(6). DOI: 10.1167/tvst.7.6.18.
Zeng, S., Wen, K., Workalemahu, G., Sohn, E. H., Wu, M., Chirco, K. R., Flamme-Wiese, M. J., Liu, X., Stone, E. M., Tucker, B. A. & Mullins, R. F. (2018). Imidazole Compounds for Protecting Choroidal Endothelial Cells from Complement Injury. Scientific Reports, 8(1), 13387. DOI: 10.1038/s41598-018-31846-z.
Wagoner, M. D., Bohrer, L. R., Aldrich, B. T., Greiner, M. A., Mullins, R. F., Worthington, K. S., Tucker, B. A. & Wiley, L. A. (2018). Feeder-free differentiation of cells exhibiting characteristics of corneal endothelium from human induced pluripotent stem cells. Biology open, 7(5). PMID: 29685994.
Wiley, L. A., Burnight, E. R., Kaalberg, E. E., Jiao, C., Riker, M. J., Halder, J. A., Luse, M. A., Han, I. C., Russell, S. R., Sohn, E. H., Stone, E. M., Tucker, B. A. & Mullins, R. F. (2018). Assessment of Adeno-Associated Virus Serotype Tropism in Human Retinal Explants. Human gene therapy, 29(4), 424-436. PMID: 29160116.
Burnight, E. R., Giacalone, J. C., Cooke, J. A., Thompson, J. R., Bohrer, L. R., Chirco, K. R., Drack, A. V., Fingert, J. H., Worthington, K. S., Wiley, L. A., Mullins, R. F., Stone, E. M. & Tucker, B. A. (In Press). CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration. Progress in retinal and eye research. PMID: 29578069.
Giacalone, J. C., Sharma, T. P., Burnight, E. R., Fingert, J. F., Mullins, R. F., Stone, E. M. & Tucker, B. A. (2018). CRISPR-Cas9-Based Genome Editing of Human Induced Pluripotent Stem Cells. Current protocols in stem cell biology, 44, 5B.7.1-5B.7.22. PMID: 29512106.
Sohn, E. H., Mullins, R. F. & Stone, E. M. (2018). Macular Dystrophies. In A. P. Schachat , et al. (Eds.) Ryan’s Retina. (6th), pp. 953-996. Edinburgh: Elsevier.
Chirco, K. R., Lewis, C. J., Scheetz, T. E., Johnston, R. M., Tucker, B. A., Stone, E. M., Fingert, J. H. & Mullins, R. F. (2018). Evaluation of sFLT1 protein levels in human eyes with the FLT1 rs9943922 polymorphism. Ophthalmic genetics, 39(1), 68-72. PMID: 28949775.
Burnight, E. R., Bohrer, L. R., Giacalone, J. C., Klaahsen, D. L., Daggett, H. T., East, J. S., Madumba, R. A., Worthington, K. S., Mullins, R. F., Stone, E. M., Tucker, B. A. & Wiley, L. A. (2018). CRISPR-Cas9-Mediated Correction of the 1.02 kb Common Deletion in CLN3 in Induced Pluripotent Stem Cells from Patients with Batten Disease. The CRISPR Journal, 1(1), 75-87. DOI: 10.1089/crispr.2017.0015.
Green, B. J., Worthington, K. S., Thompson, J. R., Bunn, S. J., Rethwisch, M., Kaalberg, E. E., Jiao, C., Wiley, L. A., Mullins, R. F., Stone, E. M., Sohn, E. H., Tucker, B. A. & Guymon, C. A. (2018). Effect of Molecular Weight and Functionality on Acrylated Poly(caprolactone) for Stereolithography and Biomedical Applications. Biomacromolecules, 19(9), 3682-3692. DOI: 10.1021/acs.biomac.8b00784.
Zhao, Z., Liang, Y., Liu, Y., Xu, P., Flamme-Wiese, M. J., Sun, D., Sun, J., Mullins, R. F., Chen, Y. & Cai, J. (2017). Choroidal ?d T cells in protection against retinal pigment epithelium and retinal injury. FASEB J, 31(11), 4903-4916. PMID: 28729290.
Sohn, E. H., Chirco, K. R., Folk, J. C. & Mullins, R. F. (2017). Clinicopathological Correlation in a Patient With Previously Treated Birdshot Chorioretinopathy. Retinal cases & brief reports, 11(4), 344-347. PMID: 27465484.
Chirco, K. R., Worthington, K. S., Flamme-Wiese, M. J., Riker, M. J., Andrade, J. D., Ueberheide, B. M., Stone, E. M., Tucker, B. A. & Mullins, R. F. (2017). Preparation and evaluation of human choroid extracellular matrix scaffolds for the study of cell replacement strategies. Acta biomaterialia, 57, 293-303. PMID: 28483697.
Songstad, A. E., Worthington, K. S., Chirco, K. R., Giacalone, J. C., Whitmore, S. S., Anfinson, K. R., Ochoa, D., Cranston, C. M., Riker, M. J., Neiman, M., Stone, E. M., Mullins, R. F. & Tucker, B. A. (2017). Connective Tissue Growth Factor Promotes Efficient Generation of Human induced pluripotent stem cell-Derived Choroidal Endothelium. Stem cells translational medicine, 6(6), 1533-1546. PMID: 28474838.
Stone, E. M., Andorf, J. L., Whitmore, S. S., DeLuca, A. P., Giacalone, J. C., Streb, L. M., Braun, T. A., Mullins, R. F., Scheetz, T. E., Sheffield, V. C. & Tucker, B. A. (2017). Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. Ophthalmology, 124(9), 1314-1331. DOI: 10.1016/j.ophtha.2017.04.008.
Mullins, R. F., Warwick, A. N., Sohn, E. H. & Lotery, A. J. (2017). From Compliment to Insult: Genetics of the Complement System in Physiology and Disease in the Human Retina. Human molecular genetics, 26(R1), R51-R57. PMID: 28482029.
Guziewicz, K. E., Sinha, D., Gómez, N. M., Zorych, K., Dutrow, E. V., Dhingra, A., Mullins, R. F., Stone, E. M., Gamm, D. M., Boesze-Battaglia, K. & Aguirre, G. D. (2017). Bestrophinopathy: An RPE-photoreceptor interface disease. Progress in retinal and eye research, 58, 70-88. PMID: 28111324.
Worthington, K. S., Wiley, L. A., Kaalberg, E. E., Collins, M. M., Mullins, R. F., Stone, E. M. & Tucker, B. A. (2017). Two-photon polymerization for production of human iPSC-derived retinal cell grafts. Acta biomaterialia. PMID: 28351682.
Sharma, T. P., Wiley, L. A., Whitmore, S. S., Anfinson, K. R., Cranston, C. M., Oppedal, D. J., Daggett, H. T., Mullins, R. F., Tucker, B. A. & Stone, E. M. (2017). Patient-specific induced pluripotent stem cells to evaluate the pathophysiology of TRNT1-associated Retinitis pigmentosa. Stem cell research, 21, 58-70. PMID: 28390992.
Mullins, R. F. (2017). Drusen on Demand? Authors Describe a Novel Culture System for Generating subRPE Deposits. Investigative ophthalmology & visual science, 58(2), 720. PMID: 28152142.
Chirco, K. R., Sohn, E. H., Stone, E. M., Tucker, B. A. & Mullins, R. F. (2017). Structural and molecular changes in the aging choroid: implications for age-related macular degeneration. Eye (London, England), 31(1), 10-25. PMID: 27716746.
Fingert, J. H., Miller, K., Hedberg-Buenz, A., Roos, B. R., Lewis, C. J., Mullins, R. F. & Anderson, M. G. (2017). Transgenic TBK1 mice have features of normal tension glaucoma. Human molecular genetics, 26(1), 124-132. PMID: 28025332.
Wiley, L. A., Anfinson, K. R., Cranston, C. M., Kaalberg, E. E., Collins, M. M., Mullins, R. F., Stone, E. M. & Tucker, B. A. (2017). Generation of Xeno-Free, cGMP-Compliant Patient-Specific iPSCs from Skin Biopsy. Curr Protoc Stem Cell Biol, 42, 4A.12.1-4A.12.14. PMID: 28806854.
Burnight, E. R., Gupta, M., Wiley, L. A., Anfinson, K. R., Tran, A., Triboulet, R., Hoffmann, J. M., Klaahsen, D. L., Andorf, J. L., Jiao, C., Sohn, E. H., Adur, M. K., Ross, J. W., Mullins, R. F., Daley, G. Q., Schlaeger, T. M., Stone, E. M. & Tucker, B. A. (2017). Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration. Mol Ther, 25(9), 1999-2013. DOI: 10.1016/j.ymthe.2017.05.015.
Chirco, K. R., Hazlewood, R. J., Miller, K., Workalemahu, G., Jampol, L. M., Lesser, G. R., Mullins, R. F., Kuehn, M. H. & Fingert, J. H. (2016). MMP19 expression in the human optic nerve. Molecular vision, 22, 1429-1436. PMID: 28003733.
Lee, W. H., Higuchi, H., Ikeda, S., Macke, E. L., Takimoto, T., Pattnaik, B. R., Liu, C., Chu, L. F., Siepka, S. M., Krentz, K. J., Rubinstein, C. D., Kalejta, R. F., Thomson, J. A., Mullins, R. F., Takahashi, J. S., Pinto, L. H. & Ikeda, A. (2016). Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies. eLife, 5. PMID: 27863209.
Blitvich, B. J., Wang, T., Saxena, V., Zeng, S., Harmon, K. M., Raymond, M. D., Goins, K. M., Reed, C. R., Mullins, R. F. & Greiner, M. A. (2016). West Nile Virus Infection in Human and Mouse Cornea Tissue. The American journal of tropical medicine and hygiene, 95(5), 1185-1191. PMID: 27672204.
Worthington, K. S., Wiley, L. A., Mullins, R. F., Tucker, B. A. & Nuxoll, E. (2016). Prevascularized silicon membranes for the enhancement of transport to implanted medical devices. Journal of biomedical materials research. Part B, Applied biomaterials, 104(8), 1602-1609. PMID: 26316050.
Chirco, K. R., Whitmore, S. S., Wang, K., Potempa, L. A., Halder, J. A., Stone, E. M., Tucker, B. A. & Mullins, R. F. (2016). Monomeric C-reactive protein and inflammation in age-related macular degeneration. The Journal of pathology, 240(2), 173-83. PMID: 27376713.
Wiley, L. A., Burnight, E. R., DeLuca, A. P., Anfinson, K. R., Cranston, C. M., Kaalberg, E. E., Penticoff, J. A., Affatigato, L. M., Mullins, R. F., Stone, E. M. & Tucker, B. A. (2016). cGMP production of patient-specific iPSCs and photoreceptor precursor cells to treat retinal degenerative blindness. Scientific reports, 6, 30742. PMID: 27471043.
Wiley, L. A., Burnight, E. R., Drack, A. V., Banach, B. B., Ochoa, D., Cranston, C. M., Madumba, R. A., East, J. S., Mullins, R. F., Stone, E. M. & Tucker, B. A. (In Press). Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal Degeneration. Human gene therapy. PMID: 27400765.
Wiley, L. A., Beebe, D. C., Mullins, R. F., Stone, E. M. & Tucker, B. A. (2016). A Method for Sectioning and Immunohistochemical Analysis of Stem Cell-Derived 3-D Organoids. Current protocols in stem cell biology, 37, 1C.19.1-1C.19.11. PMID: 27171793.
Sohn, E. H., van Dijk, H. W., Jiao, C., Kok, P. H., Jeong, W., Demirkaya, N., Garmager, A., Wit, F., Kucukevcilioglu, M., van Velthoven, M. E., DeVries, J. H., Mullins, R. F., Kuehn, M. H., Schlingemann, R. O., Sonka, M., Verbraak, F. D. & Abramoff, M. D. (2016). Retinal neurodegeneration may precede microvascular changes characteristic of diabetic retinopathy in diabetes mellitus. Proceedings of the National Academy of Sciences USA, 113(19), E2655-E64. PMID: 27114552.
Chirco, K. R., Tucker, B. A., Stone, E. M. & Mullins, R. F. (2016). Selective accumulation of the complement membrane attack complex in aging choriocapillaris. Experimental eye research, 146, 393-7. PMID: 26368849.
Zeng, S., Whitmore, S. S., Sohn, E. H., Riker, M. J., Wiley, L. A., Scheetz, T. E., Stone, E. M., Tucker, B. A. & Mullins, R. F. (2016). Molecular response of chorioretinal endothelial cells to complement injury: implications for macular degeneration. The Journal of pathology, 238(3), 446-56. PMID: 26564985.
Giacalone, J. C., Wiley, L. A., Burnight, E. R., Songstad, A. E., Mullins, R. F., Stone, E. M. & Tucker, B. A. (2016). Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye Disease. Stem Cells Transl Med, 5(2), 132-40. PMID: 26683869.
DeLuca, A. P., Whitmore, S. S., Barnes, J., Sharma, T. P., Westfall, T. A., Scott, C. A., Weed, M. C., Wiley, J. S., Wiley, L. A., Johnston, R. M., Schnieders, M. J., Lentz, S. R., Tucker, B. A., Mullins, R. F., Scheetz, T. E., Stone, E. M. & Slusarski, D. C. (2016). Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet, 25(1), 44-56. PMID: 26494905.
Small, K. W., DeLuca, A. P., Whitmore, S. S., Rosenberg, T., Silva-Garcia, R., Udar, N., Puech, B., Garcia, C. A., Rice, T. A., Fishman, G. A., Heon, E., Folk, J. C., Streb, L. M., Haas, C. M., Wiley, L. A., Scheetz, T. E., Fingert, J. H., Mullins, R. F., Tucker, B. A. & Stone, E. M. (2016). North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13. Ophthalmology, 123(1), 9-18. PMID: 26507665.
Wiley, L. A., Kaalberg, E. E., Penticoff, J. A., Mullins, R. F., Stone, E. M. & Tucker, B. A. (2016). Expression of the retina-specific flippase, ABCA4, in epidermal keratinocytes. F1000Research, 5, article number 193. DOI: 10.12688/f1000research.8089.1.
Sohn, E. H., Jiao, C., Kaalberg, E., Cranston, C., Mullins, R. F., Stone, E. M. & Tucker, B. A. (2015). Allogenic iPSC-derived RPE cell transplants induce immune response in pigs: a pilot study. Sci Rep, 5, 11791. PMID: 26138532.
Tien, T., Muto, T., Zhang, J., Sohn, E. H., Mullins, R. F. & Roy, S. (2015). Association of reduced Connexin 43 expression with retinal vascular lesions in human diabetic retinopathy. Exp Eye Res, 146, 103-106. PMID: 26738943.
Adhi, M., Ferrara, D., Mullins, R. F., Baumal, C. R., Mohler, K. J., Kraus, M. F., Liu, J., Badaro, E., Alasil, T., Hornegger, J., Fujimoto, J. G., Duker, J. S. & Waheed, N. K. (2015). Characterization of Choroidal Layers in Normal Aging Eyes Using Enface Swept-Source Optical Coherence Tomography. PLoS One, 10(7), e0133080. PMID: 26172550.
Sohn, E. H., Wang, K., Thompson, S., Riker, M. J., Hoffmann, J. M., Stone, E. M. & Mullins, R. F. (2015). Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration. Retina, 35(1), 48-57. PMID: 25077532.
Almeida, D. R., Zhang, L., Chin, E. K., Mullins, R. F., Kucukevcilioglu, M., Critser, D. B., Sonka, M., Stone, E. M., Folk, J. C., Abramoff, M. D. & Russell, S. R. (2015). Comparison of retinal and choriocapillaris thicknesses following sitting to supine transition in healthy individuals and patients with age-related macular degeneration. JAMA Ophthalmol, 133(3), 297-303. PMID: 25521616.
Whitmore, S. S., Sohn, E. H., Chirco, K. R., Drack, A. V., Stone, E. M., Tucker, B. A. & Mullins, R. F. (2015). Complement activation and choriocapillaris loss in early AMD: Implications for pathophysiology and therapy. Prog Retin Eye Res, 45C, 1-29. PMID: 25486088.
Almeida, D. R., Chin, E. K., Tarantola, R. M., Folk, J. C., Boldt, H. C., Skeie, J. M., Mullins, R. F., Russell, S. R. & Mahajan, V. B. (2015). Effect of internal limiting membrane abrasion on retinal tissues in macular holes. Invest Ophthalmol Vis Sci, 56(5), 2783-9. PMID: 26024069.
Songstad, A. E., Wiley, L. A., Duong, K., Kaalberg, E., Flamme-Wiese, M. J., Cranston, C. M., Riker, M. J., Levasseur, D., Stone, E. M., Mullins, R. F. & Tucker, B. A. (2015). Generating iPSC-Derived Choroidal Endothelial Cells to Study Age-Related Macular Degeneration. Invest Ophthalmol Vis Sci, 56(13), 8258-67. PMID: 26720480.
Hazlewood, R. J., Roos, B. R., Solivan-Timpe, F., Honkanen, R. A., Jampol, L. M., Gieser, S. C., Meyer, K. J., Mullins, R. F., Kuehn, M. H., Scheetz, T. E., Kwon, Y. H., Alward, W. L., Stone, E. M. & Fingert, J. H. (2015). Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly. Hum Mutat, 36(3), 369-378. PMID: 25581579.
Wiley, L. A., Burnight, E. R., Songstad, A. E., Drack, A. V., Mullins, R. F., Stone, E. M. & Tucker, B. A. (2015). Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases. Prog Retin Eye Res, 44, 15-35. PMID: 25448922.
Greiner, M. A., Burckart, K. A., Wagoner, M. D., Schmidt, G. A., Reed, C. R., Liaboe, C. A., Flamme-Wiese, M. J., Zimmerman, M. B., Mullins, R. F., Kardon, R. H., Goins, K. M. & Aldrich, B. T. (2015). Regional assessment of energy-producing metabolic activity in the endothelium of donor corneas. Invest Ophthalmol Vis Sci, 56(5), 2803-10. DOI: 10.1167/iovs.15-16442.
Tucker, B. A., Cranston, C. M., Anfinson, K. A., Shrestha, S., Streb, L. M., Leon, A., Mullins, R. F. & Stone, E. M. (2015). Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial. Transl Res, 166(6), 740-749.e1. PMID: 26364624.
Zhang, L., Buitendijk, G. H., Lee, K., Sonka, M., Springelkamp, H., Hofman, A., Vingerling, J. R., Mullins, R. F., Klaver, C. C. & Abramoff, M. D. (2015). Validity of Automated Choroidal Segmentation in SS-OCT and SD-OCT. Invest Ophthalmol Vis Sci, 56(5), 3202-11. PMID: 26024104.
Stunkel, M., Bhattarai, S., Kemerley, A., Stone, E. M., Wang, K., Mullins, R. F. & Drack, A. V. (2015). Vitritis in Pediatric Genetic Retinal Disorders. Ophthalmology, 122(1), 192-199. PMID: 25217415.
Drack, A. V., Mullins, R. F., Pfeifer, W. L., Augustine, E. F., Stasheff, S. F. & Hong, S. D. (2015). Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease). OPHTHALMIC GENETICS, 36(4), 359-364. DOI: 10.3109/13816810.2014.886271.
Suzuki, M., Curcio, C. A., Mullins, R. F. & Spaide, R. F. (2015). REFRACTILE DRUSEN Clinical Imaging and Candidate Histology. Retina-The Journal of Retinal and Vitreous Diseases, 35(5), 859-865.
Wiley, L. A., Burnight, E. R., Mullins, R. F., Stone, E. M. & Tucker, B. A. (2014). Stem cells as tools for studying the genetics of inherited retinal degenerations. Cold Spring Harb Perspect Med, 5(5), a017160. PMID: 25502747.
Whitmore, S. S., Wagner, A. H., DeLuca, A. P., Drack, A. V., Stone, E. M., Tucker, B. A., Zheng, S., Braun, T. A., Mullins, R. F. & Scheetz, T. E. (2014). Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq. Exp Eye Res, 129, 93-106. PMID: 25446321.
Burnight, E. R., Wiley, L. A., Mullins, R. F., Stone, E. M. & Tucker, B. A. (2014). Gene therapy using stem cells. Cold Spring Harb Perspect Med, 5(4). PMID: 25395375.
Swiderski, R. E., Nakano, Y., Mullins, R. F., Seo, S. & Bánfi, B. (2014). A mutation in the mouse Ttc26 gene leads to impaired Hedgehog signaling. PLOS Genetics, 10(10), e1004689. PMID: 25340710.
Schubert, C., Pryds, A., Zeng, S., Xie, Y., Freund, K. B., Spaide, R. F., Merriam, J. C., Barbazetto, I., Slakter, J. S., Chang, S., Munch, I. C., Drack, A. V., Hernandez, J., Yzer, S., Merriam, J. E., Linneberg, A., Larsen, M., Yannuzzi, L. A., Mullins, R. F. & Allikmets, R. (2014). Cadherin 5 is Regulated by Corticosteroids and Associated with Central Serous Chorioretinopathy. Hum Mutat, 35(7), 859-67. PMID: 24665005.
Burnight, E. R., Wiley, L. A., Drack, A. V., Braun, T. A., Anfinson, K. R., Kaalberg, E. E., Halder, J. A., Affatigato, L. M., Mullins, R. F., Stone, E. M. & Tucker, B. A. (2014). CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype. Gene Ther, 21(7), 662-72. PMID: 24807808.
Tucker, B. A., Solivan-Timpe, F., Roos, B. R., Anfinson, K. R., Robin, A. L., Wiley, L. A., Mullins, R. F. & Fingert, J. H. (2014). Duplication of TBK1 Stimulates Autophagy in iPSC-derived Retinal Cells from a Patient with Normal Tension Glaucoma. J Stem Cell Res Ther, 3(5), 161. PMID: 24883232.
Murinello, S., Mullins, R. F., Lotery, A. J., Perry, V. H. & Teeling, J. L. (2014). Fc? receptor upregulation is associated with immune complex inflammation in the mouse retina and early age-related macular degeneration. Invest Ophthalmol Vis Sci, 55(1), 247-58. PMID: 24334446.
Ardeljan, D., Wang, Y., Park, S., Shen, D., Chu, X. K., Yu, C. R., Abu-Asab, M., Tuo, J., Eberhart, C. G., Olsen, T. W., Mullins, R. F., White, G., Wadsworth, S., Scaria, A. & Chan, C. C. (2014). Interleukin-17 retinotoxicity is prevented by gene transfer of a soluble interleukin-17 receptor acting as a cytokine blocker: implications for age-related macular degeneration. PLoS One, 9(4), e95900. PMID: 24780906.
Mullins, R. F., Khanna, A., Schoo, D. P., Tucker, B. A., Sohn, E. H., Drack, A. V. & Stone, E. M. (2014). Is age-related macular degeneration a microvascular disease?. Adv Exp Med Biol, 801, 283-9. PMID: 24664709.
Sohn, E. H., Flamme-Wiese, M. J., Whitmore, S. S., Wang, K., Tucker, B. A. & Mullins, R. F. (2014). Loss of CD34 Expression in Aging Human Choriocapillaris Endothelial Cells. PLoS One, 9(1), e86538. PMID: 24466138.
Worthington, K. S., Wiley, L. A., Bartlett, A. M., Stone, E. M., Mullins, R. F., Salem, A. K., Guymon, C. A. & Tucker, B. A. (2014). Mechanical properties of murine and porcine ocular tissues in compression. Exp Eye Res, 121, 194-9. PMID: 24613781.
Abràmoff, M. D., Mullins, R. F. & Stone, E. M. (2014). Outer segment length in different best disease genotypes. JAMA Ophthalmol, 132(9), 1152-1153. PMID: 25210991.
Thompson, S., Blodi, F. R., Lee, S., Welder, C. R., Mullins, R. F., Tucker, B. A., Stasheff, S. F. & Stone, E. M. (2014). Photoreceptor cells with profound structural deficits can support useful vision in mice. Invest Ophthalmol Vis Sci, 55(3), 1859-66. PMID: 24569582.
Tucker, B. A., Mullins, R. F. & Stone, E. M. (2014). Stem Cells for Investigation and Treatment of Inherited Retinal Disease. Hum Mol Genet, 23(R1), R9-R16. PMID: 24647603.
Sohn, E. H., Khanna, A., Tucker, B. A., Abramoff, M. D., Stone, E. M. & Mullins, R. F. (2014). Structural and biochemical analyses of choroidal thickness in human donor eyes. Invest Ophthalmol Vis Sci, 55(3), 1352-60. PMID: 24519422.
Fingert, J. H., Darboro, B., Qian, Q., Van Rheeden, R., Miller, K., Riker, M. R., Solivan Timpe, F., Roos, B., Robin, A. & Mullins, R. F. (2014). TBK1 and flanking genes in human retina. Ophthal Genet, 35(1), 35-40. PMID: 23421332.
Mullins, R. F., Schoo, D. P., Sohn, E. H., Flamme-Wiese, M. J., Workamelahu, G., Johnston, R. M., Wang, K., Tucker, B. A. & Stone, E. M. (2014). The membrane attack complex in aging human choriocapillaris: Relationship to macular degeneration and choroidal thinning. Am J Pathol, 184(11), 3142-3153. PMID: 25204844.
Whitmore, S. S., Braun, T. A., Skeie, J. M., Haas, C. M., Sohn, E. H., Stone, E. M., Scheetz, T. E. & Mullins, R. F. (2013). Altered gene expression in dry age-related macular degeneration suggests early loss of choroidal endothelial cells. Mol Vis, 19, 2274-97. PMID: 24265543.
Wagner, A. H., Anand, N., Wang, W. H., Chatterton, J. E., Sun, D., Shepard, A., Jacobson, N., Pang, I. H., Deluca, A., Casavant, T. L., Scheetz, T. E., Mullins, R., Braun, T. A. & Clark, A. F. (2013). Exon-level expression profiling of ocular tissues. Experimental Eye Research, 111, 105-11. PMID: 23500522.
Abramoff, M. D., Mullins, R. F., Lee, K., Hoffmann, J. M., Sonka, M., Critser, D. B., Stasheff, S. F. & Stone, E. M. (2013). Human Photoreceptor Outer Segments Shorten During Light Adaptation. Invest Ophthalmol Vis Sci, 54(5), 3721-8. PMID: 23633665.
Fernandez de Castro, J. P., Mullins, R. F., Manea, A. M., Hernandez, J., Wallen, T. & Kuehn, M. H. (2013). Lipofuscin in Human Glaucomatous Optic Nerves. Exp Eye Res, 111, 61-6. PMID: 23567206.
Sohn, E. H., Mullins, R. F. & Stone, E. M. (2013). Macular Dystrophies. In S. J. Ryan (Eds.) The Retina. (5), pp. 852-90. London: Saunders Elsevier.
Braun, T. A., Mullins, R. F., Wagner, A. H., Andorf, J. L., Johnston, R. M., Bakall, B. B., Deluca, A. P., Fishman, G. A., Lam, B. L., Weleber, R. G., Cideciyan, A. C., Jacobson, S. G., Sheffield, V. C., Tucker, B. A. & Stone, E. M. (2013). Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. Hum Mol Geent, 22(25), 5136-45. PMID: 23918662.
Tucker, B. A., Mullins, R. F., Streb, L. M., Anfinson, K., Eyestone, M. E., Kaalberg, E., Riker, M. J., Drack, A. V., Braun, T. A. & Stone, E. M. (2013). Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa. eLife, 2, e00824. PMID: 23991284.
Wagner, A. H., Taylor, K. R., Deluca, A. P., Casavant, T. L., Mullins, R. F., Stone, E. M., Scheetz, T. E. & Braun, T. A. (2013). Prioritization of Retinal Disease Genes: An Integrative Approach. Hum Mutat, 34(6), 853-9. PMID: 23508994.
Drack, A. V., Mullins, R. & Seo, S. (2013). Retinitis Pigmentosa Syndromes: Bardet-Biedl Syndrome. In M. E. Hartnett , M. Trese & A. Capone (Eds.) Pediatric Retina. (2), pp. 259-68. Philadelphia, MA: Lippincott.
Christopher, M., Scheetz, T. E., Mullins, R. F. & Abràmoff, M. D. (2013). Selection of phototransduction genes in Homo Sapiens. Invest Ophthalmol Vis Sci, 54(8), 5489-96. PMID: 23868983.
Seo, S., Mullins, R. F., Dumitrescu, A. V., Bhattarai, S., Gratie, D., Wang, K., Stone, E. M., Sheffield, V. & Drack, A. V. (2013). Subretinal gene therapy of mice with Bardet-Biedl syndrome type I. Invest Ophthalmol Vis Sci, 54(9), 6118-32. PMID: 23900607.
Tucker, B. A., Anfinson, K. R., Mullins, R. F., Stone, E. M. & Young, M. J. (2013). Use of a synthetic xeno-free culture substrate for induced pluripotent stem cell induction and retinal differentiation. Stem Cells Translational Medicine, 2(1), 16-24. PMID: 23283489.
Kay, C. N., Abramoff, M. D., Mullins, R. F., Kinnick, T. R., Lee, K., Eyestone, M. E., Chung, M. M., Sohn, E. H. & Stone, E. M. (2012). Three-dimensional Distribution of the Vitelliform Lesion, Photoreceptors, and Retinal Pigment Epithelium in the Macula of Patients With Best Vitelliform Macular Dystrophy. Archives of Ophthalmology, 130(3), 357-364. PMID: 22084158.
Zhang, L., Lee, K., Niemeijer, M., Mullins, R. F., Sonka, M. & Abramoff, M. D. (2012). Automated Segmentation of the Choroid from Clinical SD-OCT. Invest Ophthalmol Vis Sci, 53(12), 7510-7519. PMID: 23060139.
Schweitzer, D., Gaillard, E. R., Dillon, J. S., Mullins, R. F., Russell, S. R., Hoffmann, B., Peters, S., Hammer, M. & Biskup, C. (2012). Time-resolved autofluorescence imaging of human donor retina tissue from donors with significant extramacular drusen. Invest Ophthalmol Vis Sci, 53(7), 3376-86. PMID: 22511622.
Mao, M., Solivan-Timpe, F., Roos, B. R., Mullins, R. F., Oetting, T. A., Kwon, Y. H., Brzeskiewicz, P. M., Stone, E. M., Alward, W. L., Anderson, M. G. & Fingert, J. H. (2012). Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma. Mol Vis, 18, 705-13. PMID: 22509100.
Mullins, R. F., Kuehn, M. H., Radu, R. A., Enriquez, G. S., East, J. S., Schindler, E. I., Travis, G. H. & Stone, E. M. (2012). Autosomal Recessive Retinitis Pigmentosa Due To ABCA4 Mutations: Clinical, Pathologic, and Molecular Characterization. Investigative Ophthalmology and Visual Science, 53(4), 1883-94. PMID: 22395892.
Skeie, J. M., Hernandez, J., Hinek, A. & Mullins, R. F. (2012). Molecular responses of choroidal endothelial cells to elastin derived peptides through the elastin-binding protein (GLB1). Matrix biology : journal of the International Society for Matrix Biology, 31(2), 113-9. PMID: 22178079.
Zeng, S., Hernández, J. & Mullins, R. F. (2012). Effects of antioxidant components of AREDS vitamins and zinc ions on endothelial cell activation: implications for macular degeneration. Investigative ophthalmology & visual science, 53(2), 1041-7. PMID: 22247465.
Mullins, R. F., Sohn, E. H. (2012). Bruch's Membrane, the Critical Barrier in AMD. In G. Ying (Eds.) Age Related Macular Degeneration. InTech Publishing.
Sohn, E. H., Mullins, R. F. & Stone, E. M. (2012). Macular Dystrophies. In S. J. Ryan (Eds.) Retina. (5) Saunders/Elsevier.
Whitmore, S. S., Mullins, R. F. (2012). Transcriptome changes in age-related macular degeneration. BMC medicine, 10, 21. PMID: 22369667.
Mullins, R. F., Dewald, A. D., Streb, L. M., Wang, K., kuehn, M. H. & Stone, E. M. (2011). Elevated Membrane Attack Complex in Human Choroid with High Risk Complement Factor H Genotypes. Experimental Eye Research, 94(4), 565-567. PMID: 21729696.
Tucker, B. A., Scheetz, T. E., Mullins, R. F., DeLuca, A. P., Hoffmann, J. M., Johnston, R. M., Jacobson, S. G., Sheffield, V. C. & Stone, E. M. (2011). Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. Proceedings of the National Academy of Sciences of the United States of America, 108(34), E569-76. PMID: 21825139.
Fingert, J. H., Robin, A. L., Stone, J. L., Roos, B. R., Davis, L. K., Scheetz, T. E., Bennett, S. R., Wassink, T. H., Kwon, Y. H., Alward, W. L., Mullins, R. F., Sheffield, V. C. & Stone, E. M. (2011). Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Human molecular genetics, 20(12), 2482-94. PMID: 21447600.
Kondratowicz, A. S., Lennemann, N. J., Sinn, P. L., Davey, R. A., Hunt, C. L., Moller-Tank, S., Meyerholz, D. K., Rennert, P., Mullins, R. F., Brindley, M., Sandersfeld, L. M., Quinn, K., Weller, M., McCray, Jr, P. B., Chiorini, J. & Maury, W. (2011). T-cell immunoglobulin and mucin domain 1 (TIM-1) is a receptor for Zaire Ebolavirus and Lake Victoria Marburgvirus. Proceedings of the National Academy of Sciences of the United States of America, 108(20), 8426-31. PMID: 21536871.
Ko, A. C., Brinton, J. P., Mahajan, V. B., Zimmerman, B., Brinton, G. S., Stone, E. M., Folk, J. C. & Mullins, R. F. (2011). Seroreactivity against aqueous-soluble and detergent-soluble retinal proteins in posterior uveitis. Archives of ophthalmology, 129(4), 415-20. PMID: 21482867.
Kinnick, T. R., Mullins, R. F., Dev, S., Leys, M., Mackey, D. A., Kay, C. N., Lam, B. L., Fishman, G. A., Traboulsi, E., Lezzi, R. & Stone, E. M. (2011). Autosomal Recessive Vitelliform Macular Dystrophy in a Large Cohort of Vitelliform Macular Dystrophy Patients. Retina, 31(3), 581-595. PMID: 21273940.
Mullins, R. F., Johnson, M. N., Faidley, E. A., Skeie, J. M. & Huang, J. (2011). Choriocapillaris vascular dropout related to density of drusen in human eyes with early age-related macular degeneration. Investigative ophthalmology & visual science, 52(3), 1606-12. PMID: 21398287.
Kuehn, M. H., Wang, K., Roos, B., Stone, E. M., Kwon, Y. H., Alward, W. L., Mullins, R. F. & Fingert, J. H. (2011). Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort. Molecular Vision, 17, 430-5. PMID: 21321670.
Thompson, S., Stasheff, S. F., Hernandez, J., Nylen, E., East, J. S., Kardon, R. H., Pinto, L. H., Mullins, R. F. & Stone, E. M. (2011). Different inner retinal pathways mediate rod-cone input in irradiance detection for the pupillary light reflex and regulation of behavioral state in mice. Invest Ophthalmol Vis Sci, 52(1), 618-623.
Skeie, J. M., Zeng, S., Faidley, E. A. & Mullins, R. F. (2011). Angiogenin in age-related macular degeneration. Molecular vision, 17, 576-82. PMID: 21364907.
Mullins, R. F., Skeie, J. M., Folk, J. C., Solivan-Timpe, F. M., Oetting, T. A., Huang, J., Wang, K., Stone, E. M. & Fingert, J. H. (2011). Evaluation of variants in the selectin genes in age-related macular degeneration. BMC medical genetics, 12, 58. PMID: 21521525.
Stone, E. M., Cideciyan, A. V., Aleman, T. S., Scheetz, T. E., Sumaroka, A., Ehlinger, M. A., Schwartz, S. B., Fishman, G. A., Traboulsi, E. I., Lam, B. L., Fulton, A. B., Mullins, R. F., Sheffield, V. C. & Jacobson, S. G. (2011). Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Archives of ophthalmology, 129(1), 81-7. PMID: 21220633.
Ko, A. C., Hern??ndez, J., Brinton, J. P., Faidley, E. A., Mugge, S. A., Mets, M. B., Kardon, R. H., Folk, J. C., Mullins, R. F. & Stone, E. M. (2010). Anti-gamma-enolase autoimmune retinopathy manifesting in early childhood. Archives of ophthalmology, 128(12), 1590-5. PMID: 21149784.
Skeie, J. M., Fingert, J. H., Russell, S. R., Stone, E. M. & Mullins, R. F. (2010). Complement component C5a activates ICAM-1 expression on human choroidal endothelial cells. Investigative ophthalmology & visual science, 51(10), 5336-42. PMID: 20484595.
Pretorius, P. R., Baye, L. M., Nishimura, D. Y., Searby, C. C., Bugge, K., Yang, B., Mullins, R. F., Stone, E. M., Sheffield, V. C. & Slusarski, D. C. (2010). Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform. PLoS genetics, 6(3), e1000884. PMID: 20333246.
Mullins, R. F., Skeie, J. M. (2010). Essentials of Retinal Morphology. In I. Pang , A. F. Clark (Eds.) Animal Models for Retinal Diseases. Humana Press.
Mahajan, V. B., Vallone, J. G., Lin, J. H., Mullins, R. F., Ko, A. C., Folk, J. C. & Stone, E. M. (2010). T-cell infiltration in autosomal dominant neovascular inflammatory vitreoretinopathy. Molecular vision, 16, 1034-40. PMID: 20596252.
Mullins, R. F., Faidley, E. A., Daggett, H. T., Jomary, C., Lotery, A. J. & Stone, E. M. (2009). Localization of complement 1 inhibitor (C1INH/SERPING1) in human eyes with age-related macular degeneration. Experimental eye research, 89(5), 767-73. PMID: 19607829.
Satz, J. S., Philp, A. R., Nguyen, H., Kusano, H., Lee, J., Turk, R., Riker, M. J., Hern??ndez, J., Weiss, R. M., Anderson, M. G., Mullins, R. F., Moore, S. A., Stone, E. M. & Campbell, K. P. (2009). Visual impairment in the absence of dystroglycan. The Journal of neuroscience : the official journal of the Society for Neuroscience, 29(42), 13136-46. PMID: 19846701.
Philp, A. R., Jin, M., Li, S., Schindler, E. I., Iannaccone, A., Lam, B. L., Weleber, R. G., Fishman, G. A., Jacobson, S. G., Mullins, R. F., Travis, G. H. & Stone, E. M. (2009). Predicting the pathogenicity of RPE65 mutations. Human mutation, 30(8), 1183-8. PMID: 19431183.
Skeie, J. M., Mullins, R. F. (2009). Macrophages in Neovascular Age-Related Macular Degeration: Friends or Foes?. Eye, 23(4), 747-55.
Skeie, J. M., Mullins, R. F. (2008). Elastin-mediated choroidal endothelial cell migration: possible role in age-related macular degeneration. Investigative ophthalmology & visual science, 49(12), 5574-80. PMID: 18708613.
Ennis, S., Jomary, C., Mullins, R., Cree, A., Chen, X., Macleod, A., Jones, S., Collins, A., Stone, E. & Lotery, A. (2008). Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study. Lancet, 372(9652), 1828-34. PMID: 18842294.
Thompson, S., Mullins, R. F., Philp, A. R., Stone, E. M. & Mrosovsky, N. (2008). Divergent phenotypes of vision and accessory visual function in mice with visual cycle dysfunction (Rpe65 rd12) or retinal degeneration (rd/rd). Investigative ophthalmology & visual science, 49(6), 2737-42. PMID: 18515598.
Jones, Y. J., Goins, K. M., Sutphin, J. E., Mullins, R. & Skeie, J. M. (2008). Comparison of the femtosecond laser (IntraLase) versus manual microkeratome (Moria ALTK) in dissection of the donor in endothelial keratoplasty: initial study in eye bank eyes. Cornea, 27(1), 88-93. PMID: 18245973.
Davis, R. E., Swiderski, R. E., Rahmouni, K., Nishimura, D. Y., Mullins, R. F., Agassandian, K., Philp, A. R., Searby, C. C., Andrews, M. P., Thompson, S., Berry, C. J., Thedens, D. R., Yang, B., Weiss, R. M., Cassell, M. D., Stone, E. M. & Sheffield, V. C. (2007). A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proceedings of the National Academy of Sciences of the United States of America, 104(49), 19422-7. PMID: 18032602.
Mullins, R. F., Kuehn, M. H., Faidley, E. A., Syed, N. A. & Stone, E. M. (2007). Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease. Investigative ophthalmology & visual science, 48(7), 3372-80. PMID: 17591911.
Bakall, B., Radu, R. A., Stanton, J. B., Burke, J. M., McKay, B. S., Wadelius, C., Mullins, R. F., Stone, E. M., Travis, G. H. & Marmorstein, A. D. (2007). Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2). Experimental eye research, 85(1), 34-43. PMID: 17477921.
Swiderski, R. E., Nishimura, D. Y., Mullins, R. F., Olvera, M. A., Ross, J. L., Huang, J., Stone, E. M. & Sheffield, V. C. (2007). Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage. Investigative ophthalmology & visual science, 48(7), 3329-40. PMID: 17591906.
Guziewicz, K. E., Zangerl, B., Lindauer, S. J., Mullins, R. F., Sandmeyer, L. S., Grahn, B. H., Stone, E. M., Acland, G. M. & Aguirre, G. D. (2007). Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Investigative ophthalmology & visual science, 48(5), 1959-67. PMID: 17460247.
Mullins, R. F., Olvera, M. A., Clark, A. F. & Stone, E. M. (2007). Fibulin-5 distribution in human eyes: relevance to age-related macular degeneration. Experimental eye research, 84(2), 378-80. PMID: 17109857.
Hageman, G. H., Mullins, R. F. (2007). Association of Major Histocompatibility Class II Antigens with Core Subdomains Present Within Human Ocular Drusen. In M. Zierhut , H. Rammensee , W. J. Streilein (Eds.) Antigen-Presenting Cells and the Eye. pp. 209-216. Taylor & Francis Medical Books.
Clapper, J. D., Skeie, J. M., Mullins, R. F. & Guymon, C. A. (2007). Development and characterization of photopolymerizable biodegradable materials from PEG-PLA-PEG block macromonomers. Polymer, 48, 6554-64.
Pinto, L. H., Vitaterna, M. H., Shimomura, K., Siepka, S. M., Balannik, V., McDearmon, E. L., Omura, C., Lumayag, S., Invergo, B. M., Glawe, B., Cantrell, D. R., Inayat, S., Olvera, M. A., Vessey, K. A., McCall, M. A., Maddox, D., Morgans, C. W., Young, B., Pletcher, M. T., Mullins, R. F., Troy, J. B. & Takahashi, J. S. (2007). Generation, characterization and molecular cloning of the nob4 mutation of the mGluR6 receptor in the mouse. Visual neuroscience, 24(1), 111-23. PMID: 17430614.
Mullins, R. F. (2007). Genetic Insights into the Pathobiology of Age-Related Macular Degeneration. International Ophthalmology Clinics, 47, 1-14. PMID: 17237671.
Ismail, A. R., Cate, C. A., Mullins, R. F., Manners, R. M. & Lotery, A. J. (2007). Novel description of autosomal dominant early onset aponeurotic ptosis and corneal limbal vascularization in a three generation family. Ophthalmic Plastic and Reconstructive Surgery, 23, 484-486. PMID: 18030124.
Zangerl, B., Goldstein, O., Philp, A. R., Lindauer, S. J., Pearce-Kelling, S. E., Mullins, R. F., Graphodatsky, A. S., Ripoll, D., Felix, J. S., Stone, E. M., Acland, G. M. & Aguirre, G. D. (2006). Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics, 88(5), 551-63. PMID: 16938425.
Grassi, M. A., Fingert, J. H., Scheetz, T. E., Roos, B. R., Ritch, R., West, S. K., Kawase, K., Shire, A. M., Mullins, R. F. & Stone, E. M. (2006). Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His. Human mutation, 27(9), 921-5. PMID: 16865697.
Yen, H. J., Tayeh, M. K., Mullins, R. F., Stone, E. M., Sheffield, V. C. & Slusarski, D. C. (2006). Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Human molecular genetics, 15(5), 667-77. PMID: 16399798.
Mullins, R. F., Skeie, J. M., Malone, E. A. & Kuehn, M. H. (2006). Macular and peripheral distribution of ICAM-1 in the human choriocapillaris and retina. Molecular vision, 12, 224-35. PMID: 16604055.
Mullins, R. F., Oh, K. T., Heffron, E., Hageman, G. S. & Stone, E. M. (2005). Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation. Archives of ophthalmology, 123(11), 1588-94. PMID: 16286623.
Pinto, L. H., Vitaterna, M. H., Shimomura, K., Siepka, S. M., McDearmon, E. L., Fenner, D., Lumayag, S. L., Omura, C., Andrews, A. W., Baker, M., Invergo, B. M., Olvera, M. A., Heffron, E., Mullins, R. F., Sheffield, V. C., Stone, E. M. & Takahashi, J. S. (2005). Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse. Visual neuroscience, 22(5), 619-29. PMID: 16332273.
Mullins, R. F., Grassi, M. A. & Skeie, J. M. (2005). Glycoconjugates of choroidal neovascular membranes in age-related macular degeneration. Molecular vision, 11, 509-17. PMID: 16052166.
Goverdhan, S. V., Howell, M. W., Mullins, R. F., Osmond, C., Hodgkins, P. R., Self, J., Avery, K. & Lotery, A. J. (2005). Association of HLA class I and class II polymorphisms with age-related macular degeneration. Investigative ophthalmology & visual science, 46(5), 1726-34. PMID: 15851575.
Fath, M. A., Mullins, R. F., Searby, C., Nishimura, D. Y., Wei, J., Rahmouni, K., Davis, R. E., Tayeh, M. K., Andrews, M., Yang, B., Sigmund, C. D., Stone, E. M. & Sheffield, V. C. (2005). Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Human molecular genetics, 14(9), 1109-18. PMID: 15772095.
Chong, N. H., Keonin, J., Luthert, P. J., Frennesson, C. I., Weingeist, D. M., Wolf, R. L., Mullins, R. F. & Hageman, G. S. (2005). Decreased thickness and integrity of the macular elastic layer of Bruch's membrane correspond to the distribution of lesions associated with age-related macular degeneration. The American journal of pathology, 166(1), 241-51. PMID: 15632016.
Pinto, L. H., Vitaterna, M. H., Siepka, S. M., Shimomura, K., Lumayag, S., Baker, M., Fenner, D., Mullins, R. F., Sheffield, V. C., Stone, E. M., Heffron, E. & Takahashi, J. S. (2004). Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus. Vision research, 44(28), 3335-45. PMID: 15536001.
Nishimura, D. Y., Fath, M., Mullins, R. F., Searby, C., Andrews, M., Davis, R., Andorf, J. L., Mykytyn, K., Swiderski, R. E., Yang, B., Carmi, R., Stone, E. M. & Sheffield, V. C. (2004). Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proceedings of the National Academy of Sciences of the United States of America, 101(47), 16588-93. PMID: 15539463.
Mykytyn, K., Mullins, R. F., Andrews, M., Chiang, A. P., Swiderski, R. E., Yang, B., Braun, T., Casavant, T., Stone, E. M. & Sheffield, V. C. (2004). Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proceedings of the National Academy of Sciences of the United States of America, 101(23), 8664-9. PMID: 15173597.
Russell, S. R., Gupta, R. R., Folk, J. C., Mullins, R. F. & Hageman, G. S. (2004). Comparison of color to fluorescein angiographic images from patients with early-adult onset grouped drusen suggests drusen substructure. American journal of ophthalmology, 137(5), 924-30. PMID: 15126159.
Mullins, R. F. (2004). New Insights into Animal Models for Blinding Diseases. Currents in Medicine and Health Care, 5, 15-16.
Lotery, A. J., Yang, G. S., Mullins, R. F., Russell, S. R., Schmidt, M., Stone, E. M., Lindbloom, J. D., Chiorini, J. A., Kotin, R. M. & Davidson, B. L. (2003). Adeno-associated virus type 5: transduction efficiency and cell-type specificity in the primate retina. Human gene therapy, 14(17), 1663-71. PMID: 14633408.
Anderson, D. H., Mullins, R. F., Hageman, G. S. & Johnson, L. V. (2002). A role for local inflammation in the formation of drusen in the aging eye. American journal of ophthalmology, 134(3), 411-31. PMID: 12208254.
Lotery, A. J., Derksen, T. A., Russell, S. R., Mullins, R. F., Sauter, S., Affatigato, L. M., Stone, E. M. & Davidson, B. L. (2002). Gene transfer to the nonhuman primate retina with recombinant feline immunodeficiency virus vectors. Human gene therapy, 13(6), 689-96. PMID: 11936968.
Alagramam, K. N., Yuan, H., Kuehn, M. H., Murcia, C. L., Wayne, S., Srisailpathy, C. R., Lowry, R. B., Knaus, R., Van Laer, L., Bernier, F. P., Schwartz, S., Lee, C., Morton, C. C., Mullins, R. F., Ramesh, A., Van Camp, G., Hageman, G. S., Woychik, R. P., Smith, R. J. & Hagemen, G. S. (2001). Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Human molecular genetics, 10(16), 1709-18. PMID: 11487575.
Anderson, D. H., Ozaki, S., Nealon, M., Neitz, J., Mullins, R. F., Hageman, G. S. & Johnson, L. V. (2001). Local cellular sources of apolipoprotein E in the human retina and retinal pigmented epithelium: implications for the process of drusen formation. American journal of ophthalmology, 131(6), 767-81. PMID: 11384575.
Mullins, R. F., Aptsiauri, N. & Hageman, G. S. (2001). Structure and composition of drusen associated with glomerulonephritis: implications for the role of complement activation in drusen biogenesis. Eye (London, England), 15(Pt 3), 390-5. PMID: 11450763.
Clark, A. F., Kawase, K., English-Wright, S., Lane, D., Steely, H. T., Yamamoto, T., Kitazawa, Y., Kwon, Y. H., Fingert, J. H., Swiderski, R. E., Mullins, R. F., Hageman, G. S., Alward, W. L., Sheffield, V. C. & Stone, E. M. (2001). Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head. FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 15(7), 1251-3. PMID: 11344104.
Jacobson, N., Andrews, M., Shepard, A. R., Nishimura, D., Searby, C., Fingert, J. H., Hageman, G. S., Mullins, R. F., Davidson, B. L., Kwon, Y. K., Alward, W. L., Stone, E. M., Clark, A. F. & Sheffield, V. C. (2001). Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Human Molecular Genetics, 10, 117-25. PMID: 11152659.
Hageman, G. S., Luthert, P. J., Chong, N. V., Johnson, L. V., Anderson, D. H. & Mullins, R. F. (2001). An Integrated Hypothesis that Considers Drusen as Biomarkers of Immune-Mediated Processes at the RPE=Bruch's Membrane Interface in Aging and Age-Related Macular Degeneration. Progress in Retinal and Eye Research, 20(6), 705-732.
Jacobson, N., Andrews, M., Shepard, A. R., Nishimura, D., Searby, C., Fingert, J. H., Hageman, G., Mullins, R., Davidson, B. L., Kwon, Y. H., Alward, W. L., Stone, E. M., Clark, A. F. & Sheffield, V. C. (2001). Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Human molecular genetics, 10(2), 117-25. PMID: 11152659.
Mullins, R. F., Russell, S. R., Anderson, D. H. & Hageman, G. S. (2000). Drusen associated with aging and age-related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amyloidosis, and dense deposit disease. FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 14(7), 835-46. PMID: 10783137.
Russell, S. R., Mullins, R. F., Schneider, B. L. & Hageman, G. S. (2000). Location, substructure, and composition of basal laminar drusen compared with drusen associated with aging and age-related macular degeneration. American Journal of Ophthalmology, 129(2), 205-14. PMID: 10682974.
Mullins, R. F., Hageman, G. S. (1999). Human ocular drusen possess novel core domains with a distinct carbohydrate composition. The journal of histochemistry and cytochemistry, 47(12), 1533-40. PMID: 10567437.
Anderson, D. H., Hageman, G. S., Mullins, R. F., Neitz, M., Neitz, J., Ozaki, S., Preissner, K. T. & Johnson, L. V. (1999). Vitronectin gene expression in the adult human retina. Investigative ophthalmology & visual science, 40(13), 3305-15. PMID: 10586957.
Hageman, G. S., Mullins, R. F. (1999). Molecular composition of drusen as related to substructural phenotype. Molecular vision, 5, 28. PMID: 10562652.
Ozaki, S., Johnson, L. V., Mullins, R. F., Hageman, G. S. & Anderson, D. H. (1999). The human retina and retinal pigment epithelium are abundant sources of vitronectin mRNA. Biochemical and biophysical research communications, 258(3), 524-9. PMID: 10329419.
Hageman, G. S., Mullins, R. F., Russell, S. R., Johnson, L. V. & Anderson, D. H. (1999). Vitronectin is a constituent of ocular drusen and the vitronectin gene is expressed in human retinal pigmented epithelial cells. FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 13(3), 477-84. PMID: 10064614.
(1998). Characterization of human ocular drusen: Structural, compositional and developmental analyses.
Mullins, R. F., Johnson, L. V., Anderson, D. H. & Hageman, G. S. (1997). Characterization of drusen-associated glycoconjugates. Ophthalmology, 104(2), 288-94. PMID: 9052634.
Mullins, R. F., Hageman, G. S. (1997). Histochemical Comparison of Ocular "Drusen" in Monkey and Human. In M. LaVail , J. G. Hollyfield , R. E. Anderson (Eds.) Degenerative Retinal Diseases. pp. 1-10. Plenum Press.
Mullins, R. F., Still, J. M., Savage, J., Davis, J. B. & Law, E. J. (1993). Osteomyelitis of the spine in a burn patient due to Candida albicans. Burns, 19(2), 174-6. PMID: 8471156.