Edwin M. Stone - Publications

Affiliations: 
University of Iowa, Iowa City, IA 
Area:
Inherited eye disease

311 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Harvey CM, Whitmore SS, Critser DB, Affatigato LM, Daggett HT, Stone EM, Han IC. Scleral pits represent degeneration around the posterior ciliary arteries and are signs of disease severity in choroideremia. Eye (London, England). PMID 31554944 DOI: 10.1038/s41433-019-0599-4  0.44
2019 Han IC, Burnight E, Ulferts MJ, Worthington KS, Russell SR, Sohn EH, Mullins RF, Stone E, Tucker BA, Wiley LA. Helper-Dependent Adenovirus Transduces the Human and Rat Retina but Elicits an Inflammatory Reaction When Delivered Subretinally in Rats. Human Gene Therapy. PMID 31456426 DOI: 10.1089/hum.2019.159  0.68
2019 Giacalone JC, Andorf JL, Zhang Q, Burnight E, Ochoa D, Reutzel AJ, Collins MM, Sheffield V, Mullins RF, Han IC, Stone E, Tucker BA. Development of a Molecularly Stable Gene Therapy Vector for the Treatment of RPGR-associated X-linked Retinitis Pigmentosa. Human Gene Therapy. PMID 31106594 DOI: 10.1089/hum.2018.244  0.68
2019 Thompson JR, Worthington KS, Green BJ, Mullin NK, Jiao C, Kaalberg EE, Wiley LA, Han IC, Russell SR, Sohn EH, Guymon CA, Mullins RF, Stone EM, Tucker BA. Two-photon Polymerized Poly(caprolactone) Retinal Cell Delivery Scaffolds and their Systemic and Retinal Biocompatibility. Acta Biomaterialia. PMID 31055121 DOI: 10.1016/j.actbio.2019.04.057  0.68
2019 Sohn EH, Flamme-Wiese MJ, Whitmore SS, Workalemahu G, Marneros AG, Boese EA, Kwon YH, Wang K, Abramoff MD, Tucker BA, Stone EM, Mullins RF. Choriocapillaris Degeneration in Geographic Atrophy. The American Journal of Pathology. PMID 31051169 DOI: 10.1016/j.ajpath.2019.04.005  0.68
2019 Han IC, Whitmore SS, Critser DB, Lee SY, DeLuca AP, Daggett HT, Affatigato LM, Mullins RF, Tucker BA, Drack AV, Stone EM. Wide-Field Swept-Source OCT and Angiography in X-Linked Retinoschisis. Ophthalmology. Retina. 3: 178-185. PMID 31014769 DOI: 10.1016/j.oret.2018.09.006  0.68
2019 Scruggs BA, Jiao C, Cranston CM, Kaalberg E, Wang K, Russell SR, Wiley LA, Mullins RF, Stone EM, Tucker BA, Sohn EH. Optimizing Donor Cellular Dissociation and Subretinal Injection Parameters for Stem Cell-Based Treatments. Stem Cells Translational Medicine. PMID 31004408 DOI: 10.1002/sctm.18-0210  0.68
2019 Bohrer LR, Wiley LA, Burnight ER, Cooke JA, Giacalone JC, Anfinson KR, Andorf JL, Mullins RF, Stone EM, Tucker BA. Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9. Genes. 10. PMID 30959774 DOI: 10.3390/genes10040278  0.68
2019 Alward WLM, van der Heide C, Khanna CL, Roos BR, Sivaprasad S, Kam J, Ritch R, Lotery A, Igo RP, Cooke Bailey JN, Stone EM, Scheetz TE, Kwon YH, Pasquale LR, Wiggs JL, et al. Myocilin Mutations in Patients With Normal-Tension Glaucoma. Jama Ophthalmology. PMID 30816940 DOI: 10.1001/jamaophthalmol.2019.0005  0.52
2019 Zhang Q, Giacalone JC, Searby C, Stone EM, Tucker BA, Sheffield VC. Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP. Proceedings of the National Academy of Sciences of the United States of America. PMID 30622176 DOI: 10.1073/pnas.1817639116  0.92
2018 Burnight ER, Bohrer LR, Giacalone JC, Klaahsen DL, Daggett HT, East JS, Madumba RA, Worthington KS, Mullins RF, Stone EM, Tucker BA, Wiley LA. CRISPR-Cas9-Mediated Correction of the 1.02 kb Common Deletion in in Induced Pluripotent Stem Cells from Patients with Batten Disease. The Crispr Journal. 1: 75-87. PMID 31021193 DOI: 10.1089/crispr.2017.0015  0.68
2018 van der Heide CJ, Alward WLM, Flamme-Wiese M, Riker M, Syed NA, Anderson MG, Carter K, Kuehn MH, Stone EM, Mullins RF, Fingert JH. Histochemical Analysis of Glaucoma Caused by a Myocilin Mutation in a Human Donor Eye. Ophthalmology. Glaucoma. 1: 132-138. PMID 30906929 DOI: 10.1016/j.ogla.2018.08.004  0.68
2018 Giacalone JC, Miller MJ, Workalemahu G, Reutzel AJ, Ochoa D, Whitmore SS, Stone EM, Tucker BA, Mullins RF. Generation of an immortalized human choroid endothelial cell line (iChEC-1) using an endothelial cell specific promoter. Microvascular Research. 123: 50-57. PMID 30571950 DOI: 10.1016/j.mvr.2018.12.002  0.68
2018 Cheng J, Sohn EH, Jiao C, Adler KL, Kaalberg EE, Russell SR, Mullins RF, Stone EM, Tucker BA, Han IC. Correlation of Optical Coherence Tomography and Retinal Histology in Normal and Pro23His Retinal Degeneration Pig. Translational Vision Science & Technology. 7: 18. PMID 30519502 DOI: 10.1167/tvst.7.6.18  0.68
2018 Mullins RF, McGwin G, Searcey K, Clark ME, Kennedy EL, Curcio CA, Stone EM, Owsley C. The ARMS2 A69S Polymorphism Is Associated with Delayed Rod-Mediated Dark Adaptation in Eyes at Risk for Incident Age-Related Macular Degeneration. Ophthalmology. PMID 30389424 DOI: 10.1016/j.ophtha.2018.10.037  0.68
2018 Zeng S, Wen KK, Workalemahu G, Sohn EH, Wu M, Chirco KR, Flamme-Wiese MJ, Liu X, Stone EM, Tucker BA, Mullins RF. Imidazole Compounds for Protecting Choroidal Endothelial Cells from Complement Injury. Scientific Reports. 8: 13387. PMID 30190604 DOI: 10.1038/s41598-018-31846-z  0.68
2018 Green BJ, Worthington KS, Thompson JR, Bunn SJ, Rethwisch M, Kaalberg EE, Jiao C, Wiley LA, Mullins RF, Stone EM, Sohn EH, Tucker BA, Guymon CA. Effect of Molecular Weight and Functionality on Acrylated Poly(caprolactone) for Stereolithography and Biomedical Applications. Biomacromolecules. PMID 30044915 DOI: 10.1021/acs.biomac.8b00784  0.68
2018 Chirco KR, Flamme-Wiese MJ, Wiley JS, Potempa LA, Stone EM, Tucker BA, Mullins RF. Evaluation of serum and ocular levels of membrane attack complex and C-reactive protein in CFH-genotyped human donors. Eye (London, England). PMID 30013157 DOI: 10.1038/s41433-018-0170-8  0.68
2018 Burnight ER, Giacalone JC, Cooke JA, Thompson JR, Bohrer LR, Chirco KR, Drack AV, Fingert JH, Worthington KS, Wiley LA, Mullins RF, Stone EM, Tucker BA. CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration. Progress in Retinal and Eye Research. PMID 29578069 DOI: 10.1016/j.preteyeres.2018.03.003  0.68
2018 Giacalone JC, Sharma TP, Burnight ER, Fingert JF, Mullins RF, Stone EM, Tucker BA. 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 DOI: 10.1002/cpsc.46  0.68
2017 Weihbrecht K, Goar WA, Pak T, Garrison JE, DeLuca AP, Stone EM, Scheetz TE, Sheffield VC. 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. PMID 29457131  0.92
2017 Wiley LA, Burnight E, Kaalberg EE, Jiao C, Riker MJ, Halder JA, Luse MA, Han IC, Russell SR, Sohn EH, Stone E, Tucker BA, Mullins RF. ASSESSMENT OF AAV SEROTYPE TROPISM IN HUMAN RETINAL EXPLANTS. Human Gene Therapy. PMID 29160116 DOI: 10.1089/hum.2017.179  0.68
2017 DeLuca AP, Wallace LMA, Liebmann J, Ritch R, Kawase K, Kwon YH, Robin AL, Stone EM, Scheetz TE, Fingert JH. Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients. Journal of Glaucoma. PMID 28984711 DOI: 10.1097/IJG.0000000000000792  0.52
2017 Chirco KR, Lewis CJ, Scheetz TE, Johnston RM, Tucker BA, Stone EM, Fingert JH, Mullins RF. Evaluation of sFLT1 protein levels in human eyes with the FLT1 rs9943922 polymorphism. Ophthalmic Genetics. 1-5. PMID 28949775 DOI: 10.1080/13816810.2017.1369550  0.68
2017 Wiley LA, Anfinson KR, Cranston CM, Kaalberg EE, Collins MM, Mullins RF, Stone EM, Tucker BA. 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 DOI: 10.1002/cpsc.30  0.68
2017 Burnight ER, Gupta M, Wiley LA, Anfinson KR, Tran A, Triboulet R, Hoffmann JM, Klaahsen DL, Andorf JL, Jiao C, Sohn EH, Adur MK, Ross JW, Mullins RF, Daley GQ, ... ... Stone EM, et al. Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 28619647 DOI: 10.1016/j.ymthe.2017.05.015  0.68
2017 Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA. Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. Ophthalmology. PMID 28559085 DOI: 10.1016/j.ophtha.2017.04.008  0.92
2017 Lewis C, Hedberg-Buenz A, DeLuca AP, Stone EM, Alward WLM, Fingert JH. Primary Congenital and Developmental Glaucomas. Human Molecular Genetics. PMID 28549150 DOI: 10.1093/hmg/ddx205  0.52
2017 Chirco KR, Worthington KS, Flamme-Wiese MJ, Riker MJ, Andrade JD, Ueberheide BM, Stone EM, Tucker BA, Mullins RF. Preparation and evaluation of human choroid extracellular matrix scaffolds for the study of cell replacement strategies. Acta Biomaterialia. PMID 28483697 DOI: 10.1016/j.actbio.2017.05.011  0.68
2017 Songstad AE, Worthington KS, Chirco KR, Giacalone JC, Whitmore SS, Anfinson KR, Ochoa D, Cranston CM, Riker MJ, Neiman M, Stone EM, Mullins RF, Tucker BA. Connective Tissue Growth Factor Promotes Efficient Generation of Human induced pluripotent stem cell-Derived Choroidal Endothelium. Stem Cells Translational Medicine. PMID 28474838 DOI: 10.1002/sctm.16-0399  0.68
2017 Sharma TP, Wiley LA, Whitmore SS, Anfinson KR, Cranston CM, Oppedal DJ, Daggett HT, Mullins RF, Tucker BA, Stone EM. Patient-specific induced pluripotent stem cells to evaluate the pathophysiology of TRNT1-associated Retinitis pigmentosa. Stem Cell Research. 21: 58-70. PMID 28390992 DOI: 10.1016/j.scr.2017.03.005  0.68
2017 Worthington KS, Wiley LA, Kaalberg EE, Collins MM, Mullins RF, Stone EM, Tucker BA. Two-photon polymerization for production of human iPSC-derived retinal cell grafts. Acta Biomaterialia. PMID 28351682 DOI: 10.1016/j.actbio.2017.03.039  0.68
2017 Guziewicz KE, Sinha D, Gómez NM, Zorych K, Dutrow EV, Dhingra A, Mullins RF, Stone EM, Gamm DM, Boesze-Battaglia K, Aguirre GD. Bestrophinopathy: An RPE-photoreceptor interface disease. Progress in Retinal and Eye Research. PMID 28111324 DOI: 10.1016/j.preteyeres.2017.01.005  0.68
2016 Wiley LA, Burnight ER, DeLuca AP, Anfinson KR, Cranston CM, Kaalberg EE, Penticoff JA, Affatigato LM, Mullins RF, Stone EM, Tucker BA. cGMP production of patient-specific iPSCs and photoreceptor precursor cells to treat retinal degenerative blindness. Scientific Reports. 6: 30742. PMID 27471043 DOI: 10.1038/srep30742  0.92
2016 Wiley LA, Burnight E, Drack AV, Banach BB, Ochoa D, Cranston CM, Madumba RA, East JS, Mullins RF, Stone E, Tucker BA. Using patient-specific induced pluripotent stem cells and wild-type mice to develop a gene augmentation-based strategy to treat CLN3-associated retinal degeneration. Human Gene Therapy. PMID 27400765 DOI: 10.1089/hum.2016.049  0.92
2016 Chirco KR, Scott Whitmore S, Wang K, Potempa LA, Halder JA, Stone EM, Tucker BA, Mullins RF. Monomeric C-reactive protein and inflammation in Age-related Macular Degeneration The role of monomeric C-reactive protein in AMD. The Journal of Pathology. PMID 27376713 DOI: 10.1002/path.4766  0.92
2016 McAnany JJ, Park JC, Collison FT, Fishman GA, Stone EM. Abnormal 8-Hz flicker electroretinograms in carriers of X-linked retinoschisis. Documenta Ophthalmologica. Advances in Ophthalmology. PMID 27369766 DOI: 10.1007/s10633-016-9551-0  0.92
2016 Weed MC, Almeida DR, Chin EK, Stone EM. Distinguishing optic pathway glioma and retinitis pigmentosa with visual field testing. Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie. 51: e94-6. PMID 27316291 DOI: 10.1016/j.jcjo.2016.01.009  0.92
2016 Scheetz TE, Roos BR, Solivan-Timpe F, Miller K, DeLuca AP, Stone EM, Kwon YH, Alward WL, Wang K, Fingert JH. SQSTM1 Mutations and Glaucoma. Plos One. 11: e0156001. PMID 27275741 DOI: 10.1371/journal.pone.0156001  0.92
2016 Wiley LA, Beebe DC, Mullins RF, Stone EM, Tucker BA. 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 DOI: 10.1002/cpsc.3  0.68
2016 Collison FT, Park JC, Fishman GA, Stone EM, McAnany JJ. Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations. Documenta Ophthalmologica. Advances in Ophthalmology. PMID 27033713 DOI: 10.1007/s10633-016-9535-0  0.92
2016 Huckfeldt RM, East JS, Stone EM, Sohn EH. Phenotypic Variation in a Family With Pseudodominant Stargardt Disease. Jama Ophthalmology. PMID 27030965 DOI: 10.1001/jamaophthalmol.2015.5471  0.92
2016 Shankar SP, Hughbanks-Wheaton DK, Birch DG, Sullivan LS, Conneely KN, Bowne SJ, Stone EM, Daiger SP. 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: 349-59. PMID 26842753 DOI: 10.1167/iovs.15-16965  0.92
2015 Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M. Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. Molecular Genetics and Metabolism. PMID 26750748 DOI: 10.1016/j.ymgme.2015.12.009  0.92
2015 Songstad AE, Wiley LA, Duong K, Kaalberg E, Flamme-Wiese MJ, Cranston CM, Riker MJ, Levasseur D, Stone EM, Mullins RF, Tucker BA. Generating iPSC-Derived Choroidal Endothelial Cells to Study Age-Related Macular Degeneration. Investigative Ophthalmology & Visual Science. 56: 8258-67. PMID 26720480 DOI: 10.1167/iovs.15-17073  0.92
2015 Kucukevcilioglu M, Patel CB, Stone EM, Russell SR. Clinically detectable drusen domains in fibulin-5-associated age-related macular degeneration (AMD) : Drusen subdomains in fibulin-5 AMD. International Ophthalmology. PMID 26694911 DOI: 10.1007/s10792-015-0164-5  0.92
2015 Giacalone JC, Wiley LA, Burnight ER, Songstad AE, Mullins RF, Stone EM, Tucker BA. Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye Disease. Stem Cells Translational Medicine. PMID 26683869 DOI: 10.5966/sctm.2015-0206  0.92
2015 Zeng S, Whitmore SS, Sohn EH, Riker MJ, Wiley LA, Scheetz TE, Stone EM, Tucker BA, Mullins RF. Molecular Response of Chorioretinal Endothelial Cells to Complement Injury: Implications for Macular Degeneration. The Journal of Pathology. PMID 26564985 DOI: 10.1002/path.4669  0.92
2015 Collison FT, Park JC, Fishman GA, McAnany JJ, Stone EM. Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis Patients. Investigative Ophthalmology & Visual Science. 56: 7130-6. PMID 26529047 DOI: 10.1167/iovs.15-17467  0.92
2015 Small KW, DeLuca AP, Whitmore SS, Rosenberg T, Silva-Garcia R, Udar N, Puech B, Garcia CA, Rice TA, Fishman GA, Héon E, Folk JC, Streb LM, Haas CM, Wiley LA, ... ... Stone EM, et al. North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13. Ophthalmology. PMID 26507665 DOI: 10.1016/j.ophtha.2015.10.006  0.92
2015 DeLuca AP, Whitmore SS, Barnes J, Sharma TP, Westfall TA, Scott CA, Weed MC, Wiley JS, Wiley LA, Johnston RM, Schnieders MJ, Lentz SR, Tucker BA, Mullins RF, Scheetz TE, ... Stone EM, et al. Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. Human Molecular Genetics. PMID 26494905 DOI: 10.1093/hmg/ddv446  0.92
2015 Khorram D, Choi M, Roos BR, Stone EM, Kopel T, Allen R, Alward WL, Scheetz TE, Fingert JH. Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos. Molecular Vision. 21: 1017-23. PMID 26392740  0.92
2015 Cideciyan AV, Swider M, Schwartz SB, Stone EM, Jacobson SG. Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front. Investigative Ophthalmology & Visual Science. 56: 5946-55. PMID 26377081 DOI: 10.1167/iovs.15-17698  0.92
2015 Chirco KR, Tucker BA, Stone EM, Mullins RF. Selective accumulation of the complement membrane attack complex in aging choriocapillaris. Experimental Eye Research. PMID 26368849 DOI: 10.1016/j.exer.2015.09.003  0.92
2015 Tucker BA, Cranston CM, Anfinson KA, Shrestha S, Streb LM, Leon A, Mullins RF, Stone EM. Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial. Translational Research : the Journal of Laboratory and Clinical Medicine. PMID 26364624 DOI: 10.1016/j.trsl.2015.08.007  0.92
2015 Zode GS, Kuehn MH, Nishimura DY, Searby CC, Mohan K, Grozdanic SD, Bugge K, Anderson MG, Clark AF, Stone EM, Sheffield VC. Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma. The Journal of Clinical Investigation. 125: 3303. PMID 26237042 DOI: 10.1172/JCI82799  0.92
2015 Sohn EH, Jiao C, Kaalberg E, Cranston C, Mullins RF, Stone EM, Tucker BA. Allogenic iPSC-derived RPE cell transplants induce immune response in pigs: a pilot study. Scientific Reports. 5: 11791. PMID 26138532 DOI: 10.1038/srep11791  0.92
2015 Drivas TG, Wojno AP, Tucker BA, Stone EM, Bennett J. Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis. Science Translational Medicine. 7: 291ra97. PMID 26062849 DOI: 10.1126/scitranslmed.aaa5370  0.92
2015 DeLuca AP, Weed MC, Haas CM, Halder JA, Stone EM. Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness. Jama Ophthalmology. PMID 26022370 DOI: 10.1001/jamaophthalmol.2015.1463  0.92
2015 Stone EM. Genetic testing for age-related macular degeneration: not indicated now. Jama Ophthalmology. 133: 598-600. PMID 25789813 DOI: 10.1001/jamaophthalmol.2015.0369  0.92
2015 Mears K, Bakall B, Harney LA, Penticoff JA, Stone EM. Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11. Jama Ophthalmology. 133: 720-1. PMID 25764055 DOI: 10.1001/jamaophthalmol.2015.199  0.92
2015 Zhang N, Tsybovsky Y, Kolesnikov AV, Rozanowska M, Swider M, Schwartz SB, Stone EM, Palczewska G, Maeda A, Kefalov VJ, Jacobson SG, Cideciyan AV, Palczewski K. Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations. Human Molecular Genetics. 24: 3220-37. PMID 25712131 DOI: 10.1093/hmg/ddv073  0.92
2015 Shankar SP, Birch DG, Ruiz RS, Hughbanks-Wheaton DK, Sullivan LS, Bowne SJ, Stone EM, Daiger SP. Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies. Jama Ophthalmology. 133: 511-7. PMID 25675413 DOI: 10.1001/jamaophthalmol.2014.6115  0.92
2015 Hazlewood RJ, Roos BR, Solivan-Timpe F, Honkanen RA, Jampol LM, Gieser SC, Meyer KJ, Mullins RF, Kuehn MH, Scheetz TE, Kwon YH, Alward WL, Stone EM, Fingert JH. Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly. Human Mutation. 36: 369-78. PMID 25581579 DOI: 10.1002/humu.22754  0.92
2015 Almeida DR, Zhang L, Chin EK, Mullins RF, Kucukevcilioglu M, Critser DB, Sonka M, Stone EM, Folk JC, Abràmoff MD, Russell SR. Comparison of retinal and choriocapillaris thicknesses following sitting to supine transition in healthy individuals and patients with age-related macular degeneration. Jama Ophthalmology. 133: 297-303. PMID 25521616 DOI: 10.1001/jamaophthalmol.2014.5168  0.92
2015 Wiley LA, Burnight ER, Mullins RF, Stone EM, Tucker BA. Stem cells as tools for studying the genetics of inherited retinal degenerations. Cold Spring Harbor Perspectives in Medicine. 5: a017160. PMID 25502747 DOI: 10.1101/cshperspect.a017160  0.92
2015 Whitmore SS, Sohn EH, Chirco KR, Drack AV, Stone EM, Tucker BA, Mullins RF. Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy. Progress in Retinal and Eye Research. 45: 1-29. PMID 25486088 DOI: 10.1016/j.preteyeres.2014.11.005  0.92
2015 Wiley LA, Burnight ER, Songstad AE, Drack AV, Mullins RF, Stone EM, Tucker BA. 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 DOI: 10.1016/j.preteyeres.2014.10.002  0.92
2015 Burnight ER, Wiley LA, Mullins RF, Stone EM, Tucker BA. Gene therapy using stem cells. Cold Spring Harbor Perspectives in Medicine. 5. PMID 25395375 DOI: 10.1101/cshperspect.a017434  0.92
2015 Bax NM, Sangermano R, Roosing S, Thiadens AA, Hoefsloot LH, van den Born LI, Phan M, Klevering BJ, Westeneng-van Haaften C, Braun TA, Zonneveld-Vrieling MN, de Wijs I, Mutlu M, Stone EM, den Hollander AI, et al. Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant. Human Mutation. 36: 43-7. PMID 25363634 DOI: 10.1002/humu.22717  0.92
2015 Stunkel M, Bhattarai S, Kemerley A, Stone EM, Wang K, Mullins RF, Drack AV. Vitritis in pediatric genetic retinal disorders. Ophthalmology. 122: 192-9. PMID 25217415 DOI: 10.1016/j.ophtha.2014.07.037  0.92
2015 Sohn EH, Wang K, Thompson S, Riker MJ, Hoffmann JM, Stone EM, Mullins RF. Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration. Retina (Philadelphia, Pa.). 35: 48-57. PMID 25077532 DOI: 10.1097/IAE.0000000000000263  0.92
2015 Zode GS, Kuehn MH, Nishimura DY, Searby CC, Mohan K, Grozdanic SD, Bugge K, Anderson MG, Clark AF, Stone EM, Sheffield VC. Corrigendum: Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma (J Clin Investigation (2011) 121, 9 (3542-3553) DOI: 10.1172/JCI82799) Journal of Clinical Investigation. 125: 3303. DOI: 10.1172/JCI82799  0.92
2014 Whitmore SS, Wagner AH, DeLuca AP, Drack AV, Stone EM, Tucker BA, Zeng S, Braun TA, Mullins RF, Scheetz TE. 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 DOI: 10.1016/j.exer.2014.11.001  0.92
2014 Abràmoff MD, Mullins RF, Stone EM. Outer segment length in different best disease genotypes. Jama Ophthalmology. 132: 1152-3. PMID 25210991 DOI: 10.1001/jamaophthalmol.2014.2980  0.92
2014 Mullins RF, Schoo DP, Sohn EH, Flamme-Wiese MJ, Workamelahu G, Johnston RM, Wang K, Tucker BA, Stone EM. The membrane attack complex in aging human choriocapillaris: relationship to macular degeneration and choroidal thinning. The American Journal of Pathology. 184: 3142-53. PMID 25204844 DOI: 10.1016/j.ajpath.2014.07.017  0.92
2014 Jacobson SG, Cideciyan AV, Huang WC, Sumaroka A, Roman AJ, Schwartz SB, Luo X, Sheplock R, Dauber JM, Swider M, Stone EM. TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones. Investigative Ophthalmology & Visual Science. 55: 5354-64. PMID 25074776 DOI: 10.1167/iovs.14-14570  0.92
2014 Burnight ER, Wiley LA, Drack AV, Braun TA, Anfinson KR, Kaalberg EE, Halder JA, Affatigato LM, Mullins RF, Stone EM, Tucker BA. CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype. Gene Therapy. 21: 662-72. PMID 24807808 DOI: 10.1038/gt.2014.39  0.92
2014 Kim MJ, Frausto RF, Rosenwasser GO, Bui T, Le DJ, Stone EM, Aldave AJ. Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12. Plos One. 9: e95037. PMID 24759697 DOI: 10.1371/journal.pone.0095037  0.92
2014 Boye SE, Huang WC, Roman AJ, Sumaroka A, Boye SL, Ryals RC, Olivares MB, Ruan Q, Tucker BA, Stone EM, Swaroop A, Cideciyan AV, Hauswirth WW, Jacobson SG. 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: e92928. PMID 24671090 DOI: 10.1371/journal.pone.0092928  0.92
2014 Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, ... ... Stone EM, et al. 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: R53. PMID 24667040 DOI: 10.1186/gb-2014-15-3-r53  0.92
2014 Mullins RF, Khanna A, Schoo DP, Tucker BA, Sohn EH, Drack AV, Stone EM. Is age-related macular degeneration a microvascular disease? Advances in Experimental Medicine and Biology. 801: 283-9. PMID 24664709 DOI: 10.1007/978-1-4614-3209-8_36  0.92
2014 Tucker BA, Mullins RF, Stone EM. Stem cells for investigation and treatment of inherited retinal disease. Human Molecular Genetics. 23: R9-R16. PMID 24647603 DOI: 10.1093/hmg/ddu124  0.92
2014 Worthington KS, Wiley LA, Bartlett AM, Stone EM, Mullins RF, Salem AK, Guymon CA, Tucker BA. Mechanical properties of murine and porcine ocular tissues in compression. Experimental Eye Research. 121: 194-9. PMID 24613781 DOI: 10.1016/j.exer.2014.02.020  0.92
2014 Thompson S, Blodi FR, Lee S, Welder CR, Mullins RF, Tucker BA, Stasheff SF, Stone EM. Photoreceptor cells with profound structural deficits can support useful vision in mice. Investigative Ophthalmology & Visual Science. 55: 1859-66. PMID 24569582 DOI: 10.1167/iovs.13-13661  0.92
2014 Huang WC, Cideciyan AV, Roman AJ, Sumaroka A, Sheplock R, Schwartz SB, Stone EM, Jacobson SG. Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations. Investigative Ophthalmology & Visual Science. 55: 1810-22. PMID 24550365 DOI: 10.1167/iovs.13-13768  0.92
2014 Sohn EH, Khanna A, Tucker BA, Abràmoff MD, Stone EM, Mullins RF. Structural and biochemical analyses of choroidal thickness in human donor eyes. Investigative Ophthalmology & Visual Science. 55: 1352-60. PMID 24519422 DOI: 10.1167/iovs.13-13754  0.92
2014 Chun R, Fishman GA, Collison FT, Stone EM, Zernant J, Allikmets R. The value of retinal imaging with infrared scanning laser ophthalmoscopy in patients with stargardt disease. Retina (Philadelphia, Pa.). 34: 1391-9. PMID 24317291 DOI: 10.1097/IAE.0000000000000070  0.92
2014 Zhang Y, Seo S, Bhattarai S, Bugge K, Searby CC, Zhang Q, Drack AV, Stone EM, Sheffield VC. BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Human Molecular Genetics. 23: 40-51. PMID 23943788 DOI: 10.1093/hmg/ddt394  0.92
2014 Collison FT, Genead MA, Fishman GA, Stone EM. Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide. Ophthalmic Genetics. 35: 125-7. PMID 23514609 DOI: 10.3109/13816810.2013.779383  0.92
2013 Cunningham MA, Boldt HC, Stone EM. Retinal detachment in a patient with leber congenital amaurosis. Retinal Cases & Brief Reports. 7: 102-4. PMID 25390536 DOI: 10.1097/ICB.0b013e31827539a2  0.92
2013 Whitmore SS, Braun TA, Skeie JM, Haas CM, Sohn EH, Stone EM, Scheetz TE, Mullins RF. Altered gene expression in dry age-related macular degeneration suggests early loss of choroidal endothelial cells. Molecular Vision. 19: 2274-97. PMID 24265543  0.92
2013 Fujinami K, Lois N, Mukherjee R, McBain VA, Tsunoda K, Tsubota K, Stone EM, Fitzke FW, Bunce C, Moore AT, Webster AR, Michaelides M. A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations. Investigative Ophthalmology & Visual Science. 54: 8181-90. PMID 24265018 DOI: 10.1167/iovs.13-12104  0.92
2013 Stone EM, Aldave AJ, Drack AV, MacCumber MW, Sheffield VC, Traboulsi E, Weleber RG. Author reply: To PMID 22944025. Ophthalmology. 120: e73. PMID 24090960 DOI: 10.1016/j.ophtha.2013.07.008  0.92
2013 Tucker BA, Mullins RF, Streb LM, Anfinson K, Eyestone ME, Kaalberg E, Riker MJ, Drack AV, Braun TA, Stone EM. Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa. Elife. 2: e00824. PMID 23991284 DOI: 10.7554/eLife.00824  0.92
2013 Braun TA, Mullins RF, Wagner AH, Andorf JL, Johnston RM, Bakall BB, Deluca AP, Fishman GA, Lam BL, Weleber RG, Cideciyan AV, Jacobson SG, Sheffield VC, Tucker BA, Stone EM. Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. Human Molecular Genetics. 22: 5136-45. PMID 23918662 DOI: 10.1093/hmg/ddt367  0.92
2013 Seo S, Mullins RF, Dumitrescu AV, Bhattarai S, Gratie D, Wang K, Stone EM, Sheffield V, Drack AV. Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1. Investigative Ophthalmology & Visual Science. 54: 6118-32. PMID 23900607 DOI: 10.1167/iovs.13-11673  0.92
2013 Bakall B, Folk JC, Boldt HC, Sohn EH, Stone EM, Russell SR, Mahajan VB. Aflibercept therapy for exudative age-related macular degeneration resistant to bevacizumab and ranibizumab. American Journal of Ophthalmology. 156: 15-22.e1. PMID 23706500 DOI: 10.1016/j.ajo.2013.02.017  0.92
2013 Abràmoff MD, Mullins RF, Lee K, Hoffmann JM, Sonka M, Critser DB, Stasheff SF, Stone EM. Human photoreceptor outer segments shorten during light adaptation. Investigative Ophthalmology & Visual Science. 54: 3721-8. PMID 23633665 DOI: 10.1167/iovs.13-11812  0.92
2013 Zhang Q, Nishimura D, Vogel T, Shao J, Swiderski R, Yin T, Searby C, Carter CS, Kim G, Bugge K, Stone EM, Sheffield VC. BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking. Journal of Cell Science. 126: 2372-80. PMID 23572516 DOI: 10.1242/jcs.111740  0.92
2013 Scheetz TE, Fingert JH, Wang K, Kuehn MH, Knudtson KL, Alward WL, Boldt HC, Russell SR, Folk JC, Casavant TL, Braun TA, Clark AF, Stone EM, Sheffield VC. A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci. Plos One. 8: e58657. PMID 23536807 DOI: 10.1371/journal.pone.0058657  0.92
2013 Wagner AH, Taylor KR, DeLuca AP, Casavant TL, Mullins RF, Stone EM, Scheetz TE, Braun TA. Prioritization of retinal disease genes: an integrative approach. Human Mutation. 34: 853-9. PMID 23508994 DOI: 10.1002/humu.22317  0.92
2013 Fujinami K, Lois N, Davidson AE, Mackay DS, Hogg CR, Stone EM, Tsunoda K, Tsubota K, Bunce C, Robson AG, Moore AT, Webster AR, Holder GE, Michaelides M. A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations. American Journal of Ophthalmology. 155: 1075-1088.e13. PMID 23499370 DOI: 10.1016/j.ajo.2013.01.018  0.92
2013 McAnany JJ, Genead MA, Walia S, Drack AV, Stone EM, Koenekoop RK, Traboulsi EI, Smith A, Weleber RG, Jacobson SG, Fishman GA. Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290. Jama Ophthalmology. 131: 178-82. PMID 23411883 DOI: 10.1001/2013.jamaophthalmol.354  0.92
2013 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 AI, Edelson C, ... ... Stone E, et al. 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: e51622. PMID 23308101 DOI: 10.1371/journal.pone.0051622  0.92
2013 Seo S, Solivan-Timpe F, Roos BR, Robin AL, Stone EM, Kwon YH, Alward WL, Fingert JH. Identification of proteins that interact with TANK binding kinase 1 and testing for mutations associated with glaucoma. Current Eye Research. 38: 310-5. PMID 23286385 DOI: 10.3109/02713683.2012.754047  0.92
2013 Tucker BA, Anfinson KR, Mullins RF, Stone EM, Young MJ. Use of a synthetic xeno-free culture substrate for induced pluripotent stem cell induction and retinal differentiation. Stem Cells Translational Medicine. 2: 16-24. PMID 23283489 DOI: 10.5966/sctm.2012-0040  0.92
2013 Jacobson SG, Cideciyan AV, Peshenko IV, Sumaroka A, Olshevskaya EV, Cao L, Schwartz SB, Roman AJ, Olivares MB, Sadigh S, Yau KW, Heon E, Stone EM, Dizhoor AM. 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: 168-83. PMID 23035049 DOI: 10.1093/hmg/dds421  0.92
2013 Gregori NZ, Lam BL, Gregori G, Ranganathan S, Stone EM, Morante A, Abukhalil F, Aroucha PR. Wide-field spectral-domain optical coherence tomography in patients and carriers of X-linked retinoschisis. Ophthalmology. 120: 169-74. PMID 23009889 DOI: 10.1016/j.ophtha.2012.07.051  0.92
2013 Stamler JF, Roos BR, Wagoner MD, Goins KM, Kitzmann AS, Riley JB, Stone EM, Fingert JH. Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States. Ophthalmic Genetics. 34: 32-4. PMID 22998502 DOI: 10.3109/13816810.2012.726396  0.92
2013 Tucker BA, Mullins RF, Streb LM, Anfnson K, Eyestone ME, Kaalberg E, Riker MJ, Drack AV, Braun TA, Stone EM. Patient-specifc iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa Elife. 2013. DOI: 10.7554/eLife.00824.001  0.92
2012 Skeie JM, Brown EN, Martinez HD, Russell SR, Birkholz ES, Folk JC, Boldt HC, Gehrs KM, Stone EM, Wright ME, Mahajan VB. Proteomic analysis of vitreous biopsy techniques. Retina (Philadelphia, Pa.). 32: 2141-9. PMID 23095728 DOI: 10.1097/IAE.0b013e3182562017  0.92
2012 Mahajan VB, Skeie JM, Bassuk AG, Fingert JH, Braun TA, Daggett HT, Folk JC, Sheffield VC, Stone EM. Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. Plos Genetics. 8: e1003001. PMID 23055945 DOI: 10.1371/journal.pgen.1003001  0.92
2012 Godara P, Cooper RF, Sergouniotis PI, Diederichs MA, Streb MR, Genead MA, McAnany JJ, Webster AR, Moore AT, Dubis AM, Neitz M, Dubra A, Stone EM, Fishman GA, Han DP, et al. Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease. American Journal of Ophthalmology. 154: 987-1001.e1. PMID 22959359 DOI: 10.1016/j.ajo.2012.06.003  0.92
2012 Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, Weleber RG. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology. 119: 2408-10. PMID 22944025 DOI: 10.1016/j.ophtha.2012.05.047  0.92
2012 Cox KF, Kerr NC, Kedrov M, Nishimura D, Jennings BJ, Stone EM, Sheffield VC, Iannaccone A. 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 DOI: 10.1016/j.visres.2012.08.005  0.92
2012 Davis AS, Folk JC, Russell SR, Sohn EH, Sohn EH, Boldt HC, Stone EM, Mahajan VB. Intravitreal bevacizumab for peripapillary choroidal neovascular membranes. Archives of Ophthalmology (Chicago, Ill. : 1960). 130: 1073-5. PMID 22893085 DOI: 10.1001/archophthalmol.2012.465  0.92
2012 Fingert JH, Roos BR, Solivan-Timpe F, Miller KA, Oetting TA, Wang K, Kwon YH, Scheetz TE, Stone EM, Alward WL. Analysis of ASB10 variants in open angle glaucoma. Human Molecular Genetics. 21: 4543-8. PMID 22798626 DOI: 10.1093/hmg/dds288  0.92
2012 Tlucek PS, Folk JC, Orien JA, Stone EM, Mahajan VB. Inhibition of neovascularization but not fibrosis with the fluocinolone acetonide implant in autosomal dominant neovascular inflammatory vitreoretinopathy. Archives of Ophthalmology (Chicago, Ill. : 1960). 130: 1395-401. PMID 22777573 DOI: 10.1001/archophthalmol.2012.1971  0.92
2012 Mao M, Solivan-Timpe F, Roos BR, Mullins RF, Oetting TA, Kwon YH, Brzeskiewicz PM, Stone EM, Alward WL, Anderson MG, Fingert JH. Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma. Molecular Vision. 18: 705-13. PMID 22509100  0.92
2012 Zhang Q, Yu D, Seo S, Stone EM, Sheffield VC. Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. The Journal of Biological Chemistry. 287: 20625-35. PMID 22500027 DOI: 10.1074/jbc.M112.341487  0.92
2012 Mullins RF, Kuehn MH, Radu RA, Enriquez GS, East JS, Schindler EI, Travis GH, Stone EM. Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization. Investigative Ophthalmology & Visual Science. 53: 1883-94. PMID 22395892 DOI: 10.1167/iovs.12-9477  0.92
2012 Zode GS, Bugge KE, Mohan K, Grozdanic SD, Peters JC, Koehn DR, Anderson MG, Kardon RH, Stone EM, Sheffield VC. Topical ocular sodium 4-phenylbutyrate rescues glaucoma in a myocilin mouse model of primary open-angle glaucoma. Investigative Ophthalmology & Visual Science. 53: 1557-65. PMID 22328638 DOI: 10.1167/iovs.11-8837  0.92
2012 Cideciyan AV, Swider M, Aleman TS, Feuer WJ, Schwartz SB, Russell RC, Steinberg JD, Stone EM, Jacobson SG. Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials. Investigative Ophthalmology & Visual Science. 53: 841-52. PMID 22247458 DOI: 10.1167/iovs.11-8415  0.92
2012 Zhang Q, Seo S, Bugge K, Stone EM, Sheffield VC. BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Human Molecular Genetics. 21: 1945-53. PMID 22228099 DOI: 10.1093/hmg/dds004  0.92
2012 Drack AV, Dumitrescu AV, Bhattarai S, Gratie D, Stone EM, Mullins R, Sheffield VC. TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice. Investigative Ophthalmology & Visual Science. 53: 100-6. PMID 22110077 DOI: 10.1167/iovs.11-8544  0.92
2012 Kay CN, Abramoff MD, Mullins RF, Kinnick TR, Lee K, Eyestone ME, Chung MM, Sohn EH, Stone EM. 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 (Chicago, Ill. : 1960). 130: 357-64. PMID 22084158 DOI: 10.1001/archophthalmol.2011.363  0.92
2012 Jacobson SG, Cideciyan AV, Ratnakaram R, Heon E, Schwartz SB, Roman AJ, Peden MC, Aleman TS, Boye SL, Sumaroka A, Conlon TJ, Calcedo R, Pang JJ, Erger KE, Olivares MB, ... ... Stone EM, et al. 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 (Chicago, Ill. : 1960). 130: 9-24. PMID 21911650 DOI: 10.1001/archophthalmol.2011.298  0.92
2012 Sohn EH, Mullins RF, Stone EM. Macular Dystrophies Retina Fifth Edition. 2: 852-890. DOI: 10.1016/B978-1-4557-0737-9.00042-4  0.92
2012 Kimberling WJ, Möller C, Stone EM, Andorf J, Drack A, Smith RJH. Approaches to the treatment of usher syndrome Usher Syndrome: Pathogenesis, Diagnosis and Therapy. 249-262.  0.92
2011 Zhang Q, Nishimura D, Seo S, Vogel T, Morgan DA, Searby C, Bugge K, Stone EM, Rahmouni K, Sheffield VC. 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: 20678-83. PMID 22139371 DOI: 10.1073/pnas.1113220108  0.92
2011 Stone EM, Luo X, Héon E, Lam BL, Weleber RG, Halder JA, Affatigato LM, Goldberg JB, Sumaroka A, Schwartz SB, Cideciyan AV, Jacobson SG. Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene. Investigative Ophthalmology & Visual Science. 52: 9665-73. PMID 22110072 DOI: 10.1167/iovs.11-8527  0.92
2011 Quellec G, Russell SR, Seddon JM, Reynolds R, Scheetz T, Mahajan VB, Stone EM, Abràmoff MD. Automated discovery and quantification of image-based complex phenotypes: a twin study of drusen phenotypes in age-related macular degeneration. Investigative Ophthalmology & Visual Science. 52: 9195-206. PMID 22039249 DOI: 10.1167/iovs.10-6793  0.92
2011 Pennesi ME, Stover NB, Stone EM, Chiang PW, Weleber RG. Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1. Investigative Ophthalmology & Visual Science. 52: 8166-73. PMID 21900377 DOI: 10.1167/iovs.11-8298  0.92
2011 Tucker BA, Scheetz TE, Mullins RF, DeLuca AP, Hoffmann JM, Johnston RM, Jacobson SG, Sheffield VC, Stone EM. Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. Proceedings of the National Academy of Sciences of the United States of America. 108: E569-76. PMID 21825139 DOI: 10.1073/pnas.1108918108  0.92
2011 Zode GS, Kuehn MH, Nishimura DY, Searby CC, Mohan K, Grozdanic SD, Bugge K, Anderson MG, Clark AF, Stone EM, Sheffield VC. Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma. The Journal of Clinical Investigation. 121: 3542-53. PMID 21821918 DOI: 10.1172/JCI58183  0.92
2011 Genead MA, Fishman GA, Rha J, Dubis AM, Bonci DM, Dubra A, Stone EM, Neitz M, Carroll J. Photoreceptor structure and function in patients with congenital achromatopsia. Investigative Ophthalmology & Visual Science. 52: 7298-308. PMID 21778272 DOI: 10.1167/iovs.11-7762  0.92
2011 Aleman TS, Cideciyan AV, Aguirre GK, Huang WC, Mullins CL, Roman AJ, Sumaroka A, Olivares MB, Tsai FF, Schwartz SB, Vandenberghe LH, Limberis MP, Stone EM, Bell P, Wilson JM, et al. Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model. Investigative Ophthalmology & Visual Science. 52: 6898-910. PMID 21757580 DOI: 10.1167/iovs.11-7701  0.92
2011 Mullins RF, Dewald AD, Streb LM, Wang K, Kuehn MH, Stone EM. Elevated membrane attack complex in human choroid with high risk complement factor H genotypes. Experimental Eye Research. 93: 565-7. PMID 21729696 DOI: 10.1016/j.exer.2011.06.015  0.92
2011 Sheffield VC, Stone EM. Genomics and the eye. The New England Journal of Medicine. 364: 1932-42. PMID 21591945 DOI: 10.1056/NEJMra1012354  0.92
2011 Mullins RF, Skeie JM, Folk JC, Solivan-Timpe FM, Oetting TA, Huang J, Wang K, Stone EM, Fingert JH. Evaluation of variants in the selectin genes in age-related macular degeneration. Bmc Medical Genetics. 12: 58. PMID 21521525 DOI: 10.1186/1471-2350-12-58  0.92
2011 Ko AC, Brinton JP, Mahajan VB, Zimmerman B, Brinton GS, Stone EM, Folk JC, Mullins RF. Seroreactivity against aqueous-soluble and detergent-soluble retinal proteins in posterior uveitis. Archives of Ophthalmology (Chicago, Ill. : 1960). 129: 415-20. PMID 21482867 DOI: 10.1001/archophthalmol.2011.65  0.92
2011 Fingert JH, Robin AL, Stone JL, Roos BR, Davis LK, Scheetz TE, Bennett SR, Wassink TH, Kwon YH, Alward WL, Mullins RF, Sheffield VC, Stone EM. Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Human Molecular Genetics. 20: 2482-94. PMID 21447600 DOI: 10.1093/hmg/ddr123  0.92
2011 Kuehn MH, Wang K, Roos B, Stone EM, Kwon YH, Alward WL, Mullins RF, Fingert JH. Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort. Molecular Vision. 17: 430-5. PMID 21321670  0.92
2011 Iannaccone A, Kerr NC, Kinnick TR, Calzada JI, Stone EM. Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications. Archives of Ophthalmology (Chicago, Ill. : 1960). 129: 211-7. PMID 21320969 DOI: 10.1001/archophthalmol.2010.367  0.92
2011 Davis LK, Meyer KJ, Schindler EI, Beck JS, Rudd DS, Grundstad AJ, Scheetz TE, Braun TA, Fingert JH, Alward WL, Kwon YH, Folk JC, Russell SR, Wassink TH, Sheffield VC, ... Stone EM, et al. Copy number variations and primary open-angle glaucoma. Investigative Ophthalmology & Visual Science. 52: 7122-33. PMID 21310917 DOI: 10.1167/iovs.10-5606  0.92
2011 Quellec G, Russell SR, Scheetz TE, Stone EM, Abràmoff MD. Computational quantification of complex fundus phenotypes in age-related macular degeneration and Stargardt disease. Investigative Ophthalmology & Visual Science. 52: 2976-81. PMID 21310908 DOI: 10.1167/iovs.10-6232  0.92
2011 Kinnick TR, Mullins RF, Dev S, Leys M, Mackey DA, Kay CN, Lam BL, Fishman GA, Traboulsi E, Iezzi R, Stone EM. Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. Retina (Philadelphia, Pa.). 31: 581-95. PMID 21273940 DOI: 10.1097/IAE.0b013e318203ee60  0.92
2011 Baye LM, Patrinostro X, Swaminathan S, Beck JS, Zhang Y, Stone EM, Sheffield VC, Slusarski DC. The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness. Human Molecular Genetics. 20: 1467-77. PMID 21257638 DOI: 10.1093/hmg/ddr025  0.92
2011 Cideciyan AV, Rachel RA, Aleman TS, Swider M, Schwartz SB, Sumaroka A, Roman AJ, Stone EM, Jacobson SG, Swaroop A. 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: 1411-23. PMID 21245082 DOI: 10.1093/hmg/ddr022  0.92
2011 Stone EM, Cideciyan AV, Aleman TS, Scheetz TE, Sumaroka A, Ehlinger MA, Schwartz SB, Fishman GA, Traboulsi EI, Lam BL, Fulton AB, Mullins RF, Sheffield VC, Jacobson SG. Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Archives of Ophthalmology (Chicago, Ill. : 1960). 129: 81-7. PMID 21220633 DOI: 10.1001/archophthalmol.2010.330  0.92
2011 Mahajan VB, Elkins KA, Russell SR, Boldt HC, Gehrs KM, Weingeist TA, Stone EM, Abràmoff MD, Liu D, Folk JC. Bilateral intravitreal injection of antivascular endothelial growth factor therapy. Retina (Philadelphia, Pa.). 31: 31-5. PMID 21187731 DOI: 10.1097/IAE.0b013e3181ed8c80  0.92
2011 Meyer KJ, Davis LK, Schindler EI, Beck JS, Rudd DS, Grundstad AJ, Scheetz TE, Braun TA, Fingert JH, Alward WL, Kwon YH, Folk JC, Russell SR, Wassink TH, Stone EM, et al. Genome-wide analysis of copy number variants in age-related macular degeneration. Human Genetics. 129: 91-100. PMID 20981449 DOI: 10.1007/s00439-010-0904-6  0.92
2011 Thompson S, Stasheff SF, Hernandez J, Nylen E, East JS, Kardon RH, Pinto LH, Mullins RF, Stone EM. Different inner retinal pathways mediate rod-cone input in irradiance detection for the pupillary light reflex and regulation of behavioral state in mice. Investigative Ophthalmology & Visual Science. 52: 618-23. PMID 20847113 DOI: 10.1167/iovs.10-6146  0.92
2011 Weleber RG, Michaelides M, Trzupek KM, Stover NB, Stone EM. The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis. Investigative Ophthalmology & Visual Science. 52: 292-302. PMID 20811047 DOI: 10.1167/iovs.10-6106  0.92
2011 Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Swider M, Schwartz SB, Banin E, Stone EM. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining. Investigative Ophthalmology & Visual Science. 52: 70-9. PMID 20702822 DOI: 10.1167/iovs.10-6127  0.92
2011 DeLuca AP, Wagner AH, Taylor KR, Faga B, Thole D, Sheffield VC, Stone EM, Casavant TL, Scheetz TE, Braun TA. Sequencing and disease variation detection tools and techniques Proceedings of Ieee/Acs International Conference On Computer Systems and Applications, Aiccsa. 80-83. DOI: 10.1109/AICCSA.2011.6126607  0.92
2010 Rosenberg T, Roos B, Johnsen T, Bech N, Scheetz TE, Larsen M, Stone EM, Fingert JH. Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy. Molecular Vision. 16: 2659-68. PMID 21179233  0.92
2010 Ko AC, Hernández J, Brinton JP, Faidley EA, Mugge SA, Mets MB, Kardon RH, Folk JC, Mullins RF, Stone EM. Anti-γ-enolase autoimmune retinopathy manifesting in early childhood. Archives of Ophthalmology (Chicago, Ill. : 1960). 128: 1590-5. PMID 21149784 DOI: 10.1001/archophthalmol.2010.295  0.92
2010 Thompson S, Recober A, Vogel TW, Kuburas A, Owens JA, Sheffield VC, Russo AF, Stone EM. Light aversion in mice depends on nonimage-forming irradiance detection. Behavioral Neuroscience. 124: 821-7. PMID 21038932 DOI: 10.1037/a0021568  0.92
2010 Folk JC, Stone EM. Ranibizumab therapy for neovascular age-related macular degeneration. The New England Journal of Medicine. 363: 1648-55. PMID 20961248 DOI: 10.1056/NEJMct1000495  0.92
2010 Sapp JC, Nishimura D, Johnston JJ, Stone EM, Héon E, Sheffield VC, Biesecker LG. Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 12: 623-7. PMID 20949666 DOI: 10.1097/GIM.0b013e3181f07572  0.92
2010 Mahajan VB, Stone EM. Patients with an acute zonal occult outer retinopathy-like illness rapidly improve with valacyclovir treatment. American Journal of Ophthalmology. 150: 511-8. PMID 20691421 DOI: 10.1016/j.ajo.2010.05.024  0.92
2010 Schindler EI, Nylen EL, Ko AC, Affatigato LM, Heggen AC, Wang K, Sheffield VC, Stone EM. Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population. Human Molecular Genetics. 19: 3693-701. PMID 20647261 DOI: 10.1093/hmg/ddq284  0.92
2010 Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, Cohn ES, Weleber RG, Stone EM, Smith RJ. Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 12: 512-6. PMID 20613545 DOI: 10.1097/GIM.0b013e3181e5afb8  0.92
2010 Mahajan VB, Vallone JG, Lin JH, Mullins RF, Ko AC, Folk JC, Stone EM. T-cell infiltration in autosomal dominant neovascular inflammatory vitreoretinopathy. Molecular Vision. 16: 1034-40. PMID 20596252  0.92
2010 Nichols LL, Alur RP, Boobalan E, Sergeev YV, Caruso RC, Stone EM, Swaroop A, Johnson MA, Brooks BP. Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL. Human Mutation. 31: E1472-83. PMID 20513135 DOI: 10.1002/humu.21268  0.92
2010 Thompson S, Whiting RE, Kardon RH, Stone EM, Narfström K. Effects of hereditary retinal degeneration due to a CEP290 mutation on the feline pupillary light reflex. Veterinary Ophthalmology. 13: 151-7. PMID 20500714 DOI: 10.1111/j.1463-5224.2010.00772.x  0.92
2010 Skeie JM, Fingert JH, Russell SR, Stone EM, Mullins RF. Complement component C5a activates ICAM-1 expression on human choroidal endothelial cells. Investigative Ophthalmology & Visual Science. 51: 5336-42. PMID 20484595 DOI: 10.1167/iovs.10-5322  0.92
2010 Nishimura DY, Baye LM, Perveen R, Searby CC, Avila-Fernandez A, Pereiro I, Ayuso C, Valverde D, Bishop PN, Manson FD, Urquhart J, Stone EM, Slusarski DC, Black GC, Sheffield VC. Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. American Journal of Human Genetics. 86: 686-95. PMID 20398886 DOI: 10.1016/j.ajhg.2010.03.005  0.92
2010 Pretorius PR, Baye LM, Nishimura DY, Searby CC, Bugge K, Yang B, Mullins RF, Stone EM, Sheffield VC, Slusarski DC. Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform. Plos Genetics. 6: e1000884. PMID 20333246 DOI: 10.1371/journal.pgen.1000884  0.92
2010 Lin P, Shankar SP, Duncan J, Slavotinek A, Stone EM, Rutar T. Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 14: 93-6. PMID 20227630 DOI: 10.1016/j.jaapos.2009.11.012  0.92
2010 Drack AV, Lambert SR, Stone EM. From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology. American Journal of Ophthalmology. 149: 10-17. PMID 20103038 DOI: 10.1016/j.ajo.2009.08.038  0.92
2010 Walia S, Fishman GA, Jacobson SG, Aleman TS, Koenekoop RK, Traboulsi EI, Weleber RG, Pennesi ME, Heon E, Drack A, Lam BL, Allikmets R, Stone EM. Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. Ophthalmology. 117: 1190-8. PMID 20079931 DOI: 10.1016/j.ophtha.2009.09.056  0.92
2010 Campbell CA, Della Santina CC, Meyer NC, Smith NB, Myrie OA, Stone EM, Fukushima K, Califano J, Carey JP, Hansen MR, Gantz BJ, Minor LB, Smith RJ. Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population. American Journal of Medical Genetics. Part A. 152: 67-74. PMID 20034061 DOI: 10.1002/ajmg.a.33114  0.92
2010 Pasadhika S, Fishman GA, Stone EM, Lindeman M, Zelkha R, Lopez I, Koenekoop RK, Shahidi M. Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis. Investigative Ophthalmology & Visual Science. 51: 2608-14. PMID 19959640 DOI: 10.1167/iovs.09-3734  0.92
2010 Satz JS, Philp AR, Nguyen H, Kusano H, Lee J, Turk R, Riker MJ, Hernández J, Weiss RM, Anderson MG, Mullins RF, Moore SA, Stone EM, Campbell KP. Visual impairment in the absence of dystroglycan (The Journal of Neuroscience (2009) (13136-13146)) Journal of Neuroscience. 30: 1983.  0.92
2010 Satz JS, Philip AR, Nguyen H, Kusano H, Lee J, Turk R, Riker MJ, Hernández J, Weiss RM, Anderson MG, Mullins RF, Moore SA, Stone EM, Campbell KP. Visual impairment in the absence of dystroglycan (Journal of Neuroscience (2010) 30, (13136-13146)) Journal of Neuroscience. 30: 797.  0.92
2009 Mahajan VB, Russell SR, Stone EM. A new macular dystrophy with anomalous vascular development, pigment spots, cystic spaces, and neovascularization. Archives of Ophthalmology (Chicago, Ill. : 1960). 127: 1449-57. PMID 19901210 DOI: 10.1001/archophthalmol.2009.210  0.92
2009 Satz JS, Philp AR, Nguyen H, Kusano H, Lee J, Turk R, Riker MJ, Hernández J, Weiss RM, Anderson MG, Mullins RF, Moore SA, Stone EM, Campbell KP. Visual impairment in the absence of dystroglycan. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 29: 13136-46. PMID 19846701 DOI: 10.1523/JNEUROSCI.0474-09.2009  0.92
2009 Drack AV, Johnston R, Stone EM. Which Leber congenital amaurosis patients are eligible for gene therapy trials? Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 13: 463-5. PMID 19840725 DOI: 10.1016/j.jaapos.2009.08.006  0.92
2009 Sundaresan P, Vijayalakshmi P, Thompson S, Ko AC, Fingert JH, Stone EM. 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  0.92
2009 Mullins RF, Faidley EA, Daggett HT, Jomary C, Lotery AJ, Stone EM. Localization of complement 1 inhibitor (C1INH/SERPING1) in human eyes with age-related macular degeneration. Experimental Eye Research. 89: 767-73. PMID 19607829 DOI: 10.1016/j.exer.2009.07.001  0.92
2009 Sohn EH, Francis PJ, Duncan JL, Weleber RG, Saperstein DA, Farrell DF, Stone EM. Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy. Archives of Ophthalmology (Chicago, Ill. : 1960). 127: 913-20. PMID 19597114 DOI: 10.1001/archophthalmol.2009.148  0.92
2009 Aleman TS, Soumittra N, Cideciyan AV, Sumaroka AM, Ramprasad VL, Herrera W, Windsor EA, Schwartz SB, Russell RC, Roman AJ, Inglehearn CF, Kumaramanickavel G, Stone EM, Fishman GA, Jacobson SG. CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. Investigative Ophthalmology & Visual Science. 50: 5944-54. PMID 19578027 DOI: 10.1167/iovs.09-3982  0.92
2009 Genead MA, Fishman GA, Stone EM, Allikmets R. The natural history of stargardt disease with specific sequence mutation in the ABCA4 gene. Investigative Ophthalmology & Visual Science. 50: 5867-71. PMID 19578016 DOI: 10.1167/iovs.09-3611  0.92
2009 Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Swider M, Herrera W, Stone EM. Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. Molecular Vision. 15: 1098-106. PMID 19503738  0.92
2009 Meyer E, Rahman F, Owens J, Pasha S, Morgan NV, Trembath RC, Stone EM, Moore AT, Maher ER. Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract. Molecular Vision. 15: 1014-9. PMID 19461930  0.92
2009 Philp AR, Jin M, Li S, Schindler EI, Iannaccone A, Lam BL, Weleber RG, Fishman GA, Jacobson SG, Mullins RF, Travis GH, Stone EM. Predicting the pathogenicity of RPE65 mutations. Human Mutation. 30: 1183-8. PMID 19431183 DOI: 10.1002/humu.21033  0.92
2009 Stone EM. Progress toward effective treatments for human photoreceptor degenerations. Current Opinion in Genetics & Development. 19: 283-9. PMID 19414246 DOI: 10.1016/j.gde.2009.03.006  0.92
2009 McMahon TT, Kim LS, Fishman GA, Stone EM, Zhao XC, Yee RW, Malicki J. CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis. Investigative Ophthalmology & Visual Science. 50: 3185-7. PMID 19407021 DOI: 10.1167/iovs.08-2886  0.92
2009 Pasadhika S, Fishman GA, Allikmets R, Stone EM. Peripapillary retinal nerve fiber layer thinning in patients with autosomal recessive cone-rod dystrophy. American Journal of Ophthalmology. 148: 260-265.e1. PMID 19406377 DOI: 10.1016/j.ajo.2009.03.001  0.92
2009 Williams DS, Aleman TS, Lillo C, Lopes VS, Hughes LC, Stone EM, Jacobson SG. Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C. Investigative Ophthalmology & Visual Science. 50: 3881-9. PMID 19324851 DOI: 10.1167/iovs.08-3358  0.92
2009 Jacobson SG, Aleman TS, Cideciyan AV, Roman AJ, Sumaroka A, Windsor EA, Schwartz SB, Heon E, Stone EM. Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. Investigative Ophthalmology & Visual Science. 50: 2368-75. PMID 19117922 DOI: 10.1167/iovs.08-2696  0.92
2009 Cideciyan AV, Swider M, Aleman TS, Tsybovsky Y, Schwartz SB, Windsor EA, Roman AJ, Sumaroka A, Steinberg JD, Jacobson SG, Stone EM, Palczewski K. ABCA4 disease progression and a proposed strategy for gene therapy. Human Molecular Genetics. 18: 931-41. PMID 19074458 DOI: 10.1093/hmg/ddn421  0.92
2009 Iannaccone A, Fung KH, Eyestone ME, Stone EM. Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. American Journal of Ophthalmology. 147: 307-312.e2. PMID 18835469 DOI: 10.1016/j.ajo.2008.08.003  0.92
2009 Walia S, Fishman GA, Molday RS, Dyka FM, Kumar NM, Ehlinger MA, Stone EM. Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin. American Journal of Ophthalmology. 147: 111-115.e1. PMID 18834580 DOI: 10.1016/j.ajo.2008.07.041  0.92
2009 Aleman TS, Lam BL, Cideciyan AV, Sumaroka A, Windsor EA, Roman AJ, Schwartz SB, Stone EM, Jacobson SG. Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets. Eye (London, England). 23: 230-3. PMID 18704120 DOI: 10.1038/eye.2008.264  0.92
2008 Cideciyan AV, Aleman TS, Boye SL, Schwartz SB, Kaushal S, Roman AJ, Pang JJ, Sumaroka A, Windsor EA, Wilson JM, Flotte TR, Fishman GA, Heon E, Stone EM, Byrne BJ, et al. Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proceedings of the National Academy of Sciences of the United States of America. 105: 15112-7. PMID 18809924 DOI: 10.1073/pnas.0807027105  0.92
2008 Fingert JH, Oh K, Chung M, Scheetz TE, Andorf JL, Johnson RM, Sheffield VC, Stone EM. Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa. Archives of Ophthalmology (Chicago, Ill. : 1960). 126: 1301-7. PMID 18779497 DOI: 10.1001/archopht.126.9.1301  0.92
2008 Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Windsor EA, Schwartz SB, Heon E, Stone EM. Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations. Investigative Ophthalmology & Visual Science. 49: 4573-7. PMID 18539930 DOI: 10.1167/iovs.08-2121  0.92
2008 Thompson S, Mullins RF, Philp AR, Stone EM, Mrosovsky N. Divergent phenotypes of vision and accessory visual function in mice with visual cycle dysfunction (Rpe65 rd12) or retinal degeneration (rd/rd). Investigative Ophthalmology & Visual Science. 49: 2737-42. PMID 18515598 DOI: 10.1167/iovs.07-1546  0.92
2008 Thompson S, Foster RG, Stone EM, Sheffield VC, Mrosovsky N. Classical and melanopsin photoreception in irradiance detection: negative masking of locomotor activity by light. The European Journal of Neuroscience. 27: 1973-9. PMID 18412618 DOI: 10.1111/j.1460-9568.2008.06168.x  0.92
2008 Aleman TS, Cideciyan AV, Sumaroka A, Windsor EA, Herrera W, White DA, Kaushal S, Naidu A, Roman AJ, Schwartz SB, Stone EM, Jacobson SG. Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations. Investigative Ophthalmology & Visual Science. 49: 1580-90. PMID 18385078 DOI: 10.1167/iovs.07-1110  0.92
2008 Shah SS, Al-Rajhi A, Brandt JD, Mannis MJ, Roos B, Sheffield VC, Syed NA, Stone EM, Fingert JH. Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family. Ophthalmic Genetics. 29: 41-5. PMID 18363173 DOI: 10.1080/13816810701850033  0.92
2008 Shankar SP, Fingert JH, Carelli V, Valentino ML, King TM, Daiger SP, Salomao SR, Berezovsky A, Belfort R, Braun TA, Sheffield VC, Sadun AA, Stone EM. Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. Ophthalmic Genetics. 29: 17-24. PMID 18363168 DOI: 10.1080/13816810701867607  0.92
2008 Herrera W, Aleman TS, Cideciyan AV, Roman AJ, Banin E, Ben-Yosef T, Gardner LM, Sumaroka A, Windsor EA, Schwartz SB, Stone EM, Liu XZ, Kimberling WJ, Jacobson SG. Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene. Investigative Ophthalmology & Visual Science. 49: 2651-60. PMID 18281613 DOI: 10.1167/iovs.07-1505  0.92
2008 Wang WH, McNatt LG, Pang IH, Millar JC, Hellberg PE, Hellberg MH, Steely HT, Rubin JS, Fingert JH, Sheffield VC, Stone EM, Clark AF. Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure. The Journal of Clinical Investigation. 118: 1056-64. PMID 18274669 DOI: 10.1172/JCI33871  0.92
2008 Thompson S, Philp AR, Stone EM. Visual function testing: a quantifiable visually guided behavior in mice. Vision Research. 48: 346-52. PMID 17825348 DOI: 10.1016/j.visres.2007.07.020  0.92
2007 O'Leary BM, Davis SG, Smith MF, Brown B, Kemp MB, Almabrazi H, Grundstad JA, Burns T, Leontiev V, Andorf J, Clark AF, Sheffield VC, Casavant TL, Scheetz TE, Stone EM, et al. Transcript annotation prioritization and screening system (TrAPSS) for mutation screening. Journal of Bioinformatics and Computational Biology. 5: 1155-72. PMID 18172923 DOI: 10.1142/S0219720007003132  0.92
2007 Fingert JH, Alward WL, Kwon YH, Wang K, Streb LM, Sheffield VC, Stone EM. LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. American Journal of Ophthalmology. 144: 974-975. PMID 18036875 DOI: 10.1016/j.ajo.2007.09.034  0.92
2007 Davis RE, Swiderski RE, Rahmouni K, Nishimura DY, Mullins RF, Agassandian K, Philp AR, Searby CC, Andrews MP, Thompson S, Berry CJ, Thedens DR, Yang B, Weiss RM, Cassell MD, ... Stone EM, et al. A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proceedings of the National Academy of Sciences of the United States of America. 104: 19422-7. PMID 18032602 DOI: 10.1073/pnas.0708571104  0.92
2007 Michaelides M, Chen LL, Brantley MA, Andorf JL, Isaak EM, Jenkins SA, Holder GE, Bird AC, Stone EM, Webster AR. ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy. The British Journal of Ophthalmology. 91: 1650-5. PMID 18024811 DOI: 10.1136/bjo.2007.118356  0.92
2007 Stone EM. Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. American Journal of Ophthalmology. 144: 791-811. PMID 17964524 DOI: 10.1016/j.ajo.2007.08.022  0.92
2007 Kim LS, Fishman GA, Seiple WH, Szlyk JP, Stone EM. Retinal dysfunction in carriers of bardet-biedl syndrome. Ophthalmic Genetics. 28: 163-8. PMID 17896315 DOI: 10.1080/13816810701537440  0.92
2007 Fu L, Garland D, Yang Z, Shukla D, Rajendran A, Pearson E, Stone EM, Zhang K, Pierce EA. The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. Human Molecular Genetics. 16: 2411-22. PMID 17666404 DOI: 10.1093/hmg/ddm198  0.92
2007 Lam BL, Goldberg JL, Hartley KL, Stone EM, Liu M. Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene. American Journal of Ophthalmology. 144: 157-9. PMID 17601449 DOI: 10.1016/j.ajo.2007.03.012  0.92
2007 Mullins RF, Kuehn MH, Faidley EA, Syed NA, Stone EM. Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease. Investigative Ophthalmology & Visual Science. 48: 3372-80. PMID 17591911 DOI: 10.1167/iovs.06-0868  0.92
2007 Swiderski RE, Nishimura DY, Mullins RF, Olvera MA, Ross JL, Huang J, Stone EM, Sheffield VC. Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage. Investigative Ophthalmology & Visual Science. 48: 3329-40. PMID 17591906 DOI: 10.1167/iovs.06-1477  0.92
2007 Cideciyan AV, Aleman TS, Jacobson SG, Khanna H, Sumaroka A, Aguirre GK, Schwartz SB, Windsor EA, He S, Chang B, Stone EM, Swaroop A. Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. Human Mutation. 28: 1074-83. PMID 17554762 DOI: 10.1002/humu.20565  0.92
2007 Bakall B, Radu RA, Stanton JB, Burke JM, McKay BS, Wadelius C, Mullins RF, Stone EM, Travis GH, Marmorstein AD. Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2). Experimental Eye Research. 85: 34-43. PMID 17477921 DOI: 10.1016/j.exer.2007.02.018  0.92
2007 Thomas G, Grassi MA, Lee JR, Edwards AO, Gorin MB, Klein R, Casavant TL, Scheetz TE, Stone EM, Williams AB. IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping. Investigative Ophthalmology & Visual Science. 48: 2278-84. PMID 17460291 DOI: 10.1167/iovs.06-1022  0.92
2007 Guziewicz KE, Zangerl B, Lindauer SJ, Mullins RF, Sandmeyer LS, Grahn BH, Stone EM, Acland GM, Aguirre GD. Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Investigative Ophthalmology & Visual Science. 48: 1959-67. PMID 17460247 DOI: 10.1167/iovs.06-1374  0.92
2007 Fingert JH, Grassi MA, Janutka JC, East JS, Howard JG, Sheffield VC, Jacobson DM, Hayreh SS, Stone EM. Mitochondrial variant G4132A is associated with familial non-arteritic anterior ischemic optic neuropathy in one large pedigree. Ophthalmic Genetics. 28: 1-7. PMID 17454741 DOI: 10.1080/13816810701199399  0.92
2007 Fingert JH, Honkanen RA, Shankar SP, Affatigato LM, Ehlinger MA, Moore MD, Jampol LM, Sheffield VC, Stone EM, Alward WL. Familial cavitary optic disk anomalies: identification of a novel genetic locus. American Journal of Ophthalmology. 143: 795-800. PMID 17368552 DOI: 10.1016/j.ajo.2007.01.042  0.92
2007 Honkanen RA, Jampol LM, Fingert JH, Moore MD, Taylor CM, Stone EM, Alward WL. Familial cavitary optic disk anomalies: clinical features of a large family with examples of progressive optic nerve head cupping. American Journal of Ophthalmology. 143: 788-794. PMID 17362864 DOI: 10.1016/j.ajo.2007.01.029  0.92
2007 Fingert JH, Alward WL, Kwon YH, Shankar SP, Andorf JL, Mackey DA, Sheffield VC, Stone EM. No association between variations in the WDR36 gene and primary open-angle glaucoma. Archives of Ophthalmology (Chicago, Ill. : 1960). 125: 434-6. PMID 17353431 DOI: 10.1001/archopht.125.3.434-b  0.92
2007 Aleman TS, Cideciyan AV, Windsor EA, Schwartz SB, Swider M, Chico JD, Sumaroka A, Pantelyat AY, Duncan KG, Gardner LM, Emmons JM, Steinberg JD, Stone EM, Jacobson SG. Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations. Investigative Ophthalmology & Visual Science. 48: 1319-29. PMID 17325179 DOI: 10.1167/iovs.06-0764  0.92
2007 Shepard AR, Jacobson N, Millar JC, Pang IH, Steely HT, Searby CC, Sheffield VC, Stone EM, Clark AF. Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure. Human Molecular Genetics. 16: 609-17. PMID 17317787 DOI: 10.1093/hmg/ddm001  0.92
2007 Grassi MA, Folk JC, Scheetz TE, Taylor CM, Sheffield VC, Stone EM. Complement factor H polymorphism p.Tyr402His and cuticular Drusen. Archives of Ophthalmology (Chicago, Ill. : 1960). 125: 93-7. PMID 17210858 DOI: 10.1001/archopht.125.1.93  0.92
2007 Hewitt AW, Bennett SL, Fingert JH, Cooper RL, Stone EM, Craig JE, Mackey DA. The optic nerve head in myocilin glaucoma. Investigative Ophthalmology & Visual Science. 48: 238-43. PMID 17197538 DOI: 10.1167/iovs.06-0611  0.92
2007 Mullins RF, Olvera MA, Clark AF, Stone EM. Fibulin-5 distribution in human eyes: relevance to age-related macular degeneration. Experimental Eye Research. 84: 378-80. PMID 17109857 DOI: 10.1016/j.exer.2006.09.021  0.92
2007 White DR, Ganesh A, Nishimura D, Rattenberry E, Ahmed S, Smith UM, Pasha S, Raeburn S, Trembath RC, Rajab A, Macdonald F, Banin E, Stone EM, Johnson CA, Sheffield VC, et al. Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. European Journal of Human Genetics : Ejhg. 15: 173-8. PMID 17106446 DOI: 10.1038/sj.ejhg.5201736  0.92
2006 Daiger SP, Shankar SP, Schindler AB, Sullivan LS, Bowne SJ, King TM, Daw EW, Stone EM, Heckenlively JR. Genetic factors modifying clinical expression of autosomal dominant RP. Advances in Experimental Medicine and Biology. 572: 3-8. PMID 17249547 DOI: 10.1007/0-387-32442-9_1  0.92
2006 Azari AA, Aleman TS, Cideciyan AV, Schwartz SB, Windsor EA, Sumaroka A, Cheung AY, Steinberg JD, Roman AJ, Stone EM, Sheffield VC, Jacobson SG. Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Investigative Ophthalmology & Visual Science. 47: 5004-10. PMID 17065520 DOI: 10.1167/iovs.06-0517  0.92
2006 Scheetz TE, Kim KY, Swiderski RE, Philp AR, Braun TA, Knudtson KL, Dorrance AM, DiBona GF, Huang J, Casavant TL, Sheffield VC, Stone EM. Regulation of gene expression in the mammalian eye and its relevance to eye disease. Proceedings of the National Academy of Sciences of the United States of America. 103: 14429-34. PMID 16983098 DOI: 10.1073/pnas.0602562103  0.92
2006 Zangerl B, Goldstein O, Philp AR, Lindauer SJ, Pearce-Kelling SE, Mullins RF, Graphodatsky AS, Ripoll D, Felix JS, Stone EM, Acland GM, Aguirre GD. Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics. 88: 551-63. PMID 16938425 DOI: 10.1016/j.ygeno.2006.07.007  0.92
2006 Grassi MA, Fingert JH, Scheetz TE, Roos BR, Ritch R, West SK, Kawase K, Shire AM, Mullins RF, Stone EM. Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His. Human Mutation. 27: 921-5. PMID 16865697 DOI: 10.1002/humu.20359  0.92
2006 Fingert JH, Kwon YH, Moore PA, Johnston RM, Kim KY, Sheffield VC, Alward WL, Stone EM. 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: 39-41. PMID 16754204 DOI: 10.1080/13816810600677883  0.92
2006 Fingert JH, Eliason DA, Phillips NC, Lotery AJ, Sheffield VC, Stone EM. Case of Stargardt disease caused by uniparental isodisomy. Archives of Ophthalmology (Chicago, Ill. : 1960). 124: 744-5. PMID 16682602 DOI: 10.1001/archopht.124.5.744  0.92
2006 Kuehn MH, Kim CY, Ostojic J, Bellin M, Alward WL, Stone EM, Sakaguchi DS, Grozdanic SD, Kwon YH. Retinal synthesis and deposition of complement components induced by ocular hypertension. Experimental Eye Research. 83: 620-8. PMID 16677633 DOI: 10.1016/j.exer.2006.03.002  0.92
2006 Bischof JM, Chiang AP, Scheetz TE, Stone EM, Casavant TL, Sheffield VC, Braun TA. Genome-wide identification of pseudogenes capable of disease-causing gene conversion. Human Mutation. 27: 545-52. PMID 16671097 DOI: 10.1002/humu.20335  0.92
2006 Chiang AP, Beck JS, Yen HJ, Tayeh MK, Scheetz TE, Swiderski RE, Nishimura DY, Braun TA, Kim KY, Huang J, Elbedour K, Carmi R, Slusarski DC, Casavant TL, Stone EM, et al. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proceedings of the National Academy of Sciences of the United States of America. 103: 6287-92. PMID 16606853 DOI: 10.1073/pnas.0600158103  0.92
2006 Yen HJ, Tayeh MK, Mullins RF, Stone EM, Sheffield VC, Slusarski DC. Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Human Molecular Genetics. 15: 667-77. PMID 16399798 DOI: 10.1093/hmg/ddi468  0.92
2006 Braun TA, Shankar SP, Davis S, O'Leary B, Scheetz TE, Clark AF, Sheffield VC, Casavant TL, Stone EM. Prioritizing regions of candidate genes for efficient mutation screening. Human Mutation. 27: 195-200. PMID 16395665 DOI: 10.1002/humu.20247  0.92
2006 Allen RC, Russell SR, Streb LM, Alsheikheh A, Stone EM. Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein. Eye (London, England). 20: 234-41. PMID 15776010 DOI: 10.1038/sj.eye.6701840  0.92
2005 Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. American Journal of Human Genetics. 77: 1021-33. PMID 16380913 DOI: 10.1086/498323  0.92
2005 Pinto LH, Vitaterna MH, Shimomura K, Siepka SM, McDearmon EL, Fenner D, Lumayag SL, Omura C, Andrews AW, Baker M, Invergo BM, Olvera MA, Heffron E, Mullins RF, Sheffield VC, ... Stone EM, et al. Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse. Visual Neuroscience. 22: 619-29. PMID 16332273 DOI: 10.1017/S0952523805225117  0.92
2005 Cideciyan AV, Swider M, Aleman TS, Sumaroka A, Schwartz SB, Roman MI, Milam AH, Bennett J, Stone EM, Jacobson SG. ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina. Investigative Ophthalmology & Visual Science. 46: 4739-46. PMID 16303974 DOI: 10.1167/iovs.05-0805  0.92
2005 Mullins RF, Oh KT, Heffron E, Hageman GS, Stone EM. Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation. Archives of Ophthalmology (Chicago, Ill. : 1960). 123: 1588-94. PMID 16286623 DOI: 10.1001/archopht.123.11.1588  0.92
2005 Galvin JA, Fishman GA, Stone EM, Koenekoop RK. Evaluation of genotype-phenotype associations in leber congenital amaurosis. Retina (Philadelphia, Pa.). 25: 919-29. PMID 16205573 DOI: 10.1097/00006982-200510000-00016  0.92
2005 Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Traboulsi EI, Heon E, Pittler SJ, Milam AH, Maguire AM, Palczewski K, Stone EM, Bennett J. Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. Proceedings of the National Academy of Sciences of the United States of America. 102: 6177-82. PMID 15837919 DOI: 10.1073/pnas.0500646102  0.92
2005 Sokal I, Dupps WJ, Grassi MA, Brown J, Affatigato LM, Roychowdhury N, Yang L, Filipek S, Palczewski K, Stone EM, Baehr W. A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). Investigative Ophthalmology & Visual Science. 46: 1124-32. PMID 15790869 DOI: 10.1167/iovs.04-1431  0.92
2005 Fath MA, Mullins RF, Searby C, Nishimura DY, Wei J, Rahmouni K, Davis RE, Tayeh MK, Andrews M, Yang B, Sigmund CD, Stone EM, Sheffield VC. Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Human Molecular Genetics. 14: 1109-18. PMID 15772095 DOI: 10.1093/hmg/ddi123  0.92
2005 Galvin JA, Fishman GA, Stone EM, Koenekoop RK. Clinical phenotypes in carriers of Leber congenital amaurosis mutations. Ophthalmology. 112: 349-56. PMID 15691574 DOI: 10.1016/j.ophtha.2004.08.023  0.92
2005 Héon E, Westall C, Carmi R, Elbedour K, Panton C, Mackeen L, Stone EM, Sheffield VC. Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. American Journal of Medical Genetics. Part A. 132: 283-7. PMID 15690372 DOI: 10.1002/ajmg.a.30466  0.92
2005 Schwartz SB, Aleman TS, Cideciyan AV, Windsor EA, Sumaroka A, Roman AJ, Rane T, Smilko EE, Bennett J, Stone EM, Kimberling WJ, Liu XZ, Jacobson SG. Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. Investigative Ophthalmology & Visual Science. 46: 734-43. PMID 15671307 DOI: 10.1167/iovs.04-1136  0.92
2004 Oh KT, Weleber RG, Stone EM, Oh DM, Rosenow J, Billingslea AM. Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus. Retina (Philadelphia, Pa.). 24: 920-8. PMID 15579991 DOI: 10.1097/00006982-200412000-00013  0.92
2004 Oh KT, Oh DM, Weleber RG, Stone EM, Parikh A, White J, Deboer-Shields KA, Streb L, Vallar C. Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa. The British Journal of Ophthalmology. 88: 1533-7. PMID 15548806 DOI: 10.1136/bjo.2004.043653  0.92
2004 Nishimura DY, Fath M, Mullins RF, Searby C, Andrews M, Davis R, Andorf JL, Mykytyn K, Swiderski RE, Yang B, Carmi R, Stone EM, Sheffield VC. Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proceedings of the National Academy of Sciences of the United States of America. 101: 16588-93. PMID 15539463 DOI: 10.1073/pnas.0405496101  0.92
2004 Pinto LH, Vitaterna MH, Siepka SM, Shimomura K, Lumayag S, Baker M, Fenner D, Mullins RF, Sheffield VC, Stone EM, Heffron E, Takahashi JS. Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus. Vision Research. 44: 3335-45. PMID 15536001 DOI: 10.1016/j.visres.2004.07.025  0.92
2004 Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, Cideciyan AV, Stone EM, Jacobson SG, et al. Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. Human Mutation. 24: 439. PMID 15459973 DOI: 10.1002/humu.9285  0.92
2004 Stone EM, Braun TA, Russell SR, Kuehn MH, Lotery AJ, Moore PA, Eastman CG, Casavant TL, Sheffield VC. Missense variations in the fibulin 5 gene and age-related macular degeneration. The New England Journal of Medicine. 351: 346-53. PMID 15269314 DOI: 10.1056/NEJMoa040833  0.92
2004 Chiang AP, Nishimura D, Searby C, Elbedour K, Carmi R, Ferguson AL, Secrist J, Braun T, Casavant T, Stone EM, Sheffield VC. Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). American Journal of Human Genetics. 75: 475-84. PMID 15258860 DOI: 10.1086/423903  0.92
2004 Jacobson SG, Sumaroka A, Aleman TS, Cideciyan AV, Schwartz SB, Roman AJ, McInnes RR, Sheffield VC, Stone EM, Swaroop A, Wright AF. Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Human Molecular Genetics. 13: 1893-902. PMID 15229190 DOI: 10.1093/hmg/ddh198  0.92
2004 Healey DL, Craig JE, Wilkinson CH, Stone EM, Mackey DA. Attitudes to predictive DNA testing for myocilin glaucoma: experience with a large Australian family. Journal of Glaucoma. 13: 304-11. PMID 15226659 DOI: 10.1097/00061198-200408000-00008  0.92
2004 Kang Derwent JJ, Derlacki DJ, Hetling JR, Fishman GA, Birch DG, Grover S, Stone EM, Pepperberg DR. Dark adaptation of rod photoreceptors in normal subjects, and in patients with Stargardt disease and an ABCA4 mutation. Investigative Ophthalmology & Visual Science. 45: 2447-56. PMID 15223829 DOI: 10.1167/iovs.03-1178  0.92
2004 Mykytyn K, Mullins RF, Andrews M, Chiang AP, Swiderski RE, Yang B, Braun T, Casavant T, Stone EM, Sheffield VC. Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proceedings of the National Academy of Sciences of the United States of America. 101: 8664-9. PMID 15173597 DOI: 10.1073/pnas.0402354101  0.92
2004 Oh KT, Weleber RG, Oh DM, Billingslea AM, Rosenow J, Stone EM. Clinical phenotype as a prognostic factor in Stargardt disease. Retina (Philadelphia, Pa.). 24: 254-62. PMID 15097887 DOI: 10.1097/00006982-200404000-00011  0.92
2004 Wang QL, Chen S, Esumi N, Swain PK, Haines HS, Peng G, Melia BM, McIntosh I, Heckenlively JR, Jacobson SG, Stone EM, Swaroop A, Zack DJ. QRX, a novel homeobox gene, modulates photoreceptor gene expression. Human Molecular Genetics. 13: 1025-40. PMID 15028672 DOI: 10.1093/hmg/ddh117  0.92
2004 Cideciyan AV, Aleman TS, Swider M, Schwartz SB, Steinberg JD, Brucker AJ, Maguire AM, Bennett J, Stone EM, Jacobson SG. Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence. Human Molecular Genetics. 13: 525-34. PMID 14709597 DOI: 10.1093/hmg/ddh048  0.92
2003 Lotery AJ, Yang GS, Mullins RF, Russell SR, Schmidt M, Stone EM, Lindbloom JD, Chiorini JA, Kotin RM, Davidson BL. Adeno-associated virus type 5: transduction efficiency and cell-type specificity in the primate retina. Human Gene Therapy. 14: 1663-71. PMID 14633408 DOI: 10.1089/104303403322542301  0.92
2003 Alward WL, Kwon YH, Kawase K, Craig JE, Hayreh SS, Johnson AT, Khanna CL, Yamamoto T, Mackey DA, Roos BR, Affatigato LM, Sheffield VC, Stone EM. Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. American Journal of Ophthalmology. 136: 904-10. PMID 14597044  0.92
2003 Mackey DA, Healey DL, Fingert JH, Coote MA, Wong TL, Wilkinson CH, McCartney PJ, Rait JL, de Graaf AP, Stone EM, Craig JE. Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation. Archives of Ophthalmology (Chicago, Ill. : 1960). 121: 1172-80. PMID 12912696 DOI: 10.1001/archopht.121.8.1172  0.92
2003 Oh KT, Longmuir R, Oh DM, Stone EM, Kopp K, Brown J, Fishman GA, Sonkin P, Gehrs KM, Weleber RG. Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23. American Journal of Ophthalmology. 136: 306-13. PMID 12888054 DOI: 10.1016/S0002-9394(03)00206-X  0.92
2003 Schwartz SB, Aleman TS, Cideciyan AV, Swaroop A, Jacobson SG, Stone EM. De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa. Investigative Ophthalmology & Visual Science. 44: 3593-7. PMID 12882812 DOI: 10.1167/iovs.03-0155  0.92
2003 Wilkinson CH, van der Straaten D, Craig JE, Coote MA, McCartney PJ, Stankovich J, Stone EM, Mackey DA. Tonography demonstrates reduced facility of outflow of aqueous humor in myocilin mutation carriers. Journal of Glaucoma. 12: 237-42. PMID 12782842 DOI: 10.1097/00061198-200306000-00010  0.92
2003 Jacobson SG, Cideciyan AV, Aleman TS, Pianta MJ, Sumaroka A, Schwartz SB, Smilko EE, Milam AH, Sheffield VC, Stone EM. Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Human Molecular Genetics. 12: 1073-8. PMID 12700176 DOI: 10.1093/hmg/ddg117  0.92
2003 Shepard AR, Jacobson N, Sui R, Steely HT, Lotery AJ, Stone EM, Clark AF. Characterization of rabbit myocilin: Implications for human myocilin glycosylation and signal peptide usage. Bmc Genetics. 4: 5. PMID 12697062 DOI: 10.1186/1471-2156-4-5  0.92
2003 Milam AH, Barakat MR, Gupta N, Rose L, Aleman TS, Pianta MJ, Cideciyan AV, Sheffield VC, Stone EM, Jacobson SG. Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. Ophthalmology. 110: 549-58. PMID 12623820 DOI: 10.1016/S0161-6420(02)01757-8  0.92
2003 Honkanen RA, Nishimura DY, Swiderski RE, Bennett SR, Hong S, Kwon YH, Stone EM, Sheffield VC, Alward WL. A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. American Journal of Ophthalmology. 135: 368-75. PMID 12614756  0.92
2003 Pianta MJ, Aleman TS, Cideciyan AV, Sunness JS, Li Y, Campochiaro BA, Campochiaro PA, Zack DJ, Stone EM, Jacobson SG. In vivo micropathology of Best macular dystrophy with optical coherence tomography. Experimental Eye Research. 76: 203-11. PMID 12565808 DOI: 10.1016/S0014-4835(02)00280-4  0.92
2003 Mykytyn K, Nishimura DY, Searby CC, Beck G, Bugge K, Haines HL, Cornier AS, Cox GF, Fulton AB, Carmi R, Iannaccone A, Jacobson SG, Weleber RG, Wright AF, Riise R, ... ... Stone EM, et al. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). American Journal of Human Genetics. 72: 429-37. PMID 12524598 DOI: 10.1086/346172  0.92
2002 Fingert JH, Stone EM, Sheffield VC, Alward WL. Myocilin glaucoma. Survey of Ophthalmology. 47: 547-61. PMID 12504739 DOI: 10.1016/S0039-6257(02)00353-3  0.92
2002 Graul TA, Kwon YH, Zimmerman MB, Kim CS, Sheffield VC, Stone EM, Alward WL. 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: 884-90. PMID 12470758 DOI: 10.1016/S0002-9394(02)01754-3  0.92
2002 Alward WL, Kwon YH, Khanna CL, Johnson AT, Hayreh SS, Zimmerman MB, Narkiewicz J, Andorf JL, Moore PA, Fingert JH, Sheffield VC, Stone EM. Variations in the myocilin gene in patients with open-angle glaucoma. Archives of Ophthalmology (Chicago, Ill. : 1960). 120: 1189-97. PMID 12215093  0.92
2002 Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Lüleci G, Chandrasekharappa SC, Collins FS, ... ... Stone EM, et al. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nature Genetics. 31: 435-8. PMID 12118255 DOI: 10.1038/ng935  0.92
2002 Duncan JL, Aleman TS, Gardner LM, De Castro E, Marks DA, Emmons JM, Bieber ML, Steinberg JD, Bennett J, Stone EM, MacDonald IM, Cideciyan AV, Maguire MG, Jacobson SG. Macular pigment and lutein supplementation in choroideremia. Experimental Eye Research. 74: 371-81. PMID 12014918 DOI: 10.1006/exer.2001.1126  0.92
2002 Héon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, ... Stone EM, et al. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Human Molecular Genetics. 11: 1029-36. PMID 11978762  0.92
2002 Lotery AJ, Derksen TA, Russell SR, Mullins RF, Sauter S, Affatigato LM, Stone EM, Davidson BL. Gene transfer to the nonhuman primate retina with recombinant feline immunodeficiency virus vectors. Human Gene Therapy. 13: 689-96. PMID 11936968 DOI: 10.1089/104303402317322258  0.92
2002 Jacobson SG, Cideciyan AV, Bennett J, Kingsley RM, Sheffield VC, Stone EM. Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. Archives of Ophthalmology (Chicago, Ill. : 1960). 120: 376-9. PMID 11879143  0.92
2002 Borges AS, Susanna R, Carani JC, Betinjane AJ, Alward WL, Stone EM, Sheffield VC, Nishimura DY. Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil. Journal of Glaucoma. 11: 51-6. PMID 11821690  0.92
2002 Milam AH, Rose L, Cideciyan AV, Barakat MR, Tang WX, Gupta N, Aleman TS, Wright AF, Stone EM, Sheffield VC, Jacobson SG. The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proceedings of the National Academy of Sciences of the United States of America. 99: 473-8. PMID 11773633 DOI: 10.1073/pnas.022533099  0.92
2001 Kawase C, Kawase K, Taniguchi T, Sugiyama K, Yamamoto T, Kitazawa Y, Alward WL, Stone EM, Nishimura DY, Sheffield VC. Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients. Journal of Glaucoma. 10: 477-82. PMID 11740218  0.92
2001 Shepard AR, Jacobson N, Fingert JH, Stone EM, Sheffield VC, Clark AF. Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cells. Investigative Ophthalmology & Visual Science. 42: 3173-81. PMID 11726619  0.92
2001 Kuehn MH, Stone EM, Hageman GS. Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders. Investigative Ophthalmology & Visual Science. 42: 3123-9. PMID 11726612  0.4
2001 Allen RC, Webster AR, Sui R, Brown J, Taylor CM, Stone EM. Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease. Archives of Ophthalmology (Chicago, Ill. : 1960). 119: 1659-65. PMID 11709017  0.92
2001 Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield VC, ... Stone EM, et al. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Human Molecular Genetics. 10: 2415-23. PMID 11689488  0.92
2001 Stone EM, Sheffield VC, Hageman GS. Molecular genetics of age-related macular degeneration. Human Molecular Genetics. 10: 2285-92. PMID 11673412  0.92
2001 Craig JE, Baird PN, Healey DL, McNaught AI, McCartney PJ, Rait JL, Dickinson JL, Roe L, Fingert JH, Stone EM, Mackey DA. Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier. Ophthalmology. 108: 1607-20. PMID 11535458 DOI: 10.1016/S0161-6420(01)00654-6  0.92
2001 Clark AF, Steely HT, Dickerson JE, English-Wright S, Stropki K, McCartney MD, Jacobson N, Shepard AR, Clark JI, Matsushima H, Peskind ER, Leverenz JB, Wilkinson CW, Swiderski RE, Fingert JH, ... ... Stone EM, et al. Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues. Investigative Ophthalmology & Visual Science. 42: 1769-80. PMID 11431441  0.92
2001 Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, ... ... Stone EM, et al. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nature Genetics. 28: 188-91. PMID 11381270 DOI: 10.1038/88925  0.92
2001 Sheffield VC, Nishimura D, Stone EM. The molecular genetics of Bardet-Biedl syndrome. Current Opinion in Genetics & Development. 11: 317-21. PMID 11377969 DOI: 10.1016/S0959-437X(00)00196-9  0.92
2001 Guymer RH, Héon E, Lotery AJ, Munier FL, Schorderet DF, Baird PN, McNeil RJ, Haines H, Sheffield VC, Stone EM. Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Archives of Ophthalmology (Chicago, Ill. : 1960). 119: 745-51. PMID 11346402  0.92
2001 Clark AF, Kawase K, English-Wright S, Lane D, Steely HT, Yamamoto T, Kitazawa Y, Kwon YH, Fingert JH, Swiderski RE, Mullins RF, Hageman GS, Alward WL, Sheffield VC, Stone EM. Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 15: 1251-3. PMID 11344104  0.92
2001 Webster AR, Héon E, Lotery AJ, Vandenburgh K, Casavant TL, Oh KT, Beck G, Fishman GA, Lam BL, Levin A, Heckenlively JR, Jacobson SG, Weleber RG, Sheffield VC, Stone EM. An analysis of allelic variation in the ABCA4 gene. Investigative Ophthalmology & Visual Science. 42: 1179-89. PMID 11328725  0.92
2001 Wang WH, McNatt LG, Shepard AR, Jacobson N, Nishimura DY, Stone EM, Sheffield VC, Clark AF. Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR. Molecular Vision. 7: 89-94. PMID 11320352  0.92
2001 Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, ... ... Stone EM, et al. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Human Molecular Genetics. 10: 865-74. PMID 11285252  0.92
2001 Lotery AJ, Jacobson SG, Fishman GA, Weleber RG, Fulton AB, Namperumalsamy P, Héon E, Levin AV, Grover S, Rosenow JR, Kopp KK, Sheffield VC, Stone EM. Mutations in the CRB1 gene cause Leber congenital amaurosis. Archives of Ophthalmology (Chicago, Ill. : 1960). 119: 415-20. PMID 11231775  0.92
2001 Nishimura DY, Searby CC, Alward WL, Walton D, Craig JE, Mackey DA, Kawase K, Kanis AB, Patil SR, Stone EM, Sheffield VC. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. American Journal of Human Genetics. 68: 364-72. PMID 11170889 DOI: 10.1086/318183  0.92
2001 Jacobson N, Andrews M, Shepard AR, Nishimura D, Searby C, Fingert JH, Hageman G, Mullins R, Davidson BL, Kwon YH, Alward WL, Stone EM, Clark AF, Sheffield VC. Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Human Molecular Genetics. 10: 117-25. PMID 11152659  0.92
Show low-probability matches.