Edwin M. Stone - Publications

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

435 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
2021 Han IC, Burnight ER, Kaalberg EE, Boyce TM, Stone EM, Fingert JH, Mullins RF, Tucker BA, Wiley LA. Chimeric Helper-Dependent Adenoviruses Transduce Retinal Ganglion Cells and Müller Cells in Human Retinal Explants. Journal of Ocular Pharmacology and Therapeutics : the Official Journal of the Association For Ocular Pharmacology and Therapeutics. PMID 34597181 DOI: 10.1089/jop.2021.0057  0.61
2021 Tucker BA, Burnight ER, Cranston CM, Ulferts MJ, Luse MA, Westfall T, Scott CA, Marsden A, Gibson-Corley K, Wiley LA, Han IC, Slusarski DC, Mullins RF, Stone EM. Development and biological characterization of a clinical gene transfer vector for the treatment of MAK-associated retinitis pigmentosa. Gene Therapy. PMID 34518651 DOI: 10.1038/s41434-021-00291-5  0.349
2021 Bowen RC, Boldt HC, Mullins RF, Field MG, Affatigato LM, Hoffmann JM, Folk JC, Gehrs KM, Han IC, Sohn EH, Russell SR, Stone EM, Tucker BA, Binkley EM. Intrafamilial variability of ocular manifestations of von Hippel-Lindau disease. Ophthalmology. Retina. PMID 34416425 DOI: 10.1016/j.oret.2021.08.005  0.305
2021 van der Heide C, Goar W, Meyer KJ, Alward WLM, Boese EA, Sears NC, Roos BR, Kwon YH, DeLuca AP, Siggs OM, Gonzaga-Jauregui C, Sheffield VC, Wang K, Stone EM, Mullins RF, et al. Exome-based investigation of the genetic basis of human pigmentary glaucoma. Bmc Genomics. 22: 477. PMID 34174832 DOI: 10.1186/s12864-021-07782-0  0.596
2021 Voigt AP, Mullin NK, Whitmore SS, DeLuca AP, Burnight ER, Liu X, Tucker BA, Scheetz TE, Stone EM, Mullins RF. Human photoreceptor cells from different macular subregions have distinct transcriptional profiles. Human Molecular Genetics. PMID 34014299 DOI: 10.1093/hmg/ddab140  0.31
2020 Voigt AP, Mullin NK, Stone EM, Tucker BA, Scheetz TE, Mullins RF. Single-cell RNA sequencing in vision research: Insights into human retinal health and disease. Progress in Retinal and Eye Research. 100934. PMID 33383180 DOI: 10.1016/j.preteyeres.2020.100934  0.301
2020 Mullin NK, Voigt AP, Cooke JA, Bohrer LR, Burnight ER, Stone EM, Mullins RF, Tucker BA. Patient derived stem cells for discovery and validation of novel pathogenic variants in inherited retinal disease. Progress in Retinal and Eye Research. 100918. PMID 33130253 DOI: 10.1016/j.preteyeres.2020.100918  0.347
2020 Whitmore SS, Fortenbach CR, Cheng JL, DeLuca AP, Critser DB, Geary EL, Hoffmann JM, Stone EM, Han IC. Analysis of retinal sublayer thicknesses and rates of change in ABCA4-associated Stargardt disease. Scientific Reports. 10: 16576. PMID 33024232 DOI: 10.1038/s41598-020-73645-5  0.327
2020 Han IC, Cheng JL, Burnight E, Ralston CL, Fick JL, Thomsen GJ, Tovar EF, Russell S, Sohn EH, Mullins RF, Stone E, Tucker BA, Wiley LA. Retinal Tropism and Transduction of Adeno-Associated Virus (AAV) Varies by Serotype and Route of Delivery (Intravitreal, Subretinal or Suprachoroidal) in Rats. Human Gene Therapy. PMID 32948113 DOI: 10.1089/Hum.2020.043  0.385
2020 Voigt AP, Whitmore SS, Lessing ND, DeLuca AP, Tucker BA, Stone EM, Mullins RF, Scheetz TE. Spectacle: An interactive resource for ocular single-cell RNA sequencing data analysis. Experimental Eye Research. 108204. PMID 32910939 DOI: 10.1016/J.Exer.2020.108204  0.308
2020 Sinha D, Steyer B, Shahi PK, Mueller KP, Valiauga R, Edwards KL, Bacig C, Steltzer SS, Srinivasan S, Abdeen A, Cory E, Periyasamy V, Siahpirani AF, Stone EM, Tucker BA, et al. Human iPSC Modeling Reveals Mutation-Specific Responses to Gene Therapy in a Genotypically Diverse Dominant Maculopathy. American Journal of Human Genetics. PMID 32707085 DOI: 10.1016/J.Ajhg.2020.06.011  0.462
2020 Voigt AP, Whitmore SS, Mulfaul K, Chirco KR, Giacalone JC, Flamme-Wiese MJ, Stockman A, Stone EM, Tucker BA, Scheetz TE, Mullins RF. Bulk and single-cell gene expression analyses reveal aging human choriocapillaris has pro-inflammatory phenotype. Microvascular Research. 104031. PMID 32531351 DOI: 10.1016/J.Mvr.2020.104031  0.331
2020 Voigt AP, Binkley E, Flamme-Wiese MJ, Zeng S, DeLuca AP, Scheetz TE, Tucker BA, Mullins RF, Stone EM. Single-Cell RNA Sequencing in Human Retinal Degeneration Reveals Distinct Glial Cell Populations. Cells. 9. PMID 32069977 DOI: 10.3390/Cells9020438  0.434
2019 Wiley LA, Binkley EM, DeLuca AP, Workalemahu G, Tatro NJ, Luse MA, Kennedy EL, Folk JC, Scheetz TE, Ballas ZK, Tucker BA, Mullins RF, Han IC, Stone EM. AUTOIMMUNE RETINOPATHY MIMICKING HERITABLE RETINAL DEGENERATION IN A PATIENT WITH COMMON VARIABLE IMMUNE DEFICIENCY. Retinal Cases & Brief Reports. PMID 31764884 DOI: 10.1097/Icb.0000000000000941  0.323
2019 Voigt AP, Mulfaul K, Mullin NK, Flamme-Wiese MJ, Giacalone JC, Stone EM, Tucker BA, Scheetz TE, Mullins RF. Single-cell transcriptomics of the human retinal pigment epithelium and choroid in health and macular degeneration. Proceedings of the National Academy of Sciences of the United States of America. PMID 31712411 DOI: 10.1073/Pnas.1914143116  0.415
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  0.354
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  0.395
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  0.411
2019 Voigt AP, Whitmore SS, Flamme-Wiese MJ, Riker M, Wiley LA, Tucker BA, Stone EM, Mullins RF, Scheetz TE. Molecular characterization of foveal versus peripheral human retina by single-cell RNA sequencing. Experimental Eye Research. PMID 31075224 DOI: 10.1016/J.Exer.2019.05.001  0.375
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  0.329
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  0.345
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  0.303
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  0.353
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  0.463
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  0.662
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  0.463
2018 Han IC, Critser DB, Stone EM. Swept-Source OCT of a Macular Coloboma in NMNAT1-Leber Congenital Amaurosis. Ophthalmology. Retina. 2: 1040. PMID 31047491 DOI: 10.1016/J.Oret.2018.07.009  0.323
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  0.324
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  0.663
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  0.305
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  0.366
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  0.357
2018 Bakall B, Bryan JS, Stone EM, Small KW. CHOROIDAL NEOVASCULARIZATION IN NORTH CAROLINA MACULAR DYSTROPHY RESPONSIVE TO ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR THERAPY. Retinal Cases & Brief Reports. PMID 30383557 DOI: 10.1097/Icb.0000000000000838  0.314
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  0.306
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  0.69
2018 Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV. Expanded retinal disease spectrum associated with autosomal recessive mutations in GUCY2D. American Journal of Ophthalmology. PMID 29559409 DOI: 10.1016/J.Ajo.2018.03.021  0.505
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  0.32
2018 Schnieders MJ, Goar W, Griess M, Roos BR, Scheetz TE, Stone EM, Fingert JH. A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree. Eye (London, England). PMID 29350691 DOI: 10.1038/Eye.2017.303  0.639
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 DOI: 10.18103/Mra.V5I9.1526  0.448
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  0.407
2017 Song H, Rossi EA, Stone E, Latchney L, Williams D, Dubra A, Chung M. Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging. The British Journal of Ophthalmology. PMID 29074494 DOI: 10.1136/Bjophthalmol-2017-310498  0.478
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  0.613
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  0.64
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  0.356
2017 Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, McCague S, Cross D, Marshall KA, Walshire J, Kehoe TL, Reichert H, ... ... Stone E, et al. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. Lancet (London, England). PMID 28712537 DOI: 10.1016/S0140-6736(17)31868-8  0.363
2017 McGuigan DB, Heon E, Cideciyan AV, Ratnapriya R, Lu M, Sumaroka A, Roman AJ, Batmanabane V, Garafalo AV, Stone EM, Swaroop A, Jacobson SG. EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression. Genes. 8. PMID 28704921 DOI: 10.3390/Genes8070178  0.487
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  0.468
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  0.421
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  0.693
2017 Jacobson SG, Cideciyan AV, Sumaroka A, Roman AJ, Charng J, Lu M, Choi W, Sheplock R, Swider M, Kosyk MS, Schwartz SB, Stone EM, Fishman GA. Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene. Investigative Ophthalmology & Visual Science. 58: 2609-2622. PMID 28510626 DOI: 10.1167/Iovs.17-21560  0.375
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  0.328
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  0.47
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  0.329
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  0.439
2017 Tompson SW, Johnson C, Abbott D, Bakall B, Soler V, Yanovitch TL, Whisenhunt KN, Klemm T, Rozen S, Stone EM, Johnson M, Young TL. Reduced penetrance in a large Caucasian pedigree with Stickler syndrome. Ophthalmic Genetics. 1-8. PMID 28095098 DOI: 10.1080/13816810.2016.1275018  0.422
2017 Chung DD, Frausto RF, Cervantes AE, Gee KM, Zakharevich M, Hanser EM, Stone EM, Heon E, Aldave AJ. Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1. Plos One. 12: e0169215. PMID 28046031 DOI: 10.1371/Journal.Pone.0169215  0.404
2016 Chirco KR, Sohn EH, Stone EM, Tucker BA, Mullins RF. Structural and molecular changes in the aging choroid: implications for age-related macular degeneration. Eye (London, England). PMID 27716746 DOI: 10.1038/Eye.2016.216  0.394
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  0.419
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  0.347
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  0.382
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  0.307
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  0.34
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  0.664
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  0.448
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  0.443
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  0.69
2016 Wiley LA, Kaalberg EE, Penticoff JA, Mullins RF, Stone EM, Tucker BA. Expression of the retina-specific flippase, ABCA4, in epidermal keratinocytes F1000research. 5: 193. DOI: 10.12688/F1000Research.8089.1  0.5
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  0.346
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  0.314
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  0.436
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  0.388
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  0.321
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  0.31
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  0.679
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  0.53
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  0.668
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  0.396
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  0.531
2015 Song H, Rossi EA, Latchney L, Bessette A, Stone E, Hunter JJ, Williams DR, Chung M. Cone and rod loss in Stargardt disease revealed by adaptive optics scanning light ophthalmoscopy. Jama Ophthalmology. 133: 1198-203. PMID 26247787 DOI: 10.1001/Jamaophthalmol.2015.2443  0.453
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  0.439
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  0.387
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  0.333
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  0.413
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  0.486
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  0.678
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  0.622
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  0.394
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  0.446
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  0.398
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  0.416
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  0.42
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  0.418
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  0.388
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  0.62
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  0.691
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  0.375
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  0.475
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  0.444
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  0.432
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  0.472
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  0.312
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  0.375
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  0.422
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  0.351
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  0.55
2014 Tzu JH, Arguello T, Berrocal AM, Berrocal M, Weisman AD, Liu M, Hess D, Caputo M, Goldberg JL, Feuer WJ, Stone EM, Lam BL. Clinical and Electrophysiologic Characteristics of a Large Kindred with X-linked Retinitis Pigmentosa Associated with the RPGR Locus. Ophthalmic Genetics. PMID 24555744 DOI: 10.3109/13816810.2014.886267  0.404
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  0.441
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  0.363
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  0.337
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  0.445
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  0.422
2014 Wojno A, Drivas T, Tucker B, Stone E, Bennett J. Basel exon skipping - a novel model of disease pathogenesis to explain CEP290-associated retinal degeneration and related ciliopathies Journal of Vision. 14: 85-85. DOI: 10.1167/14.15.85  0.421
2014 Gertsch KR, Larson SA, Longmuir SQ, Olson RJ, Stone EM, Drack AV. PAX6-associated congenital cataracts without aniridia Journal of American Association For Pediatric Ophthalmology and Strabismus. 18: e29-e30. DOI: 10.1016/J.Jaapos.2014.07.096  0.31
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  0.398
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  0.3
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  0.317
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  0.454
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  0.709
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  0.391
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  0.361
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  0.353
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  0.636
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  0.675
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  0.307
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  0.418
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  0.5
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  0.654
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  0.336
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  0.483
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  0.352
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  0.589
2013 Tucker BA, Mullins RF, Streb LM, Anfinson K, Eyestone ME, Kaalberg E, Riker MJ, Drack AV, Braun TA, Stone EM. Author response: Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa Elife. DOI: 10.7554/Elife.00824.015  0.381
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  0.697
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  0.444
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  0.339
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  0.338
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  0.663
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  0.345
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  0.623
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  0.311
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  0.837
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  0.31
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  0.41
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  0.397
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  0.314
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  0.438
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  0.448
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  0.357
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  0.535
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  0.379
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  0.443
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  0.444
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  0.384
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  0.412
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  0.458
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  0.348
2011 Sheffield VC, Stone EM. Genomics and the eye. The New England Journal of Medicine. 364: 1932-42. PMID 21591945 DOI: 10.1056/Nejmra1012354  0.309
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  0.66
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  0.394
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  0.648
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  0.589
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  0.427
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  0.789
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  0.374
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  0.499
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  0.449
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  0.483
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  0.5
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  0.798
2011 Kardon R, Anderson SC, Damarjian TG, Grace EM, Stone E, Kawasaki A. Chromatic pupillometry in patients with retinitis pigmentosa. Ophthalmology. 118: 376-81. PMID 20869119 DOI: 10.1016/J.Ophtha.2010.06.033  0.385
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  0.544
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  0.466
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  0.499
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  0.555
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  0.613
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  0.45
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  0.493
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  0.356
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  0.395
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  0.808
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  0.371
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  0.442
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  0.597
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  0.568
2010 Fingert JH, Roos B, Eyestone ME, Pham JD, Mellot ML, Stone E. Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus. Ophthalmic Genetics. 31: 77-80. PMID 20450309 DOI: 10.3109/13816810903584989  0.659
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  0.501
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  0.388
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  0.73
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  0.39
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  0.445
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  0.312
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  0.459
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  0.359
2009 Maguire AM, High KA, Auricchio A, Wright JF, Pierce EA, Testa F, Mingozzi F, Bennicelli JL, Ying GS, Rossi S, Fulton A, Marshall KA, Banfi S, Chung DC, Morgan JI, ... Stone E, et al. Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet. 374: 1597-605. PMID 19854499 DOI: 10.1016/S0140-6736(09)61836-5  0.422
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  0.303
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  0.426
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  0.719
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  0.43
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  0.504
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  0.489
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  0.485
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  0.389
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  0.803
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  0.474
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  0.454
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  0.345
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  0.409
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  0.427
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  0.439
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  0.352
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  0.412
2009 Lotery AJ, Cree AJ, Stone EM, Ennis S. The SERPING1 gene and age-related macular degeneration - Authors' reply The Lancet. 374: 876-877. DOI: 10.1016/S0140-6736(09)61619-6  0.349
2008 Ennis S, Jomary C, Mullins R, Cree A, Chen X, MacLeod A, Jones S, Collins A, Stone E, Lotery A. Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study The Lancet. 372: 1828-1834. PMID 18842294 DOI: 10.1016/S0140-6736(08)61348-3  0.42
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  0.422
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  0.71
2008 Hayreh SS, Fingert JH, Stone E, Jacobson DM. Familial non-arteritic anterior ischemic optic neuropathy. Graefe's Archive For Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv FüR Klinische Und Experimentelle Ophthalmologie. 246: 1295-305. PMID 18587597 DOI: 10.1007/S00417-008-0853-0  0.596
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  0.421
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  0.672
2008 Maguire AM, Simonelli F, Pierce EA, Pugh EN, Mingozzi F, Bennicelli J, Banfi S, Marshall KA, Testa F, Surace EM, Rossi S, Lyubarsky A, Arruda VR, Konkle B, Stone E, et al. Safety and efficacy of gene transfer for Leber's congenital amaurosis. The New England Journal of Medicine. 358: 2240-8. PMID 18441370 DOI: 10.1056/Nejmoa0802315  0.466
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  0.708
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  0.491
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  0.678
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  0.764
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  0.493
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  0.597
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  0.5
2007 Bozbeyoglu S, Fishman GA, Stone EM, MacDonald IM, Streb LM. De novo mutation in a choroideremia carrier. Retinal Cases & Brief Reports. 1: 182-4. PMID 25390790 DOI: 10.1097/Icb.0B013E31804D1De0  0.438
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  0.402
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  0.612
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  0.562
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  0.432
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  0.359
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  0.416
2007 Jacobson SG, Aleman TS, Cideciyan AV, Heon E, Golczak M, Beltran WA, Sumaroka A, Schwartz SB, Roman AJ, Windsor EA, Wilson JM, Aguirre GD, Stone EM, Palczewski K. Human cone photoreceptor dependence on RPE65 isomerase. Proceedings of the National Academy of Sciences of the United States of America. 104: 15123-8. PMID 17848510 DOI: 10.1073/Pnas.0706367104  0.432
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  0.475
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  0.461
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  0.438
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  0.428
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  0.479
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  0.414
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  0.473
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  0.608
2007 Cideciyan AV, Swider M, Aleman TS, Roman MI, Sumaroka A, Schwartz SB, Stone EM, Jacobson SG. Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations. Journal of the Optical Society of America. a, Optics, Image Science, and Vision. 24: 1457-67. PMID 17429493 DOI: 10.1364/Josaa.24.001457  0.386
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  0.756
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  0.657
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  0.732
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  0.404
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  0.481
2007 Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Schwartz SB, Roman AJ, Stone EM. Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential. Ophthalmology. 114: 895-8. PMID 17306875 DOI: 10.1016/J.Ophtha.2006.10.028  0.5
2007 Stone EM. Genetic testing for inherited eye disease. Archives of Ophthalmology (Chicago, Ill. : 1960). 125: 205-12. PMID 17296896 DOI: 10.1001/Archopht.125.2.205  0.322
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  0.334
2007 Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Schwartz SB, Windsor EA, Roman AJ, Heon E, Stone EM, Thompson DA. RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression. Investigative Ophthalmology & Visual Science. 48: 332-8. PMID 17197551 DOI: 10.1167/Iovs.06-0599  0.519
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  0.674
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  0.4
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  0.422
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  0.669
2006 Traboulsi EI, Koenekoop R, Stone EM. Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis. Ophthalmic Genetics. 27: 113-5. PMID 17148037 DOI: 10.1080/13816810601013146  0.396
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  0.508
2006 Stone EM. A very effective treatment for neovascular macular degeneration. The New England Journal of Medicine. 355: 1493-5. PMID 17021326 DOI: 10.1056/Nejme068191  0.32
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  0.422
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  0.512
2006 Jacobson SG, Cideciyan AV, Sumaroka A, Aleman TS, Schwartz SB, Windsor EA, Roman AJ, Stone EM, MacDonald IM. Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. Investigative Ophthalmology & Visual Science. 47: 4113-20. PMID 16936131 DOI: 10.1167/Iovs.06-0424  0.484
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  0.599
2006 Apushkin MA, Fishman GA, Taylor CM, Stone EM. Novel de novo mutation in a patient with Best macular dystrophy. Archives of Ophthalmology (Chicago, Ill. : 1960). 124: 887-9. PMID 16769844 DOI: 10.1001/Archopht.124.6.887  0.472
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  0.662
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  0.571
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  0.393
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  0.479
2006 Lotery AJ, Baas D, Ridley C, Jones RP, Klaver CC, Stone E, Nakamura T, Luff A, Griffiths H, Wang T, Bergen AA, Trump D. Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. Human Mutation. 27: 568-74. PMID 16652333 DOI: 10.1002/Humu.20344  0.458
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  0.409
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  0.365
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  0.688
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  0.482
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  0.455
2005 Stone EM. Challenges in genetic testing for clinical trials of inherited and orphan retinal diseases. Retina (Philadelphia, Pa.). 25: S72-S73. PMID 16374347 DOI: 10.1097/00006982-200512001-00034  0.367
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  0.515
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  0.457
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  0.485
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  0.352
2005 Francis PJ, Fishman GA, Trzupek KM, MacDonald IM, Stone EM, Weleber RG. Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram. Archives of Ophthalmology (Chicago, Ill. : 1960). 123: 1146-9. PMID 16087855 DOI: 10.1001/Archopht.123.8.1146  0.44
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  0.493
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  0.452
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  0.369
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  0.446
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  0.391
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  0.511
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  0.375
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  0.423
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  0.338
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  0.418
2004 Grover S, Fishman GA, Stone EM. A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa. Ophthalmology. 111: 1910-6. PMID 15465556 DOI: 10.1016/J.Ophtha.2004.03.039  0.53
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  0.481
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  0.459
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  0.404
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  0.478
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  0.395
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  0.415
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  0.382
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  0.32
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  0.412
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  0.455
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  0.417
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 DOI: 10.1016/S0002-9394(03)00577-4  0.395
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  0.664
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  0.462
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  0.512
2003 Fishman GA, Stone EM, Eliason DA, Taylor CM, Lindeman M, Derlacki DJ. ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. Archives of Ophthalmology (Chicago, Ill. : 1960). 121: 851-5. PMID 12796258 DOI: 10.1001/Archopht.121.6.851  0.493
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  0.404
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  0.479
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  0.391
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  0.468
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 DOI: 10.1016/S0002-9394(02)02061-5  0.457
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  0.475
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  0.459
2003 Braun TA, Scheetz TE, Webster G, Clark A, Stone EM, Sheffield VC, Casavant TL. Identifying candidate disease genes with high-performance computing Journal of Supercomputing. 26: 7-24. DOI: 10.1023/A:1024417200364  0.348
2003 Pinto LH, Grabowski N, Kibbe WA, Lotery A, Lumayag S, Mullens R, Stone E, Siepka S, Vitatema MH, Sheffield V, Takahashi JS. Chemically Induced Mutations in the Mouse that Affect the Fundus and Electroretinogram The Keio Journal of Medicine. 51: 188-189. DOI: 10.1007/978-4-431-68447-3_66  0.336
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  0.693
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  0.402
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 DOI: 10.1001/Archopht.120.9.1189  0.649
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  0.454
2002 Grover S, Fishman GA, Stone EM. Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations. Ophthalmology. 109: 1110-7. PMID 12045052 DOI: 10.1016/S0161-6420(02)01029-1  0.385
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  0.442
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 DOI: 10.1093/Hmg/11.9.1029  0.495
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  0.376
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 DOI: 10.1001/Archopht.120.3.376  0.528
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 DOI: 10.1097/00061198-200202000-00010  0.431
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  0.445
2002 Black GCM, Biswas S, Munier FL, Stone EM, Bonshek R, McLeod D. Mutations in COL8A2, the Gene Encoding the α2 Chain of Type VIII Collagen, Cause Two Forms of Corneal Endothelial Dystrophy Clinical Science. 103: 69P-70P. DOI: 10.1042/Cs103069Pb  0.382
2001 Milam AH, De Castro EB, Smith JE, Tang WX, John SK, Gorin MB, Stone EM, Aguirre GD, Jacobson SG. Concentric retinitis pigmentosa: clinicopathologic correlations. Experimental Eye Research. 73: 493-508. PMID 11825021 DOI: 10.1006/Exer.2001.1059  0.434
2001 Chung MM, Oh KT, Streb LM, Kimura AE, Stone EM. Visual outcome following subretinal hemorrhage in Best disease. Retina (Philadelphia, Pa.). 21: 575-80. PMID 11756879 DOI: 10.1097/00006982-200112000-00003  0.392
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 DOI: 10.1097/00061198-200112000-00007  0.474
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  0.55
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  0.319
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 DOI: 10.1001/Archopht.119.11.1659  0.371
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 DOI: 10.1093/Hmg/10.21.2415  0.434
2001 Stone EM, Sheffield VC, Hageman GS. Molecular genetics of age-related macular degeneration. Human Molecular Genetics. 10: 2285-92. PMID 11673412 DOI: 10.1093/Hmg/10.20.2285  0.447
2001 Donoso LA, Edwards AO, Frost A, Vrabec T, Stone EM, Hageman GS, Perski T. Autosomal dominant Stargardt-like macular dystrophy. Survey of Ophthalmology. 46: 149-63. PMID 11578648 DOI: 10.1016/S0039-6257(01)00251-X  0.465
2001 Lotery AJ, Malik A, Shami SA, Sindhi M, Chohan B, Maqbool C, Moore PA, Denton MJ, Stone EM. CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation. Ophthalmic Genetics. 22: 163-9. PMID 11559858 DOI: 10.1076/Opge.22.3.163.2222  0.514
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  0.665
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  0.541
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  0.429
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  0.36
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 DOI: 10.1001/Archopht.119.5.745  0.428
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 DOI: 10.1096/Fj.00-0663Fje  0.619
2001 Donoso LA, Frost AT, Stone EM, Weleber RG, MacDonald IM, Hageman GS, Cibis GW, Ritter R, Edwards AO. Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity. Archives of Ophthalmology (Chicago, Ill. : 1960). 119: 564-70. PMID 11296022 DOI: 10.1001/Archopht.119.4.564  0.398
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 DOI: 10.1093/Hmg/10.8.865  0.411
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 DOI: 10.1001/Archopht.119.3.415  0.47
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  0.48
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 DOI: 10.1093/Hmg/10.2.117  0.649
2000 Miano MG, Jacobson SG, Carothers A, Hanson I, Teague P, Lovell J, Cideciyan AV, Haider N, Stone EM, Sheffield VC, Wright AF. Pitfalls in homozygosity mapping. American Journal of Human Genetics. 67: 1348-51. PMID 11007652 DOI: 10.1016/S0002-9297(07)62966-8  0.344
2000 Oh KT, Weleber RG, Lotery A, Oh DM, Billingslea AM, Stone EM. Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation Archives of Ophthalmology. 118: 1269-1276. PMID 10980774 DOI: 10.1001/Archopht.118.9.1269  0.472
2000 Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG. Mutations in MKKS cause Bardet-Biedl syndrome. Nature Genetics. 26: 15-6. PMID 10973238 DOI: 10.1038/79116  0.432
2000 Van Hooser JP, Aleman TS, He YG, Cideciyan AV, Kuksa V, Pittler SJ, Stone EM, Jacobson SG, Palczewski K. Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. Proceedings of the National Academy of Sciences of the United States of America. 97: 8623-8. PMID 10869443 DOI: 10.1073/Pnas.150236297  0.46
2000 Lotery AJ, Namperumalsamy P, Jacobson SG, Weleber RG, Fishman GA, Musarella MA, Hoyt CS, Héon E, Levin A, Jan J, Lam B, Carr RE, Franklin A, Radha S, Andorf JL, ... Stone EM, et al. Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Archives of Ophthalmology (Chicago, Ill. : 1960). 118: 538-43. PMID 10766140 DOI: 10.1001/Archopht.118.4.538  0.446
2000 Williams-Lyn D, Flanagan J, Buys Y, Trope GE, Fingert J, Stone EM, Héon E. The genetic aspects of adult-onset glaucoma: a perspective from the Greater Toronto area. Canadian Journal of Ophthalmology-Journal Canadien D Ophtalmologie. 35: 12-17. PMID 10711378 DOI: 10.1016/S0008-4182(00)80103-9  0.696
2000 Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, ... Stone EM, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nature Genetics. 24: 127-31. PMID 10655056 DOI: 10.1038/72777  0.462
2000 Ghiasvand NM, Kanis AB, Helms C, Sheffield VC, Stone EM, Donis-Keller H. Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21. American Journal of Medical Genetics. 90: 165-8. PMID 10607958 DOI: 10.1002/(Sici)1096-8628(20000117)90:2<165::Aid-Ajmg15>3.0.Co;2-O  0.341
2000 Williams-Lyn D, Flanagan J, Buys Y, Trope GE, Fingert J, Stone EM, Heon E. The genetic aspects of adult-onset glaucoma: A perspective from the Greater Toronto area Canadian Journal of Ophthalmology. 35: 12-17.  0.512
1999 El-Shanti H, Al-Salem M, El-Najjar M, Ajlouni K, Beck J, Sheffield VC, Stone EM. A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan [3] Journal of Medical Genetics. 36: 862-865. PMID 10636733 DOI: 10.1136/Jmg.36.11.862  0.514
1999 Kanis AB, Al-Rajhi AA, Taylor CM, Mathers WD, Folberg R, Nishimura DY, Sheffield VC, Stone EM. Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci Ophthalmic Genetics. 20: 243-249. PMID 10617922 DOI: 10.1076/Opge.20.4.243.2273  0.308
1999 Mellott ML, Brown J, Fingert JH, Taylor CM, Keech RV, Sheffield VC, Stone EM. Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly. Archives of Ophthalmology (Chicago, Ill. : 1960). 117: 1630-3. PMID 10604668 DOI: 10.1001/Archopht.117.12.1630  0.67
1999 Haider NB, Searby C, Galperin E, Mintz L, Horowitz M, Stone EM, Sheffield VC. Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1). Gene. 240: 227-32. PMID 10564830 DOI: 10.1016/S0378-1119(99)00395-9  0.474
1999 Swiderski RE, Reiter RS, Nishimura DY, Alward WLM, Kalenak JW, Searby CS, Stone EM, Sheffield VC, Lin JJC. Expression of the Mf1 gene in developing mouse hearts: Implication in the development of human congenital heart defects Developmental Dynamics. 216: 16-27. PMID 10474162 DOI: 10.1002/(Sici)1097-0177(199909)216:1<16::Aid-Dvdy4>3.0.Co;2-1  0.319
1999 Stone EM, Lotery AJ, Munier FL, Héon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, et al. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy Nature Genetics. 22: 199-202. PMID 10369267 DOI: 10.1038/9722  0.547
1999 Swiderski RE, Ying L, Cassell MD, Alward WL, Stone EM, Sheffield VC. Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain. Brain Research. Molecular Brain Research. 68: 64-72. PMID 10320784 DOI: 10.1016/S0169-328X(99)00085-6  0.32
1999 Fishman GA, Stone EM, Grover S, Derlacki DJ, Haines HL, Hockey RR. Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. Archives of Ophthalmology (Chicago, Ill. : 1960). 117: 504-10. PMID 10206579 DOI: 10.1001/Archopht.117.4.504  0.367
1999 Fingert JH, Héon E, Liebmann JM, Yamamoto T, Craig JE, Rait J, Kawase K, Hoh ST, Buys YM, Dickinson J, Hockey RR, Williams-Lyn D, Trope G, Kitazawa Y, Ritch R, ... ... Stone EM, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Human Molecular Genetics. 8: 899-905. PMID 10196380 DOI: 10.1093/Hmg/8.5.899  0.656
1999 Millá E, Héon E, Grounauer PA, Piguet B, Ducrey N, Stone EM, Schorderet DF, Munier FL. Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa. Ophthalmic Genetics. 19: 131-9. PMID 9810568 DOI: 10.1076/Opge.19.3.131.2183  0.479
1998 Sheffield VC, Stone EM, Carmi R. Use of isolated inbred human populations for identification of disease genes. Trends in Genetics : Tig. 14: 391-6. PMID 9820027 DOI: 10.1016/S0168-9525(98)01556-X  0.304
1998 Jacobson DM, Stone EM, Miller NR, Pollock SC, Fletcher WA, McNussen PJ, Martin TJ. Relative afferent pupillary defects in patients with Leber hereditary optic neuropathy and unilateral visual loss. American Journal of Ophthalmology. 126: 291-5. PMID 9727524 DOI: 10.1016/S0002-9394(98)00152-4  0.353
1998 Stone EM. Expanding the repertoire of RP genes. Nature Genetics. 19: 311-3. PMID 9697684 DOI: 10.1038/1192  0.381
1998 Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nature Genetics. 19: 140-7. PMID 9620769 DOI: 10.1038/493  0.426
1998 Cideciyan AV, Hood DC, Huang Y, Banin E, Li ZY, Stone EM, Milam AH, Jacobson SG. Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. Proceedings of the National Academy of Sciences of the United States of America. 95: 7103-8. PMID 9618546 DOI: 10.1073/Pnas.95.12.7103  0.471
1998 Howe JR, Roth S, Ringold JC, Summers RW, Järvinen HJ, Sistonen P, Tomlinson IP, Houlston RS, Bevan S, Mitros FA, Stone EM, Aaltonen LA. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science (New York, N.Y.). 280: 1086-8. PMID 9582123 DOI: 10.1126/Science.280.5366.1086  0.415
1998 Fingert JH, Ying L, Swiderski RE, Nystuen AM, Arbour NC, Alward WL, Sheffield VC, Stone EM. Characterization and comparison of the human and mouse GLC1A glaucoma genes. Genome Research. 8: 377-84. PMID 9548973 DOI: 10.1101/Gr.8.4.377  0.616
1998 Howe JR, Ringold JC, Summers RW, Mitros FA, Nishimura DY, Stone EM. A gene for familial juvenile polyposis maps to chromosome 18q21.1. American Journal of Human Genetics. 62: 1129-36. PMID 9545410 DOI: 10.1086/301840  0.349
1998 Freund CL, Wang QL, Chen S, Muskat BL, Wiles CD, Sheffield VC, Jacobson SG, McInnes RR, Zack DJ, Stone EM. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nature Genetics. 18: 311-2. PMID 9537410 DOI: 10.1038/Ng0498-311  0.444
1998 Alward WL, Fingert JH, Coote MA, Johnson AT, Lerner SF, Junqua D, Durcan FJ, McCartney PJ, Mackey DA, Sheffield VC, Stone EM. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) The New England Journal of Medicine. 338: 1022-7. PMID 9535666 DOI: 10.1056/Nejm199804093381503  0.697
1998 Alward WL, Semina EV, Kalenak JW, Héon E, Sheth BP, Stone EM, Murray JC. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. American Journal of Ophthalmology. 125: 98-100. PMID 9437321 DOI: 10.1016/S0002-9394(99)80242-6  0.433
1998 Scott DA, Kraft ML, Stone EM, Sheffield VC, Smith RJ. Connexin mutations and hearing loss. Nature. 391: 32. PMID 9422505 DOI: 10.1038/34079  0.388
1998 Howe J, Ringold J, Summers R, Mitros F, Nishimura D, Stone E. The gene for familial juvenile polyposis maps to chromosome 18q21 Gastroenterology. 114: A613. DOI: 10.1016/S0016-5085(98)82502-X  0.349
1997 Lam BL, Fingert JH, Shutt BC, Singleton EM, Merin LM, Brown HH, Sheffield VC, Stone EM. Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1) Ophthalmic Genetics. 18: 175-84. PMID 9457748 DOI: 10.3109/13816819709041432  0.69
1997 Swain PK, Chen S, Wang QL, Affatigato LM, Coats CL, Brady KD, Fishman GA, Jacobson SG, Swaroop A, Stone E, Sieving PA, Zack DJ. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron. 19: 1329-36. PMID 9427255 DOI: 10.1016/S0896-6273(00)80423-7  0.511
1997 Park DW, Polk TD, Stone EM. Fluctuating vision in Best disease. Archives of Ophthalmology (Chicago, Ill. : 1960). 115: 1469-70. PMID 9366684 DOI: 10.1001/Archopht.1997.01100160639022  0.361
1997 Weleber RG, Butler NS, Murphey WH, Sheffield VC, Stone EM. X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR Archives of Ophthalmology. 115: 1429-1435. PMID 9366675 DOI: 10.1001/Archopht.1997.01100160599013  0.482
1997 Walder RY, Shalev H, Brennan TM, Carmi R, Elbedour K, Scott DA, Hanauer A, Mark AL, Patil S, Stone EM, Sheffield VC. Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint. Human Molecular Genetics. 6: 1491-7. PMID 9285786 DOI: 10.1093/Hmg/6.9.1491  0.348
1997 Arbour NC, Zlotogora J, Knowlton RG, Merin S, Rosenmann A, Kanis AB, Rokhlina T, Stone EM, Sheffield VC. Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling Human Molecular Genetics. 6: 689-694. PMID 9158143 DOI: 10.1093/Hmg/6.5.689  0.386
1997 Nystuen A, Costeff H, Elpeleg ON, Apter N, Bonné-Tamir B, Mohrenweiser H, Haider N, Stone EM, Sheffield VC. Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene. Human Molecular Genetics. 6: 563-9. PMID 9097959 DOI: 10.1093/Hmg/6.4.563  0.375
1997 Fishman GA, Stone EM, Alexander KR, Gilbert LD, Derlacki DJ, Butler NS. Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy. Ophthalmology. 104: 299-306. PMID 9052636 DOI: 10.1016/S0161-6420(97)30320-0  0.469
1997 Brown J, Fingert JH, Taylor CM, Lake M, Sheffield VC, Stone EM. Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1) Archives of Ophthalmology (Chicago, Ill. : 1960). 115: 95-9. PMID 9006432 DOI: 10.1001/Archopht.1997.01100150097016  0.645
1997 Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF, Nystuen A, Nichols BE, Mackey DA, Ritch R, Kalenak JW, Craven ER, Sheffield VC. Identification of a gene that causes primary open angle glaucoma. Science (New York, N.Y.). 275: 668-70. PMID 9005853 DOI: 10.1126/Science.275.5300.668  0.69
1997 Sheffield VC, Pierpont ME, Nishimura D, Beck JS, Burns TL, Berg MA, Stone EM, Patil SR, Lauer RM. Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis Human Molecular Genetics. 6: 117-121. PMID 9002679 DOI: 10.1093/Hmg/6.1.117  0.365
1996 Piguet B, Héon E, Munier FL, Grounauer PA, Niemeyer G, Butler N, Schorderet DF, Sheffield VC, Stone EM. Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene. Ophthalmic Genetics. 17: 175-86. PMID 9010868 DOI: 10.3109/13816819609057891  0.517
1996 Jacobson SG, Cideciyan AV, Maguire AM, Bennett J, Sheffield VC, Stone EM. Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS gene Experimental Eye Research. 63: 603-608. PMID 8994365 DOI: 10.1006/Exer.1996.0152  0.463
1996 Sunden SLF, Alward WLM, Nichols BE, Rokhlina TR, Nystuen A, Stone EM, Sheffield VC. Fine mapping of the autosomal dominant Juvenile Open Angle Glaucoma (GLC1A) region and evaluation of candidate genes Genome Research. 6: 862-869. PMID 8889553 DOI: 10.1101/Gr.6.9.862  0.334
1996 Nystuen A, Benke PJ, Merren J, Stone EM, Sheffield VC. A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands Human Molecular Genetics. 5: 525-531. PMID 8845847 DOI: 10.1093/Hmg/5.4.525  0.332
1996 Sheffield VC, Kraiem Z, Beck JC, Nishimura D, Stone EM, Salameh M, Sadeh O, Glaser B. Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification Nature Genetics. 12: 424-426. PMID 8630498 DOI: 10.1038/Ng0496-424  0.343
1996 Héon E, Piguet B, Munier F, Sneed SR, Morgan CM, Forni S, Pescia G, Schorderet D, Taylor CM, Streb LM, Wiles CD, Nishimura DY, Sheffield VC, Stone EM. Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. Archives of Ophthalmology (Chicago, Ill. : 1960). 114: 193-8. PMID 8573024 DOI: 10.1001/Archopht.1996.01100130187014  0.324
1995 Bascom RA, Liu L, Heckenlively JR, Stone EM, Mcinnes RR. Mutation analysis of the ROM1 gene in retinitis pigmentosa Human Molecular Genetics. 4: 1895-1902. PMID 8595413 DOI: 10.1093/Hmg/4.10.1895  0.494
1995 Carmi R, Elbedour K, Stone EM, Sheffield VC. Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. American Journal of Medical Genetics. 59: 199-203. PMID 8588586 DOI: 10.1002/Ajmg.1320590216  0.334
1995 Gorin MB, Jackson KE, Ferrell RE, Sheffield VC, Jacobson SG, Gass JD, Mitchell E, Stone EM. A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. Ophthalmology. 102: 246-55. PMID 7862413 DOI: 10.1016/S0161-6420(95)31029-9  0.523
1995 Lam BL, Vandenburgh K, Sheffield VC, Stone EM. Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop) American Journal of Ophthalmology. 119: 65-71. PMID 7825692 DOI: 10.1016/S0002-9394(14)73815-2  0.524
1995 Héon E, Mathers WD, Alward WL, Weisenthal RW, Sunden SL, Fishbaugh JA, Taylor CM, Krachmer JH, Sheffield VC, Stone EM. Linkage of posterior polymorphous corneal dystrophy to 20q11. Human Molecular Genetics. 4: 485-8. PMID 7795607 DOI: 10.1093/Hmg/4.3.485  0.4
1995 Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Human Molecular Genetics. 4: 9-13. PMID 7711739 DOI: 10.1093/Hmg/4.1.9  0.328
1995 Brown DM, Vandenburgh K, Kimura AE, Weingeist TA, Sheffield VC, Stone EM. Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with stickler syndrome (hereditary arthro-ophthalmopathy) Human Molecular Genetics. 4: 141-142. PMID 7711727 DOI: 10.1093/Hmg/4.1.141  0.426
1995 Héon E, Sheth BP, Kalenak JW, Sunden SL, Streb LM, Taylor CM, Alward WL, Sheffield VC, Stone EM. Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Human Molecular Genetics. 4: 1435-9. PMID 7581385 DOI: 10.1093/Hmg/4.8.1435  0.425
1995 Jacobson SG, Cideciyan AV, Regunath G, Rodriguez FJ, Vandenburgh K, Sheffield VC, Stone EM. Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. Nature Genetics. 11: 27-32. PMID 7550309 DOI: 10.1038/Ng0995-27  0.421
1995 Piguet B, Munier FL, Héon E, Pescia G, Schorderet DF, Stone E. 4122 Zermatt macular dystrophy: a new autosomal dominant phenotype and exclusion of known macular genes Vision Research. 35. DOI: 10.1016/0042-6989(95)90365-8  0.455
1995 Héon E, Sheth B, Kalenak J, Sunden S, Streb L, Taylor C, Munden P, Alward W, Sheffield V, Stone E. 3127 Linkage of autosomal dominant iris hypoplasia to the rieger syndrome locus (4q25) Vision Research. 35: S122. DOI: 10.1016/0042-6989(95)90258-9  0.306
1994 Brown DM, Kimura AE, Weingeist TA, Stone EM. Erosive vitreoretinopathy. A new clinical entity. Ophthalmology. 101: 694-704. PMID 8152765 DOI: 10.1016/S0161-6420(94)31276-0  0.36
1994 Stone EM, Mathers WD, Rosenwasser GO, Holland EJ, Folberg R, Krachmer JH, Nichols BE, Gorevic PD, Taylor CM, Streb LM. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nature Genetics. 6: 47-51. PMID 8136834 DOI: 10.1038/Ng0194-47  0.354
1994 Fishman GA, Stone E, Gilbert LD, Vandenburgh K, Sheffield VC, Heckenlively JR. Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa Ophthalmology. 101: 1409-1421. PMID 8058286 DOI: 10.1016/S0161-6420(94)31156-0  0.524
1994 Folberg R, Stone EM, Sheffield VC, Mathers WD. The Relationship Between Granular, Lattice Type 1, and Avellino Corneal Dystrophies: A Histopathologic Study Archives of Ophthalmology. 112: 1080-1085. PMID 8053822 DOI: 10.1001/Archopht.1994.01090200086027  0.414
1994 Stone EM, Nichols BE, Kimura AE, Weingeist TA, Drack A, Sheffield VC. Clinical Features of a Stargardt-Like Dominant Progressive Macular Dystrophy With Genetic Linkage to Chromosome 6q Archives of Ophthalmology. 112: 765-772. PMID 8002834 DOI: 10.1001/Archopht.1994.01090180063036  0.448
1994 Joos KM, Kimura AE, Vandenburgh K, Bartley JA, Stone EM. Ocular Findings Associated With a Cys39Arg Mutation in the Norrie Disease Gene Archives of Ophthalmology. 112: 1574-1579. PMID 7993212 DOI: 10.1001/Archopht.1994.01090240080029  0.452
1994 Feist RM, White MF, Skalka H, Stone EM. Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg) American Journal of Ophthalmology. 118: 259-60. PMID 7519821 DOI: 10.1016/S0002-9394(14)72913-7  0.484
1993 Sheffield VC, Stone EM, Alward WLM, Drack AV, Johnson AT, Streb LM, Nichols BE. Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31 Nature Genetics. 4: 47-50. PMID 8513321 DOI: 10.1038/Ng0593-47  0.368
1993 Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM. Butterfly–shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene Nature Genetics. 3: 202-207. PMID 8485574 DOI: 10.1038/Ng0393-202  0.532
1993 Johnson AT, Drack AV, Kwitek AE, Cannon RL, Stone EM, Alward WL. Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma. Ophthalmology. 100: 524-9. PMID 8479711 DOI: 10.1016/S0161-6420(13)31615-7  0.325
1993 Nichols BE, Drack AV, Vandenburgh K, Kimura AE, Sheffield VC, Stone EM. A 2 base bair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea Human Molecular Genetics. 2: 1347. PMID 8401530 DOI: 10.1093/Hmg/2.8.1347-A  0.349
1993 Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW, Stone EM. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics. 16: 325-32. PMID 8314571 DOI: 10.1006/Geno.1993.1193  0.381
1993 Kwitek-Black AE, Carmi R, Duyk GM, Buetow KH, Elbedour K, Parvari R, Yandava CN, Stone EM, Sheffield VC. Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nature Genetics. 5: 392-6. PMID 8298649 DOI: 10.1038/Ng1293-392  0.366
1993 Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM. Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene Archives of Ophthalmology. 111: 1531-1542. PMID 8240110 DOI: 10.1001/Archopht.1993.01090110097033  0.467
1993 Stone EM, Vandenburgh K, Nichols BE, Sheffield VC. Identification of Rhodopsin Gene Mutations Using GC-Clamped Denaturing Gradient Gel Electrophoresis Methods in Neurosciences. 15: 377-392. DOI: 10.1016/B978-0-12-185279-5.50033-9  0.35
1992 Fishman GA, Stone EM, Sheffield VC, Gilbert LD, Kimura AE. Ocular Findings Associated with Rhodopsin Gene Codon 17 and Codon 182 Transition Mutations in Dominant Retinitis Pigmentosa Archives of Ophthalmology. 110: 54-62. PMID 1731723 DOI: 10.1001/Archopht.1992.01080130056026  0.519
1992 Fishman GA, Stone EM, Gilbert LD, Sheffield VC. Ocular Findings Associated with a Rhodopsin Gene Codon 106 Mutation: Glycine-to-Arginine Change in Autosomal Dominant Retinitis Pigmentosa Archives of Ophthalmology. 110: 646-653. PMID 1580841 DOI: 10.1001/Archopht.1992.01080170068026  0.493
1992 Holland EJ, Daya SM, Stone EM, Folberg R, Dobler AA, Cameron JD, Doughman DJ. Avellino corneal dystrophy: Clinical manifestations and natural history Ophthalmology. 99: 1564-1568. PMID 1454323 DOI: 10.1016/S0161-6420(92)31766-X  0.343
1992 Brown DM, Nichols BE, Weingeist TA, Sheffield VC, Kimura AE, Stone EM. Procollagen II Gene Mutation in Stickler Syndrome Archives of Ophthalmology. 110: 1589-1593. PMID 1444917 DOI: 10.1001/Archopht.1992.01080230089027  0.459
1992 Fishman GA, Vandenburgh K, Stone EM, Gilbert LD, Alexander KR, Sheffield VC. Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa. Archives of Ophthalmology (Chicago, Ill. : 1960). 110: 1582-8. PMID 1444916 DOI: 10.1001/Archopht.1992.01080230082026  0.505
1992 Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13 Nature Genetics. 1: 246-250. PMID 1302019 DOI: 10.1038/Ng0792-246  0.431
1992 Stone EM, Kimura AE, Folk JC, Bennett SR, Nichols BE, Streb LM, Sheffield VC. Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13 Human Molecular Genetics. 1: 685-689. PMID 1284594 DOI: 10.1093/Hmg/1.9.685  0.435
1991 Fishman GA, Stone EM, Gilbert LD, Kenna P, Sheffield VC. Ocular Findings Associated With a Rhodopsin Gene Codon 58 Transversion Mutation in Autosomal Dominant Retinitis Pigmentosa Archives of Ophthalmology. 109: 1387-1393. PMID 1929926 DOI: 10.1001/Archopht.1991.01080100067044  0.512
1991 Stone EM, Kimura AE, Nichols BE, Khadivi P, Fishman GA, Sheffield VC. Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene Ophthalmology. 98: 1806-1813. PMID 1775314 DOI: 10.1016/S0161-6420(91)32046-3  0.509
1990 Bennett SR, Folk JC, Kimura AE, Russell SR, Stone EM, Raphtis EM. Autosomal dominant neovascular inflammatory vitreoretinopathy Ophthalmology. 97: 1125-1135. PMID 2234842 DOI: 10.1016/S0161-6420(90)32447-8  0.447
1990 Stone EM, Coppinger JM, Kardon RH, Donelson J. Mae III Positively Detects the Mitochondrial Mutation Associated With Type I Leber's Hereditary Optic Neuropathy Archives of Ophthalmology. 108: 1417-1420. PMID 1977373 DOI: 10.1001/Archopht.1990.01070120065030  0.411
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