Edwin M. Stone, MD, PhD

Portrait
Seamans-Hauser Chair in Molecular Ophthalmology
Director, Molecular Ophthalmology Laboratory
Director, Carver Family Center for Macular Degeneration
Director, Carver Nonprofit Genetic Testing Laboratory
Director, Institute for Vision Research
Professor of Ophthalmology and Visual Sciences

Contact Information

Primary Office: 4111 MERF
Iowa City, IA 52242
319-256-2429

Education

BA, Biology and English, Rice University
PhD, Cell Biology, Baylor College of Medicine
MD, Baylor College of Medicine

Internship, Transitional, St. Joseph Hospital, Houston
Fellow, Associate, Ophthalmology, The University of Iowa
Resident, Ophthalmology, The University of Iowa
Fellow, Ophthalmology Research, The University of Iowa
Fellow, Vitreoretinal Surgery, The University of Iowa

Licensure and Certifications

ABO Certification - American Board of Ophthalmology

Education/Training Program Affiliations

Interdisciplinary Graduate Program in Genetics, Interdisciplinary Graduate Program in Informatics, Interdisciplinary Graduate Program in Neuroscience, Interdisciplinary Graduate Program in Translational Biomedicine, Medical Scientist Training Program

Center, Program and Institute Affiliations

Carver Family Center for Macular Degeneration, Institute for Vision Research, John and Marcia Carver Nonprofit Genetic Testing Laboratory

Research Summary

My research seeks to understand how small variations in the genes of human beings can result in large variations in their vision. I am especially interested in finding and characterizing genes that are involved in three classes of human eye disease: macular degeneration, glaucoma, and heritable photoreceptor degeneration. I am also very interested in strategies for bringing new genetic discoveries to the clinic as rapidly as possible and in so doing I have been very active in removing the technical, legal and financial barriers between genetic discoveries and the patients who could benefit from them by creating a nonprofit genetic testing laboratory that provides low cost clinical genetic tests for more than 20 different inherited eye diseases on an international scale. I am a fellowship-trained vitreoretinal surgeon with a special interest in hereditary diseases of the retina. I am the director of the Institute for Vision Research which includes 26 faculty and 125 staff. I and my collaborators at the University of Iowa, have mapped and/or cloned dozens of human disease genes including: three glaucoma genes (MYOC, FOXC1, and familial cavitary optic disk anomaly), five genes for macular disease (Best disease, pattern dystrophy, Stargardt-like dominant macular dystrophy, malattia Leventinese, and fibulin-5-associated age-related macular degeneration), dominant stromal corneal dystrophy, Wagner disease, erosive vitreoretinopathy, the enhanced S cone syndrome, and achromatopsia. I have collected over 50,000 DNA samples from patients with various inherited eye diseases and have developed high-throughput methods for screening these patients for disease-causing mutations in candidate genes.

Publications

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.

Schnieders, M. J., Goar, W., Griess, M., Roos, B. R., Scheetz, T. E., Stone, E. M. & Fingert, J. H. (2018). A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree. Eye (London, England), 32(4), 843-845. PMID: 29350691.

Song, H., Rossi, E. A., Stone, E., Latchney, L., Williams, D., Dubra, A. & Chung, M. (2018). Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging. The British journal of ophthalmology, 102(1), 136-141. PMID: 29074494.

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.

Stunkel, M. L., Brodie, S. E., Cideciyan, A. V., Pfeifer, W. L., Kennedy, E. L., Stone, E. M., Jacobson, S. G. & Drack, A. V. (2018). Expanded retinal disease spectrum associated with autosomal recessive mutations in GUCY2D. American journal of ophthalmology, 190, 58-68. PMID: 29559409.

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.

Weihbrecht, K., Goar, W. A., Pak, T., Garrison, J. E., DeLuca, A. P., Stone, E. M., Scheetz, T. E. & Sheffield, V. C. (2017). Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye. Medical research archives, 5(9). PMID: 29457131.

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. Current protocols in stem cell biology, 42, 4A.12.1-4A.12.14. PMID: 28806854.

Lewis, C. J., Hedberg-Buenz, A., DeLuca, A. P., Stone, E. M., Alward WLM, & Fingert, J. H. (2017). Primary congenital and developmental glaucomas. Human molecular genetics, 26(R1), R28-R36. PMID: 28549150.

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.

Tompson, S. W., Johnson, C., Abbott, D., Bakall, B., Soler, V., Yanovitch, T. L., Whisenhunt, K. N., Klemm, T., Rozen, S., Stone, E. M., Johnson, M. & Young, T. L. (2017). Reduced penetrance in a large Caucasian pedigree with Stickler syndrome. Ophthalmic genetics, 38(1), 43-50. PMID: 28095098.

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.

Sohn, E. H., Mullins, R. F. & Stone, E. M. (2017). Macular Dystrophies. In A. P. Schachat , et al (Eds.) Ryan’s Retina. (6th), pp. 953-996. Edinburgh: Elsevier.

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.

Jacobson, S. G., Cideciyan, A. V., Sumaroka, A., Roman, A. J., Charng, J., Lu, M., Choi, W., Sheplock, R., Swider, M., Kosyk, M. S., Schwartz, S. B., Stone, E. M. & Fishman, G. A. (2017). Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene. Investigative ophthalmology & visual science, 58(5), 2609-2622. PMID: 28510626.

McGuigan, D. B., Heon, E., Cideciyan, A. V., Ratnapriya, R., Lu, M., Sumaroka, A., Roman, A. J., Batmanabane, V., Garafalo, A. V., Stone, E. M., Swaroop, A. & Jacobson, S. G. (2017). EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression. Genes, 8(7), doi: 10.3390/genes8070178. PMID: 28704921.

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.

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, 55, 385-395. PMID: 28351682.

Chung, D. D., Frausto, R. F., Cervantes, A. E., Gee, K. M., Zakharevich, M., Hanser, E. M., Stone, E. M., Heon, E. & Aldave, A. J. (2017). Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1. PloS one, 12(1), e0169215. PMID: 28046031.

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. PMID: 28559085.

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. Molecular therapy, 25(9), 1999-2013. PMID: 28619647.

DeLuca, A. P., Alward WLM,, Liebmann, J., Ritch, R., Kawase, K., Kwon, Y. H., Robin, A. L., Stone, E. M., Scheetz, T. E. & Fingert, J. H. (2017). Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients. Journal of glaucoma, 26(12), 1063-1067. PMID: 28984711.

Russell, S., Bennett, J., Wellman, J. A., Chung, D. C., Yu, Z. F., Tillman, A., Wittes, J., Pappas, J., Elci, O., McCague, S., Cross, D., Marshall, K. A., Walshire, J., Kehoe, T. L., Reichert, H., Davis, M., Raffini, L., George, L. A., Hudson, F. P., Dingfield, L., Zhu, X., Haller, J. A., Sohn, E. H., Mahajan, V. B., Pfeifer, W., Weckmann, M., Johnson, C., Gewaily, D., Drack, A., Stone, E., Wachtel, K., Simonelli, F., Leroy, B. P., Wright, J. F., High, K. A. & Maguire, A. M. (2017). Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. Lancet (London, England), 390(10097), 849-860. PMID: 28712537.

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.

McAnany, J. J., Park, J. C., Collison, F. T., Fishman, G. A. & Stone, E. M. (2016). Abnormal 8-Hz flicker electroretinograms in carriers of X-linked retinoschisis. Documenta ophthalmologica, 133(1), 61-70. PMID: 27369766.

Kucukevcilioglu, M., Patel, C. B., Stone, E. M. & Russell, S. R. (2016). Clinically detectable drusen domains in fibulin-5-associated age-related macular degeneration (AMD) : Drusen subdomains in fibulin-5 AMD. International ophthalmology, 36(4), 569-575. PMID: 26694911.

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.

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.

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. (2016). 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, 27(10), 835-846. PMID: 27400765.

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 translational medicine, 5(2), 132-140. 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. Human Molecular Genetics, 25(1), 44-56. PMID: 26494905.

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.

Braverman, N. E., Raymond, G. V., Rizzo, W. B., Moser, A. B., Wilkinson, M. E., Stone, E. M., Steinberg, S. J., Wangler, M. F., Rush, E. T., Hacia, J. G. & Bose, M. (2016). Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab, 117(3), 313-21. PMID: 26750748.

Shankar, S. P., Hughbanks-Wheaton, D. K., Birch, D. G., Sullivan, L. S., Conneely, K. N., Bowne, S. J., Stone, E. M. & Daiger, S. P. (2016). Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. Investigative ophthalmology & visual science, 57(2), 349-59. PMID: 26842753.

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, 393-397. PMID: 26368849.

Weed, M. C., Almeida, D. R., Chin, E. K. & Stone, E. M. (2016). Distinguishing optic pathway glioma and retinitis pigmentosa with visual field testing. (Vols. 51). (3), pp. e94-6. Canadian journal of ophthalmology. PMID: 27316291.

Collison, F. T., Park, J. C., Fishman, G. A., Stone, E. M. & McAnany, J. J. (2016). Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations. Documenta ophthalmologica, 132(3), 157-66. PMID: 27033713.

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.

Huckfeldt, R. M., East, J. S., Stone, E. M. & Sohn, E. H. (2016). Phenotypic Variation in a Family With Pseudodominant Stargardt Disease. JAMA ophthalmology, 134(5), 580-583. PMID: 27030965.

Scheetz, T. E., Roos, B. R., Solivan-Timpe, F., Miller, K., DeLuca, A. P., Stone, E. M., Kwon, Y. H., Alward, W. L., Wang, K. & Fingert, J. H. (2016). SQSTM1 Mutations and Glaucoma. PloS one, 11(6), e0156001. PMID: 27275741.

Tucker, B. A., Cranston, C., Anfinson, K. A., Shrestha, S., Streb, L. M., Leon, A., Mullins, R. F. & Stone, E. M. (2015). Using patient-specific iPSCs 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. Translational Research, 166(6), 740-749. PMID: 26364624.

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. Progress in Retinal and Eye Research, 45, 1-29. PMID: 25486088.

Shankar, S. P., Birch, D. G., Ruiz, R. S., Hughbanks-Wheaton, D. K., Sullivan, L. S., Bowne, J. S., Stone, E. M. & Daiger, S. P. (2015). Founder effect of a c.828+3A> splice site mutation in Peripherin 2 (PRPH2) causing autosomal dominant retinal dystrophies. JAMA Ophthalmology, 133(5), 511-7. PMID: 25675413.

Tzu, J. H., Arguello, T., Berrocal, A. M., Berrocal, M., Weisman, A. D., Liu, M., Hess, D., Caputo, M., Goldberg, J. L., Feuer, W. J., Stone, E. M. & Lam, B. L. (2015). Clinical and Electrophysiologic Characteristics of a Large Kindred with X-linked Retinitis Pigmentosa Associated with the RPGR Locus. Ophthalmic Genet, 36(4), 321-326. PMID: 24555744.

Mears, K., Bakall, B., Harney, L. A., Penticoff, J. A. & Stone, E. M. (2015). Autosomal dominant microcephaly associated with congenital lymphedema and chorioretinopathy due to a novel mutation in KIF11. JAMA Ophthalmology, 133(6), 720-721. PMID: 25764055.

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. Scientific Reports, 5, 11791. PMID: 26138532.

DeLuca, A. P., Weed, M. C., Haas, C. M., Halder, J. A. & Stone, E. M. (2015). Apparent Usher syndrome caused by the combination of BBS1-associated retinitis pigmentosa and SLC26A4-associated deafness. JAMA ophthalmology, 133(8), 967-968. PMID: 262022370.

Collison, F. T., Park, J. C., Fishman, G. A., McAnany, J. J. & Stone, E. M. (2015). Full-field pupillary light responses, luminance thresholds, and light discomfort thresholds in CEP290 Leber congenital amaurosis patients. Investigative Ophthalmology and Visual Science, 56(12), 7130-6. PMID: 26529047.

Stone, E. M. (2015). Genetic testing for age-related macular degeneration: not indicated now. JAMA Ophthalmology, 133(5), 598-600. PMID: 25789813.

Cideciyan, A. V., Swider, M., Schwartz, S. B., Stone, E. M. & Jacobson, S. G. (2015). Predicting progression of ABCA4-associated retinal degenerations based on longitudinal measurements of the leading disease front. Investigative Ophthalmology and Visual Science, 56(10), 5946-55. PMID: 26377081.

Zhang, N., Tsybovsky, Y., Kolesnikov, A. V., Rozanowska, M., Swider, M., Schartz, S. B., Stone, E. M., Palczewska, G., Maeda, A., Kefalov, V. J., Jacobson, S. G., Cideciyan, A. V. & Palczewski, K. (2015). Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations. Human Molecular Genetics, 24(11), 3220-37. PMID: 25712131.

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. Progress in Retinal and Eye Research, 44, 15-35. PMID: 25448922.

Khorram, D., Choi, M., Roos, B. R., Stone, E. M., Kopel, T., Allen, R., Alward, W. L., Scheetz, T. E. & Fingert, J. H. (2015). Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos. Molecular Vision,(21), 1017-23. PMID: 26392740.

Bax, N. M., Sangermano, R., Roosing, S., Thiadens, A. A., Hoefsloot, L. H., den Born, L. I., Phan, M., Kievering, B. J., van Haaften, C. W., Braun, T. A., Zonneveld-Vrieling, M. N., de Wijs, I., Mutlu, M., Stone, E. M., den Hollander, A. I., Klaver, C. C., Hoyng, C. B. & Cremers, F. P. (2015). Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant. Human Mutation, 36(1), 43-47. PMID: 25363634.

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. Human Mutation, 36(3), 369-378. PMID: 25581579.

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.

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), R1-R16. PMID: 24647603.

Huang, W. C., Cideciyan, A. V., Roman, A. J., Sumaroka, A., Sheplock, R., Schwartz, S. B., Stone, E. M. & Jacobson, S. G. (2014). Inner and Outer Retinal Changes in Retinal Degenerations Associated With ABCA4 Mutations. Invest Ophthalmol Vis Sci, 55(3), 1810-22. PMID: 24550365.

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.

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 Harbor Perspectives in Medicine, 5(5), a017160. PMID: 25502747.

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.

Zhang, Y., Seo, S., Bhattarai, S., Bugge, K., Searby, C. C., Zhang, Q., Drack, A. V., Stone, E. M. & Sheffield, V. C. (2014). BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Hum Mol Genet, 23(1), 40-51. PMID: 23943788.

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.

Collison, F. T., Genead, M. A., Fishman, G. A. & Stone, E. M. (2014). Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide. Ophthalmic Genet, 35(2), 125-7. PMID: 23514609.

Boye, S. E., Huang, W. C., Roman, A. J., Sumaroka, A., Boye, S. L., Ryals, R. C., Olivares, M. B., Ruan, Q., Tucker, B. A., Stone, E. M., Swaroop, A., Cideciyan, A. V., Hauswirth, W. W. & Jacobson, S. G. (2014). Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to CEP290 Mutation: Determining the Timing and Expectation of Therapy. PLoS One, 9(3), e92928. PMID: 24671090.

Brownstein, C. A., 64 intervening authors, Stone, E. M. & et al (2014). An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biology, 15(3), R53. PMID: 24667040.

Kim, M. J., Frausto, R. F., Rosenwasser, G. O., Bui, T., Le, D. J., Stone, E. M. & Aldave, A. J. (2014). Posterior Amorphous Corneal Dystrophy Is Associated with a Deletion of Small Leucine-rich Proteoglycans on Chromosome 12. PLoS One, 9(4), e95037. PMID: 24759697.

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.

Sohn, E. H., Wang, K., Thompson, S., Riker, M. J., Hoffmann, J. M., Stone, E. M. & Mullins, R. F. (2014). Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration. Retina, 35(1), 48-57.

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. (2014). Comparison of retinal and choriocpalilaris thicknesses following sitting to supine transition in healthy individuals and patients with age-related macular degeneration. JAMA ophthalmology, 133(3), 297-303. PMID: 25521616.

Burnight, E. R., Wiley, L. A., Mullins, R. F., Stone, E. M. & Tucker, B. A. (2014). Gene therapy using stem cells. Cold Spring Harbor Perspectives in Medicine, 5(4), a017434. PMID: 25395375.

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.

Abramoff, M. D., Mullins, R. F. & Stone, E. M. (2014). Outer segment length in different best disease genotypes. JAMA ophthalmology, 132(9), 1152-1153. PMID: 25210991.

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 attach complex in aging human choriocapillaris: relationship to macular dgeneration and choroidal thinning. American Journal of Pathology, 184(11), 3142-3153. PMID: 25204844.

Chun, R., Fishman, G. A., Collison, F. T., Stone, E. M., Zernant, J. & Allikmets, R. (2014). The value of retinal imaging with infrared scanning laser ophthalmoscopy in patients with stargardt disease. Retina, 34(7), 1391-99. PMID: 24317291.

Whitmore, S. S., Wagner, A. H., DeLuca, A. P., Drack, A. V., Stone, E. M., Tucker, B. A., Zeng, 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. Experimental Eye Research, 129, 93-106. PMID: 25446321.

Jacobson, S. G., Cideciyan, A. V., Huang, W. C., Sumaroka, A., Roman, A. J., Schwartz, S. B., Lou, X., Sheplock, R., Dauber, J. M., Swider, M. & Stone, E. M. (2014). TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones. Investigative Ophthalmology and Visual Science, 55(8), 5354-5364. PMID: 25074776.

Fujinami, K., Lois, N., Davidson, A. E., Mackay, D. S., Hogg, C. R., Stone, E. M., Tsunoda, K., Tsubota, K., Bunce, C., Robson, A. G., Moore, A. T., Webster, A. R., Holder, G. E. & Michaelides, M. (2013). A longitudinal study of Stardardt disease: clinical and electrophysiological assessment, progression, and genotype correlations. American Journal of Ophthalmology, 155(6), 1075-1088. PMID: 23499370.

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 degeration suggests early loss of choroidal endothelial cells. Mol Vis, 19, 2274-97. PMID: 24265543.

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. Investigative Ophthalmology and Visual Science, 54(5), 3721-3728. PMID: 23633665.

Seo, S., Solivan-Timpe, F., Roos, B. R., Robin, A. L., Stone, E. M., Kwon, Y. H., Alward, W. L. & Fingert, J. H. (2013). Identification of Proteins that Interact with TANK Binding Kinase 1 and Testing for Mutations Associated with Glaucoma. Current Eye Research, 38(2), 310-315. PMID: 23286385.

Jacobson, S. G., Cideciyan, A. V., Peshenko, I. V., Sumaroka, A., Olshevskaya, E. V., Cao, L., Schwartz, S. B., Roman, A. J., Olivares, M. B., Sadigh, S., Yau, K. W., Heon, E., Stone, E. M. & Dizhoor, A. M. (2013). Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. Human Molecular Genetics, 22(1), 168-83. PMID: 23035049.

Stamler, J. F., Roos, B. R., Wagoner, M. D., Goins, K. M., Kitzmann, A. S., Riley, J. B., Stone, E. M. & Fingert, J. H. (2013). Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States. Ophthalmic Genetics, 34(1-2), 32-34. PMID: 22998502.

Cunningham, M. A., Boldt, H. C. & Stone, E. M. (2013). Retinal Detachment in a Patient with Leber Congenital Amaurosis. Retinal Cases & Brief Reports, 7(1), 102-4. PMID: 25390536.

Stone, E. M., Aldave, A. J., Drack, A. V., MacCumber, M. W., Sheffield, V. C., Traboulsi, E. & Weleber, R. G. (2013). Author Reply: to PMID 22944025. Ophthalmology, 120(10), e73. PMID: 24090960.

Zhang, Q., Nishimura, D., Vogel, T., Shao, J., Swiderski, R., Yin, T., Searby, C., Carter, C. C., Kim, G., Bugge, K., Stone, E. M. & Sheffield, V. C. (2013). BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking. J Cell Sci, 126(11), 2372-80. PMID: 23572516.

Sohn, E. H., Mullins, R. F. & Stone, E. M. (2013). Macular Dystrophies. In S. J. Ryan (Eds.) Retina. (5), pp. 850-90. 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. V., 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 Genet, 22(25), 5136-45. PMID: 23918662.

Perrault, I., Estrada-Cuzcano, A., Lopez, I., Kohl, S., Li, S., Testa, F., Zekveld-Vroon, R., Wang, X., Pomares, E., Andorf, J., Aboussair, N., Banfi, S., Delphin, N., den Hollander, A. I., Edelson, C., Florijn, R., Jean-Pierre, M., Leowski, C., Megarbane, A., Villanueva, C., Flores, B., Munnich, A., Ren, H., Zobor, D., Bergen, A., Chen, R., Cremers, F. P., Gonzalez-Duarte, R., Koenekoop, R. K., Simonelli, F., Stone, E., Wissinger, B., Zhang, Q., Kaplan, J. & Rozet, J. M. (2013). Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype. PLoS One, 8(1), e51622. PMID: 23308101.

McAnany, J. J., Genead, M. A., Walia, S., Drack, A. V., Stone, E. M., Koenekoop, R. K., Traboulski, E. I., Smith, A., Weleber, R. G., Jacobson, S. G. & Fishman, G. A. (2013). Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290. JAMA ophthalmology, 131(2), 178-82. PMID: 23411883.

Gregori, N. Z., Lam, B. L., Gregori, G., Ranganathan, S., Stone, E. M., Morante, A., Abukhalil, F. & Aroucha, P. R. (2013). Wide-Field Spectral-Domain Optical Coherence Tomography in Patients and Carriers of X-linked Retinoschisis. Ophthalmology, 120(1), 169-74. PMID: 23009889.

Seo, S., Mullins, R. F., Dumitrescu, A. V., Bhattarai, S., Gratie, D., Wang, K., Stone, E. M., Sheffield, V. & Drack, A. C. (2013). Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1. Invest Ophthalmol Vis Sci, 54(9), 6118-32. PMID: 23900607.

Fujinami, K., Lois, N., Mukherjee, R., McBain, V. A., Tsunoda, K., Tsubota, K., Stone, E. M., Fitzke, F. W., Bunce, C., Moore, A. T., Webster, A. R. & MIchaelides, M. (2013). A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations. Invest Ophthalmol Vis Sci, 54(13), 8181-90. PMID: 24265018.

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 photorecptor 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). Prioritzation of retinal disease genes: an integrative approach. Human Mutation, 34(6), 853-859. PMID: 23508994.

Bakall, B., Folk, J. C., Boldt, H. C., Sohn, E. H., Stone, E. M., Russell, S. R. & Mahajan, V. B. (2013). Aflibercept therapy for exudative age-related macular degeneration resistant to Bevacizumab and Ranibizumab. American Journal of Ophthalmology, 156(1), 15-22. PMID: 23706500.

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.

Scheetz, T. E., Fingert, J. H., Wang, K., Kuehn, M. H., Knudtson, K. L., Alward, W. L., Boldt, H. C., Russell, S. R., Folk, J. C., Casavant, T. L., Braun, T. A., Clark, A. F., Stone, E. M. & Sheffield, V. C. (2013). A Genome-Wide Association Study for Primary Open Angle Glaucoma and Macular Degeneration Reveals Novel Loci. (Vols. 8). (3), pp. e58657. PLoS One. PMID: 23536807.

Davis, A. S., Folk, J. C., Russell, S. R., Sohn, E. H., Boldt, H. C., Stone, E. M. & Mahajan, V. B. (2012). Intravitreal bevacizumab for peripapillary choroidal neovascular membranes. Archives of Ophthalmology, 130(8), 1073-1075. PMID: 22893085.

Jacobson, S. G., Cideciyan, A. V., Ratnakaram, R., Heon, E., Schwartz, S. B., Roman, A. J., Peden, M. C., Aleman, T. S., Boye, S. L., Sumaroka, A., Conlon, T. J., Calcedo, R., Pang, J. J., Erger, K. E., Olivares, M. B., Mullins, C. L., Swider, M., Kaushal, S., Feuer, W. J., Iannacone, A., Fishman, G. A., Stone, E. M., Byrne, B. J. & Hauswrith, W. W. (2012). Gene Therapy for Leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Archives of Ophthalmology, 130(1), 9-24. PMID: 21911650.

Tlucek, P. S., Folk, J. C., Orien, J. A., Stone, E. M. & Mahajan, V. B. (2012). Inhibition of Neovascularization but Not Fibrosis With the Fluocinolone Acetonide Implant in Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy. Archives of Ophthalmology,(11), 1395-1401. PMID: 22777573.

Mahajan, V. B., Skeie, J. M., Bassuk, A. G., Fingert, J. H., Braun, T. A., Daggett, H. T., Folk, J. C., Sheffield, V. C. & Stone, E. M. (2012). Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. PLOS Genetics, 8(10), e1003001. PMID: 23055945.

Zhang, Q., Yu, D., Seo, S., Stone, E. M. & Sheffield, V. C. (2012). Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome. Journal of Biological Chemistry, 287(24), 20625-20635.

Godara, P., Cooper, R. F., Sergouniotis, P. I., Diederichs, M. A., Streb, M. R., Genead, M. A., McAnany, J. J., Webster, A. R., Moore, A. T., Dubis, A. M., Neitz, M., Dubra, A., Stone, E. M., Fishman, G. A., Han, D. P., Michaelides, M. & Carroll, J. (2012). Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease. American Journal of Ophthalmology, 154(6), 987-1001.e1. PMID: 22959359.

Mullins, R. F., Kuehn, M. K., 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), 1883-1894. PMID: 22395892.

Zhang, Q. H., Seo, S., Bugge, K., Stone, E. M. & Sheffield, V. C. (2012). BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Human Molecular Genetics, 21(9), 1945-1953. PMID: 22228099.

Sohn, E. H., Mullins, R. F. & Stone, E. M. (2012). Macular Dystrophies. In S. J. Ryan (Eds.) Retina. The CV Mosby Company, St Louis, MO.

Fingert, J. H., Roos, B. R., Solivan-Timpe, F., MIller, K., Oetting, T. A., Wang, K., Kwon, Y. H., Scheetz, T. E., Stone, E. M. & Alward, W. L. (2012). Analysis of ASB10 variants in open angle glaucoma. Human Molecular Genetics, 21(40), 4543-4548. PMID: 22798626.

Zode, G. S., Bugge, K. E., Grozdanic, S. D., Kardon, R. H., Anderson, M. G., Stone, E. M. & Sheffield, V. C. (2012). Topical Ocular Sodium 4-phenylbutyrate Rescues Glaucoma in a Myocilin Mouse Model of Primary Open Angle Glaucoma. Investigative Ophthalmology & Visual Science, 53, 4678.

Zode, G. S., Bugge, K. E., Mohan, K., Grozdanic, S. D., Peters, J. C., Koehn, D. R., Anderson, M. G., Kardon, R. H., Stone, E. M. & Sheffield, V. C. (2012). Topical ocular sodium 4-phenylbutyrate rescues glaucoma in a myocilin mouse model of primary open-angle glaucoma. (Vols. 53). (3), pp. 1557-1565. Investigative Ophthalmology and Visual Science.

Drack, A. V., Dmitrescu, A. V., Bhattarai, S., Gratie, D., Stone, E. M., Mullins, R. & Sheffield, V. C. (2012). TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa, and prevents obesity in bardet biedl syndrome type 1 mice. Investigative Ophthalmology and Visual Science, 53(1), 100-106. PMID: 22110077.

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.

Stone, E. M., Aldave, A. J., Drack, A. V., Maccumber, M. W., Sheffield, V. C., Traboulsi, E. & Weleber, R. G. (2012). Recommendations for Genetic Testing of Inherited Eye Diseases: Report of the American Academy of Ophthalmology Task Force on Genetic Testing. Ophthalmology, 119(11), 2408-2410. PMID: 22944025.

Cideciyan, A. V., Swider, M., Aleman, T. S., Feuer, W. J., Schwartz, S. B., Russell, R. C., Steinberg, J. D., Stone, E. M. & Jacobson, S. G. (2012). Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials. Investigative Ophthalmology and Visual Science, 53(2), 841-852. PMID: 22247458.

Cox, K. F., Kerr, N. C., Kedrov, M., Nishimura, D., Jennings, B. J., Stone, E. M., Sheffield, V. C. & Iannaccone, A. (2012). Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. Vision Research, 75, 77-87. PMID: 22940089.

Skeie, J. M., Brown, E. N., Martinez, H. D., Russell, S. R., Birkholz, E. S., Folk, J. C., Boldt, H. C., Gehrs, K. M., Stone, E. M., Wright, M. E. & Mahajan, V. B. (2012). Proteomic analysis of vitreous biopsy techniques. Retina, 32(10), 2141-9.

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. Molecular Vision, 18(75-76), 705-713. PMID: 22509100.

Weleber, R. G., Michaelides, M., Trzupek, K. M., Stover, N. B. & Stone, E. M. (2011). The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis. Invest Ophthalmol Vis Sci, 52(1), 292-302. PMID: 20811047.

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, 430-435. PMID: 21321670.

Zhang, Q. H., Nishimura, D., Seo, S., Vogel, T., Morgan, D. A., Searby, C., Bugge, K., Stone, E. M., Rahmouni, K. & Sheffield, V. C. (2011). Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. Proceedings of the National Academy of Sciences of the United States of America, 108(51), 20678-20683. PMID: 22139371.

Stone, E. M., Luo, X., Heon, E., Lam, B. L., Weleber, R. G., Halder, J. A., Affatigato, L. M., Goldberg, J. B., Sumaroka, A., Schwartz, S. B., Cideciyan, A. V. & Jacobson, S. G. (2011). Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene. Investigative Ophthalmology and Visual Science, 52(13), 9665-9673. PMID: 22110072.

Pennesi, M. E., Stover, N. B., Stone, E. M., Chiang, P. W. & Weleber, R. G. (2011). Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1. Invest Ophthalmol Vis Sci, 52(11), 8166-73. PMID: 21900377.

Quellec, G., Russell, S. R., Seddon, J. M., Reynolds, R., Scheetz, T., Mahajan, V. B., Stone, E. M. & Abramoff, M. D. (2011). Automated discovery and quantification of image-based complex phenotypes: a twin study of drusen phenotypes in age-related macular degeneration. Investigative Ophthalmology and Visual Science, 52(12), 9195-9206.

Cideciyan, A. V., Rachel, R. A., Aleman, T. S., Swider, M., Schwartz, S. B., Sumaroka, A., Roman, A. J., Stone, E. M., Jacobson, S. G. & Swaroop, A. (2011). Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Human Molecular Genetics, 20(7), 1411-1423.

Mullins, R. F., Dewald, A. D., Streb, L. M., Wang, K., Kuehn, M. H. & Stone, E. M. (2011). Elevated membrane attach complex in human choroid with high risk complement factor H genotypes. Experimental Eye Research, 93(4), 565-567. PMID: 21729696.

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), 81-87. PMID: 21220633.

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, 415-20. PMID: 21482867.

Zode, G. S., Kuehn, M. H., Nishimura, D. Y., Searby, C. C., Mohan, K., Grozdanic, S. D., Bugge, K., Anderson, M. G., Clark, A. F., Stone, E. M. & Sheffield, V. C. (2011). Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma [erratum published in J Clin Invest. 2015; 125(8):3303. doi: 10.1172/JCI82799. PMID: 26237042]. Journal of Clinical Investigation, 121(9), 3542-53. PMID: 21821918.

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.

Sheffield, V. C., Stone, E. M. (2011). Genomics and the eye. New England Journal of Medicine, 364(20), 1932-1942. PMID: 21591945.

Baye, L. M., Patrinostro, X., Swaminathan, S., Beck, J. S., Zhang, Y., Stone, E. M., Sheffield, V. C. & Slusarski, D. C. (2011). The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness. Hum Mol Genet, 20(8), 1467-77. PMID: 21257638.

Iannaccone, A., Kerr, N. C., Kinnick, T. R., Calzada, J. I. & Stone, E. M. (2011). Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications. Arch Ophthalmol, 129(2), 211-7. PMID: 21320969.

Quellec, G., Russell, S. R., Scheetz, T. E., Stone, E. M. & Abramoff, M. D. (2011). Computational quantification of complex fundus phenotypes in age-related macular degeneration and Stargardt disease. Invest Ophthalmol Vis Sci, 52(6), 2976-81. PMID: 21310908.

Kinnick, T. R., Mullins, R. F., Dev, S., Leys, M., Mackey, D. A., Kay, C. N., Lam, B. L., Fishman, G. A., Traboulsi, E., Iezzi, R. & Stone, E. M. (2011). Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. Retina, 31(3), 581-95. PMID: 21273940.

Jacobson, S. G., Cideciyan, A. V., Aleman, T. S., Sumaroka, A., Roman, A. J., Swider, M., Schwartz, S. B., Banin, E. & Stone, E. M. (2011). Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining. Invest Ophthalmol Vis Sci, 52(1), 70-9. PMID: 20702822.

Aleman, T. S., Cideciyan, A. V., Aguirre, G. K., Huang, W. C., Mullins, C. L., Roman, A. J., Sumaroka, A., Olivares, M. B., Tsai, F. F., Schwartz, S. B., Vandenberghe, L. H., Limberis, M. P., Stone, E. M., Bell, P., Wilson, J. M. & Jacobson, S. G. (2011). Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model. Invest Ophthalmol Vis Sci, 52(9), 6898-910. PMID: 21757580.

Davis, L. K., Meyer, K. J., Schindler, E. I., Beck, J. S., Rudd, D. S., Grundstad, A. J., Scheetz, T. E., Braun, T., Fingert, J. H., Alward, W. L., Kwon, Y. H., Folk, J. C., Russell, S. R., Wassink, T., Sheffield, V. & Stone, E. M. (2011). Copy number variations and primary open-angle glaucoma. Invest Ophthalmol Vis Sci, 52(10), 7122-33. PMID: 21310917.

Genead, M. A., Fishman, G. A., Rha, J., Dubis, A. M., Bonci, D. M., Dubra, A., Stone, E. M., Neitz, M. & Carroll, J. (2011). Photoreceptor structure and function in patients with congenital achromatopsia. Invest Ophthalmol Vis Sci, 52(10), 7298-308. PMID: 21778272.

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. Proc Natl Acad Sci U S A, 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., 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. Hum Mol Genet, 20(12), 2482-94. PMID: 21447600.

Meyer, K. J., Davis, L. K., Schindler, E. I., Beck, J. S., Rudd, D. S., Grundstad, A. J., Scheetz, T. E., Braun, T. A., Fingert, J. H., Alward, W. L., Kwon, Y. H., Folk, J. C., Russell, S. R., Wassink, T., Stone, E. M. & Sheffield, V. (2011). Genome-wide analysis of copy number variants in age-related macular degeneration. Hum Genet, 129(1), 91-100. PMID: 20981449.

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), 618-23. PMID: 20847113.

Mahajan, V. B., Elkins, K. A., Russell, S. R., Boldt, H., Gehrs, K. M., Weingeist, T. A., Stone, E. M., Abramoff, M. D., Liu, D. & Folk, J. C. (2011). Bilateral intravitreal injection of antivascular endothelial growth factor therapy. Retina, 31(1), 31-5. PMID: 21187731.

Kardon, R., Anderson, S. C., Damarjian, T. G., Grace, E. M., Stone, E. M. & Kawasaki, A. (2011). Chromatic pupillometry in patients with retinitis pigmentosa. Ophthalmology, 118(2), 376-81. PMID: 20869119.

Lin, P., Shankar, S. P., Duncan, J., Slavotinek, A., Stone, E. M. & Rutar, T. (2010). Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband. J AAPOS, 14(1), 93-6. PMID: 20227630.

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 Genet, 6(3), e1000884. PMID: 20333246.

Drack, A. V., Lambert, S. R. & Stone, E. M. (2010). From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology. Am J Ophthalmol, 149(1), 10-17. PMID: 20103038.

Thompson, S., Whiting, R. E., Kardon, R. H., Stone, E. M. & Narfström, K. (2010). Effects of hereditary retinal degeneration due to a CEP290 mutation on the feline pupillary light reflex. Vet Ophthalmol, 13(3), 151-7. PMID: 20500714.

Mahajan, V. B., Stone, E. M. (2010). Patients with an acute zonal occult outer retinopathy-like illness rapidly improve with valacyclovir treatment. American Journal of Ophthalmology, 150(4), 511-518. PMID: 20691421.

Kimberling, W. J., Hildebrand, M. S., Shearer, A. E., Jensen, M. L., Halder, J. A., Trzupek, K., Cohn, E. S., Weleber, R. G., Stone, E. M. & Smith, R. J. (2010). Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genetics in Medicine, 12(8), 512-516. PMID: 20613545.

Rosenberg, T., Roos, B., Johnsen, T., Bech, N., Scheetz, T. E., Larsen, M., Stone, E. M. & Fingert, J. H. (2010). Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy. Molecular Vision, 16, 2659-2668. PMID: 21179233.

Nichols 2nd, L. L., Alur, R. P., Boobalan, E., Sergeev, Y. V., Caruso, R. C., Stone, E. M., Swaroop, A., Johnston, M. A. & Brooks, B. P. (2010). Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL. Human Mutation, 31(6), E1472-1483. PMID: 20513135.

Campbell, C. A., Della Santina, C. C., Meyer, N. C., Smith, N. B., Myrie, O. A., Stone, E. M., Fukushima, K., Califano, J., Carey, J. P., Hansen, M. R., Gantz, B. J., Minor, L. B. & Smith, R. J. (2010). Polymorphisms in KCNE1 or KCNE3 are not associated with Meniere disease in the Caucasian population. American Journal of Medical Genetics, 152A(1), 67-74. PMID: 20034061.

Pasadhika, S., Fishman, G. A., Stone, E. M., Lindeman, M., Zelkha, R., Lopez, I., Koenekoop, R. K. & Shahidi, M. (2010). Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis. Invest Ophthalmol Vis Sci, 51(5), 2608-14. PMID: 19959640.

Folk, J. C., Stone, E. M. (2010). Ranibizumab therapy for neovascular age-related macular degeneration. New England Journal of Medicine, 363(17), 1648-1655. PMID: 20961248.

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. Invest Ophthalmol Vis Sci, 51(10), 5336-42. PMID: 20484595.

Ko, A. C., Hernández, 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-?-enolase autoimmune retinopathy manifesting in early childhood. Arch Ophthalmol, 128(12), 1590-5. PMID: 21149784.

Thompson, S., Recober, A., Vogel, T. W., Kuburas, A., Owens, J. A., Sheffield, V. C., Russo, A. F. & Stone, E. M. (2010). Light aversion in mice depends on nonimage-forming irradiance detection. Behav Neurosci, 124(6), 821-7. PMID: 21038932.

Nishimura, D. Y., Baye, L. M., Perveen, R., Searby, C. C., Avila-Fernandez, A., Pereiro, I., Ayuso, C., Valverde, D., Bishop, P. N., Manson, F. D., Urquhart, J., Stone, E. M., Slusarski, D. C., Black, G. C. & Sheffield, V. C. (2010). Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. Am J Hum Genet, 86(5), 686-95. PMID: 20398886.

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. Mol Vis, 16, 1034-40. PMID: 20596252.

Walia, S., Fishman, G. A., Jacobson, S. G., Aleman, T. S., Koenekoop, R. K., Traboulsi, E. I., Weleber, R. G., Pennesi, M. E., Heon, E., Drack, A. V., Lam, B. L., Allikmets, R. & Stone, E. M. (2010). Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. Ophthalmology, 117(6), 1190-8. PMID: 20079931.

Sapp, J. C., Nishimura, D., Johnston, J. J., Stone, E. M., Héon, E., Sheffield, V. C. & Biesecker, L. G. (2010). Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity. Genet Med, 12(10), 623-7. PMID: 20949666.

Fingert, J. H., Roos, B., Eyestone, M. E., Pham, J. D., Mellot, M. L. & Stone, E. M. (2010). Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus. Ophthalmic Genet, 31(2), 77-80. PMID: 20450309.

Schindler, E. I., Nylen, E. L., Ko, A. C., Affatigato, L. M., Heggen, A. C., Wang, K., Sheffield, V. C. & Stone, E. M. (2010). Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population. Hum Mol Genet, 19(19), 3693-701. PMID: 20647261.

Stone, E. M. (2009). Progress toward effective treatments for human photoreceptor degenerations. Curr Opin Genet Dev, 19(3), 283-9. PMID: 19414246.

Meyer, E., Rahman, F., Owens, J., Pasha, S., Morgan, N. V., Trembath, R. C., Stone, E. M., Moore, A. T. & Maher, E. R. (2009). Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract. Mol Vis, 15, 1014-9. PMID: 19461930.

Sohn, E. H., Francis, P. J., Duncan, J. L., Weleber, R. G., Saperstein, D. A., Farrell, D. F. & Stone, E. M. (2009). Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy. Arch Ophthalmol, 127(7), 913-20. PMID: 19597114.

McMahon, T. T., Kim, L. S., Fishman, G. A., Stone, E. M., Zhao, X. C., Yee, R. W. & Malicki, J. (2009). CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci, 50(7), 3185-7. PMID: 19407021.

Jacobson, S. G., Aleman, T. S., Cideciyan, A. V., Roman, A. J., Sumaroka, A., Windsor, E. A., Schwartz, S. B., Heon, E. & Stone, E. M. (2009). Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci, 50(5), 2368-75. PMID: 19117922.

Walia, S., Fishman, G. A., Molday, R. S., Dyka, F. M., Kumar, N. M., Ehlinger, M. A. & Stone, E. M. (2009). Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin. Am J Ophthalmol, 147(1), 111-115.e1. PMID: 18834580.

Cideciyan, A. V., Swider, M., Aleman, T. S., Tsybovsky, Y., Schwartz, S. B., Windsor, E. A., Roman, A. J., Sumaroka, A., Steinberg, J. D., Jacobson, S. G., Stone, E. M. & Palczewski, K. (2009). ABCA4 disease progression and a proposed strategy for gene therapy. Hum Mol Genet, 18(5), 931-41. PMID: 19074458.

Drack, A. V., Johnston, R. & Stone, E. M. (2009). Which Leber congenital amaurosis patients are eligible for gene therapy trials?. Journal of AAPOS, 13(5), 463-465. PMID: 19840725.

Satz, J. S., Philp, A. R., Nguyen, H., Kusano, H., Lee, J., Turk, R., Riker, M. J., Hernandez, 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. Journal of Neuroscience, 29(42), 13136-13146. PMID: 19846701.

Aleman, T. S., Lam, B. L., Cideciyan, A. V., Sumaroka, A., Windsor, E. A., Roman, A. J., Schwartz, S. B., Stone, E. M. & Jacobson, S. G. (2009). Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets. Eye (Lond), 23(1), 230-3. PMID: 18704120.

Iannaccone, A., Fung, K. H., Eyestone, M. E. & Stone, E. M. (2009). Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. Am J Ophthalmol, 147(2), 307-312.e2. PMID: 18835469.

Kardon, R., Anderson, S. C., Damarjian, T. G., Grace, E. M., Stone, E. M. & Kawasaki, A. (2009). Chromatic pupil responses: preferential activation of the melanopsin-mediated versus outer photoreceptor-mediated pupil light reflex. Ophthalmology, 116(8), 1564-73. PMID: 19501408.

Genead, M. A., Fishman, G. A., Stone, E. M. & Allikmets, R. (2009). The natural history of stargardt disease with specific sequence mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci, 50(12), 5867-71. PMID: 19578016.

Aleman, T. S., Soumittra, N., Cideciyan, A. V., Sumaroka, A. M., Ramprasad, V. L., Herrera, W., Windsor, E. A., Schwartz, S. B., Russell, R. C., Roman, A. J., Inglehearn, C. F., Kumaramanickavel, G., Stone, E. M., Fishman, G. A. & Jacobson, S. G. (2009). CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. Invest Ophthalmol Vis Sci, 50(12), 5944-54. PMID: 19578027.

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. Hum Mutat, 30(8), 1183-8. PMID: 19431183.

Sundaresan, P., Vijayalakshmi, P., Thompson, S., Ko, A. C., Fingert, J. H. & Stone, E. M. (2009). Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. Molecular Vision, 15, 1781-7. PMID: 19753312.

Jacobson, S. G., Aleman, T. S., Cideciyan, A. V., Sumaroka, A., Schwartz, S. B., Windsor, E. A., Swider, M., Herrera, W. & Stone, E. M. (2009). Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. Mol Vis, 15, 1098-106. PMID: 19503738.

Williams, D. S., Aleman, T. S., Lillo, C., Lopes, V. S., Hughes, L. C., Stone, E. M. & Jacobson, S. G. (2009). Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C. Invest Ophthalmol Vis Sci, 50(8), 3881-9. PMID: 19324851.

Maguire, A. M., High, K. A., Auricchio, A., Wright, J. F., Pierce, E. A., Testa, F., Mingozzi, F., Bennicelli, J. L., Ying, G. S., Rossi, S., Fulton, A., Marshall, K. A., Banfi, S., Chung, D. C., Morgan, J. I., Hauck, B., Zelenaia, O., Zhu, X., Raffini, L., Coppieters, F., De Baere, E., Shindler, K. S., Volpe, N. J., Surace, E. M., Acerra, C., Lyubarsky, A., Redmond, T. M., Stone, E. M., Sun, J., McDonnell, J. W., Leroy, B. P., Simonelli, F. & Bennett, J. (2009). Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet, 374(9701), 1597-605. PMID: 19854499.

Pasadhika, S., Fishman, G. A., Allikmets, R. & Stone, E. M. (2009). Peripapillary retinal nerve fiber layer thinning in patients with autosomal recessive cone-rod dystrophy. Am J Ophthalmol, 148(2), 260-265.e1. PMID: 19406377.

Mahajan, V. B., Russell, S. R. & Stone, E. M. (2009). A new macular dystrophy with anomalous vascular development, pigment spots, cystic spaces, and neovascularization. Arch Ophthalmol, 127(11), 1449-57. PMID: 19901210.

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. Exp Eye Res, 89(5), 767-73. PMID: 19607829.

Thompson, S., Foster, R. G., Stone, E. M., Sheffield, V. C. & Mrosovsky, N. (2008). Classical and melanopsin photoreception in irradiance detection: negative masking of locomotor activity by light. Eur J Neurosci, 27(8), 1973-9. PMID: 18412618.

Maguire, A. M., Simonelli, F., Pierce, E. A., Pugh, E. N., Mingozzi, F., Bennicelli, J., Banfi, S., Marshall, K. A., Testa, F., Surace, E. M., Rossi, S., Lyubarsky, A., Arruda, V. R., Konkle, B., Stone, E. M., Sun, J., Jacobs, J., Dell'Osso, L., Hertle, R., Ma, J. X., Redmond, T. M., Zhu, X., Hauck, B., Zelenaia, O., Shindler, K. S., Maguire, M. G., Wright, J. F., Volpe, N. J., McDonnell, J. W., Auricchio, A., High, K. A. & Bennett, J. (2008). Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med, 358(21), 2240-8. PMID: 18441370.

Aleman, T. S., Cideciyan, A. V., Sumaroka, A., Windsor, E. A., Herrera, W., White, D. A., Kaushal, S., Naidu, A., Roman, A. J., Schwartz, S. B., Stone, E. M. & Jacobson, S. G. (2008). Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations. Invest Ophthalmol Vis Sci, 49(4), 1580-90. PMID: 18385078.

Wang, W. H., McNatt, L. G., Pang, I. H., Millar, J. C., Hellberg, P. E., Hellberg, M. H., Steely, H. T., Rubin, J. S., Fingert, J. H., Sheffield, V. C., Stone, E. M. & Clark, A. F. (2008). Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure. J Clin Invest, 118(3), 1056-64. PMID: 18274669.

Shankar, S. P., Fingert, J. H., Carelli, V., Valentino, M. L., King, T. M., Daiger, S. P., Salomao, S. R., Berezovsky, A., Belfort, R., Braun, T. A., Sheffield, V. C., Sadun, A. A. & Stone, E. M. (2008). Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. Ophthalmic Genet, 29(1), 17-24. PMID: 18363168.

Shah, S. S., Al-Rajhi, A., Brandt, J. D., Mannis, M. J., Roos, B., Sheffield, V. C., Syed, N. A., Stone, E. M. & Fingert, J. H. (2008). Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family. Opthalmic Genetics, 29(1), 41-45. PMID: 18363173.

Thompson, S., Philp, A. R. & Stone, E. M. (2008). Visual function testing: a quantifiable visually guided behavior in mice. Vision Res, 48(3), 346-52. PMID: 17825348.

Herrera, W., Aleman, T. S., Cideciyan, A. V., Roman, A. J., Banin, E., Ben-Yosef, T., Gardner, L. M., Sumaroka, A., Windsor, E. A., Schwartz, S. B., Stone, E. M., Liu, X. Z., Kimberling, W. J. & Jacobson, S. G. (2008). Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene. Invest Ophthalmol Vis Sci, 49(6), 2651-60. PMID: 18281613.

Jacobson, S. G., Cideciyan, A. V., Aleman, T. S., Sumaroka, A., Windsor, E. A., Schwartz, S. B., Heon, E. & Stone, E. M. (2008). Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci, 49(10), 4573-7. PMID: 18539930.

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). Invest Ophthalmol Vis Sci, 49(6), 2737-42. PMID: 18515598.

Ennis, S., Jomary, C., Mullins, R., Cree, A., Chen, X., Macleod, A., Jones, S., Collins, A., Stone, E. M. & 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.

Cideciyan, A. V., Aleman, T. S., Boye, S. L., Schwartz, S. B., Kaushal, S., Roman, A. J., Pang, J. J., Sumaroka, A., Windsor, E. A., Wilson, J. M., Flotte, T. R., Fishman, G. A., Heon, E., Stone, E. M., Byrne, B. J., Jacobson, S. G. & Hauswirth, W. W. (2008). Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci U S A, 105(39), 15112-7. PMID: 18809924.

Hayreh, S. S., Fingert, J. H., Stone, E. M. & Jacobson, D. M. (2008). Familial non-arteritic anterior ischemic optic neuropathy. Graefes Arch Clin Exp Ophthalmol, 246(9), 1295-305. PMID: 18587597.

Fingert, J. H., Oh, K., Chung, M., Scheetz, T. E., Andorf, J. L., Johnson, R. M., Sheffield, V. C. & Stone, E. M. (2008). Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa. Arch Ophthalmol, 126(9), 1301-7. PMID: 18779497.

Grassi, M. A., Folk, J. C., Scheetz, T. E., Taylor, C. M., Sheffield, V. C. & Stone, E. M. (2007). Complement factor H polymorphism p.Tyr402His and cuticular Drusen. Arch Ophthalmol, 125(1), 93-7. PMID: 17210858.

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. Exp Eye Res, 84(2), 378-80. PMID: 17109857.

Aleman, T. S., Cideciyan, A. V., Windsor, E. A., Schwartz, S. B., Swider, M., Chico, J. D., Sumaroka, A., Pantelyat, A. Y., Duncan, K. G., Gardner, L. M., Emmons, J. M., Steinberg, J. D., Stone, E. M. & Jacobson, S. G. (2007). Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations. Invest Ophthalmol Vis Sci, 48(3), 1319-29. PMID: 17325179.

White, D. R., Ganesh, A., Nishimura, D., Rattenberry, E., Ahmed, S., Smith, U. M., Pasha, S., Raeburn, S., Trembath, R. C., Rajab, A., Macdonald, F., Banin, E., Stone, E. M., Johnson, C. A., Sheffield, V. C. & Maher, E. R. (2007). Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. Eur J Hum Genet, 15(2), 173-8. PMID: 17106446.

Jacobson, S. G., Cideciyan, A. V., Aleman, T. S., Sumaroka, A., Schwartz, S. B., Windsor, E. A., Roman, A. J., Heon, E., Stone, E. M. & Thompson, D. A. (2007). RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression. Invest Ophthalmol Vis Sci, 48(1), 332-8. PMID: 17197551.

Fingert, J. H., Grassi, M. A., Janutka, J. C., East, J. S., Howard, J. G., Sheffield, V. C., Jacobson, D. M., Hayreh, S. S. & Stone, E. M. (2007). Mitochondrial variant G4132A is associated with familial non-arteritic anterior ischemic optic neuropathy in one large pedigree. Ophthalmic Genet, 28(1), 1-7. PMID: 17454741.

Fingert, J. H., Alward, W. L., Kwon, Y. H., Shankar, S. P., Andorf, J. L., Mackey, D. A., Sheffield, V. C. & Stone, E. M. (2007). No association between variations in the WDR36 gene and primary open-angle glaucoma. Archives of Ophthalmology, 125(3), 434-436. PMID: 17353431.

Hewitt, A. W., Bennett, S. L., Fingert, J. H., Cooper, R. L., Stone, E. M., Craig, J. E. & Mackey, D. A. (2007). The optic nerve head in myocilin glaucoma. Invest Ophthalmol Vis Sci, 48(1), 238-43. PMID: 17197538.

Fingert, J. H., Alward, W. L., Kwon, Y. H., Wang, K., Streb, L. M., Sheffield, V. C. & Stone, E. M. (2007). LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. American Journal of Ophthalmology, 144(6), 974-975. PMID: 18036875.

Fu, L., Garland, D., Yang, Z., Shukla, D., Rajendran, A., Pearson, E., Stone, E. M., Zhang, K. & Pierce, E. A. (2007). The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. Human Molecular Genetics, 16(20), 2411-2422.

Stone, E. M. (2007). Genetic testing for inherited eye disease. Archives of Ophthalmology, 125(2), 205-212. PMID: 17296896.

Fingert, J. H., Honkanen, R. A., Shankar, S. P., Affatigato, L. M., Ehlinger, M. A., Moore, M. D., Jampol, L. M., Sheffield, V. C., Stone, E. M. & Alward, W. L. (2007). Familial cavitary optic disk anomalies: identification of a novel genetic locus. American Journal of Ophthalmology, 143(5), 795-800. PMID: 17368552.

Shepard, A. R., Jacobson, N., Millar, J. C., Pang, I. H., Steely, H. T., Searby, C. C., Sheffield, V. C., Stone, E. M. & Clark, A. F. (2007). Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure. Hum Mol Genet, 16(6), 609-17. PMID: 17317787.

Honkanen, R. A., Jampol, L. M., Fingert, J. H., Moore, M. D., Taylor, C. M., Stone, E. M. & Alward, W. L. (2007). Familial cavitary optic disk anomalies: clinical features of a large family with examples of progressive optic nerve head cupping. American Journal of Ophthalmology, 143(5), 788-794. PMID: 17362864.

Thomas, G., Grassi, M. A., Lee, J. R., Edwards, A. O., Gorin, M. B., Klein, R., Casavant, T. L., Scheetz, T. E., Stone, E. M. & Williams, A. B. (2007). IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping. Invest Ophthalmol Vis Sci, 48(5), 2278-84. PMID: 17460291.

Cideciyan, A. V., Swider, M., Aleman, T. S., Roman, M. I., Sumaroka, A., Schwartz, S. B., Stone, E. M. & Jacobson, S. G. (2007). Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations. J Opt Soc Am A Opt Image Sci Vis, 24(5), 1457-67. PMID: 17429493.

O'Leary, B. M., Davis, S. G., Smith, M. F., Brown, B., Kemp, M. B., Almabrazi, H., Grundstad, J. A., Burns, T., Leontiev, V., Andorf, J., Clark, A. F., Sheffield, V. C., Casavant, T. L., Scheetz, T. E., Stone, E. M. & Braun, T. A. (2007). Transcript annotation prioritization and screening system (TrAPSS) for mutation screening. J Bioinform Comput Biol, 5(6), 1155-72. PMID: 18172923.

Cideciyan, A. V., Aleman, T. S., Jacobson, S. G., Khanna, H., Sumaroka, A., Aguirre, G. K., Schwartz, S. B., Windsor, E. A., He, S., Chang, B., Stone, E. M. & Swaroop, A. (2007). Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. Hum Mutat, 28(11), 1074-83. PMID: 17554762.

Stone, E. M. (2007). Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Am J Ophthalmol, 144(6), 791-811. PMID: 17964524.

Michaelides, M., Chen, L. L., Brantley, M. A., Andorf, J. L., Isaak, E. M., Jenkins, S. A., Holder, G. E., Bird, A. C., Stone, E. M. & Webster, A. R. (2007). ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy. Br J Ophthalmol, 91(12), 1650-5. PMID: 18024811.

Stone, E. M. (2007). Macular degeneration. Annual Review of Medicine, 58, 477-90. PMID: 16922634.

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. Proc Natl Acad Sci U S A, 104(49), 19422-7. PMID: 18032602.

Jacobson, S. G., Aleman, T. S., Cideciyan, A. V., Heon, E., Golczak, M., Beltran, W. A., Sumaroka, A., Schwartz, S. B., Roman, A. J., Windsor, E. A., Wilson, J. M., Aguirre, G. D., Stone, E. M. & Palczewski, K. (2007). Human cone photoreceptor dependence on RPE65 isomerase. Proc Natl Acad Sci U S A, 104(38), 15123-8. PMID: 17848510.

Kim, L. S., Fishman, G. A., Seiple, W. H., Szlyk, J. P. & Stone, E. M. (2007). Retinal dysfunction in carriers of bardet-biedl syndrome. Ophthalmic Genet, 28(3), 163-8. PMID: 17896315.

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. Invest Ophthalmol Vis Sci, 48(5), 1959-67. PMID: 17460247.

Jacobson, S. G., Cideciyan, A. V., Aleman, T. S., Sumaroka, A., Schwartz, S. B., Roman, A. J. & Stone, E. M. (2007). Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential. Ophthalmology, 114(5), 895-8. PMID: 17306875.

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. Invest Ophthalmol Vis Sci, 48(7), 3329-40. PMID: 17591906.

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). Exp Eye Res, 85(1), 34-43. PMID: 17477921.

Lam, B. L., Goldberg, J. L., Hartley, K. L., Stone, E. M. & Liu, M. (2007). Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene. Am J Ophthalmol, 144(1), 157-9. PMID: 17601449.

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. Invest Ophthalmol Vis Sci, 48(7), 3372-80. PMID: 17591911.

Brinig, M. F., Wilkinson, M. E., Daly, J. M., Jogerst, G. J. & Stone, E. M. (2007). Vision standards for licensing and driving. Optometry, 78(9), 439-445. PMID: 17765855.

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. Hum Mol Genet, 15(5), 667-77. PMID: 16399798.

Stone, E. M. (2006). A very effective treatment for neovascular macular degeneration. New England Journal of Medicine, 355(14), 1493-1495. PMID: 17021326.

Allen, R. C., Russell, S. R., Streb, L. M., Alsheikheh, A. & Stone, E. M. (2006). Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein. Eye (Lond), 20(2), 234-41. PMID: 15776010.

Fingert, J. H., Eliason, D. A., Phillips, N. C., Lotery, A. J., Sheffield, V. C. & Stone, E. M. (2006). Case of Stargardt disease caused by uniparental isodisomy. Archives of Ophthalmology, 124(5), 744-745. PMID: 16682602.

Daiger, S. P., Shankar, S. P., Schindler, A. B., Sullivan, L. S., Bowne, S. J., King, T. M., Daw, E. W., Stone, E. M. & Heckenlively, J. R. (2006). Genetic factors modifying clinical expression of autosomal dominant RP. Advances in Experimental Medicine and Biology, 572, 3-8. PMID: 17249547.

Azari, A. A., Aleman, T. S., Cideciyan, A. V., Schwartz, S. B., Windsor, E. A., Sumaroka, A., Cheung, A. Y., Steinberg, J. D., Roman, A. J., Stone, E. M., Sheffield, V. C. & Jacobson, S. G. (2006). Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Invest Ophthalmol Vis Sci, 47(11), 5004-10. PMID: 17065520.

Fingert, J. H., Kwon, Y. H., Moore, P. A., Johnston, R. M., Kim, K. Y., Sheffield, V. C., Alward, W. L. & Stone, E. M. (2006). The C677T variant in the methylenetetrahydrofolate reductase gene is not associated with disease in cohorts of pseudoexfoliation glaucoma and primary open-angle glaucoma patients from Iowa. Ophthalmic Genetics, 27(2), 39-41. PMID: 16754204.

Bischof, J. M., Chiang, A. P., Scheetz, T. E., Stone, E. M., Casavant, T. L., Sheffield, V. C. & Braun, T. A. (2006). Genome-wide identification of pseudogenes capable of disease-causing gene conversion. Human Mutation, 27(6), 545-552. PMID: 16671097.

Braun, T. A., Shankar, S. P., Davis, S., O'Leary, B., Scheetz, T. E., Clark, A. F., Sheffield, V. C., Casavant, T. L. & Stone, E. M. (2006). Prioritizing regions of candidate genes for efficient mutation screening. Hum Mutat, 27(2), 195-200. PMID: 16395665.

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. Hum Mutat, 27(9), 921-5. PMID: 16865697.

Scheetz, T. E., Kim, K. Y., Swiderski, R. E., Philp, A. R., Braun, T. A., Knudtson, K. L., Dorrance, A. M., DiBona, G. F., Huang, J., Casavant, T. L., Sheffield, V. C. & Stone, E. M. (2006). Regulation of gene expression in the mammalian eye and its relevance to eye disease. Proc Natl Acad Sci U S A, 103(39), 14429-34. PMID: 16983098.

Chiang, A. P., Beck, J. S., Yen, H. J., Tayeh, M. K., Scheetz, T. E., Swiderski, R. E., Nishimura, D. Y., Braun, T. A., Kim, K. Y., Huang, J., Elbedour, K., Carmi, R., Slusarski, D. C., Casavant, T. L., Stone, E. M. & Sheffield, V. C. (2006). Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc Natl Acad Sci U S A, 103(16), 6287-92. PMID: 16606853.

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.

Traboulsi, E. I., Koenekoop, R. & Stone, E. M. (2006). Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis. Ophthalmic Genet, 27(4), 113-5. PMID: 17148037.

Apushkin, M. A., Fishman, G. A., Taylor, C. M. & Stone, E. M. (2006). Novel de novo mutation in a patient with Best macular dystrophy. Arch Ophthalmol, 124(6), 887-9. PMID: 16769844.

Jacobson, S. G., Cideciyan, A. V., Sumaroka, A., Aleman, T. S., Schwartz, S. B., Windsor, E. A., Roman, A. J., Stone, E. M. & MacDonald, I. M. (2006). Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. Invest Ophthalmol Vis Sci, 47(9), 4113-20. PMID: 16936131.

Lotery, A. J., Baas, D., Ridley, C., Jones, R. P., Klaver, C. C., Stone, E. M., Nakamura, T., Luff, A., Griffiths, H., Wang, T., Bergen, A. A. & Trump, D. (2006). Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. Hum Mutat, 27(6), 568-74. PMID: 16652333.

Kuehn, M. H., Kim, C. Y., Ostojic, J., Bellin, M., Alward, W. L., Stone, E. M., Sakaguchi, D. S., Grozdanic, S. D. & Kwon, Y. H. (2006). Retinal synthesis and deposition of complement components induced by ocular hypertension. Exp Eye Res, 83(3), 620-8. PMID: 16677633.

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. Vis Neurosci, 22(5), 619-29. PMID: 16332273.

Galvin, J. A., Fishman, G. A., Stone, E. M. & Koenekoop, R. K. (2005). Evaluation of genotype-phenotype associations in leber congenital amaurosis. Retina, 25(7), 919-29. PMID: 16205573.

Stone, E. M. (2005). Challenges in genetic testing for clinical trials of inherited and orphan retinal diseases. Retina, 25(8), S72-S73.

Francis, P. J., Fishman, G. A., Trzupek, K. M., MacDonald, I. M., Stone, E. M. & Weleber, R. G. (2005). Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram. Archives of Ophthalmology, 123(8), 1146-1149. PMID: 16087855.

Héon, E., Westall, C., Carmi, R., Elbedour, K., Panton, C., Mackeen, L., Stone, E. M. & Sheffield, V. C. (2005). Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. Am J Med Genet A, 132A(3), 283-7. PMID: 15690372.

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), 1109-1118. PMID: 15772095.

Cideciyan, A. V., Swider, M., Aleman, T. S., Sumaroka, A., Schwartz, S. B., Roman, M. I., Milam, A. H., Bennett, J., Stone, E. M. & Jacobson, S. G. (2005). ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina. Invest Ophthalmol Vis Sci, 46(12), 4739-46. PMID: 16303974.

Nishimura, D. Y., Swiderski, R. E., Searby, C. C., Berg, E. M., Ferguson, A. L., Hennekam, R., Merin, S., Weleber, R. G., Biesecker, L. G., Stone, E. M. & Sheffield, V. C. (2005). Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet, 77(6), 1021-33. PMID: 16380913.

Schwartz, S. B., Aleman, T. S., Cideciyan, A. V., Windsor, E. A., Sumaroka, A., Roman, A. J., Rane, T., Smilko, E. E., Bennett, J., Stone, E. M., Kimberling, W. J., Liu, X. Z. & Jacobson, S. G. (2005). Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. Invest Ophthalmol Vis Sci, 46(2), 734-43. PMID: 15671307.

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. Arch Ophthalmol, 123(11), 1588-94. PMID: 16286623.

Jacobson, S. G., Aleman, T. S., Cideciyan, A. V., Sumaroka, A., Schwartz, S. B., Windsor, E. A., Traboulsi, E. I., Heon, E., Pittler, S. J., Milam, A. H., Maguire, A. M., Palczewski, K., Stone, E. M. & Bennett, J. (2005). Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. Proc Natl Acad Sci U S A, 102(17), 6177-82. PMID: 15837919.

Galvin, J. A., Fishman, G. A., Stone, E. M. & Koenekoop, R. K. (2005). Clinical phenotypes in carriers of Leber congenital amaurosis mutations. Ophthalmology, 112(2), 349-56. PMID: 15691574.

Sokal, I., Dupps, W. J., Grassi, M. A., Brown, J., Affatigato, L. M., Roychowdhury, N., Yang, L., Filipek, S., Palczewski, K., Stone, E. M. & Baehr, W. (2005). A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). Invest Ophthalmol Vis Sci, 46(4), 1124-32. PMID: 15790869.

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. Proc Natl Acad Sci U S A, 101(23), 8664-9. PMID: 15173597.

Wang, Q. L., Chen, S., Esumi, N., Swain, P. K., Haines, H. S., Peng, G., Melia, B. M., McIntosh, I., Heckenlively, J. R., Jacobson, S. G., Stone, E. M., Swaroop, A. & Zack, D. J. (2004). QRX, a novel homeobox gene, modulates photoreceptor gene expression. Hum Mol Genet, 13(10), 1025-40. PMID: 15028672.

Sunness, J. S., Cooney, M. J., Neuwirth, J. & Stone, E. M. (2004). Diagnostic and therapeutic challenges. Retina, 24(6), 957-961.

Oh, K. T., Weleber, R. G., Oh, D. M., Billingslea, A. M., Rosenow, J. & Stone, E. M. (2004). Clinical phenotype as a prognostic factor in Stargardt disease. Retina, 24(2), 254-62. PMID: 15097887.

Stone, E. M., Braun, T. A., Russell, S. R., Kuehn, M. H., Lotery, A. J., Moore, P. A., Eastman, C. G., Casavant, T. L. & Sheffield, V. C. (2004). Missense variations in the fibulin 5 gene and age-related macular degeneration. New England Journal of Medicine, 351(4), 346-353. PMID: 15269314.

Healey, D. L., Craig, J. E., Wilkinson, C. H., Stone, E. M. & Mackey, D. A. (2004). Attitudes to predictive DNA testing for myocilin glaucoma: experience with a large Australian family. J Glaucoma, 13(4), 304-11. PMID: 15226659.

Cideciyan, A. V., Aleman, T. S., Swider, M., Schwartz, S. B., Steinberg, J. D., Brucker, A. J., Maguire, A. M., Bennett, J., Stone, E. M. & Jacobson, S. G. (2004). Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence. Hum Mol Genet, 13(5), 525-34. PMID: 14709597.

Kang Derwent, J. J., Derlacki, D. J., Hetling, J. R., Fishman, G. A., Birch, D. G., Grover, S., Stone, E. M. & Pepperberg, D. R. (2004). Dark adaptation of rod photoreceptors in normal subjects, and in patients with Stargardt disease and an ABCA4 mutation. Invest Ophthalmol Vis Sci, 45(7), 2447-56. PMID: 15223829.

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 Res, 44(28), 3335-45. PMID: 15536001.

Oh, K. T., Weleber, R. G., Stone, E. M., Oh, D. M., Rosenow, J. & Billingslea, A. M. (2004). Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus. Retina, 24(6), 920-8. PMID: 15579991.

Jacobson, S. G., Sumaroka, A., Aleman, T. S., Cideciyan, A. V., Schwartz, S. B., Roman, A. J., McInnes, R. R., Sheffield, V. C., Stone, E. M., Swaroop, A. & Wright, A. F. (2004). Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Hum Mol Genet, 13(17), 1893-902. PMID: 15229190.

Oh, K. T., Oh, D. M., Weleber, R. G., Stone, E. M., Parikh, A., White, J., Deboer-Shields, K. A., Streb, L. & Vallar, C. (2004). Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa. Br J Ophthalmol, 88(12), 1533-7. PMID: 15548806.

Grover, S., Fishman, G. A. & Stone, E. M. (2004). A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa. Ophthalmology, 111(10), 1910-6. PMID: 15465556.

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. Proc Natl Acad Sci U S A, 101(47), 16588-93. PMID: 15539463.

Chiang, A. P., Nishimura, D., Searby, C., Elbedour, K., Carmi, R., Ferguson, A. L., Secrist, J., Braun, T., Casavant, T. L., Stone, E. M. & Sheffield, V. C. (2004). Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). Am J Hum Genet, 75(3), 475-84. PMID: 15258860.

Wright, A. F., Reddick, A. C., Schwartz, S. B., Ferguson, J. S., Aleman, T. S., Kellner, U., Jurklies, B., Schuster, A., Zrenner, E., Wissinger, B., Lennon, A., Shu, X., Cideciyan, A. V., Stone, E. M., Jacobson, S. G. & Swaroop, A. (2004). Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. Hum Mutat, 24(5), 439. PMID: 15459973.

Stone, E. M. (2003). Finding and interpreting genetic variations that are important to ophthalmologists. Transactions of the American Ophthalmological Society, 101, 437-484. PMID: 14971589.

Pianta, M. J., Aleman, T. S., Cideciyan, A. V., Sunness, J. S., Li, Y., Campochiaro, B. A., Campochiaro, P. A., Zack, D. J., Stone, E. M. & Jacobson, S. G. (2003). In vivo micropathology of Best macular dystrophy with optical coherence tomography. Exp Eye Res, 76(2), 203-11. PMID: 12565808.

Mykytyn, K., Nishimura, D. Y., Searby, C. C., Beck, G., Bugge, K., Haines, H. L., Cornier, A. S., Cox, G. F., Fulton, A. B., Carmi, R., Iannaccone, A., Jacobson, S. G., Weleber, R. G., Wright, A. F., Riise, R., Hennekam, R. C., Lüleci, G., Berker-Karauzum, S., Biesecker, L. G., Stone, E. M. & Sheffield, V. C. (2003). Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet, 72(2), 429-37. PMID: 12524598.

Milam, A. H., Barakat, M. R., Gupta, N., Rose, L., Aleman, T. S., Pianta, M. J., Cideciyan, A. V., Sheffield, V. C., Stone, E. M. & Jacobson, S. G. (2003). Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. Ophthalmology, 110(3), 549-58. PMID: 12623820.

The Collaborative Ocular Melanoma Study Group (2003). Trends in size and treatment of recently diagnosed choroidal melanoma, 1987-1997: findings from patients examined at collaborative ocular melanoma study (COMS) centers: COMS report no. 20. Arch Ophthalmol, 121(8), 1156-62.

Honkanen, R. A., Nishimura, D. Y., Swiderski, R. E., Bennett, S. R., Hong, S., Kwon, Y. H., Stone, E. M., Sheffield, V. C. & Alward, W. L. (2003). A family with Axenfeld-Rieger syndrome and Peters anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. American Journal of Ophthalmology, 135(3), 368-375. PMID: 12614756.

D'Amico, D. J., Goldberg, M. F., Hudson, H., Jerdan, J. A., Krueger, D. S., Luna, S. P., Robertson, S. M., Russell, S., Singerman, L., Slakter, J. S., Yannuzzi, L. & Zilliox, P. (2003). Anecoratave Acetate Clinical Study Group. Anecortave acetate as monotherapy for treatment of subfoveal neovascularization in age-related macular degeneration: twelve-month clinical outcomes. Ophthalmology, 110(12), 2372-2385. PMID: 14644721.

The Collaborative Ocular Melanoma Study Group (2003). Comparison of clinical, echographic, and histopathological measurements from eyes with medium-sized choroidal melanoma in the collaborative ocular melanoma study: COMS report no. 21. Arch Ophthalmol, 121(8), 1163-71.

Mackey, D. A., Healey, D. L., Fingert, J. H., Coote, M. A., Wong, T. L., Wilkinson, C. H., McCartney, P. J., Rait, J. L., de Graaf, A. P., Stone, E. M. & Craig, J. E. (2003). Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation. Arch Ophthalmol, 121(8), 1172-80. PMID: 12912696.

Schwartz, S. B., Aleman, T. S., Cideciyan, A. V., Swaroop, A., Jacobson, S. G. & Stone, E. M. (2003). De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa. Invest Ophthalmol Vis Sci, 44(8), 3593-7. PMID: 12882812.

Alward, W. L., Kwon, Y. H., Kawase, K., Craig, J. E., Hayreh, S. S., Johnson, A., Khanna, C. L., Yamamoto, T., Mackey, D. A., Roos, B. R., Affatigato, L. M., Sheffield, V. C. & Stone, E. M. (2003). Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. Am J Ophthalmol, 136(5), 904-10. PMID: 14597044.

Shepard, A. R., Jacobson, N., Sui, R., Steely, H. T., Lotery, A. J., Stone, E. M. & Clark, A. F. (2003). Characterization of rabbit myocilin: Implications for human myocilin glycosylation and signal peptide usage. BMC Genet, 4, 5. PMID: 12697062.

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. Hum Gene Ther, 14(17), 1663-71. PMID: 14633408.

Oh, K. T., Longmuir, R. A., Oh, D. M., Stone, E. M., Kopp, K., Brown, J., Fishman, G. A., Sonkin, P., Gehrs, K. M. & Weleber, R. G. (2003). Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23. Am J Ophthalmol, 136(2), 306-13. PMID: 12888054.

Jacobson, S. G., Cideciyan, A. V., Aleman, T. S., Pianta, M. J., Sumaroka, A., Schwartz, S. B., Smilko, E. E., Milam, A. H., Sheffield, V. C. & Stone, E. M. (2003). Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum Mol Genet, 12(9), 1073-8. PMID: 12700176.

Wilkinson, C. H., van der Straaten, D., Craig, J. E., Coote, M. A., McCartney, P. J., Stankovich, J., Stone, E. M. & Mackey, D. A. (2003). Tonography demonstrates reduced facility of outflow of aqueous humor in myocilin mutation carriers. J Glaucoma, 12(3), 237-42. PMID: 12782842.

Fishman, G. A., Stone, E. M., Eliason, D. A., Taylor, C. M., Lindeman, M. & Derlacki, D. J. (2003). ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. Arch Ophthalmol, 121(6), 851-5. PMID: 12796258.

Borges, A. S., Susanna, R., Carani, J. C., Betinjane, A. J., Alward, W. L., Stone, E. M., Sheffield, V. C. & Nishimura, D. Y. (2002). Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil. J Glaucoma, 11(1), 51-6. PMID: 11821690.

Graul, T. A., Kwon, Y. H., Zimmerman, M. B., Kim, C. S., Sheffield, V. C., Stone, E. M. & Alward, W. L. (2002). A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutation. American Journal of Ophthalmology, 134(6), 884-890. PMID: 12470758.

Fingert, J. H., Stone, E. M., Sheffield, V. C. & Alward, W. L. (2002). Myocilin glaucoma. Survey of Ophthalmology, 47(6), 547-561.

Jacobson, S. G., Cideciyan, A. V., Bennett, J., Kingsley, R. M., Sheffield, V. C. & Stone, E. M. (2002). Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. Arch Ophthalmol, 120(3), 376-9. PMID: 11879143.

Milam, A. H., Rose, L., Cideciyan, A. V., Barakat, M. R., Tang, W. X., Gupta, N., Aleman, T. S., Wright, A. F., Stone, E. M., Sheffield, V. C. & Jacobson, S. G. (2002). The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proc Natl Acad Sci U S A, 99(1), 473-8. PMID: 11773633.

Mykytyn, K., Nishimura, D. Y., Searby, C. C., Shastri, M., Yen, H. J., Beck, J. S., Braun, T., Streb, L. M., Cornier, A. S., Cox, G. F., Fulton, A. B., Carmi, R., Lüleci, G., Chandrasekharappa, S. C., Collins, F. S., Jacobson, S. G., Heckenlively, J. R., Weleber, R. G., Stone, E. M. & Sheffield, V. C. (2002). Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet, 31(4), 435-8. PMID: 12118255.

Duncan, J. L., Aleman, T. S., Gardner, L. M., De Castro, E., Marks, D. A., Emmons, J. M., Bieber, M. L., Steinberg, J. D., Bennett, J., Stone, E. M., MacDonald, I. M., Cideciyan, A. V., Maguire, M. G. & Jacobson, S. G. (2002). Macular pigment and lutein supplementation in choroideremia. Exp Eye Res, 74(3), 371-81. PMID: 12014918.

Alward, W. L., Kwon, Y. H., Khanna, C. L., Johnson, A., Hayreh, S. S., Zimmerman, M. B., Narkiewicz, J., Andorf, J. L., Moore, P. A., Fingert, J. H., Sheffield, V. C. & Stone, E. M. (2002). Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol, 120(9), 1189-97. PMID: 12215093.

Grover, S., Fishman, G. A. & Stone, E. M. (2002). Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations. Ophthalmology, 109(6), 1110-7. PMID: 12045052.

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. Hum Gene Ther, 13(6), 689-96. PMID: 11936968.

Héon, E., Greenberg, A., Kopp, K. K., Rootman, D., Vincent, A. L., Billingsley, G., Priston, M., Dorval, K. M., Chow, R. L., McInnes, R. R., Heathcote, G., Westall, C., Sutphin, J. E., Semina, E., Bremner, R. & Stone, E. M. (2002). VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet, 11(9), 1029-36. PMID: 11978762.

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. Hum Mol Genet, 10(2), 117-25. PMID: 11152659.

Nishimura, D. Y., Searby, C. C., Alward, W. L., Walton, D., Craig, J. E., Mackey, D. A., Kawase, K., Kanis, A. B., Patil, S. R., Stone, E. M. & Sheffield, V. C. (2001). A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am J Hum Genet, 68(2), 364-72. PMID: 11170889.

Nishimura, D. Y., Searby, C. C., Carmi, R., Elbedour, K., Van Maldergem, L., Fulton, A. B., Lam, B. L., Powell, B. R., Swiderski, R. E., Bugge, K. E., Haider, N. B., Kwitek-Black, A. E., Ying, L., Duhl, D. M., Gorman, S. W., Heon, E., Iannaccone, A., Bonneau, D., Biesecker, L. G., Jacobson, S. G., Stone, E. M. & Sheffield, V. C. (2001). Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet, 10(8), 865-74. PMID: 11285252.

Lotery, A. J., Jacobson, S. G., Fishman, G. A., Weleber, R. G., Fulton, A. B., Namperumalsamy, P., Héon, E., Levin, A. V., Grover, S., Rosenow, J. R., Kopp, K. K., Sheffield, V. C. & Stone, E. M. (2001). Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol, 119(3), 415-20. PMID: 11231775.

Donoso, L. A., Frost, A. T., Stone, E. M., Weleber, R. G., MacDonald, I. M., Hageman, G. S., Cibis, G. W., Ritter, R. & Edwards, A. O. (2001). Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity. Arch Ophthalmol, 119(4), 564-70. PMID: 11296022.

Fingert, J. H., Clark, A. F., Craig, J. E., Alward, W. L., Snibson, G. R., McLaughlin, M., Tuttle, L., Mackey, D. A., Sheffield, V. C. & Stone, E. M. (2001). Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension. Invest Ophthalmol Vis Sci, 42(1), 145-52. PMID: 11133859.

Donoso, L. A., Edwards, A. O., Frost, A., Vrabec, T., Stone, E. M., Hageman, G. S. & Perski, T. (2001). Autosomal dominant Stargardt-like macular dystrophy. Surv Ophthalmol, 46(2), 149-63. PMID: 11578648.

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. The FASEB Journal, 15(7), 1251-1253.

Chung, M. M., Oh, K. T., Streb, L. M., Kimura, A. E. & Stone, E. M. (2001). Visual outcome following subretinal hemorrhage in Best disease. Retina, 21(6), 575-80. PMID: 11756879.

The Collaborative Ocular Melanoma Study Group (2001). Assessment of metastatic disease status at death in 435 patients with large choroidal melanoma in the Collaborative Ocular Melanoma Study (COMS): COMS report no. 15. Arch Ophthalmol, 119(5), 670-76.

Melia, B. M., Abramson, D. H., Albert, D. M., Boldt, H. C., Earle, J. D., Hanson, W. F., Montague, P., Moy, C. S., Schachat, A. P., Simpson, E. R., Straatsma, B. R., Vine, A. K. & Weingeist, T. A. (2001). Collaborative ocular melanoma study (COMS) randomized trial of I-125 brachytherapy for medium choroidal melanoma. I. Visual acuity after 3 years COMS report no.16. Ophthalmology, 108(2), 348-366.

Ruiz, A., Kuehn, M. H., Andorf, J. L., Stone, E., Hageman, G. S. & Bok, D. (2001). Genomic organization and mutation analysis of the gene encoding lecithin retinol acyltransferase in human retinal pigment epithelium. Investigative Opthalmology and Visual Science, 42(1), 31-37.

Moy, C. S., Albert, D. M., Diener-West, M., McCaffrey, L. D., Scully, R. E. & Willson, J. K. (2001). Cause-specific mortality coding: methods in the collaborative ocular melanoma study coms report no.14. Controlled Clinical Trials, 22(3), 248-262.

Wang, W. H., McNatt, L. G., Shepard, A. R., Jacobson, N., Nishimura, D. Y., Stone, E. M., Sheffield, V. C. & Clark, A. F. (2001). Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR. Mol Vis, 7, 89-94. PMID: 11320352.

Biswas, S., Munier, F. L., Yardley, J., Hart-Holden, N., Perveen, R., Cousin, P., Sutphin, J. E., Noble, B., Batterbury, M., Kielty, C., Hackett, A., Bonshek, R., Ridgway, A., McLeod, D., Sheffield, V. C., Stone, E. M., Schorderet, D. F. & Black, G. C. (2001). Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet, 10(21), 2415-23. PMID: 11689488.

Stone, E. M., Sheffield, V. C. & Hageman, G. S. (2001). Molecular genetics of age-related macular degeneration. Hum Mol Genet, 10(20), 2285-92. PMID: 11673412.

Allen, R. C., Webster, A. R., Sui, R., Brown, J., Taylor, C. M. & Stone, E. M. (2001). Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease. Arch Ophthalmol, 119(11), 1659-65. PMID: 11709017.

Kuehn, M. H., Stone, E. M. & Hageman, G. S. (2001). Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders. Invest Ophthalmol Vis Sci, 42(13), 3123-9. PMID: 11726612.

Guymer, R. H., Héon, E., Lotery, A. J., Munier, F. L., Schorderet, D. F., Baird, P. N., McNeil, R. J., Haines, H., Sheffield, V. C. & Stone, E. M. (2001). Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Arch Ophthalmol, 119(5), 745-51. PMID: 11346402.

Shepard, A. R., Jacobson, N., Fingert, J. H., Stone, E. M., Sheffield, V. C. & Clark, A. F. (2001). Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cells. Invest Ophthalmol Vis Sci, 42(13), 3173-81. PMID: 11726619.

Kawase, C., Kawase, K., Taniguchi, T., Sugiyama, K., Yamamoto, T., Kitazawa, Y., Alward, W. L., Stone, E. M., Nishimura, D. Y. & Sheffield, V. C. (2001). Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients. J Glaucoma, 10(6), 477-82. PMID: 11740218.

Webster, A. R., Héon, E., Lotery, A. J., Vandenburgh, K., Casavant, T. L., Oh, K. T., Beck, G., Fishman, G. A., Lam, B. L., Levin, A., Heckenlively, J. R., Jacobson, S. G., Weleber, R. G., Sheffield, V. C. & Stone, E. M. (2001). An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci, 42(6), 1179-89. PMID: 11328725.

Sheffield, V. C., Nishimura, D. & Stone, E. M. (2001). The molecular genetics of Bardet-Biedl syndrome. Curr Opin Genet Dev, 11(3), 317-21. PMID: 11377969.

Milam, A. H., De Castro, E. B., Smith, J. E., Tang, W. X., John, S. K., Gorin, M. B., Stone, E. M., Aguirre, G. D. & Jacobson, S. G. (2001). Concentric retinitis pigmentosa: clinicopathologic correlations. Exp Eye Res, 73(4), 493-508. PMID: 11825021.

Mykytyn, K., Braun, T., Carmi, R., Haider, N. B., Searby, C. C., Shastri, M., Beck, G., Wright, A. F., Iannaccone, A., Elbedour, K., Riise, R., Baldi, A., Raas-Rothschild, A., Gorman, S. W., Duhl, D. M., Jacobson, S. G., Casavant, T., Stone, E. M. & Sheffield, V. C. (2001). Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat Genet, 28(2), 188-91. PMID: 11381270.

Craig, J. E., Baird, P. N., Healey, D. L., McNaught, A. I., McCartney, P. J., Rait, J. L., Dickinson, J. L., Roe, L., Fingert, J. H., Stone, E. M. & Mackey, D. A. (2001). Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier. Ophthalmology, 108(9), 1607-20. PMID: 11535458.

Lotery, A. J., Malik, A., Shami, S. A., Sindhi, M., Chohan, B., Maqbool, C., Moore, P. A., Denton, M. J. & Stone, E. M. (2001). CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation. Ophthalmic Genet, 22(3), 163-9. PMID: 11559858.

Clark, A. F., Steely, H. T., Dickerson, J. E., English-Wright, S., Stropki, K., McCartney, M. D., Jacobson, N., Shepard, A. R., Clark, J. I., Matsushima, H., Peskind, E. R., Leverenz, J. B., Wilkinson, C. W., Swiderski, R. E., Fingert, J. H., Sheffield, V. C. & Stone, E. M. (2001). Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues. Invest Ophthalmol Vis Sci, 42(8), 1769-80. PMID: 11431441.

Williams-Lyn, D., Flanagan, J., Buys, Y., Trope, G. E., Fingert, J. H., Stone, E. M. & Héon, E. (2000). The genetic aspects of adult-onset glaucoma: a perspective from the Greater Toronto area. Can J Ophthalmol, 35(1), 12-7. PMID: 10711378.

Haider, N. B., Jacobson, S. G., Cideciyan, A. V., Swiderski, R., Streb, L. M., Searby, C., Beck, G., Hockey, R., Hanna, D. B., Gorman, S., Duhl, D., Carmi, R., Bennett, J., Weleber, R. G., Fishman, G. A., Wright, A. F., Stone, E. M. & Sheffield, V. C. (2000). Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet, 24(2), 127-31. PMID: 10655056.

Sheffield, V. C., Alward, W. L. & Stone, E. M. (2000). The Glaucomas. In D. Valle (Eds.) The Molecular Basis of Inherited Disease. McGraw Hill.

Ghiasvand, N. M., Kanis, A. B., Helms, C., Sheffield, V. C., Stone, E. M. & Donis-Keller, H. (2000). Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21. Am J Med Genet, 90(2), 165-8. PMID: 10607958.

Lotery, A. J., Namperumalsamy, P., Jacobson, S. G., Weleber, R. G., Fishman, G. A., Musarella, M. A., Hoyt, C. S., Héon, E., Levin, A., Jan, J., Lam, B., Carr, R. E., Franklin, A., Radha, S., Andorf, J. L., Sheffield, V. C. & Stone, E. M. (2000). Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol, 118(4), 538-43. PMID: 10766140.

Webster, A. R., Brown Jr, J., Sheffield, V. C. & Stone, E. M. (2000). Molecular Genetics of Retinal Diseases. In S. J. Ryan , B. M. Glaser , R. G. Michels (Eds.) Retina. The CV Mosby Company, St Louis, MO.

Slavotinek, A. M., Stone, E. M., Mykytyn, K., Heckenlively, J. R., Green, J. S., Heon, E., Musarella, M. A., Parfrey, P. S., Sheffield, V. C. & Biesecker, L. G. (2000). Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet, 26(1), 15-6. PMID: 10973238.

Swiderski, R. E., Ross, J. L., Fingert, J. H., Clark, A. F., Alward, W. L., Stone, E. M. & Sheffield, V. C. (2000). Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization. Invest Ophthalmol Vis Sci, 41(11), 3420-8. PMID: 11006234.

Kerrison, J. B., Miller, N. R., Hsu, F., Beaty, T. H., Maumenee, I. H., Smith, K. H., Savino, P. J., Stone, E. M. & Newman, N. J. (2000). A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy. Am J Ophthalmol, 130(6), 803-12. PMID: 11124301.

Lotery, A. J., Munier, F. L., Fishman, G. A., Weleber, R. G., Jacobson, S. G., Affatigato, L. M., Nichols, B. E., Schorderet, D. F., Sheffield, V. C. & Stone, E. M. (2000). Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. Invest Ophthalmol Vis Sci, 41(6), 1291-6. PMID: 10798642.

Miano, M. G., Jacobson, S. G., Carothers, A., Hanson, I., Teague, P., Lovell, J., Cideciyan, A. V., Haider, N., Stone, E. M., Sheffield, V. C. & Wright, A. F. (2000). Pitfalls in homozygosity mapping. Am J Hum Genet, 67(5), 1348-51. PMID: 11007652.

Oh, K. T., Weleber, R. G., Lotery, A., Oh, D. M., Billingslea, A. M. & Stone, E. M. (2000). Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation. Arch Ophthalmol, 118(9), 1269-76. PMID: 10980774.

Jacobson, S. G., Cideciyan, A. V., Iannaccone, A., Weleber, R. G., Fishman, G. A., Maguire, A. M., Affatigato, L. M., Bennett, J., Pierce, E. A., Danciger, M., Farber, D. B. & Stone, E. M. (2000). Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci, 41(7), 1898-908. PMID: 10845615.

Van Hooser, J. P., Aleman, T. S., He, Y. G., Cideciyan, A. V., Kuksa, V., Pittler, S. J., Stone, E. M., Jacobson, S. G. & Palczewski, K. (2000). Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. Proc Natl Acad Sci U S A, 97(15), 8623-8. PMID: 10869443.

Fingert, J. H., Héon, E., Liebmann, J. M., Yamamoto, T., Craig, J. E., Rait, J., Kawase, K., Hoh, S. T., Buys, Y. M., Dickinson, J., Hockey, R. R., Williams-Lyn, D., Trope, G., Kitazawa, Y., Ritch, R., Mackey, D. A., Alward, W. L., Sheffield, V. C. & Stone, E. M. (1999). Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet, 8(5), 899-905. PMID: 10196380.

Swiderski, R. E., Ying, L., Cassell, M. D., Alward, W. L., Stone, E. M. & Sheffield, V. C. (1999). Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain. Brain Res Mol Brain Res, 68(1-2), 64-72. PMID: 10320784.

Iannaccone, A., Falsini, B., Haider, N., Del Porto, G., Stone, E. M. & Sheffield, V. C. (1999). Bardet-Biedl Syndrome Phenotypic Characteristics Associated with the BBS4 Locus. In Hollyfield (Eds.) Retinal Degenerative Diseases and Experimental Therapy. pp. 189-199. Kluwer Academics/Plenum Publishers, New York.

Fishman, G. A., Stone, E. M., Grover, S., Derlacki, D. J., Haines, H. L. & Hockey, R. R. (1999). Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. Arch Ophthalmol, 117(4), 504-10. PMID: 10206579.

El-Shanti, H., Al-Salem, M., El-Najjar, M., Ajlouni, K., Beck, J., Sheffield, V. C. & Stone, E. M. (1999). A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan. Journal of Medical Genetics, 36(11), 862-865. PMID: 10636733.

Swiderski, R. E., Reiter, R. S., Nishimura, D. Y., Alward, W. L., Kalenak, J. W., Searby, C. S., Stone, E. M., Sheffield, V. C. & Lin, J. J. (1999). Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects. Dev Dyn, 216(1), 16-27. PMID: 10474162.

Kanis, A. B., Al-Rajhi, A. A., Taylor, C. M., Mathers, W. D., Folberg, R. Y., Nishimura, D. Y., Sheffield, V. C. & Stone, E. M. (1999). Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci. Ophthalmic Genet, 20(4), 243-9. PMID: 10617922.

Mellott, M. L., Brown, J., Fingert, J. H., Taylor, C. M., Keech, R. V., Sheffield, V. C. & Stone, E. M. (1999). Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly. Arch Ophthalmol, 117(12), 1630-3. PMID: 10604668.

Stone, E. M., Lotery, A. J., Munier, F. L., Héon, E., Piguet, B., Guymer, R. H., Vandenburgh, K., Cousin, P., Nishimura, D., Swiderski, R. E., Silvestri, G., Mackey, D. A., Hageman, G. S., Bird, A. C., Sheffield, V. C. & Schorderet, D. F. (1999). A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet, 22(2), 199-202. PMID: 10369267.

Haider, N. B., Searby, C., Galperin, E., Mintz, L., Horowitz, M., Stone, E. M. & Sheffield, V. C. (1999). Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1). Gene, 240(1), 227-32. PMID: 10564830.

Gao, Y. Q., Danciger, M., Longmuir, R. A., Piriev, N. I., Zhao, D. Y., Heckenlively, J. R., Fishman, G. A., Weleber, R. G., Jacobson, S. G., Stone, E. M. & Farber, D. B. (1999). Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations. Invest Ophthalmol Vis Sci, 40(8), 1818-22. PMID: 10393054.

Zack, D. J., Dean, M., Molday, R. S., Nathans, J., Redmond, T. M., Stone, E. M., Swaroop, A., Valle, D. & Weber, B. H. (1999). What can we learn about age-related macular degeneration from other retinal diseases?. Mol Vis, 5, 30. PMID: 10562654.

Scott, D. A., Kraft, M. L., Stone, E. M., Sheffield, V. C. & Smith, R. J. (1998). Connexin mutations and hearing loss. Nature, 391(6662), 32. PMID: 9422505.

The Collaborative Ocular Melanoma Study Group (1998). The Collaborative Ocular Melanoma Study (COMS) randomized trial of pre-enucleation radiation of large choroidal melanoma III: local complications and observations following enucleation COMS report no. 11. Am J Ophthalmol, 126(3), 362-72. PMID: 9744369.

Fruend, C. L., Wang, Q. L., Chen, S., Muskat, B. L., Wiles, C. D., Sheffield, V. C., Jacobson, S. G., McInnes, R. R., Zack, D. J. & Stone, E. M. (1998). De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nature Genetics, 18(4), 311-312. PMID: 9537410.

Park, D., Arbour, N. C., Brown, D. M. & Stone, E. M. (1998). Best’s Disease -- Molecular and Clinical Findings. In D. R. Guyer , L. A. Yanuzzi , S. Chang & J. A. Shields , W. R. Green (Eds.) Vitreous-Retina-Macula: A Comprehensive Text. WB Saunders Company.

Millá, E., Héon, E., Piguet, B., Ducrey, N., Butler, N., Stone, E., Schorderet, D. F. & Munier, F. (1998). [Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies] (in German). Klinische Monatsblatter fur Augenheilkunde, 212(5), 305-308.

Alward, W. L., Semina, E. V., Kalenak, J. W., Héon, E., Sheth, B. P., Stone, E. M. & Murray, J. C. (1998). Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am J Ophthalmol, 125(1), 98-100. PMID: 9437321.

Stone, E. M., Webster, A. R., Vandenburgh, K., Streb, L. M., Hockey, R. R., Lotery, A. J. & Sheffield, V. C. (1998). Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nature Genetics, 20(4), 328-329. PMID: 9843201.

Stone, E. M. (1998). Expanding the repertoire of RP genes. Nature Genetics, 19(4), 311-313. PMID: 9697684.

Cideciyan, A. V., Hood, D. C., Huang, Y., Banin, E., Li, Z. Y., Stone, E. M., Milam, A. H. & Jacobson, S. G. (1998). Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. Proc Natl Acad Sci U S A, 95(12), 7103-8. PMID: 9618546.

Jacobson, D. M., Stone, E. M., Miller, N. R., Pollock, S. C., Fletcher, W. A., McNussen, P. J. & Martin, T. J. (1998). Relative afferent pupillary defects in patients with Leber hereditary optic neuropathy and unilateral visual loss. Am J Ophthalmol, 126(2), 291-5. PMID: 9727524.

Millá, E., Héon, E., Grounauer, P. A., Piguet, B., Ducrey, N., Stone, E. M., Schorderet, D. F. & Munier, F. L. (1998). Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa. Ophthalmic Genet, 19(3), 131-9. PMID: 9810568.

Fingert, J. H., Ying, L., Swiderski, R. E., Nystuen, A. M., Arbour, N. C., Alward, W. L., Sheffield, V. C. & Stone, E. M. (1998). Characterization and comparison of the human and mouse GLC1A glaucoma genes. Genome Res, 8(4), 377-84. PMID: 9548973.

Jacobson, S. G., Cideciyan, A. V., Huang, Y., Hanna, D. B., Freund, C. L., Affatigato, L. M., Carr, R. E., Zack, D. J., Stone, E. M. & McInnes, R. R. (1998). Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. Invest Ophthalmol Vis Sci, 39(12), 2417-26. PMID: 9804150.

Sheffield, V. C., Stone, E. M. & Carmi, R. (1998). Use of isolated inbred human populations for identification of disease genes. Trends Genet, 14(10), 391-6. PMID: 9820027.

Nishimura, D. Y., Swiderski, R. E., Alward, W. L., Searby, C. C., Patil, S. R., Bennet, S. R., Kanis, A. B., Gastier, J. M., Stone, E. M. & Sheffield, V. C. (1998). The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet, 19(2), 140-7. PMID: 9620769.

Alward, W. L., Fingert, J. H., Coote, M. A., Johnson, A., Lerner, S. F., Junqua, D., Durcan, F. J., McCartney, P. J., Mackey, D. A., Sheffield, V. C. & Stone, E. M. (1998). Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med, 338(15), 1022-7. PMID: 9535666.

Howe, J. R., Ringold, J. C., Summers, R. W., Mitros, F. A., Nishimura, D. Y. & Stone, E. M. (1998). A gene for familial juvenile polyposis maps to chromosome 18q21.1. Am J Hum Genet, 62(5), 1129-36. PMID: 9545410.

Howe, J. R., Roth, S., Ringold, J. C., Summers, R. W., Järvinen, H. J., Sistonen, P., Tomlinson, I. P., Houlston, R. S., Bevan, S., Mitros, F. A., Stone, E. M. & Aaltonen, L. A. (1998). Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science, 280(5366), 1086-8. PMID: 9582123.

The Collaborative Ocular Melanoma Study Group (1997). Mortality in patients with small choroidal melanoma. COMS report no. 4. Arch Ophthalmol, 115(7), 886-893.

Park, D. W., Polk, T. D. & Stone, E. M. (1997). Multiple evanescent white dot syndrome in a patient with Best disease. Archives of Ophthalmology, 115(10), 1342-1343.

Swain, P. K., Chen, S., Wang, Q. L., Affatigato, L. M., Coats, C. L., Brady, K. D., Fishman, G. A., Jacobson, S. G., Swaroop, A., Stone, E., Sieving, P. A. & Zack, D. J. (1997). Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron, 19(6), 1329-1336.

Zhang, Z., Zimonjic, D. B., Popescu, N. C., Wang, N., Gerhard, D. S., Stone, E. M., Arbour, N. C., De Vries, H. G., Scheffer, H., Gerritsen, J., Colle'e, J. M., Ten Kate, L. P. & Mukherjee, A. B. (1997). Human uteroglobin gene: structure, subchromosomal localization, and polymorphism. DNA Cell Biol, 16(1), 73-83. PMID: 9022046.

Stone, E. M., Fingert, J. H., Alward, W. L., Nguyen, T. D., Polansky, J. R., Sunden, S. L., Nishimura, D., Clark, A. F., Nystuen, A., Nichols, B. E., Mackey, D. A., Ritch, R., Kalenak, J. W., Craven, E. R. & Sheffield, V. C. (1997). Identification of a gene that causes primary open angle glaucoma. Science, 275(5300), 668-670.

Sheffield, V. C., Pierpont, M. E., Nishimura, D., Beck, J. S., Burns, T. L., Berg, M. A., Stone, E. M., Patil, S. R. & Lauer, R. M. (1997). Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis. Hum Mol Genet, 6(1), 117-21. PMID: 9002679.

Fishman, G. A., Stone, E. M., Alexander, K. R., Gilbert, L. D., Derlacki, D. J. & Butler, N. S. (1997). Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy. Ophthalmology, 104(2), 299-306. PMID: 9052636.

Walder, R. Y., Shalev, H., Brennan, T. M., Carmi, R., Elbedour, K., Scott, D. A., Hanauer, A., Mark, A. L., Patil, S., Stone, E. M. & Sheffield, V. C. (1997). Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint. Hum Mol Genet, 6(9), 1491-7. PMID: 9285786.

Weleber, R. G., Butler, N. S., Murphey, W. H., Sheffield, V. C. & Stone, E. M. (1997). X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR. Arch Ophthalmol, 115(11), 1429-35. PMID: 9366675.

Park, D. W., Polk, T. D. & Stone, E. M. (1997). Fluctuating vision in Best disease. Archives of Ophthalmology, 115(11), 1469-1470.

Lam, B. L., Fingert, J. H., Shutt, B. C., Singleton, E. M., Merin, L. M., Brown, H. H., Sheffield, V. C. & Stone, E. M. (1997). Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1). Ophthalmic Genet, 18(4), 175-84. PMID: 9457748.

Arbour, N. C., Zlotogora, J., Knowlton, R. G., Merin, S., Rosenmann, A., Kanis, A. B., Rokhlina, T., Stone, E. M. & Sheffield, V. C. (1997). Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. Hum Mol Genet, 6(5), 689-94. PMID: 9158143.

Brown, J., Fingert, J. H., Taylor, C. M., Lake, M., Sheffield, V. C. & Stone, E. M. (1997). Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1). Arch Ophthalmol, 115(1), 95-9. PMID: 9006432.

Nichols, B. E., Thompson, H. S. & Stone, E. M. (1997). Evaluation of a significantly shorter version of the Farnsworth-Munsell 100-hue test in patients with three different optic neuropathies. J Neuroophthalmol, 17(1), 1-6. PMID: 9093953.

Nystuen, A., Costeff, H., Elpeleg, O. N., Apter, N., Bonné-Tamir, B., Mohrenweiser, H., Haider, N., Stone, E. M. & Sheffield, V. C. (1997). Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene. Hum Mol Genet, 6(4), 563-9. PMID: 9097959.

Héon, E., Piguet, B., Munier, F., Sneed, S. R., Morgan, C. M., Forni, S., Pescia, G., Schorderet, D., Taylor, C. M., Streb, L. M., Wiles, C. D., Nishimura, D. Y., Sheffield, V. C. & Stone, E. M. (1996). Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. Arch Ophthalmol, 114(2), 193-8. PMID: 8573024.

Alward, W. L., Johnson, A. T., Nishimura, D. Y., Sheffield, V. C. & Stone, E. M. (1996). Molecular genetics of glaucoma: current status. Journal of Glaucoma, 5(4), 276-284. PMID: 8795774.

Johnson, A. T., Alward, W. L., Sheffield, V. C. & Stone, E. M. (1996). Genetics and Glaucoma. In R. Ritch , M. B. Shields , T. Krupin (Eds.) The Glaucomas. (39-54) CV Mosby, St Louis, MO.

Jacobson, S. G., Cideciyan, A. V., Maguire, A. M., Bennett, J., Sheffield, V. C. & Stone, E. M. (1996). Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS gene. Experimental Eye Research, 63(5), 603-608. PMID: 8994365.

Sheffield, V. C., Kraiem, Z., Beck, J. C., Nishimura, D., Stone, E. M., Salameh, M., Sadeh, O. & Glaser, B. (1996). Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. Nat Genet, 12(4), 424-6. PMID: 8630498.

Scott, D. A., Carmi, R., Elbedour, K., Yosefsberg, S., Stone, E. M. & Sheffield, V. C. (1996). An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. Am J Hum Genet, 59(2), 385-91. PMID: 8755925.

Piguet, B., Héon, E., Munier, F. L., Grounauer, P. A., Niemeyer, G., Butler, N., Schorderet, D. F., Sheffield, V. C. & Stone, E. M. (1996). Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene. Ophthalmic Genet, 17(4), 175-86. PMID: 9010868.

Nystuen, A., Benke, P. J., Merren, J., Stone, E. M. & Sheffield, V. C. (1996). A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum Mol Genet, 5(4), 525-31. PMID: 8845847.

Sunden, S. L., Alward, W. L., Nichols, B. E., Rokhlina, T. R., Nystuen, A., Stone, E. M. & Sheffield, V. C. (1996). Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genes. Genome Res, 6(9), 862-9. PMID: 8889553.

Kuntz, C. A., Jacobson, S. G., Cideciyan, A. V., Li, Z. Y., Stone, E. M., Possin, D. & Milam, A. H. (1996). Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration. Invest Ophthalmol Vis Sci, 37(9), 1772-82. PMID: 8759344.

Barker, D. F., Pruchno, C. J., Jiang, X., Atkin, C. L., Stone, E. M., Denison, J. C., Fain, P. R. & Gregory, M. C. (1996). A mutation causing Alport syndrome with tardive hearing loss is common in the western United States. Am J Hum Genet, 58(6), 1157-65. PMID: 8651292.

Jacobson, S. G., Cideciyan, A. V., Kemp, C. M., Sheffield, V. C. & Stone, E. M. (1996). Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene. Invest Ophthalmol Vis Sci, 37(8), 1662-74. PMID: 8675410.

Brown, D. M., Graemiger, R. A., Hergersberg, M., Schinzel, A., Messmer, E. P., Niemeyer, G., Schneeberger, S. A., Streb, L. M., Taylor, C. M., Kimura, A. E., Weingeist, T. A., Sheffield, V. C. & Stone, E. M. (1995). Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14. Archives of Ophthalmology, 113(5), 671-675.

Stone, E. M. (1995). Heritable disorders of RPE, Bruchs’ membrane, and the choriocapillaris. In K. Wright , F. Ellis , M. Mets , M. D. Monte , E. Buckley , E. Stone (Eds.) Pediatric Ophthalmology and Strabismus. pp. 431-447. Mosby, St Louis, MO.

Wright, K., Ellis, F., Mets, M., Monte, M. D., Buckley, E., Stone, E. (Eds.) (1995). Pediatric Ophthalmology and Strabismus. Mosbey, St Louis, MO.

Scott, D. A., Carmi, R., Elbedour, K., Duyk, G. M., Stone, E. M. & Sheffield, V. C. (1995). Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. American Journal of Human Genetics, 57(4), 965-968. PMID: 7573061.

Drack, A. V., Stone, E. M. (1995). Patterns of retinal disease in children. In K. Wright , F. Ellis , M. Mets , M. D. Monte , E. Buckley , E. Stone (Eds.) Pediatric Ophthalmology and Strabismus. pp. 563-580. Mosby, St Louis, MO.

Brown, D. M., Vandenburgh, K., Kimura, A. E., Weingeist, T. A., Sheffield, V. C. & Stone, E. M. (1995). Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy). (Vols. 4). (1), pp. 141-142. Human Molecular Genetics.

Carmi, R., Rokhlina, T., Kwitek-Black, A. E., Elbedour, K., Nishimura, D., Stone, E. M. & Sheffield, V. C. (1995). Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet, 4(1), 9-13. PMID: 7711739.

Héon, E., Sheth, B. P., Kalenak, J. W., Sunden, S. L., Streb, L. M., Taylor, C. M., Alward, W. L., Sheffield, V. C. & Stone, E. M. (1995). Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Hum Mol Genet, 4(8), 1435-9. PMID: 7581385.

Jacobson, S. G., Cideciyan, A. V., Regunath, G., Rodriguez, F. J., Vandenburgh, K., Sheffield, V. C. & Stone, E. M. (1995). Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. Nat Genet, 11(1), 27-32. PMID: 7550309.

Carmi, R., Elbedour, K., Stone, E. M. & Sheffield, V. C. (1995). Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. Am J Med Genet, 59(2), 199-203. PMID: 8588586.

Kimura, A. E., Drack, A. V. & Stone, E. M. (1995). Retinitis Pigmentosa and Associated Disorders. In K. Wright , F. Ellis & M. Mets , M. D. Monte , E. Buckley , E. Stone (Eds.) Pediatric Ophthalmology and Strabismus. pp. 449-466. Mosby, St Louis, MO.

Bascom, R. A., Liu, L., Heckenlively, J. R., Stone, E. M. & McInnes, R. R. (1995). Mutation analysis of the ROM1 gene in retinitis pigmentosa. Hum Mol Genet, 4(10), 1895-902. PMID: 8595413.

Sheffield, V. C., Nishimura, D. Y. & Stone, E. M. (1995). Novel approaches to linkage mapping. Curr Opin Genet Dev, 5(3), 335-41. PMID: 7549428.

Lam, B. L., Vandenburgh, K., Sheffield, V. C. & Stone, E. M. (1995). Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop). Am J Ophthalmol, 119(1), 65-71. PMID: 7825692.

Gorin, M. B., Jackson, K. E., Ferrell, R. E., Sheffield, V. C., Jacobson, S. G., Gass, J. D., Mitchell, E. & Stone, E. M. (1995). A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. Ophthalmology, 102(2), 246-55. PMID: 7862413.

Héon, E., Mathers, W. D., Alward, W. L., Weisenthal, R. W., Sunden, S. L., Fishbaugh, J. A., Taylor, C. M., Krachmer, J. H., Sheffield, V. C. & Stone, E. M. (1995). Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet, 4(3), 485-8. PMID: 7795607.

Fishman, G. A., Stone, E., Gilbert, L. D., Vandenburgh, K., Sheffield, V. C. & Heckenlively, J. R. (1994). Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Ophthalmology, 101(8), 1409-1421. PMID: 8058286.

Stone, E. M., Sheffield, V. C. (1994). The Molecular Genetic Approach to Macular Degeneration. In A. F. Wright , B. Jay (Eds.) Molecular Genetics of Inherited Eye Disorders. pp. 173-195. Harwood Academic Publishers, Chur, Switzerland.

Stone, E. M., Nichols, B. E., Kimura, A. E., Weingeist, T. A., Drack, A. & Sheffield, V. C. (1994). Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Archives of Ophthalmology, 112(6), 765-772.

Feist, R. M., White Jr, M. F., Skalka, H. & Stone, E. M. (1994). Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg). American Journal of Ophthalmology, 118(2), 259-260.

Nichols, B. E., Bascom, R., Litt, M., McInnes, R., Sheffield, V. C. & Stone, E. M. (1994). Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1. Am J Hum Genet, 54(1), 95-103. PMID: 8279475.

Folberg, R., Stone, E. M., Sheffield, V. C. & Mathers, W. D. (1994). The relationship between granular, lattice type 1, and Avellino corneal dystrophies. A histopathologic study. Arch Ophthalmol, 112(8), 1080-5. PMID: 8053822.

Stone, E. M., Mathers, W. D., Rosenwasser, G. O., Holland, E. J., Folberg, R., Krachmer, J. H., Nichols, B. E., Gorevic, P. D., Taylor, C. M. & Streb, L. M. (1994). Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet, 6(1), 47-51. PMID: 8136834.

Sheffield, V. C., Carmi, R., Kwitek-Black, A., Rokhlina, T., Nishimura, D., Duyk, G. M., Elbedour, K., Sunden, S. L. & Stone, E. M. (1994). Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet, 3(8), 1331-5. PMID: 7987310.

Kemp, C. M., Jacobson, S. G., Cideciyan, A. V., Kimura, A. E., Sheffield, V. C. & Stone, E. M. (1994). RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function. Invest Ophthalmol Vis Sci, 35(8), 3154-62. PMID: 8045710.

Joos, K. M., Kimura, A. E., Vandenburgh, K., Bartley, J. A. & Stone, E. M. (1994). Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene. Arch Ophthalmol, 112(12), 1574-9. PMID: 7993212.

Brown, D. M., Kimura, A. E., Weingeist, T. A. & Stone, E. M. (1994). Erosive vitreoretinopathy. A new clinical entity. Ophthalmology, 101(4), 694-704. PMID: 8152765.

Nichols, B. E., Drack, A. V., Vandenburgh, K., Kiumra, A. E., Sheffield, V. C. & Stone, E. M. (1993). A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. Human Molecular Genetics, 2(8), 601-603. PMID: 8251014.

Stone, E. M., Vandenburgh, K., Nichols, B. E. & Sheffield, V. C. (1993). Identification of rhodopsin gene mutations using GC-clamped denaturing gradient gel electrophoresis. In P. Hargrave (Eds.) Photoreceptor Cells (Methods in Neurosciences). pp. 377-392. Academic Press, Orlando, FL.

Johnson, A. T., Drack, A. V., Kwitek, A. E., Cannon, R. L., Stone, E. M. & Alward, W. L. (1993). Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma. Ophthalmology, 100(4), 524-529. PMID: 8479711.

Nichols, B. E., Sheffield, V. C., Vandenburgh, K., Drack, A. V., Kimura, A. E. & Stone, E. M. (1993). Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet, 3(3), 202-7. PMID: 8485574.

Stone, E. M., Nichols, B. E., Wolken, M. S., Montague, P. R. & Thompson, H. S. (1993). New normative data for the Farnsworth-Munsell 100-hue test. In Colour Vision Deficiencies XI. pp. 303-320. Kluwer Academic Publishers.

Sheffield, V. C., Stone, E. M., Alward, W. L., Drack, A. V., Johnson, A. T., Streb, L. M. & Nichols, B. E. (1993). Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nature Genetics, 4(1), 47-50. PMID: 8513321.

Weleber, R. G., Carr, R. E., Murphey, W. H., Sheffield, V. C. & Stone, E. M. (1993). Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch Ophthalmol, 111(11), 1531-42. PMID: 8240110.

Kwitek-Black, A. E., Carmi, R., Duyk, G. M., Buetow, K. H., Elbedour, K., Parvari, R., Yandava, C. N., Stone, E. M. & Sheffield, V. C. (1993). Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nat Genet, 5(4), 392-6. PMID: 8298649.

Sheffield, V. C., Beck, J. S., Kwitek, A. E., Sandstrom, D. W. & Stone, E. M. (1993). The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics, 16(2), 325-32. PMID: 8314571.

Nichols, B. E., Sheffield, V. C. & Stone, E. M. (1993). A user-friendly Hypercard interface for human linkage analysis. Comput Appl Biosci, 9(6), 757-9. PMID: 8143163.

Emery, M. M., Siegfried, E. C., Stone, M. S., Stone, E. M. & Patil, S. R. (1993). Incontinentia pigmenti: transmission from father to daughter. J Am Acad Dermatol, 29(2 Pt 2), 368-72. PMID: 8340517.

Fishman, G. A., Stone, E. M., Sheffield, V. C., Gilbert, L. D. & Kimura, A. E. (1992). Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa. Arch Ophthalmol, 110(1), 54-62. PMID: 1731723.

Sheffield, V. C., Beck, J. S., Nichols, B., Cousineau, A., Lidral, A. & Stone, E. M. (1992). Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis. Am J Hum Genet, 50(3), 567-75. PMID: 1539594.

Stone, E. M., Newman, N. J., Miller, N. R., Johns, D. R., Lott, M. T. & Wallace, D. C. (1992). Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. J Clin Neuroophthalmol, 12(1), 10-4. PMID: 1532593.

Sheffield, V. C., Beck, J. S., Stone, E. M. & Myers, R. M. (1992). A simple and efficient method for attachment of a 40-base pair, GC-rich sequence to PCR-amplified DNA. Biotechniques, 12(3), 386-388. PMID: 1571147.

Fishman, G. A., Stone, E. M., Gilbert, L. D. & Sheffield, V. C. (1992). Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa. Arch Ophthalmol, 110(5), 646-53. PMID: 1580841.

Brown, D. M., Nichols, B. E., Weingeist, T. A., Sheffield, V. C., Kimura, A. E. & Stone, E. M. (1992). Procollagen II gene mutation in Stickler syndrome. Arch Ophthalmol, 110(11), 1589-93. PMID: 1444917.

Stone, E. M., Nichols, B. E., Streb, L. M., Kimura, A. E. & Sheffield, V. C. (1992). Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet, 1(4), 246-50. PMID: 1302019.

Stone, E. M., Kimura, A. E., Folk, J. C., Bennett, S. R., Nichols, B. E., Streb, L. M. & Sheffield, V. C. (1992). Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13. Hum Mol Genet, 1(9), 685-9. PMID: 1284594.

Fishman, G. A., Vandenburgh, K., Stone, E. M., Gilbert, L. D., Alexander, K. R. & Sheffield, V. C. (1992). Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa. Arch Ophthalmol, 110(11), 1582-8. PMID: 1444916.

Holland, E. J., Daya, S. M., Stone, E. M., Folberg, R., Dobler, A. A., Cameron, J. D. & Doughman, D. J. (1992). Avellino corneal dystrophy. Clinical manifestations and natural history. Ophthalmology, 99(10), 1564-8. PMID: 1454323.

Fishman, G. A., Stone, E. M., Gilbert, L. D., Kenna, P. & Sheffield, V. C. (1991). Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa. Arch Ophthalmol, 109(10), 1387-93. PMID: 1929926.

Jacobson, D. M., Stone, E. M. (1991). Difficulty differentiating Leber's from dominant optic neuropathy in a patient with remote visual loss. J Clin Neuroophthalmol, 11(3), 152-7. PMID: 1836796.

Stone, E. M., Kimura, A. E., Nichols, B. E., Khadivi, P., Fishman, G. A. & Sheffield, V. C. (1991). Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene. Ophthalmology, 98(12), 1806-13. PMID: 1775314.

Sheffield, V. C., Fishman, G. A., Beck, J. S., Kimura, A. E. & Stone, E. M. (1991). Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis. Am J Hum Genet, 49(4), 699-706. PMID: 1897520.

Stone, E. M., Schwartz, R. J. (1990). Intron dependent evolution of progenotic genes. In E. M. Stone , R. J. Schwartz (Eds.) Intervening Sequences in Evolution and Development. Oxford University Press.

Johnson, A., Folberg, R., Vrabec, M. P., Florakis, G. J., Stone, E. M. & Krachmer, J. H. (1990). The pathology of posterior amorphous corneal dystrophy. Ophthalmology, 97(1), 104-9. PMID: 2314832.

Blodi, C. F., Stone, E. M. (1990). Best's vitelliform dystrophy. Ophthalmic Paediatr Genet, 11(1), 49-59. PMID: 2190134.

Stone, E. M., Schwartz, R. J. (1990). Intervening Sequences in Evolution and Development. Oxford University Press.

Stone, E. M. (1990). Deletions of the long arm of chromosome 13. In D. H. Gold , T. A. Weingeist (Eds.) The Eye and Systemic Disease. pp. 1-13. JB Lippincott.

Bennett, S. R., Folk, J. C., Kimura, A. E., Russell, S. R., Stone, E. M. & Raphtis, E. M. (1990). Autosomal dominant neovascular inflammatory vitreoretinopathy. Ophthalmology, 97(9), 1125-35; discussion 1135-6. PMID: 2234842.

Smith, J. L., Tse, D. T., Byrne, S. F., Johns, D. R. & Stone, E. M. (1990). Optic nerve sheath distention in Leber's optic neuropathy and the significance of the "Wallace mutation". J Clin Neuroophthalmol, 10(4), 231-8. PMID: 2150839.

Stone, E. M., Coppinger, J. M., Kardon, R. H. & Donelson, J. (1990). Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy. Arch Ophthalmol, 108(10), 1417-20. PMID: 1977373.

Stone, E. M., Rothblum, K. N. & Schwartz, R. J. (1985). Intron-dependent evolution of chicken glyceraldehde phosphate dehydrogenase gen. Nature, 313(6002), 498-500.

Stone, E. M., Rothblum, K. N. & Schwartz, R. J. (1985). Complete sequence of the chicken glyceraldehyde-3-phosphate dehydrogenase gene. Proceedings of the National Academy of Sciences of the United States of America, 82(6), 1628-1632.

Dugaicyzk, A., Haron, J. A., Stone, E. M., Dennison, O. E., Rothblum, K. N. & Schwartz, R. J. (1983). Cloning and sequencing of a deoxyribonucleic acid copy of glyceraldehyde-3-phosphate dehydrogenase messenger ribonucleic acid isolated from chicken muscle. Biochemistry, 22(7), 1605-1613.

Schwartz, R. J., Stone, E. M. (1983). Cloning of contractile protein genes. Cell and Muscle Motility, 3, 195-257. PMID: 6200200.

Stone, E. M. (1983). Structure and expression of a vertebrate gene encoding the glycolytic enzyme glyceraldehyde-3-phosphate dehydrogenase [Doctoral Dissertation]. Baylor College of Medicine, Department of Cell Biology.