Ophthalmology And Visual Sciences

Edwin M. Stone, MD, PhD

Portrait

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

Contact Information

Primary Office: 4111  MERF
Iowa City, IA 52242
Primary Office Phone: 319-335-8270

Email: edwin-stone@uiowa.edu
Web: The Wynn Institute for Vision Research

Education

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

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

Licensure and Certifications

Iowa Medical License Iowa Board of Medical Examiners
NBME Diplomate National Board of Medical Examiners
ABO Certification American Board of Ophthalmology

Education/Training Program Affiliations

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

Research Summary

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

Center, Program and Institute Affiliations

Carver Family Center for Macular Degeneration
John and Marcia Carver Nonprofit Genetic Testing Laboratory
Stephen A. Wynn Institute for Vision Research

All Publications

Brownstein C, 64 intervening authors , Stone E, 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.  2014. 15(3):R53.
[PubMed]

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

Burnight E, Wiley L, Drack A, Braun T, Anfinson K, Kaalberg E, Halder J, Affatigato L, Mullins R, Stone E, Tucker B.  CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.  Gene Ther.  2014. 21(7):662-72.
[PubMed]

Tzu J, Arguello T, Berrocal A, Berrocal M, Weisman A, Liu M, Hess D, Caputo M, Goldberg J, Feuer W, Stone E, Lam B.  Clinical and Electrophysiologic Characteristics of a Large Kindred with X-linked Retinitis Pigmentosa Associated with the RPGR Locus.  Ophthalmic Genet.  2014. 
[PubMed]

Huang W, Cideciyan A, Roman A, Sumaroka A, Sheplock R, Schwartz S, Stone E, Jacobson S.  Inner and Outer Retinal Changes in Retinal Degenerations Associated With ABCA4 Mutations.  Invest Ophthalmol Vis Sci.  2014. 55(3):1810-22.
[PubMed]

Mullins R, Khanna A, Schoo D, Tucker B, Sohn E, Drack A, Stone E.  Is age-related macular degeneration a microvascular disease? .  Adv Exp Med Biol.  2014. 801:283-9.
[PubMed]

Worthington K, Wiley L, Bartlett A, Stone E, Mullins R, Salem A, Guymon C, Tucker B.  Mechanical properties of murine and porcine ocular tissues in compression.  Exp Eye Res.  2014. 121:194-9.
[PubMed]

Boye S, Huang W, Roman A, Sumaroka A, Boye S, Ryals R, Olivares M, Ruan Q, Tucker B, Stone E, Swaroop A, Cideciyan A, Hauswirth W, Jacobson S.  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.  2014. 9(3):e92928.
[PubMed]

Thompson S, Blodi F, Lee S, Welder C, Mullins R, Tucker B, Stasheff S, Stone E.  Photoreceptor cells with profound structural deficits can support useful vision in mice.  Invest Ophthalmol Vis Sci.  2014. 55(3):1859-66.
[PubMed]

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

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

Tucker B, Mullins R, Stone E.  Stem Cells for Investigation and Treatment of Inherited Retinal Disease.  Hum Mol Genet.  2014. 
[PubMed]

Sohn E, Khanna A, Tucker B, Abramoff M, Stone E, Mullins R.  Structural and biochemical analyses of choroidal thickness in human donor eyes.  Invest Ophthalmol Vis Sci.  2014. 55(3):1352-60.
[PubMed]

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

Chun R, Fishman G, Collison F, Stone E, Zernant J, Allikmets R.  The value of retinal imaging with infrared scanning laser ophthalmoscopy in patients with stargardt disease.  Retina.  2014. 34(7):1391-9.
[PubMed]

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

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

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

Song H, Pugliese A, Rosse E, Latchney L, Stone E, Dubra A, Hunter J, Chung M.  Adaptive optics scanning laser ophthalmoscopy in Stargardt disease reveals decreased cone and rod densities, (abstr.).  Investigative Ophthalmology & Visual Science.  2013. 54:1743.

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

Whitmore S, Braun T, Skeie J, Haas C, Sohn E, Stone E, Scheetz T, Mullins R.  Altered gene expression in dry age-related macular degeration suggests early loss of choroidal endothelial cells.  Mol Vis.  2013. 19:2274-97.
[PubMed]

Bakall B, Riker M, Patankar P, Johnston R, Brack D, Riley J, Mullins R, Anderson M, Stone E.  Analysis of phenotype in mouse models of Stargardt disease for identification of modifying genes, (abstr.).  Investigative Ophthalmology & Visual Science.  2013. 54:1369.

Stone E, Aldave A, Drack A, MacCumber M, Sheffield V, Traboulsi E, Weleber R.  Author Reply: to PMID 22944025.  Ophthalmology.  2013. 120(10):e73.
[PubMed]

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

Whitmore S, Zeng S, Daggett H, DeLuca A, Tucker B, Braun T, Mullins R, Stone E, Scheetz T.  Bioinformatic identification of altered splicing motifs resulting from the Alu insertion in exon 9 of the RP gene MAK, (abstr.).  Investigative Ophthalmology & Visual Science.  2013. 54:1317.

Schoo D, Khanna A, Wang K, Streb M, Stone E, Mullins R.  Choroidal vascular pathology in human eyes with Y402H allele of complement factor H, (abstr.).  Investigative Ophthalmology & Visual Science.  2013. 54:339.

Sohn E, Jiao C, Mullins R, Jung W, Russell S, Stone E, Tucker B.  Comparison of intraocular retinal pigment epithelial (RPE) cell injections in vitrectomized wild type pigs, (abstr.).  Investigative Ophthalmology & Visual Science.  2013. 54:1948.

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

Scheetz T, DeLuca A, Stone E, Braun T.  Detection of sample contamination in clinical next-generation sequencing, (abstr.).  Investigative Ophthalmology & Visual Science.  2013. 54:3378.

Jacobson S, Cideciyan A, Peshenko I, Sumaroka A, Olshevskaya E, Cao L, Schwartz S, Roman A, Olivares M, Sadigh S, Yau K, Heon E, Stone E, Dizhoor A.  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.  2013. 22(1):168-83.
[PubMed]

Songstad A, Burnright E, Mullins R, Stone E, Andorf J, Streb L, Lu X, TUcker B.  Development of BEST1 reporter constructs for use in iPSC based high throughput drug screens and disease modeling, (abstr.).  Investigative Ophthalmology & Visual Science.  2013. 54:1743.

Blodi F, Shankar M, Singh P, Mullins R, Andrews M, Stone E, Thompson S, Stasheff S.  Gap junctions propagate Melanopsin-like responses among ganglion cells in Efemp1R345W mice, (abstr.).  Investigative Ophthalmology & Visual Science.  2013. 54:311.

Burnright E, Kaalberg E, Eyestone M, Hoffman J, Haas C, Mullins R, Stone E, Tucker B.  Gene therapy for CEP-290 associated LCA in patient-derived induced pluripotent stem cells, (abstr.).  Investigative Ophthalmology & Visual Science.  2013. 54:2730.

Mullins R, Khanna A, Wang K, Riker M, Stone E, Sohn E.  Human choroidal thickness: relationship to protease inhibitors, (abstr.).  Investigative Ophthalmology & Visual Science.  2013. 54:3196.

Abramoff M, Mullins R, Lee K, Hoffmann J, Sonka M, Critser D, Stasheff S, Stone E.  Human photoreceptor outer segments shorten during light adaptation.  Investigative Ophthalmology and Visual Science.  2013. 54(5):3721-3728.

Hazlewood R, Roos B, Honkanen R, Jampol L, Alward W, Kwon Y, Stone E, Fingert J.  Identification and characterization of genetic factors responsible for cavitary optic disc anomalies, (abstr.).  Investigative Ophthalmology & Visual Science.  2013. 54:6231.

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

Drack A, Bhattarai S, Stone E, Wang K, Gratie D, Heon E, Sheffield V, Mullins R.  Increasing body weight correlated with loss of ERG in mice with Bardet Biedo syndrome, (abstr.).  Investigative Ophthalmology & Visual Science.  2013. 54:6067.

Tucker B, Mullins R, Anfinson K, Affatigato L, Halder J, Brzeskiewicz P, Stone E.  Investigating the pathophysiology of USH2A associated retinal degeneration with patient specific iPSC’s, (abstr.).  Investigative Ophthalmology & Visual Science.  2013. 54:4054.

Sohn E, Mullins R, Stone E.  Macular Dystrophies.  Saunders Elsevier.  2013. 

Gratie D, Stone E, East J, Mullins R, Drack A.  Mutation analysis in patients suspected to have PAX6-related ocular malformations, (abstr.).  Investigative Ophthalmology & Visual Science.  2013. 54:5690.

Braun T, Mullins R, Wagner A, Andorf J, Johnston R, Bakall B, Deluca A, Fishman G, Lam B, Weleber R, Cideciyan A, Jacobson S, Sheffield V, Tucker B, Stone E.  Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.  Hum Mol Genet.  2013. 22(25):5136-45.
[PubMed]

Stone E, Tucker B, Braun T, Mullins R, Wagner A, Jacobson S, Cideciyan A, Lam B, Fishman G.  Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease, (abstr.).  Investigative Ophthalmology & Visual Science.  2013. 54:4973.

Tucker B, Mullins R, Streb L, Anfinson K, Eyestone M, Kaalberg E, Riker M, Drack A, Braun T, Stone E.  Patient-specific iPSC-derived photorecptor precursor cells as a means to investigate retinitis pigmentosa.  eLife.  2013. 2:e00824.
[PubMed]

Cideciyan A, Jacobson S, Peshenko I, Sumaroka A, Olshevskaya E, Roman A, Sadigh S, Heon E, Stone E, Dizhoor A.  Photoreceptor vision and structure in LCA1 caused by mutations in GUCY2D (Abstr).  Investigative Ophthalmology & Visual Science.  2013. 54:654.

Wagner A, Taylor K, DeLuca A, Casavant T, Stone E, Mullins R, Scheetz T, Braun T.  Positive and unlabeled learning for prioritizing candidate variants in retinal degenerative diseases (abstr).  Investigative Ophthalmology & Visual Science.  2013. 54:3376.

Wagner A, Taylor K, DeLuca A, Casavant T, Mullins R, Stone E, Scheetz T, Braun T.  Prioritzation of retinal disease genes: an integrative approach.  Human Mutation.  2013. 34(6):853-859.
[PubMed]

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

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

Braun T, Wagner A, DeLuca A, Casavant T, Scheetz T, Clark A, Mullins R, Stone E.  The ocular tissue database (abstr).  Investigative Ophthalmology & Visual Science.  2013. 54:3383.

Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander A, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers F, Gonzalez-Duarte R, Koenekoop R, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet J.  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.  2013. 8(1):e51622.
[PubMed]

Tucker B, Anfinson K, Mullins R, Stone E, Young M.  Use of a synthetic xeno-free culture substrate for induced pluripotent stem cell induction and retinal differentiation.  Stem Cells Translational Medicine.  2013. 2(1):16-24.
[PubMed]

DeLuca A, Ephraim S, Scheetz T, Stone E, Braun T.  Vision Database (abstr).  Investigative Ophthalmology & Visual Science.  2013. 54:3382.

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

Stunkel M, Bhattarai S, Stone E, Wang K, Mullins R, Drack A.  Vitritis in pediatric retinal degenerations (abstr).  Investigative Ophthalmology & Visual Science.  2013. 54:1743.

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

Stone E, Mullins R, Tucker B, Wagner A, Braun T, East J, Scheetz T.  Alternative Splicing of Exon 12 of the Male Germ Cell Associated Kinase Gene (MAK) Results in a Cone-specific Isoform.  Investigative Ophthalmology & Visual Science.  2012. 53:4594.

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

Whitmore S, Braun T, Scheetz T, Khanna A, Affatigato L, Stone E, Mullins R.  ARMS2 A69S Associated Alternative Splicing and Differential Gene Expression in Human RPE/Choroid.  Investigative Ophthalmology & Visual Science.  2012. 53:6501.

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

Mullins R, Kuehn M, Radu R, Enriquez G, East J, Schindler E, Travis G, Stone E.  Autosomal Recessive Retinitis Pigmentosa Due to ABCA4 Mutations: Clinical, Pathologic, and Molecular Characterization.  Investigative Ophthalmology and Visual Science.  2012. 53(4):1883-1894.

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

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

Johnson C, Riley J, Brack D, Haas C, Grider T, Stone E.  Flicker-Defined Form for Evaluation of Central Visual Function in Eyes with Molecularly Confirmed ABCA4-Associated Stargardt's Disease.  Investigative Ophthalmology & Visual Science.  2012. 53:4373.

Tlucek P, Folk J, Orien J, Stone E, Mahajan V.  Fluocinolone Acetonide Implantation in Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy.  Investigative Ophthalmology & Visual Science.  2012. 53:5501.

Jacobson S, Cideciyan A, Ratnakaram R, Heon E, Schwartz S, Roman A, Peden M, Aleman T, Boye S, Sumaroka A, Conlon T, Calcedo R, Pang J, Erger K, Olivares M, Mullins C, Swider M, Kaushal S, Feuer W, Iannacone A, Fishman G, Stone E, Byrne B, Hauswrith W.  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.  2012. 130(1):9-24.

Tlucek P, Folk J, Orien J, Stone E, Mahajan V.  Inhibition of Neovascularization but Not Fibrosis With the Fluocinolone Acetonide Implant in Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy.  Archives of Ophthalmology.  2012. 

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

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

Burnight E, Kaalberg E, Moses B, Halder J, Daggett H, Mullins R, Stone E, Tucker B.  LCA Gene Therapy in Somatic-Cell-Derived Induced Pluripotent Stem Cells.  Investigative Ophthalmology & Visual Science.  2012. 53:1897.

Mao M, Solivan-Timpe F, Roos B, Mullins R, Oetting T, Kwon Y, Brzeskiewicz P, Stone E, Alward W, Anderson M, Fingert J.  Localization of SH3PXD2B in Human Eyes and Detection of Rare Variants in Patients with Anterior Segment Diseases and Glaucoma.  Molecular Vision.  2012. 18(75-76):705-713.

Sohn E, Mullins R, Stone E.  Macular Dystrophies.  The CV Mosby Company, St Louis, MO.  2012. 

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

Blodi F, Stasheff S, Thompson S, Shankar M, Mullins R, Andrews M, Stone E.  More Numerous Photosensitivie Ganglion Cells in a Macular Degeneration.  Investigative Ophthalmology & Visual Science.  2012. 53:4338.

Bakall B, Daggett H, Johnston R, Brzeskiewicz P, Kimberling W, Stone E.  Mutation Analysis in a Large Cohort of Individuals with Usher Syndrome.  Investigative Ophthalmology & Visual Science.  2012. 53:4544.

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

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

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

Wagner A, DeLuca A, Casavant T, Scheetz T, Stone E, Mullins R, Braun T.  RNA Sequencing for Identification of Genetic Factors in Retinal Disease.  Investigative Ophthalmology & Visual Science.  2012. 53:4527.

Drack A, Bhattarai S, Seo S, Gratie D, Stone E, Mullins R, Sheffield V.  Subretinal Gene Therapy in BBS1 Mice.  Investigative Ophthalmology & Visual Science.  2012. 53:6566.

Tucker B, Anfinson K, Andorf J, Streb L, Scheetz T, Mullins R, Stone E.  Targeting Human Mak Mutant iPSCs for In Vitro Gene Replacement.  Investigative Ophthalmology & Visual Science.  2012. 53:2693.

Kay C, Abramoff M, Mullins R, Kinnick T, Lee K, Eyestone M, Chung M, Sohn E, Stone E.  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.  2012. 130(3):357-364.

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

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

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

Pennesi M, Stover N, Stone E, Chiang P, Weleber R.  Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1.  Invest Ophthalmol Vis Sci.  2011 October. 52(11):8166-73.
[Link]

Davis L, Meyer K, Schindler E, Beck J, Rudd D, Grundstad A, Scheetz T, Braun T, Fingert J, Alward W, Kwon Y, Folk J, Russell S, Wassink T, Sheffield V, Stone E.  Copy number variations and primary open-angle glaucoma.  Invest Ophthalmol Vis Sci.  2011 September 9. 52(10):7122-33.
[Link]

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

Zode G, Kuehn M, Nishimura D, Searby C, Mohan K, Grozdanic S, Bugge K, Anderson M, Clark A, Stone E, Sheffield V.  Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.  J Clin Invest.  2011 September 1. 121(9):3542-53.
[Link]

Tucker B, Scheetz T, Mullins R, DeLuca A, Hoffmann J, Johnston R, Jacobson S, Sheffield V, Stone E.  Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa.  Proc Natl Acad Sci U S A.  2011 August 23. 108(34):E569-76.
[Link]

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

Fingert J, Robin A, Stone J, Roos B, Davis L, Scheetz T, Bennett S, Wassink T, Kwon Y, Alward W, Mullins R, Sheffield V, Stone E.  Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.  Hum Mol Genet.  2011 June 15. 20(12):2482-94.
[Link]

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

Baye L, Patrinostro X, Swaminathan S, Beck J, Zhang Y, Stone E, Sheffield V, Slusarski D.  The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.  Hum Mol Genet.  2011 April 15. 20(8):1467-77.
[Link]

Drack A, Dumitrescu A, Mullins R, Seo S, Thompson S, Riker M, Nishimura D, Sheffield V, Stone E.  Light Reduction, Neuroprotection, And Subretinal Gene Therapy In A Mouse Model Of Bardet Biedl Syndrome.  Investigative Ophthalmology & Visual Science.  2011 April. 52:5464.

Kinnick T, Mullins R, Dev S, Leys M, Mackey D, Kay C, Lam B, Fishman G, Traboulsi E, Iezzi R, Stone E.  Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.  Retina.  2011 March. 31(3):581-95.
[Link]

Iannaccone A, Kerr N, Kinnick T, Calzada J, Stone E.  Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications.  Arch Ophthalmol.  2011 February. 129(2):211-7.
[Link]

Kardon R, Anderson S, Damarjian T, Grace E, Stone E, Kawasaki A.  Chromatic pupillometry in patients with retinitis pigmentosa.  Ophthalmology.  2011 February. 118(2):376-81.
[Link]

Zhang Y, Baye L, Zhang Q, Beck J, Patrinostro X, Swaminathan S, Slusarski D, Sheffield V, Stone E.  A CEP290 N-terminal Protein Fragment Rescues A Zebrafish Model Of CEP290 Leber’s Congenital Amaurosis.  Investigative Ophthalmology & Visual Science.  2011. 52:1400.

Zode G, Nishimura D, Ding Q, Searby C, Mohan K, Grozdanic S, Stone E, Sheffield V, Kuehn M.  A Chemical Chaperone Rescues Glaucoma By Reducing ER Stress In A Novel Murine Model Of Primary Open Angle Glaucoma.  Investigative Ophthalmology & Visual Science.  2011. 52:591.

Folk J, Abramoff M, Orien J, Christopher M, Scheetz T, Mullins R, Eyestone M, East J, Schindler E, Stone E.  Age-Related Macular Degeneration Risk Alleles and Response to Treatment with Anti-VEGF Agents.  Investigative Ophthalmology & Visual Science.  2011. 52:5238.

Stone E, DeLuca A, Scheetz T, Braun T, Affatigato L, Daggett H, Johnston R, Streb M, Sheffield V.  Analysis of 200 Human Exomes for Improved Mutation Detection Specificity.  Investigative Ophthalmology & Visual Science.  2011. 52:3314.

Davis A, Folk J, Russell S, Boldt H, Stone E, Abramoff M, Mahajan V.  Anti-VEGF Therapy for Peripapillary Choroidal Neovascularization.  Investigative Ophthalmology & Visual Science.  2011. 52:3544.

Roos B, Kuehn M, Wang K, Stone E, Kwon Y, Alward W, Fingert J.  Association Study Of Cav1 And Cav2 In Primary Open Angle Glaucoma Patients From Iowa.  Investigative Ophthalmology & Visual Science.  2011. 52:2411.

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

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

Zhang Q, Nishimura D, Seo S, Vogel T, Morgan D, Searby C, Bugge K, Stone E, Rahmouni K, Sheffield V.  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.  2011. 108(51):20678-20683.

Kuehn M, Wang K, Roos B, Stone E, Kwon Y, Alward W, Mullins R, Fingert J.  Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort.  Molecular Vision.  2011. 17:430-435.

Cideciyan A, Rachel R, Aleman T, Swider M, Schwartz S, Sumaroka A, Roman A, Stone E, Jacobson S, 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.  2011. 20(7):1411-1423.

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

Mullins R, Fingert J, Johnson M, Folk J, Stone E.  Evaluation Of Morphologic Features Of AMD Related To ARMS2 A69S.  Investigative Ophthalmology & Visual Science.  2011. 52:1229.

Mullins R, Skeie J, Folk J, Solivan-Timpe F, Oetting T, Huang J, Wang K, Stone E, Fingert J.  Evaluation of variants in the selectin genes in age-related macular degeneration.  BMC Medical Genetics.  2011. 12:58.

Thompson S, Stasheff S, Andrews M, Shankar M, Owens J, Hoffmann J, Halder J, McGivern S, Brzeskiewicz P, Stone E.  Eye Disease And The Regulation Of Behavioral State By Light: Age Of Retinal Degeneration Determines Phenotype.  Investigative Ophthalmology & Visual Science.  2011. 52:6076.

Cideciyan A, Sumaroka A, Swider M, Roman A, Olivares M, Mullins C, Schwartz S, Aleman T, Stone E, Jacobson S.  Gene Therapy Potential of Human Retinal Degenerations caused by Mutant Photoreceptor Genes CEP290 versus AIPL1.  Investigative Ophthalmology & Visual Science.  2011. 52:6603.

Mahajan V, Folk J, Fingert J, Skeie J, Kinnick T, Scheetz T, Bassuk A, Manak J, Sheffield V, Stone E.  Genetic Analysis and Phenotypic Staging of Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy.  Investigative Ophthalmology & Visual Science.  2011. 52:62.

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

Chung M, Rossi E, Song H, Alfredo D, Gonazles M, Stone E, Riley J, Williams D.  In vivo Adaptive Optics Imaging of the Cone Photoreceptor Mosaic in Autosomal Dominant Cone Rod Dystrophy (AD-CRD) in a Three-generation Family Carrying the I143NT Mutation in the Guanylate Cyclase Activator A11A (GUCA1) Gene.  Investigative Ophthalmology & Visual Science.  2011. 52:5002.

Kay C, Stone E, Abramoff M.  Increased Thickness of Photoreceptor Outer Segments and Retinal Pigment Epithelium in Best Vitelliform Macular Dystrophy.  Investigative Ophthalmology & Visual Science.  2011. 52:1768.

Drack A, Dumitrescu A, Mullins R, Seo S, Thompson S, Riker M, Nishimura D, Sheffield V, Stone E.  Light Reduction, Neuroprotection, And Subretinal Gene Therapy In A Mouse Model Of Bardet Biedl Syndrome.  Investigative Ophthalmology & Visual Science.  2011. 52:5464.

Birkholz E, Skeie J, Wright M, Brown E, Folk J, Russell S, Boldt H, Gehrs K, Stone E, Mahajan V.  Proteomic Analysis of Vitreous Biopsy Techniques.  Investigative Ophthalmology & Visual Science.  2011. 52:1391.

Ko A, Brinton J, Mahajan V, Zimmerman B, Brinton G, Stone E, Folk J, Mullins R.  Seroreactivity against aqueous-soluble and detergent-soluble retinal proteins in posterior uveitis.  Archives of Ophthalmology.  2011. 129:415-20.

Tucker B, Stone E, Moses B, Streb L, Andorf J, Kuusisto C, Melkoumian Z, Young M.  Use of a Synthetic Xeno-Free Culture Substrate for iPSC Induction and Retinal Differentiation.  Investigative Ophthalmology & Visual Science.  2011. 52:2223.

Stone E, Cideciyan A, Aleman T, Scheetz T, Sumaroka A, Ehlinger M, Schwartz S, Fishman G, Traboulsi E, Lam B, Fulton A, Mullins R, Sheffield V, Jacobson S.  Variations in NPHP5 in patients with nonsyndromic Leber congenital amaurosis and Senior-Loken syndrome.  Archives of Ophthalmology.  2011. 129(1):81-87.

Mahajan V, Elkins K, Russell S, Boldt H, Gehrs K, Weingeist T, Stone E, Abramoff M, Liu D, Folk J.  Bilateral intravitreal injection of antivascular endothelial growth factor therapy.  Retina.  2011 January. 31(1):31-5.
[Link]

Thompson S, Stasheff S, Hernandez J, Nylen E, East J, Kardon R, Pinto L, Mullins R, Stone E.  Different inner retinal pathways mediate rod-cone input in irradiance detection for the pupillary light reflex and regulation of behavioral state in mice.  Invest Ophthalmol Vis Sci.  2011 January. 52(1):618-23.
[Link]

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

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

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

Ko A, Hernández J, Brinton J, Faidley E, Mugge S, Mets M, Kardon R, Folk J, Mullins R, Stone E.  Anti-γ-enolase autoimmune retinopathy manifesting in early childhood.  Arch Ophthalmol.  2010 December. 128(12):1590-5.
[Link]

Thompson S, Recober A, Vogel T, Kuburas A, Owens J, Sheffield V, Russo A, Stone E.  Light aversion in mice depends on nonimage-forming irradiance detection.  Behav Neurosci.  2010 December. 124(6):821-7.
[Link]

Abramoff M, Folk J, Orien J, Mullins R, Wang K, Russell S, Boldt H, Mahajan V, Braun T, Stone E.  Genetic Associations to AMD and Its Response to anti-VEGF Drugs (Scientific Poster PO220).  American Academy of Ophthalmology Annual Meeting Joint meeting AAO MEACO, Chicago.  2010 October 19. 

Stone E.  Retina Subspecialty Day: Section IX: Inherited Retinal Disease and Miscellaneous: Genetic Testing for Inherited Retinal Disease.  American Academy of Ophthalmology Annual Meeting Joint meeting AAO MEACO, Chicago.  2010 October 19. 

Skeie J, Fingert J, Russell S, Stone E, Mullins R.  Complement component C5a activates ICAM-1 expression on human choroidal endothelial cells.  Invest Ophthalmol Vis Sci.  2010 October. 51(10):5336-42.
[Link]

Mahajan V, Stone E.  Patients with an acute zonal occult outer retinopathy-like illness rapidly improve with valacyclovir treatment.  Am J Ophthalmol.  2010 October. 150(4):511-8.
[Link]

Sapp J, Nishimura D, Johnston J, Stone E, Héon E, Sheffield V, Biesecker L.  Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity.  Genet Med.  2010 October. 12(10):623-7.
[Link]

Schindler E, Nylen E, Ko A, Affatigato L, Heggen A, Wang K, Sheffield V, Stone E.  Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population.  Hum Mol Genet.  2010 October 1. 19(19):3693-701.
[Link]

Fingert J, Roos B, Eyestone M, Pham J, Mellot M, Stone E.  Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus.  Ophthalmic Genet.  2010 June. 31(2):77-80.
[Link]

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

Nishimura D, Baye L, Perveen R, Searby C, Avila-Fernandez A, Pereiro I, Ayuso C, Valverde D, Bishop P, Manson F, Urquhart J, Stone E, Slusarski D, Black G, Sheffield V.  Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.  Am J Hum Genet.  2010 May 14. 86(5):686-95.
[Link]

Mahajan V, Vallone J, Lin J, Mullins R, Ko A, Folk J, Stone E.  T-cell infiltration in autosomal dominant neovascular inflammatory vitreoretinopathy.  Mol Vis.  2010 May 8. 16:1034-40.
[Link]

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

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

Pretorius P, Baye L, Nishimura D, Searby C, Bugge K, Yang B, Mullins R, Stone E, Sheffield V, Slusarski D.  Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform.  PLoS Genet.  2010 March. 6(3):e1000884.
[Link]

Lin P, Shankar S, Duncan J, Slavotinek A, Stone E, 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.  J AAPOS.  2010 February. 14(1):93-6.
[Link]

Zode G, Nishimura D, Searby C, Stone E, Dumitrescu A, Sheffield V, Kuehn M.  Activation of Unfolded Protein Response in the Trabecular Meshwork of Transgenic Mice Expressing Tyr437His Mutant of Human.  Investigative Ophthalmology & Visual Science.  2010. 51:5835.

Roorda A, Sundquist S, Solovyev A, Ratnam K, Lujan B, Stone E, Duncan J.  Adaptive Optics Imaging Reveals Supernormal Cone Density in Enhanced S-Cone Syndrome.  Investigative Ophthalmology & Visual Science.  2010. 51:2934.

Drack A, Mullins R, Thompson S, Kinnick T, Bugge K, Nishimura D, Riker M, Stone E, Sheffield V.  Characterization of Ocular Phenotype in Mouse Models of Bardet Biedl Syndrome and Feasibility Study for Subretinal Gene.  Investigative Ophthalmology & Visual Science.  2010. 51:3651.

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

Duncan J, Sundquist S, Solovyev A, Ratnam K, Lujan B, Zhang Y, Stone E, Roorda A.  Cone Structure in Patients with BEST1 Mutations.  Investigative Ophthalmology & Visual Science.  2010. 51:4328.

Thompson S, Nylen E, East J, HKardon R, Pinto L, Sheffield V, Stasheff S, Mullins R, Stone E.  Different Bipolar Cell Input Pathways for Negative Masking and the Pupil Light Reflex in Mice.  Investigative Ophthalmology & Visual Science.  2010. 51:669.

Brinton J, Ko A, Mahajan V, Hernandez J, Stone E, Folk J, Mullins R.  Evaluation of Antiretinal Autoantibodies in Posterior Uveitis.  Investigative Ophthalmology & Visual Science.  2010. 51:5880.

Cideciyan A, Swider M, Aleman T, Schwartz S, Windsor E, Stone E, Jacobson S.  Evaluation of Central Visual Function Using a Foveo-Papillary Profile in Macular/Retinal Degenerations Caused by ABCA4 (ABCR) Mutations.  Investigative Ophthalmology & Visual Science.  2010. 51:1396.

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

Fingert J, Robin A, Stone J, Scheetz T, Casavant T, Wassink T, Alward W, Sheffield V, Stone E.  Identification of a Novel Glaucoma Locus.  Investigative Ophthalmology & Visual Science.  2010. 51:2159.

Mahajan V, Folk J, Russell S, Boldt H, Stone E, Lee K, Abràmoff M.  Iowa Membrane Maps: SD OCT Guided Therapy for Epiretinal Membrane.  Investigative Ophthalmology & Visual Science.  2010. 51:3604.

Orien J, Russell S, Somani R, Boldt H, Abramoff M, Stone E, Folk J, Gehrs K, Mullins R, Mahajan V.  Macular Hole Closure With Internal Limiting Membrane Abrasion.  Investigative Ophthalmology & Visual Science.  2010. 51:1331.

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

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

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

Aleman T, Cideciyan A, Sumaroka A, Schwartz S, Windsor E, Swider M, Tsai F, Stone E, Jacobson S.  Retinal and Visual Function Phenotype Associated With CEP290 Mut.  Investigative Ophthalmology & Visual Science.  2010. 51:1381.

Boobalan E, Nichols L, Alur R, Sergeev Y, Caruso R, Stone E, Swaroop A, Johnson M, Brooks B.  Two Novel CRX Mutant Proteins Causing Autosomal Dominant Leber Congenital Amaurosis (LCA) Interact Differently With NRL.  Investigative Ophthalmology & Visual Science.  2010. 51:4041.

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

Stone E, Cideciyan A, Aleman T, Scheetz T, Ehlinger M, Fishman G, Traboulsi E, Lam B, Fulton A, Jacobson S.  Variations in NPHP5 Cause Nonsyndromic Leber Congenital Amaurosis (LCA).  Investigative Ophthalmology & Visual Science.  2010. 51:6354.

Shah S, Quiram P, Stone E, Mahajan V.  Vitreous Band Phenotype in a Family With Dominantly Inherited Retinal Detachment.  Investigative Ophthalmology & Visual Science.  2010. 51:3094.

Drack A, Lambert S, Stone E.  From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology.  Am J Ophthalmol.  2010 January. 149(1):10-17.
[Link]

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

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

Maguire A, High K, Auricchio A, Wright J, Pierce E, Testa F, Mingozzi F, Bennicelli J, Ying G, Rossi S, Fulton A, Marshall K, Banfi S, Chung D, Morgan J, Hauck B, Zelenaia O, Zhu X, Raffini L, Coppieters F, De Baere E, Shindler K, Volpe N, Surace E, Acerra C, Lyubarsky A, Redmond T, Stone E, Sun J, McDonnell J, Leroy B, Simonelli F, Bennett J.  Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial.  Lancet.  2009 November 7. 374(9701):1597-605.
[Link]

Mahajan V, Russell S, Stone E.  A new macular dystrophy with anomalous vascular development, pigment spots, cystic spaces, and neovascularization.  Arch Ophthalmol.  2009 November. 127(11):1449-57.
[Link]

Mullins R, Faidley E, Daggett H, Jomary C, Lotery A, Stone E.  Localization of complement 1 inhibitor (C1INH/SERPING1) in human eyes with age-related macular degeneration.  Exp Eye Res.  2009 November. 89(5):767-73.
[Link]

Galler K, Folk J, Russell S, Boldt H, Gehrs K, Weingeist T, Stone E, Liu D, Abramoff M, Mahajan V.  Bilateral Intravitreal Anti-VEGF Injections .  Final Program, American Academy of Ophthalmology, Annual Meeting, San Francisco.  2009 October 27. 

Sundaresan P, Vijayalakshmi P, Thompson S, Ko A, Fingert J, Stone E.  Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.  Mol Vis.  2009 September 4. 15:1781-7.
[Link]

Kardon R, Anderson S, Damarjian T, Grace E, Stone E, Kawasaki A.  Chromatic pupil responses: preferential activation of the melanopsin-mediated versus outer photoreceptor-mediated pupil light reflex.  Ophthalmology.  2009 August. 116(8):1564-73.
[Link]

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

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

Philp A, Jin M, Li S, Schindler E, Iannaccone A, Lam B, Weleber R, Fishman G, Jacobson S, Mullins R, Travis G, Stone E.  Predicting the pathogenicity of RPE65 mutations.  Hum Mutat.  2009 August. 30(8):1183-8.
[Link]

McMahon T, Kim L, Fishman G, Stone E, Zhao X, Yee R, Malicki J.  CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis.  Invest Ophthalmol Vis Sci.  2009 July. 50(7):3185-7.
[Link]

Sohn E, Francis P, Duncan J, Weleber R, Saperstein D, Farrell D, Stone E.  Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.  Arch Ophthalmol.  2009 July. 127(7):913-20.
[Link]

Jacobson S, Aleman T, Cideciyan A, Sumaroka A, Schwartz S, Windsor E, Swider M, Herrera W, Stone E.  Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.  Mol Vis.  2009 June 2. 15:1098-106.
[Link]

Stone E.  Progress toward effective treatments for human photoreceptor degenerations.  Curr Opin Genet Dev.  2009 June. 19(3):283-9.
[Link]

Meyer E, Rahman F, Owens J, Pasha S, Morgan N, Trembath R, Stone E, Moore A, Maher E.  Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.  Mol Vis.  2009 May 18. 15:1014-9.
[Link]

Jacobson S, Aleman T, Cideciyan A, Roman A, Sumaroka A, Windsor E, Schwartz S, Heon E, Stone E.  Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.  Invest Ophthalmol Vis Sci.  2009 May. 50(5):2368-75.
[Link]

Cideciyan A, Swider M, Aleman T, Tsybovsky Y, Schwartz S, Windsor E, Roman A, Sumaroka A, Steinberg J, Jacobson S, Stone E, Palczewski K.  ABCA4 disease progression and a proposed strategy for gene therapy.  Hum Mol Genet.  2009 March 1. 18(5):931-41.
[Link]

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

Ko A, Faidley E, East J, Eyestone M, Johnston R, Mugge S, Mullins R, Stone E.  A Case of Autoimmune Retinopathy Associated With Anti-γ-Enolase Autoantibodies.  Investigative Ophthalmology & Visual Science.  2009. 50:4154.

Stone E, Schindler E, Ko A, Affatigato L, Hoffman J, Fishman G, Weleber R, Jacobson S, Cideciyan A, Drack A.  A Method for Deducing the Pathogenic Contribution of Individual Recessive Disease Alleles.  Investigative Ophthalmology & Visual Science.  2009. 50:4128.

Kimberling W, Smith R, Drack A, Stone E, Fishman G, Jacobson S, Weleber R, Streb L.  A Molecular Screening Test for Usher Syndrome.  Investigative Ophthalmology & Visual Science.  2009. 50:2308.

Mahajan V, Russell S, Stone E.  A New Macular Dystrophy With Pigment Spots, Cystic Spaces, and Hemorrhage.  Investigative Ophthalmology & Visual Science.  2009. 50:6264.

Fingert J, Roos B, Daggett H, Alward W, Kwon Y, Sheffield V, Stone E, Scheetz T.  Association Study of Pigment Dispersion Syndrome.  Investigative Ophthalmology & Visual Science.  2009. 50:880.

Braun T, DeLuca A, Anand N, Taylor K, Bogaard J, Faga B, Scheetz T, Casavant T, Sheffield V, Stone E.  Automated Sequence Analysis Pipeline (ASAP) for Genetic Testing.  Investigative Ophthalmology & Visual Science.  2009. 50:4133.

Kerr N, Iannaccone A, Calzada J, Kinnick T, Stone E.  Bilateral Neovascular Membranes in a Child With Early-onset Autosomal Recessive Best's Vitelliform Macular Dystrophy (arBVMD) Due to Compound Heterozygosity for VMD2/BEST1 Mutations.  Investigative Ophthalmology & Visual Science.  2009. 50:6271.

Scheetz T, Braun T, Smith R, Walls W, Faga B, Folk J, Sheffield V, Casavant T, Stone E.  CPS: A Collaborative Phenotype System.  Investigative Ophthalmology & Visual Science.  2009. 50:2825.

Kinnick T, Grundstad A, Ehlinger M, Andorf J, Knudtson K, Braun T, Scheetz T, Sheffield V, Stone E.  Genomic Fragment Capture and Pyrophosphate Sequencing for Retinitis Pigmentosa Gene Discovery.  Investigative Ophthalmology & Visual Science.  2009. 50:2820.

Mullins R, Schindler E, Enriquez G, Faidley E, Kuehn M, Stone E.  Morphology and Gene Expression Analysis of ABCA4-associated Retinitis Pigmentosa.  Investigative Ophthalmology & Visual Science.  2009. 50:4490.

Galler K, Folk J, Russell S, Boldt H, Gehrs K, Weingeist T, Abràmoff M, Stone E, Mahajan V.  Patient Preference and Safety of Bilateral Intravitreal Injection of Anti-VEGF Therapy.  Investigative Ophthalmology & Visual Science.  2009. 50:247.

Cideciyan A, Swider M, Aleman T, Tsybovsky Y, Schwartz S, Windsor E, Sumaroka A, Jacobson S, Stone E, Palczewski K.  Predicting Abca4 Disease Progression: A Strategy for Gene Therapy.  Investigative Ophthalmology & Visual Science.  2009. 50:6274.

Thomspon S, Riker M, Hernandez J, Owens J, Halder J, Pham J, Pierce E, Mullins R, Stone E.  Selective Disruption of Non-Visual Responses to Light in a Mouse Model of Malattia Leventinese.  Investigative Ophthalmology & Visual Science.  2009. 50:2561.

Satz J, Philp A, Nguyen H, Kusano H, Lee J, Turk R, Riker M, Hernandez J, Weiss R, Anderson M, Mullins R, Moore S, Stone E, Campbell K.  Visual impairment in the absence of dystroglycan.  Journal of Neuroscience.  2009. 29(42):13136-13146.

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

Aleman T, Lam B, Cideciyan A, Sumaroka A, Windsor E, Roman A, Schwartz S, Stone E, Jacobson S.  Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets.  Eye (Lond).  2009 January. 23(1):230-3.
[Link]

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

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.  Lancet.  2008 November 22. 372(9652):1828-34.
[Link]

Jacobson S, Cideciyan A, Aleman T, Sumaroka A, Windsor E, Schwartz S, Heon E, Stone E.  Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.  Invest Ophthalmol Vis Sci.  2008 October. 49(10):4573-7.
[Link]

Cideciyan A, Aleman T, Boye S, Schwartz S, Kaushal S, Roman A, Pang J, Sumaroka A, Windsor E, Wilson J, Flotte T, Fishman G, Heon E, Stone E, Byrne B, Jacobson S, Hauswirth W.  Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics.  Proc Natl Acad Sci U S A.  2008 September 30. 105(39):15112-7.
[Link]

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

Hayreh S, Fingert J, Stone E, Jacobson D.  Familial non-arteritic anterior ischemic optic neuropathy.  Graefes Arch Clin Exp Ophthalmol.  2008 September. 246(9):1295-305.
[Link]

Thompson S, Mullins R, Philp A, Stone E, Mrosovsky N.  Divergent phenotypes of vision and accessory visual function in mice with visual cycle dysfunction (Rpe65 rd12) or retinal degeneration (rd/rd).  Invest Ophthalmol Vis Sci.  2008 June. 49(6):2737-42.
[Link]

Herrera W, Aleman T, Cideciyan A, Roman A, Banin E, Ben-Yosef T, Gardner L, Sumaroka A, Windsor E, Schwartz S, Stone E, Liu X, Kimberling W, Jacobson S.  Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.  Invest Ophthalmol Vis Sci.  2008 June. 49(6):2651-60.
[Link]

Maguire A, Simonelli F, Pierce E, Pugh E, Mingozzi F, Bennicelli J, Banfi S, Marshall K, Testa F, Surace E, Rossi S, Lyubarsky A, Arruda V, Konkle B, Stone E, Sun J, Jacobs J, Dell'Osso L, Hertle R, Ma J, Redmond T, Zhu X, Hauck B, Zelenaia O, Shindler K, Maguire M, Wright J, Volpe N, McDonnell J, Auricchio A, High K, Bennett J.  Safety and efficacy of gene transfer for Leber's congenital amaurosis.  N Engl J Med.  2008 May 22. 358(21):2240-8.
[Link]

Thompson S, Foster R, Stone E, Sheffield V, Mrosovsky N.  Classical and melanopsin photoreception in irradiance detection: negative masking of locomotor activity by light.  Eur J Neurosci.  2008 April. 27(8):1973-9.
[Link]

Aleman T, Cideciyan A, Sumaroka A, Windsor E, Herrera W, White D, Kaushal S, Naidu A, Roman A, Schwartz S, Stone E, Jacobson S.  Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations.  Invest Ophthalmol Vis Sci.  2008 April. 49(4):1580-90.
[Link]

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

Wang W, McNatt L, Pang I, Millar J, Hellberg P, Hellberg M, Steely H, Rubin J, Fingert J, Sheffield V, Stone E, Clark A.  Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure.  J Clin Invest.  2008 March. 118(3):1056-64.
[Link]

Thompson S, Philp A, Stone E.  Visual function testing: a quantifiable visually guided behavior in mice.  Vision Res.  2008 February. 48(3):346-52.
[Link]

Kardon R, Anderson S, Grace E, Damarjian T, Stone E.  Assessment of Pupil Light Reflexes Mediated by Melanopsin Retinal Ganglion Cells in Patients With Retinal Photoreceptor Disease and Normal Eyes.  Investigative Ophthalmology & Visual Science.  2008. 49:3245.

Kinnick T, Andorf J, East J, Eyestone M, Mugge S, Mullins R, Lam B, Heckenlively J, Fishman G, Stone E.  Compound Heterozygous Inheritance of Best Vitelliform Macular Dystrophy.  Investigative Ophthalmology & Visual Science.  2008. 49:2973.

Damarjian T, Fingert J, Mullins R, Ehlinger M, Owens J, Hoffman J, Folk J, Mahajan V, Stone E.  Immunological Basis of Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV).  Investigative Ophthalmology & Visual Science.  2008. 49:209.

Cideciyan A, Swider M, Aleman T, Schwartz S, Windsor E, Roman A, Steinberg J, Schindler E, Stone E, Jacobson S.  Loss of Peripheral Vision in Human ABCA4-Associated Retinal Degenerations.  Investigative Ophthalmology & Visual Science.  2008. 49:2040.

Sundaresan P, Vijayalakshmi P, Thomson S, Fingert J, Stone E.  Low Prevalence of Known Disease Causing Mutations in South Indian Leber Congenital Amaurosis Patients.  Investigative Ophthalmology & Visual Science.  2008. 49:455.

Philp A, Zhang Q, Mullins R, Searby C, Nishimura D, Yang B, Stone E, Sheffield V.  Multigenic Heterozygous Mutations in Bbs1/bbs7 Result in Pathogenic Phenotypes in Mice.  Investigative Ophthalmology & Visual Science.  2008. 49:2211.

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

Fingert J, Oh K, Chung M, Scheetz T, Roos B, Daggett H, Adkins U, Sheffield V, Stone E.  Novel Mutation in the Retinol Dehydrogenase 12 (rdh12) Gene Is Associated With Retinitis Pigmentosa in a Large Autosomal Dominant Pedigree From Iowa.  Investigative Ophthalmology & Visual Science.  2008. 49:1695.

Stone E.  Project 3000: Finding Every Person in the United States Affected with Leber Congenital Amaurosis.  Investigative Ophthalmology & Visual Science.  2008. 49:749.

Aleman T, Cideciyan A, Roman A, Sumaroka A, Schwartz S, Herrera W, Windsor E, Stone E, Liu X, Jacobson S.  Retinal Disease Caused by USH2A Mutations.  Investigative Ophthalmology & Visual Science.  2008. 49:2172.

Goldstein O, Kukekova A, Aguirre G, Stone E, Slusarski D, Baye L, Philp A, Acland G, James A.  The Mutant Gene Causing Canine Early Retinal Degeneration Identifies a Novel Pathway Critical for Photoreceptor Development.  Investigative Ophthalmology & Visual Science.  2008. 49:1704.

Thompson S, Philp A, Mullins R, Streb L, Affatigato L, Johnston R, Sheibe-Owens J, Owings A, Mrosovsky N, Stone E.  Useful Vision in Mice Lacking Photoreceptor Outer-Segments.  Investigative Ophthalmology & Visual Science.  2008. 49:2845.

Davis R, Swiderski R, Rahmouni K, Nishimura D, Mullins R, Agassandian K, Philp A, Searby C, Andrews M, Thompson S, Berry C, Thedens D, Yang B, Weiss R, Cassell M, Stone E, Sheffield V.  A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.  Proc Natl Acad Sci U S A.  2007 December 4. 104(49):19422-7.
[Link]

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

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

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

Cideciyan A, Aleman T, Jacobson S, Khanna H, Sumaroka A, Aguirre G, Schwartz S, Windsor E, He S, Chang B, Stone E, 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.  Hum Mutat.  2007 November. 28(11):1074-83.
[Link]

Jacobson S, Aleman T, Cideciyan A, Heon E, Golczak M, Beltran W, Sumaroka A, Schwartz S, Roman A, Windsor E, Wilson J, Aguirre G, Stone E, Palczewski K.  Human cone photoreceptor dependence on RPE65 isomerase.  Proc Natl Acad Sci U S A.  2007 September 18. 104(38):15123-8.
[Link]

Kim L, Fishman G, Seiple W, Szlyk J, Stone E.  Retinal dysfunction in carriers of bardet-biedl syndrome.  Ophthalmic Genet.  2007 September. 28(3):163-8.
[Link]

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

Mullins R, Kuehn M, Faidley E, Syed N, Stone E.  Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease.  Invest Ophthalmol Vis Sci.  2007 July. 48(7):3372-80.
[Link]

Bakall B, Radu R, Stanton J, Burke J, McKay B, Wadelius C, Mullins R, Stone E, Travis G, Marmorstein A.  Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2).  Exp Eye Res.  2007 July. 85(1):34-43.
[Link]

Swiderski R, Nishimura D, Mullins R, Olvera M, Ross J, Huang J, Stone E, Sheffield V.  Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage.  Invest Ophthalmol Vis Sci.  2007 July. 48(7):3329-40.
[Link]

Guziewicz K, Zangerl B, Lindauer S, Mullins R, Sandmeyer L, Grahn B, Stone E, Acland G, Aguirre G.  Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease.  Invest Ophthalmol Vis Sci.  2007 May. 48(5):1959-67.
[Link]

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

Jacobson S, Cideciyan A, Aleman T, Sumaroka A, Schwartz S, Roman A, Stone E.  Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.  Ophthalmology.  2007 May. 114(5):895-8.
[Link]

Cideciyan A, Swider M, Aleman T, Roman M, Sumaroka A, Schwartz S, Stone E, Jacobson S.  Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations.  J Opt Soc Am A Opt Image Sci Vis.  2007 May. 24(5):1457-67.
[Link]

Shepard A, Jacobson N, Millar J, Pang I, Steely H, Searby C, Sheffield V, Stone E, Clark A.  Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure.  Hum Mol Genet.  2007 March 15. 16(6):609-17.
[Link]

Aleman T, Cideciyan A, Windsor E, Schwartz S, Swider M, Chico J, Sumaroka A, Pantelyat A, Duncan K, Gardner L, Emmons J, Steinberg J, Stone E, Jacobson S.  Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations.  Invest Ophthalmol Vis Sci.  2007 March. 48(3):1319-29.
[Link]

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

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

Mullins R, Olvera M, Clark A, Stone E.  Fibulin-5 distribution in human eyes: relevance to age-related macular degeneration.  Exp Eye Res.  2007 February. 84(2):378-80.
[Link]

Stone E, Fingert J, Braun T, Isaak E, Andorf J, Streb L, Fishman G, Weleber R, Jacobson S, Sheffield V.  A Strategy for Efficient Molecular Diagnosis of Genetically Heterogeneous Autosomal Recessive Diseases.  Investigative Ophthalmology & Visual Science.  2007. 48:2333.

Guziewicz K, Zangerl B, Lindauer S, Mullins R, Sandmeyer L, Grahn B, Stone E, Acland G, Aguirre G.  Bestrophin Gene Mutations Cause Canine Multifocal Retinopathy.  Investigative Ophthalmology & Visual Science.  2007. 48:2982.

Scheetz T, Braun T, Casavant T, Sheffield V, Stone E.  Correlation of Gene Expression in Retinitis Pigmentosa and Bardet-Bieldl Syndrome.  Investigative Ophthalmology & Visual Science.  2007. 48:2336.

McMahon T, Kim L, Fishman G, Stone E, Zhao X, Yee R, Malicki J.  CRB1 Gene Mutations Are Associated With Keratoconus in Patients With Leber Congenital Amaurosis.  Investigative Ophthalmology & Visual Science.  2007. 48:1838.

Braun T, Scheetz T,  D, Tack T, Casavant T, Sheffield V, Stone E.  Development of a Collaborative Ocular Phenotype Database.  Investigative Ophthalmology & Visual Science.  2007. 48:4634.

Philp A, Jin M, Li S, Roos B, Iannaccone A, Weleber R, Fishman G, Jacobson S, Travis G, Stone E.  Disease-Causing Mutations in the RPE65 Gene Abolish Retinoid Isomerase Activity.  Investigative Ophthalmology & Visual Science.  2007. 48:2960.

Thompson S, Philp A, Mullins R, Peirson S, Olvera M, Janutka J, East J, Stone E, Mrosovsky N.  Distinct Visual Response Phenotypes of Rod and Cone Degenerations in Mice.  Investigative Ophthalmology & Visual Science.  2007. 48:2494.

Spellicy C, Shankar S, Sullivan L, Bowne S, Stone E, Birch D, Daiger S.  Does the Complement Factor H (CFH) Tyr402His Polymorphism Affect the Retinal Phenotype of a Clinically Variable RDS Mutation?.  Investigative Ophthalmology & Visual Science.  2007. 48:4632.

Fung K, Stone E, Iannaccone A.  Enhanced-S Cone Syndrome (ESCS): 40-Year Retrospective Follow-Up Data, Adult-Onset Acute Development of Macular Retinoschisis (RS), and Response to Treatment With Acetazolamide.  Investigative Ophthalmology & Visual Science.  2007. 48:3704.

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

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

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

Shepard A, Jacobson N, Millar J, Pang I, Steely H, Searby C, Sheffield V, Stone E, Clark A.  Glaucoma-Causing Myocilin Mutants Require the Peroxisomal Targeting Signal-1 Receptor (PTS1R) to Elevate Intraocular Pressure.  Investigative Ophthalmology & Visual Science.  2007. 48:4806.

Fingert J, Honkanen R, Shankar S, Ehlinger M, Affatigato L, Jampol L, Scheetz T, Sheffield V, Stone E, Alward W.  Identification of a Novel Genetic Locus for Familial Cavitary Optic Disc Anomalies.  Investigative Ophthalmology & Visual Science.  2007. 48:4038.

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

Mullins R, Kuehn M, Faidley E, Olvera M, Syed N, Stone E.  Macular and Peripheral Expression of Bestrophin in Human Eyes: Potential Significance to the Pathophysiology of Best Disease.  Investigative Ophthalmology & Visual Science.  2007. 48:3016.

Stone E.  Macular degeneration.  Annual Review of Medicine.  2007. 58:477-90.
[Link]

Cideciyan A, Swider M, Aleman T, Roman M, Sumaroka A, Schwartz S, Stone E, Jacobson S.  Macular Disease Sequence in Patients With ABCA4-Associated Retinal Degenerations.  Investigative Ophthalmology & Visual Science.  2007. 48:3671.

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

Shankar S, Fingert J, Eyestone M, Daggett H, Sheffield V, Keech R, Stone E.  Novel FRMD7 Mutation Is Associated With X-Linked Idiopathic Congenital Nystagmus in a Large Pedigree From Iowa.  Investigative Ophthalmology & Visual Science.  2007. 48:1323.

Russell S, Abramoff M, Radosevich M, Heffron E, Stone E, Barriga E, Davis B, Soliz P.  Quantitative Assessment of Retinal Image Quality Compared to Subjective Determination.  Investigative Ophthalmology & Visual Science.  2007. 48:2607.

Aleman T, Cideciyan A, Sumaroka A, Windsor E, Naidu A, Schwartz S, Stone E, Jacobson S.  Retinal Remodeling in Human Retinitis Pigmentosa Caused by Rhodopsin Gene Mutations: Intraretinal and Inter-Class Differences.  Investigative Ophthalmology & Visual Science.  2007. 48:3736.

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

Shah S, Fingert J, Sutphin Jr J, Johnston R, Taylor C, Haines H, Hoffman J, Scheibe-Owens J, Sheffield V, Stone E.  Variations in the TCF8 Gene Are Associated With a Posterior Polymorphous Corneal Dystrophy Phenotype.  Investigative Ophthalmology & Visual Science.  2007. 48:5848.

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

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

Jacobson S, Cideciyan A, Aleman T, Sumaroka A, Schwartz S, Windsor E, Roman A, Heon E, Stone E, Thompson D.  RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.  Invest Ophthalmol Vis Sci.  2007 January. 48(1):332-8.
[Link]

Hewitt A, Bennett S, Fingert J, Cooper R, Stone E, Craig J, Mackey D.  The optic nerve head in myocilin glaucoma.  Invest Ophthalmol Vis Sci.  2007 January. 48(1):238-43.
[Link]

Traboulsi E, Koenekoop R, Stone E.  Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis.  Ophthalmic Genet.  2006 December. 27(4):113-5.
[Link]

Zangerl B, Goldstein O, Philp A, Lindauer S, Pearce-Kelling S, Mullins R, Graphodatsky A, Ripoll D, Felix J, Stone E, Acland G, Aguirre G.  Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.  Genomics.  2006 November. 88(5):551-63.
[Link]

Azari A, Aleman T, Cideciyan A, Schwartz S, Windsor E, Sumaroka A, Cheung A, Steinberg J, Roman A, Stone E, Sheffield V, Jacobson S.  Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.  Invest Ophthalmol Vis Sci.  2006 November. 47(11):5004-10.
[Link]

Scheetz T, Kim K, Swiderski R, Philp A, Braun T, Knudtson K, Dorrance A, DiBona G, Huang J, Casavant T, Sheffield V, Stone E.  Regulation of gene expression in the mammalian eye and its relevance to eye disease.  Proc Natl Acad Sci U S A.  2006 September 26. 103(39):14429-34.
[Link]

Grassi M, Fingert J, Scheetz T, Roos B, Ritch R, West S, Kawase K, Shire A, Mullins R, Stone E.  Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His.  Hum Mutat.  2006 September. 27(9):921-5.
[Link]

Jacobson S, Cideciyan A, Sumaroka A, Aleman T, Schwartz S, Windsor E, Roman A, Stone E, MacDonald I.  Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.  Invest Ophthalmol Vis Sci.  2006 September. 47(9):4113-20.
[Link]

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

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

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

Chiang A, Beck J, Yen H, Tayeh M, Scheetz T, Swiderski R, Nishimura D, Braun T, Kim K, Huang J, Elbedour K, Carmi R, Slusarski D, Casavant T, Stone E, Sheffield V.  Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).  Proc Natl Acad Sci U S A.  2006 April 18. 103(16):6287-92.
[Link]

Yen H, Tayeh M, Mullins R, Stone E, Sheffield V, Slusarski D.  Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function.  Hum Mol Genet.  2006 March 1. 15(5):667-77.
[Link]

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

Braun T, Shankar S, Davis S, O'Leary B, Scheetz T, Clark A, Sheffield V, Casavant T, Stone E.  Prioritizing regions of candidate genes for efficient mutation screening.  Hum Mutat.  2006 February. 27(2):195-200.
[Link]

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

Shankar S, Shire A, Laffin J, Streb L, Taylor C, Haines H, Janutka J, Megonigal M, Sheffield V, Stone E.  ABCA4 Sequence Variations in Somali and North American Populations.  Investigative Ophthalmology & Visual Science.  2006. 47:1699.

Stone E, Chiang A, Scheetz T, Kim K, Swiderski R, Nishimura D, Affatigato L, Huang J, Casavant T, Sheffield V.  Analysis of Correlated Gene Expression in a Large Cohort of Rats Assists the Discovery of Two New Genes Involved in Bardet Biedl Syndrome (BBS).  Investigative Ophthalmology & Visual Science.  2006. 47:5919.

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

Galvin J, Fishman G, Edwards A, Stone E.  Clinical Phenotypes and Vitamin A Treatment for Sorsby's Fundus Dystrophy.  Investigative Ophthalmology & Visual Science.  2006. 47:1422.

Pinto L, Vitaterna M, Shimomura K, Young B, Siepka S, Sheffield V, Stone E, Mullins R, Pletcher M, Takahashi J.  ENU-Induced nob4 Mutant Mouse Available to the Vision Research Community.  Investigative Ophthalmology & Visual Science.  2006. 47:5769.

Grassi M, Fingert J, Folk J, Scheetz T, Shire A, Ritch R, West S, Kawase K, Mullins R, Stone E.  Ethnic and Phenotypic Frequencies of Complement Factor H Polymorphism Y402H.  Investigative Ophthalmology & Visual Science.  2006. 47:4164.

Daiger S, Shankar S, Schindler A, Sullivan L, Bowne S, King T, Daw E, Stone E, Heckenlively J.  Genetic factors modifying clinical expression of autosomal dominant RP.  Advances in Experimental Medicine and Biology.  2006. 572:3-8.

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

Scheetz T, Kim K, Swiderski R, Braun T, Huang J, Casavant T, Sheffield V, Stone E.  Identification Of Regulatory Elements In The Mammalian Eye.  Investigative Ophthalmology & Visual Science.  2006. 47:5412.

Aleman T, Cideciyan A, Windsor E, Schwartz S, Garnder L, Emmons J, Duncan K, Steinberg J, Stone E, Jacobson S.  Macular Pigment in ABCA4-Associated Retinal Degenerations: Response to Lutein Supplementation.  Investigative Ophthalmology & Visual Science.  2006. 47:5810.

Zangerl B, Goldstein O, Lindauer S, Pearce-Kelling S, Philp A, Antosh A, Felix J, Stone E, Acland G, Aguirre G.  Novel Retinal Gene (PRCD) Causes Progressive Rod-Cone Degeneration in Canines and Humans.  Investigative Ophthalmology & Visual Science.  2006. 47:2972.

Cideciyan A, Swider M, Aleman T, Sumaroka A, Schwartz S, Roman M, Milam A, Bennett J, Stone E, Jacobson S.  Parapapillary Retina Is Spared Retinal Degeneration in Human ABCA4 Disease.  Investigative Ophthalmology & Visual Science.  2006. 47:2976.

Philp A, Mullins R, Searby C, Nishimura D, Ehlinger M, East J, Johnson R, Yang B, Stone E, Sheffield V.  Retinal Characterization of a Mouse Homozygous for the Mutation That is the Most Common Cause of Bardet-Biedl Syndrome in Man: Met390Arg in BBS1.  Investigative Ophthalmology & Visual Science.  2006. 47:5777.

Azari A, Aleman T, Cideciyan A, Schwartz S, Windsor E, Cheung A, Sumaroka A, Stone E, Sheffield V, Jacobson S.  Retinal Disease Expression in Bardet-Biedl Syndrome 1 (BBS1) Is a Spectrum from Maculopathy to Retina-Wide Degeneration.  Investigative Ophthalmology & Visual Science.  2006. 47:1425.

Fingert J, Kwon Y, Moore P, Johnston R, Kim K, Sheffield V, Alward W, Stone E.  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.  2006. 27(2):39-41.

Bennett S, Hewitt A, Richards J, Booth A, Inglehearn C, Anwar R, Kearns L, Stone E, Craig J, Mackey D.  The Gly252arg Myocilin Mutation Confers Glaucoma of Intermediate Severity.  Investigative Ophthalmology & Visual Science.  2006. 47:187.

Hewitt A, Bennett S, Poulsen J, Fingert J, McCartney P, Stone E, Craig J, Mackey D.  The Optic Disc in Myocilin Glaucoma.  Investigative Ophthalmology & Visual Science.  2006. 47:5445.

Fingert J, Alward W, Kwon Y, Shankar S, Moore P, Roos B, Sheffield V, Stone E.  Variants in the WDR36 Gene Are Not Associated With Open Angle Glaucoma in a Large Cohort of Patients From Iowa.  Investigative Ophthalmology & Visual Science.  2006. 47:5450.

Cideciyan A, Swider M, Aleman T, Sumaroka A, Schwartz S, Roman M, Milam A, Bennett J, Stone E, Jacobson S.  ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina.  Invest Ophthalmol Vis Sci.  2005 December. 46(12):4739-46.
[Link]

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

Mullins R, Oh K, Heffron E, Hageman G, Stone E.  Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation.  Arch Ophthalmol.  2005 November. 123(11):1588-94.
[Link]

Jacobson S, Aleman T, Cideciyan A, Sumaroka A, Schwartz S, Windsor E, Traboulsi E, Heon E, Pittler S, Milam A, Maguire A, Palczewski K, Stone E, Bennett J.  Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.  Proc Natl Acad Sci U S A.  2005 April 26. 102(17):6177-82.
[Link]

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

Galvin J, Fishman G, Stone E, Koenekoop R.  Clinical phenotypes in carriers of Leber congenital amaurosis mutations.  Ophthalmology.  2005 February. 112(2):349-56.
[Link]

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

Héon E, Westall C, Carmi R, Elbedour K, Panton C, Mackeen L, Stone E, Sheffield V.  Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.  Am J Med Genet A.  2005 January 30. 132A(3):283-7.
[Link]

Zaidman G, Seith R, Juechter K, Stone E.  A Multigenerational Analysis of a Family With H626R-Associated Lattice Corneal Dystrophy.  Final Program. American Academy of Ophthalmology Annual Meeting; Chicago, IL.  2005. 

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

Patel C, Stone E, Duffel P, Russell S.  Clinically Detectable Drusen Substructure in Fibulin 5 Associated Age - Related Macular Degeneration.  Investigative Ophthalmology & Visual Science.  2005. 46-Suppl:221.

Galvin J, Fishman G, Stone E, Koenekoop R.  Evaluation of genotype-phenotype associations in leber congenital amaurosis.  Retina.  2005. 25(7):919-29.
[Link]

Scheetz T, Braun T, Hageman G, Casavant T, Sheffield V, Soares M, Stone E.  Gene Discovery in the Human Visual System.  Investigative Ophthalmology & Visual Science.  2005. 46-Suppl:3100.

Swiderski R, Nishimura D, Mullins R, Andrews M, Stone E, Sheffield V.  Gene Expression Analysis of Photoreceptor Cell Loss in a Mouse Model of Bardet Biedl Syndrome 4 (Bbs4).  Investigative Ophthalmology & Visual Science.  2005. 46-Suppl:5248.

Pinto L, Vitaterna M, Shimomura K, Siepka S, McDearmon E, Fenner D, Lumayag S, Omura C, Andrews A, Baker M, Invergo B, Olvera M, Heffron E, Mullins R, Sheffield V, Stone E, Takahashi J.  Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse.  Vis Neurosci.  2005. 22(5):619-29.
[Link]

Stone E, Swiderski R, Kim K, Philp A, Knudtson K, DiBona G, Huang J, Sheffield V.  Genome-Wide Genetic Analysis of Gene Expression Variation in the Mammalian Eye.  Investigative Ophthalmology & Visual Science.  2005. 46-Suppl:2390.

Dilks S, Stone E, Pierce E.  Haploinsufficiency of Efemp1/Fibulin 3 Does Not Cause Drusen.  Investigative Ophthalmology & Visual Science.  2005. 46-Suppl:5282.

Shankar S, Carelli V, King T, Taylor C, Abdulkawy H, Braun T, Daiger S, Salomao S, Sadun A, Stone E.  Linkage Analysis of the X Chromosome in a Brazilian Family With Leber Hereditary Optic Neuropathy (LHON).  Investigative Ophthalmology & Visual Science.  2005. 46-Suppl:3100.

Fath M, Mullins R, Searby C, Nishimura D, Wei J, Rahmouni K, Davis R, Tayeh M, Andrews M, Yang B, Sigmund C, Stone E, Sheffield V.  Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.  Human Molecular Genetics.  2005. 14(9):1109-1118.

Pinto L, Vitaterna M, Shimomura K, Siepka S, Sheffield V, Stone E, Mullins R, Takahashi J.  Molecular Cloning of the Noerg - 1 Mutation in Mouse Shows Mutagenesis Can Generate Valid Disease Models.  Investigative Ophthalmology & Visual Science.  2005. 46-Suppl:3189.

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

Oh K, Weleber R, Stone E, Oh D, Rosenow J, Billingslea A.  Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.  Retina.  2004 December. 24(6):920-8.
[Link]

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

Pinto L, Vitaterna M, Siepka S, Shimomura K, Lumayag S, Baker M, Fenner D, Mullins R, Sheffield V, Stone E, Heffron E, Takahashi J.  Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus.  Vision Res.  2004 December. 44(28):3335-45.
[Link]

Nishimura D, Fath M, Mullins R, Searby C, Andrews M, Davis R, Andorf J, Mykytyn K, Swiderski R, Yang B, Carmi R, Stone E, Sheffield V.  Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.  Proc Natl Acad Sci U S A.  2004 November 23. 101(47):16588-93.
[Link]

Wright A, Reddick A, Schwartz S, Ferguson J, Aleman T, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, Cideciyan A, Stone E, Jacobson S, Swaroop A.  Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.  Hum Mutat.  2004 November. 24(5):439.
[Link]

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

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

Jacobson S, Sumaroka A, Aleman T, Cideciyan A, Schwartz S, Roman A, McInnes R, Sheffield V, Stone E, Swaroop A, Wright A.  Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration.  Hum Mol Genet.  2004 September 1. 13(17):1893-902.
[Link]

Healey D, Craig J, Wilkinson C, Stone E, Mackey D.  Attitudes to predictive DNA testing for myocilin glaucoma: experience with a large Australian family.  J Glaucoma.  2004 August. 13(4):304-11.
[Link]

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

Mykytyn K, Mullins R, Andrews M, Chiang A, Swiderski R, Yang B, Braun T, Casavant T, Stone E, Sheffield V.  Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly.  Proc Natl Acad Sci U S A.  2004 June 8. 101(23):8664-9.
[Link]

Wang Q, Chen S, Esumi N, Swain P, Haines H, Peng G, Melia B, McIntosh I, Heckenlively J, Jacobson S, Stone E, Swaroop A, Zack D.  QRX, a novel homeobox gene, modulates photoreceptor gene expression.  Hum Mol Genet.  2004 May 15. 13(10):1025-40.
[Link]

Oh K, Weleber R, Oh D, Billingslea A, Rosenow J, Stone E.  Clinical phenotype as a prognostic factor in Stargardt disease.  Retina.  2004 April. 24(2):254-62.
[Link]

Wang Q, Chen S, Esumi N, Swain P, Haines H, Peng G, Melia B, McIntosh I, Heckenlively J, Jacobson S, Stone E, Swaroop A, Zack D.  QRX, a Novel Homobox Gene, Modulates Photoreceptor Gene Expression.  Human Molecular Genetics.  2004 March. 13(10):1025-1040.

Cideciyan A, Aleman T, Swider M, Schwartz S, Steinberg J, Brucker A, Maguire A, Bennett J, Stone E, Jacobson S.  Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence.  Hum Mol Genet.  2004 March 1. 13(5):525-34.
[Link]

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

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

Lotery A, Yang G, Mullins R, Russell S, Schmidt M, Stone E, Lindbloom J, Chiorini J, Kotin R, Davidson B.  Adeno-associated virus type 5: transduction efficiency and cell-type specificity in the primate retina.  Hum Gene Ther.  2003 November 20. 14(17):1663-71.
[Link]

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

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

Schwartz S, Aleman T, Cideciyan A, Swaroop A, Jacobson S, Stone E.  De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa.  Invest Ophthalmol Vis Sci.  2003 August. 44(8):3593-7.
[Link]

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

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

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

Jacobson S, Cideciyan A, Aleman T, Pianta M, Sumaroka A, Schwartz S, Smilko E, Milam A, Sheffield V, Stone E.  Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.  Hum Mol Genet.  2003 May 1. 12(9):1073-8.
[Link]

Shepard A, Jacobson N, Sui R, Steely H, Lotery A, Stone E, Clark A.  Characterization of rabbit myocilin: Implications for human myocilin glycosylation and signal peptide usage.  BMC Genet.  2003 April 2. 4:5.
[Link]

Milam A, Barakat M, Gupta N, Rose L, Aleman T, Pianta M, Cideciyan A, Sheffield V, Stone E, Jacobson S.  Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.  Ophthalmology.  2003 March. 110(3):549-58.
[Link]

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

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

Eliason D, Affatigato L, Haines H, Rosenthal E, Lotery A, Stone E.  A Case of Stargardt Macular Dystrophy Caused by Unipatental Isodisomy (UPID) and Subsequent Analysis of 830 Stargardt Macular Dystrophy Cases for UPID.  Investigative Ophthalmology & Visual Science.  2003. 44-Suppl.

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

Dupps W, Rauen M, Andorf J, Schrum K, Melendez K, Stone E.  A Novel GCAP1 Missense Mutation in a Family with Autosomal Dominant Cone-Rod Dystrophy.  Investigative Ophthalmology & Visual Science.  2003. 44-Suppl.

Brantley M, Kurz-Levin M, Eastman C, Roos B, Holder G, Bird A, Stone E, Webster A.  ABCA4 Variations in Patients with Bull’s-eye Maculopathy.  Investigative Ophthalmology & Visual Science.  2003. 44-Suppl.

Shankar S, Kazma P, Birch D, Hughbanks-Wheaton D, Locke K, Ruiz R, Sullivan L, Bowne S, Stone E, Daiger S.  Analysis of Protein Haplotypes in Trans as Factors Modifying Phenotypic Variation of Retinal Dystrophies Caused by a Splice Site Mutation in the Peripherin/RDS Gene.  Investigative Ophthalmology & Visual Science.  2003. 44-Suppl.

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

Kitchens J, Lotery A, Russell S, Clark A, Stone E.  Anecortave Acetate Monotherapy for the Treatment of Occult and Minimally Classic Choroidal Neovascularization in Age-related Macular Degeneration.  Investigative Ophthalmology & Visual Science.  2003. 44-Suppl.

Keuhn M, Sheffield V, Stone E, Alward W, Kwon Y.  Characterization of Gene Expression Patterns in the Developing Retina of Normal and NR2E3 Mutant Mice.  Investigative Ophthalmology & Visual Science.  2003. 44-Suppl.

Shepard A, Jacobson N, Sui R, Steely H, Lotery A, Stone E, Clark A.  Characterization of Rabbit Myocilian: Implications for Human Myocilin Glycosylation and Signal Peptide Useage.  BMC Genetics.  2003. 4:5.

Grover S, Fishman G, Stone E.  Clinical Features of a Severe Form of Autosomal Dominant Retinitis Pigmentosa in a Large Family with a Novel IMPDH1 Mutation.  Investigative Ophthalmology & Visual Science.  2003. 44-Suppl.

Galvin J, Fishman G, Stone E, Secrist J, Roos B, Lopez I, Koenekoop R.  Clinical Phenotypes Associated with Specific Genotypes in Leber Congenital Amaurosis (LCA).  Investigative Ophthalmology & Visual Science.  2003. 44-Suppl.

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

Covert D, Oh K, Vallar C, Parkin A, Bowie E, Stone E.  Correlation of Clinical Phenotype with Multifoval ERGs in Patients with Stargardt Disease/Fundus, Flavimaculatus.  Investigative Ophthalmology & Visual Science.  2003. 44-Suppl.

Cideciyan A, Aleman T, Swider M, Smilko E, Schwartz S, Chico J, Maguire M, Bennett J, Stone E, Jacobson S.  Delay of Rod Dark Adaptation Correlates with the Extent of Local Disease in ABCA4-associated Retinal Degenerations.  Investigative Ophthalmology & Visual Science.  2003. 44-Suppl.

White J, Oh K, Shields K, Oh D, Weleber R, Streb L, Winnicki J, Weaver G, Stone E.  Description of the Natural History of Autosomal Dominant Retinitis Pigmentosa Caused by an Arg135Leu Mutation in Rhodopsin in a Nine Generation Family.  Investigative Ophthalmology & Visual Science.  2003. 44-Suppl.

Pinto L, Lumayag S, Grabowski N, Vitaterna M, Mullins R, Heffron E, Sheffield V, Stone E, Siepke S, Takahashi J.  Dominant Mutation Induced by Chemical Mutagenesis Affecting Mouse ERG and Fundus.  Investigative Ophthalmology & Visual Science.  2003. 44-Suppl.

Stone E.  Finding and interpreting genetic variations that are important to ophthalmologists.  American Journal of Ophthalmology.  2003. 101:437-484.

Howard J, Jacobson D, Hayreh S, Taylor C, Secrist J, Phillips N, Stone E.  Identification of a Novel mtDNA Mutation in a Family with an Anterior Ischemic Optic Neuropahty Phenotype.  Investigative Ophthalmology & Visual Science.  2003. 44-Suppl.

Braun T, Abdulkawy H, Brown B, Davis S, O'Leary B, Ritchison J, Scheetz T, Sheffield V, Casavant T, Stone E.  Inferring Pathogenicity to Prioritize Candidate Disease-Causing Sequence Variations.  Investigative Ophthalmology & Visual Science.  2003. 44-Suppl.

Fingert J, Streb L, Moore P, Randolph M, Sheffield V, Stone E.  Linkage of a Large Pattern Dystrophy Pedigree to Chromosome 6p21.  Investigative Ophthalmology & Visual Science.  2003. 44-Suppl.

Lotery A, Jacobson S, Weleber R, Iannaccone A, Namperumalsamy P, Fishman G, Levin A, Lam B, Heon E, Stone E.  Prevalence of Mutations in the RPE65, CRX, AIPL1, TULP1, GUCY2D and CRB1 Genes in Leber Congenital Amaurosis.  Investigative Ophthalmology & Visual Science.  2003. 44-Suppl.

Carelli V, Wang K, Valentino M, Shankar S, Salomao S, Belford R, Sadun A, Stone E.  Segregation Analysis of a Large LHON Pedigree is Consistent With the Existence of a Nuclear Modifying Gene.  Investigative Ophthalmology & Visual Science.  2003. 44-Suppl.

Cideciyan A, Aleman T, Swider M, Schwartz S, Steinberg J, Brucker A, Maguire A, Bennett J, Stone E, Jacobson S.  Sequence of Lipofuscin Accumulation Retinoid Cycle Slowing and Retinal Degeneration in Human ABCA4 Disease.  Investigative Ophthalmology & Visual Science.  2003. 44-Suppl.

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

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

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

Grover S, Fishman G, Stone E.  Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations.  Ophthalmology.  2002 June. 109(6):1110-7.
[Link]

Héon E, Greenberg A, Kopp K, Rootman D, Vincent A, Billingsley G, Priston M, Dorval K, Chow R, McInnes R, Heathcote G, Westall C, Sutphin J, Semina E, Bremner R, Stone E.  VSX1: a gene for posterior polymorphous dystrophy and keratoconus.  Hum Mol Genet.  2002 May 1. 11(9):1029-36.
[Link]

Lotery A, Derksen T, Russell S, Mullins R, Sauter S, Affatigato L, Stone E, Davidson B.  Gene transfer to the nonhuman primate retina with recombinant feline immunodeficiency virus vectors.  Hum Gene Ther.  2002 April 10. 13(6):689-96.
[Link]

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

Jacobson S, Cideciyan A, Bennett J, Kingsley R, Sheffield V, Stone E.  Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy.  Arch Ophthalmol.  2002 March. 120(3):376-9.
[Link]

Borges A, Susanna R, Carani J, Betinjane A, Alward W, Stone E, Sheffield V, Nishimura D.  Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil.  J Glaucoma.  2002 February. 11(1):51-6.
[Link]

Milam A, Rose L, Cideciyan A, Barakat M, Tang W, Gupta N, Aleman T, Wright A, Stone E, Sheffield V, Jacobson S.  The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration.  Proc Natl Acad Sci U S A.  2002 January 8. 99(1):473-8.
[Link]

Graul T, Kwon Y, Zimmerman M, Kim C, Sheffield V, Stone E, Alward W.  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.  2002. 134(6):884-890.

Stone E, Fishman G, White M, Eliason D, Lindeman M, Sheffield V.  ABCA4 Sequence Variation in Patients with Cone-Rod Dystrophy.  Investigative Ophthalmology & Visual Science.  2002. 43-Suppl.

Barakar M, Rose L, Tang W, Aleman T, Pianta M, Cideciyan A, Sheffield V, Stone E, Jacobson S, Milam A.  Clinicopathologic Analysis of the Retina of a Young Patient with Leber Congenital Amaurosis.  Investigative Ophthalmology & Visual Science.  2002. 43-Suppl.

Oh K, Weleber R, Billingslea A, Oh D, Moore P, Knudson M, Stone E.  Electroretinographic Findings in Patients with Stargardt Disease and Fundus Flavimaculatus.  Investigative Ophthalmology & Visual Science.  2002. 43-Suppl.

Fingert J, Affatigato L, Secrist J, Shankar S, Sheffield V, Stone E.  Identification of a Novel OPA1 Mutation in a Large Family With a Severe Dominant Optic Atrophy Phenotype.  Investigative Ophthalmology & Visual Science.  2002. 43-Suppl.

Pianta M, Aleman T, Cideciyan A, Sunness J, Li Y, Campochiaro B, Campochiaro P, Zack D, Stone E, Jacobson S.  In Vivo Micropathology of Best Macular Dystrophy.  Investigative Ophthalmology & Visual Science.  2002. 43-Suppl.

Clark A, Wang W, McNatt L, Hellberg P, Pang I, Rubin J, Fingert J, Sheffield V, Stone E.  Increased Expression of sFRP-1 in Glaucomatous Trabecular Meshwork and Presence of a Functional WNT Signaling Pathway that Regulates IOP.  Investigative Ophthalmology & Visual Science.  2002. 43-Suppl.

Fingert J, Stone E, Sheffield V, Alward W.  Myocilin glaucoma.  Survey of Ophthalmology.  2002. 47(6):547-561.

Alward W, Kwon Y, Khanna C, Johnson A, Hayreh S, Zimmerman M, Fingert J, Roos B, Sheffield V, Stone E.  Myocilin mt1 Promotor Polymorphisms in Adult-onset Primary Open Angle Glaucoma.  Investigative Ophthalmology & Visual Science.  2002. 43-Suppl.

Kayser D, Andorf J, Taylor C, Haines H, Stone E.  Natural History of Patients with Stargardt-Like Dominant Macular Associated with Recently Described ELOVL4 Mutations.  Investigative Ophthalmology & Visual Science.  2002. 43-Suppl.

Grassi M, Hayreh S, Stone E, Lentz S, Lotery A.  Role of Hereditary Thrombophilia in the Pathogenesis of Central Retinal Vein Occlusion.  2002. 

Rose L, Cideciyan A, Barakar M, Gupta N, Aleman T, Wright A, Stone E, Sheffield V, Jacobson S, Milam A.  The Nuclear Receptor NR2E3 Plays a Role in Human Retinal Photoreceptor Differentiation and Degeneration.  Invest Ophthalmol Vis Sci.  2002. 43-Suppl.

Lotery A, Dersken T, Russell S, Mullins R, Yang G, Kopp K, Eastman C, Stone E, Davidson B.  Tropism of AAV2 and AAV5 Vectors in the Non-human Primate Retina.  Investigative Ophthalmology & Visual Science.  2002. 43-Suppl.

Biswas S, Black G, Munier F, Noble B, Hackett A, Stone E, Bonshek R, McLeod D, Schorderet D.  Two Forms of Corneal Endothelial Dystrophy Caused by Mutations in COL8A2: The Gene Encoding the Alpha-2 Chain of Type VIII Collagen.  Investigative Ophthalmology & Visual Science.  2002. 43-Suppl.

Heon E, Kopp K, Bremmer R, Rootman D, Chow R, Dorval K, Vincent A, Westall C, Sutphin J, Stone E.  VSX1: A gene for Posterior Polymorphous Dystrophy and Keratoconus.  Investigative Ophthalmology & Visual Science.  2002. 43-Suppl.

Shepard A, Jacobson N, Fingert J, Stone E, Sheffield V, Clark A.  Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cells.  Invest Ophthalmol Vis Sci.  2001 December. 42(13):3173-81.
[Link]

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

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

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

Milam A, De Castro E, Smith J, Tang W, John S, Gorin M, Stone E, Aguirre G, Jacobson S.  Concentric retinitis pigmentosa: clinicopathologic correlations.  Exp Eye Res.  2001 October. 73(4):493-508.
[Link]

Biswas S, Munier F, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin J, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield V, Stone E, Schorderet D, Black G.  Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.  Hum Mol Genet.  2001 October 1. 10(21):2415-23.
[Link]

Stone E, Sheffield V, Hageman G.  Molecular genetics of age-related macular degeneration.  Hum Mol Genet.  2001 October 1. 10(20):2285-92.
[Link]

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

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

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

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

Sheffield V, Nishimura D, Stone E.  The molecular genetics of Bardet-Biedl syndrome.  Curr Opin Genet Dev.  2001 June. 11(3):317-21.
[Link]

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

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

Wang W, McNatt L, Shepard A, Jacobson N, Nishimura D, Stone E, Sheffield V, Clark A.  Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR.  Mol Vis.  2001 April 17. 7:89-94.
[Link]

Donoso L, Frost A, Stone E, Weleber R, MacDonald I, Hageman G, Cibis G, Ritter R, Edwards A.  Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity.  Arch Ophthalmol.  2001 April. 119(4):564-70.
[Link]

Nishimura D, Searby C, Carmi R, Elbedour K, Van Maldergem L, Fulton A, Lam B, Powell B, Swiderski R, Bugge K, Haider N, Kwitek-Black A, Ying L, Duhl D, Gorman S, Heon E, Iannaccone A, Bonneau D, Biesecker L, Jacobson S, Stone E, Sheffield V.  Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).  Hum Mol Genet.  2001 April 1. 10(8):865-74.
[Link]

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

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

Jacobson N, Andrews M, Shepard A, Nishimura D, Searby C, Fingert J, Hageman G, Mullins R, Davidson B, Kwon Y, Alward W, Stone E, Clark A, Sheffield V.  Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.  Hum Mol Genet.  2001 January 15. 10(2):117-25.
[Link]

Russell S, Lotery A, Derksen T, Davidson B, Stone E.  A Manual, Remotely Actuated Injector for Sub-Retinal Gene Therapy in Non-Human Primates.  Investigative Ophthalmology & Visual Science.  2001. 42-Suppl:673.

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

Donoso L, Edwards A, Frost A, Vrabec T, Stone E, Hageman G, Perski T.  Autosomal dominant Stargardt-like macular dystrophy.  Surv Ophthalmol.  2001. 46(2):149-63.
[Link]

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

Kawase C, Kawase K, Yamamoto T, Alward W, Stone E, Nishimura D, Sheffield V.  Clinical Features of Axenfeld’s Anomaly with FOXC1/FKHL7 Mutation in Japanese.  Investigative Ophthalmology & Visual Science.  2001. 42-Suppl:3039.

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

Longmuir R, Oh K, Oh D, Brown J, Affatigato L, Haines H, Andorf J, Weleber R, Stone E.  Comparison of the Severity of Retinitis Pigmentosa Associated with Mutations at Codon 347 and Codon 23 of Rhodopsin.  Investigative Ophthalmology & Visual Science.  2001. 42-Suppl:426.

Milam A, de Castro E, Smith J, John S, Stone E, Gorin M, Aguirre G, Jacobson S.  Concentric Retinitis Pigmentosa (RP): Clinicopathologic Correlations.  Investigative Ophthalmology & Visual Science.  2001. 42-Suppl:357.

Shepard A, Jacobson N, Fingert J, Stone E, Sheffield V, Clark A.  Delayed Secondary Glucocorticoid Responsiveness of the Glaucoma Gene Myocilin in Human Trabecular Meshwork Cells.  Investigative Ophthalmology & Visual Science.  2001. 42-Suppl:762.

Lotery A, Dersken T, Mullins R, Kopp K, Rosenow J, Stone E, Davidson B, Sauter S, Russell S.  Evaluation of Lentiviral Vectors as Possible Agents for Gene Therapy to the Neurosensory Retina in a Non-Human Primate Model.  Investigative Ophthalmology & Visual Science.  2001. 42-Suppl:1862.

Clark A, Jacobson N, Shepard A, Kwon Y, Hageman G, Zhang X, McLaughlin M, Yorio T, Sheffield V, Stone E.  Expression of Myocilin in Human and Rabbit Aqueous Humor.  Investigative Ophthalmology & Visual Science.  2001. 42-Suppl:4480.

Clark A, Kawase K, English-Wright S, Lane D, Steely H, Yamamoto T, Kitazawa Y, Kwon Y, Fingert J, Swiderski R, Mullins R, Hageman G, Alward W, Sheffield V, Stone E.  Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head.  FASEB Journal.  2001. 15(7):1251-1253.

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

Mackey D, Craig J, Healey D, Rait J, Coote M, Fingert J, Stone E.  Glaucoma Phenotype in Australian Pedigrees with Myocilin Thr377Met Mutation.  Investigative Ophthalmology & Visual Science.  2001. 42-Suppl:3030.

Sui H, Lotery A, Shepard A, Taylor C, Moore P, Clarke A, Sheffield V, Swiderski R, Alward W, Stone E.  Molecular Cloning of the Rabbit Myocilin Gene.  Investigative Ophthalmology & Visual Science.  2001. 42-Suppl:3034.

Stone E.  Molecular Genetic Basis of Open Angle Glaucoma.  Investigative Ophthalmology & Visual Science.  2001. 42-Suppl:27.

Stone E, Lotery A, Jacobson S, Fishman G, Weleber R, Fulton A, Namperumalsamy P, Heon E, Levin A, Sheffield V.  Mutations in the CRB1 Gene Cause Leber Congenital Amaurosis.  Investigative Ophthalmology & Visual Science.  2001. 42-Suppl:1739.

Pepperbar D, Kang Derwent J, Grover S, Hetling J, Birch D, Stone E, Fishman G.  Rod Recovery From a Weak Bleaching Flash in Normals, and in Patients with Stargardt Disease and an ABCR Mutation.  Investigative Ophthalmology & Visual Science.  2001. 42-Suppl:4203.

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

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

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

Miano M, Jacobson S, Carothers A, Hanson I, Teague P, Lovell J, Cideciyan A, Haider N, Stone E, Sheffield V, Wright A.  Pitfalls in homozygosity mapping.  Am J Hum Genet.  2000 November. 67(5):1348-51.
[Link]

Swiderski R, Ross J, Fingert J, Clark A, Alward W, Stone E, Sheffield V.  Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization.  Invest Ophthalmol Vis Sci.  2000 October. 41(11):3420-8.
[Link]

Oh K, Weleber R, Lotery A, Oh D, Billingslea A, Stone E.  Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation.  Arch Ophthalmol.  2000 September. 118(9):1269-76.
[Link]

Slavotinek A, Stone E, Mykytyn K, Heckenlively J, Green J, Heon E, Musarella M, Parfrey P, Sheffield V, Biesecker L.  Mutations in MKKS cause Bardet-Biedl syndrome.  Nat Genet.  2000 September. 26(1):15-6.
[Link]

Van Hooser J, Aleman T, He Y, Cideciyan A, Kuksa V, Pittler S, Stone E, Jacobson S, Palczewski K.  Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness.  Proc Natl Acad Sci U S A.  2000 July 18. 97(15):8623-8.
[Link]

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

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

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

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

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

Ghiasvand N, Kanis A, Helms C, Sheffield V, Stone E, Donis-Keller H.  Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21.  Am J Med Genet.  2000 January 17. 90(2):165-8.
[Link]

Slavoinek A, Stone E, Heckenlively J, Green J, Heon E, Musarella M, Parfrey P, Sheffield V, Bisecker L.  Bardet-Biedl Syndrome is Caused by Mutations in the MKKS Gene, a Putative Chaperonin.  The American Journal of Human Genetics.  2000. 67-Suppl:234.

Maguire A, Gupta A, Stone E, Aleman T, Cideciyan A, Milam A, Jacobson S, Bennett J.  Choroidal Neovascularization and Retinal Degeneration in Mice Transgenic for Mutant Human Timp-3.  Experimental Eye Research.  2000. 69-Suppl 1:408.

Stone E.  Gene Directed Therapy for Macular Disease.  Experimental Eye Research.  2000. 69-Suppl 1:220.

Kawase K, Kawase C, Udo M, Yoh M, Yamamoto T, Kitazawa Y, Fingert J, Alward W, Stone E, Semina E, Nishimura D, Sheffield V.  Genetic Variation in Five Glaucoma-Related Genes in Japanese Patients with Juvenile Glaucoma and Congenital Glaucoma.  Investigative Ophthalmology & Visual Science.  2000. 41-Suppl:824.

Nishimura D, Searby C, Borges A, Carani J, Betinjane A, Stone E, Susanna R, Alward W, Sheffield V.  Identification of a Fourth Rieger Syndrome Locus at 16q24.  The American Journal of Human Genetics.  2000. 67-Suppl:2146.

Webster A, Brown Jr J, Sheffield V, Stone E.  Molecular Genetics of Retinal Diseases.  The CV Mosby Company, St Louis, MO.  2000. 

Stone E, Haider N, Jacobson S, Cideciyan A, Swiderski R, Bennett J, Weleber R, Fishman G, Wright A, Sheffield V.  Mutations in a Photoreceptor-Specific Nuclear Receptor (NR2E3) Cause the Enhanced S-Cone Syndrome.  Investigative Ophthalmology & Visual Science.  2000. 41-Suppl:94.

Sheffield V, Andrews M, Shepard A, Jacobson N, Searby C, Nishimura D, Kwon Y, Davidson B, Hageman G, Alward W, Clark A, Stone E.  Mutations in the Glaucoma Gene, MYOC, Result in Normal Synthesis but Abnormal Secretion of the Myocilin Protein.  The American Journal of Human Genetics.  2000. 67-Suppl:2173.

Heon E, Westall C, Carmi R, Elbedours K, Panton C, Mackeen L, Stone E, Sheffield V.  Phenotypic Characterization of Three Genetically Distinct Forms of Bardet-Biedl Syndrome.  The American Journal of Human Genetics.  2000. 67-Suppl:703.

Allen R, Russell S, Andorf J, Stone E.  Phenotypic Heterogeneity Associated with a Novel Mutation (Gly112Glu) in the Norrie Disease Protein (NDP).  Investigative Ophthalmology & Visual Science.  2000. 41-Suppl:30.

Alward W, Kwon Y, Khanna C, Hayreh S, Johnson A, Sheffield V, Stone E.  Prevalence of Myocillin (GLC1A) Mutations in a Large Consecutive Unselected Series of Open Angle Glaucoma Patients and Glaucoma Suspects.  Investigative Ophthalmology & Visual Science.  2000. 41-Suppl:526.

Srivistava S, Sheridan J, Drack A, Stone E, Saperstein D.  RDS Mutation (Trp316Stop) Results in Butterfly Pattern Macular Dystrophy in an African-American Family.  Investigative Ophthalmology & Visual Science.  2000. 41-Suppl:885.

Sheffield V, Alward W, Stone E.  The Glaucomas.  McGraw Hill.  2000. 

Clark A, Shepard A, Wang W, Fingert J, Stone E.  Using Altered Gene Expression in the Trabecular Meshwork to Identify Glaucoma Candidate Genes.  Experimental Eye Research.  2000. 69-Suppl 1:560.

Lotery A, Sheffield V, Hageman G, Affatigato L, Haines H, Stone E.  What Can Dominant Macular Dystrophies Teach Us About Age Related Macular Degeneration.  Experimental Eye Research.  2000. 69-Suppl 1:549.

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

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

Haider N, Searby C, Galperin E, Mintz L, Horowitz M, Stone E, Sheffield V.  Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1).  Gene.  1999 November 15. 240(1):227-32.
[Link]

Zack D, Dean M, Molday R, Nathans J, Redmond T, Stone E, Swaroop A, Valle D, Weber B.  What can we learn about age-related macular degeneration from other retinal diseases?.  Mol Vis.  1999 November 3. 5:30.
[Link]

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

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

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

Swiderski R, Ying L, Cassell M, Alward W, Stone E, Sheffield V.  Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain.  Brain Res Mol Brain Res.  1999 May 7. 68(1-2):64-72.
[Link]

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

Fishman G, Stone E, Grover S, Derlacki D, Haines H, Hockey R.  Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.  Arch Ophthalmol.  1999 April. 117(4):504-10.
[Link]

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

Papaioannou M, Lois N, Bird A, Stone E, Payne A, Bhattacharya S.  ABCR Mutations in British Patients with Recessive Retinal Degenerations and Demonstration of a Founder Effect ABCR.  Investigative Ophthalmology & Visual Science.  1999. 40-Suppl:4088.

Lotery A, Vandenburgh K, Haines H, Streb L, Hockey R, Beck G, Sheffield V, Stone E.  Allelic Variation of the Fibulin-1 Gene in Age Related Macular Degeneration.  The American Journal of Human Genetics.  1999. 65-Suppl:2604.

Iannaccone A, Falsini B, Haider N, Del Porto G, Stone E, Sheffield V.  Bardet-Biedl Syndrome Phenotypic Characteristics Associated with the BBS4 Locus.  Kluwer Academics/Plenum Publishers, New York.  1999. 1:189-199.

Honkanen R, Nishimura D, Kwon Y, Stone E, Sheffield V, Alward W.  Clinical Features of a Family with a Forkhead Transcription Factor (FKHL7) Mutation.  Investigative Ophthalmology & Visual Science.  1999. 40-Suppl:2696.

Chen S, Freund C, Liu Y, Swain P, Wang Q, Xu S, Jacobson S, Sieving P, Stone E, McInnes R, Zack D.  Clinical Features of a Family with a Forkhead Transcription Factor (FKHL7) Mutation.  Investigative Ophthalmology & Visual Science.  1999. 40-Suppl:890.

Swiderski R, Reiter R, Nishimura D, Ying L, Lin J, Alward W, Stone E, Sheffield V.  Comparative Expression of Congenital and Late-Onset Glaucoma Genes.  Investigative Ophthalmology & Visual Science.  1999. 40-Suppl:418.

Kanis A, AlRajhi A, Taylor C, Mathers W, Folberg R, Nishimura D, Sheffield V, Stone E.  Exclusion of the AR-CHED from the Chromosome 20 Region Containing the PPMD and AD-CHED Loci.  The American Journal of Human Genetics.  1999. 65-Suppl:1704.

Clark A, English-Wright S, Olane D, Steely H, Fingert J, Stone E.  Expression of the Glaucoma Gene Myocilin in Cells of the Human Optic Nerve Head.  Investigative Ophthalmology & Visual Science.  1999. 40-Suppl:3555.

Shastri M, Scheetz T, Nishimura D, Cornier A, Cox G, Fulton A, Stone E, Sheffield V.  Fine Mapping of the 11q13 Bardet-Biedl Syndrome1 (BBS1) Locus and Use of the Rat EST Map to Identify BBS1 Candidate Genes.  The American Journal of Human Genetics.  1999. 65-Suppl:2525.

Nishimura D, Searby C, Walton D, Patil S, Kanis A, Stone E, Alward W, Sheffield V.  Gene Dosage of a 6p25 Gene Causes Defects of the Anterior Chamber of the Eye: FKHL7 or HFH1?.  The American Journal of Human Genetics.  1999. 65-Suppl:585.

Sheffield V, Nishimura D, Kanis A, Walton D, Alward W, Stone E.  Gene Dosage of the FKHL7 Gene Causes Defects of the Anterior Chamber of the Eye.  Investigative Ophthalmology & Visual Science.  1999. 40-Suppl:3127.

Ying L, Fingert J, Stone E, Sheffield V.  Generation and Analysis of Myocilin Transgenic Mice.  The American Journal of Human Genetics.  1999. 65-Suppl:2847.

Craig J, Mackey D, Baird P, McNaught A, Dickinson J, Rait J, Coote M, Healey D, Fingert J, Stone E.  Glaucoma Phenotype Associated with the GLC1A Gln368 STOP Mutation from the Glaucoma Inheritance Study in Tasmania.  The American Journal of Human Genetics.  1999. 65-Suppl:1492.

Walder R, Borochowitz Z, Shalev H, Carmi R, Elbedour K, Scott D, Stone E, Sheffield V.  Hypomagnesemia with Secondary Hypocalcemia (HSH): Narrowing the Disease Region on Chromosome 9.  The American Journal of Human Genetics.  1999. 65-Suppl:2562.

Fingert J, Clark A, Streb L, Alward W, Sheffield V, Stone E.  Identification and Evaluation of Glaucoma Candidate Genes.  Investigative Ophthalmology & Visual Science.  1999. 40-Suppl:3129.

Swiderski R, Fingert J, Ross J, Alward W, Hageman G, Stone E, Sheffield V.  Localization of MYOC (GLC1A) Transcripts in Human Eye and Optic Nerve by In Situ Hybridization.  The American Journal of Human Genetics.  1999. 65-Suppl:2156.

Allen R, Webster A, Taylor C, Andorf J, Stone E.  Molecular Characterization and Ophthalmic Investigation of Type 2A von Hippel-Lindau (VHL) Disease.  Investigative Ophthalmology & Visual Science.  1999. 40-Suppl:3031.

Craig J, Mackey D, Baird P, Rait J, Stone E.  Phenotype of Patients with the GLC1A Gln368STOP Mutations from the Glaucoma Inheritance Study in Tasmania.  Ophthalmology.  1999. 106(9A):253.

Iannaccone A, Falsini B, Haider N, Iarossi G, Stone E, Sheffield V.  Phenotypic Manifestations of Bardet-Biedl Syndrome Associated with the BBS4 Locus.  Investigative Ophthalmology & Visual Science.  1999. 40-Suppl:3808.

Shappell K, Haynes W, Mark A, Stone E, Hageman G.  Retinal Outer Segment Degeneration in Koletsky Rats.  Investigative Ophthalmology & Visual Science.  1999. 40-Suppl:5135.

Gupta A, Maguire A, Milam A, Cideciyan A, Kingsley R, Stone E, Jacobson S, Bennett J.  Retinopathy in Mice Transgenic for a Mutant Human TIMP3 Gene that Causes Sorsby Fundus Dystrophy.  Investigative Ophthalmology & Visual Science.  1999. 40-Suppl:4848.

Aleman T, Cideciyan A, Hanna D, Huang J, Stone E, Jacobson S.  Rod Function in ABCR-Associated Retinal Degenerations.  Investigative Ophthalmology & Visual Science.  1999. 40-Suppl:3804.

Kawase K, Alward W, Kawase C, Fingert J, Usi M, Stone E, Yamamoto T, Sheffield V, Kitazawa Y.  Sequence Variation of GLC1A (MYOC/TIGR) Gene in Japanese Patients with Normal-Tension Glaucoma and Ocular Hypertension.  Investigative Ophthalmology & Visual Science.  1999. 40-Suppl:416.

Lotery A, Maturi R, Webster A, Vandenburgh K, Haines H, Stone E.  The Human FASL Gene Sequence is Highly Constrained in Normals and Idiopathic Posterior Uveitis Patients.  Investigative Ophthalmology & Visual Science.  1999. 40-Suppl:4568.

Buys Y, Williams-Lyn D, Trope G, Flanagan J, Affatigato L, Stone E, Héon E.  The Role of the Myocilin Gene in Adult-Onset Glaucoma.  Investigative Ophthalmology & Visual Science.  1999. 40-Suppl:406.

Jacobson S, Cideciyan A, Huang Y, Hanna D, Freund C, Affatigato L, Carr R, Zack D, Stone E, McInnes R.  Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.  Invest Ophthalmol Vis Sci.  1998 November. 39(12):2417-26.
[Link]

Sheffield V, Stone E, Carmi R.  Use of isolated inbred human populations for identification of disease genes.  Trends Genet.  1998 October. 14(10):391-6.
[Link]

Millá E, Héon E, Grounauer P, Piguet B, Ducrey N, Stone E, Schorderet D, Munier F.  Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa.  Ophthalmic Genet.  1998 September. 19(3):131-9.
[Link]

Jacobson D, Stone E, Miller N, Pollock S, Fletcher W, McNussen P, Martin T.  Relative afferent pupillary defects in patients with Leber hereditary optic neuropathy and unilateral visual loss.  Am J Ophthalmol.  1998 August. 126(2):291-5.
[Link]

Cideciyan A, Hood D, Huang Y, Banin E, Li Z, Stone E, Milam A, Jacobson S.  Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.  Proc Natl Acad Sci U S A.  1998 June 9. 95(12):7103-8.
[Link]

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

Howe J, Roth S, Ringold J, Summers R, Järvinen H, Sistonen P, Tomlinson I, Houlston R, Bevan S, Mitros F, Stone E, Aaltonen L.  Mutations in the SMAD4/DPC4 gene in juvenile polyposis.  Science.  1998 May 15. 280(5366):1086-8.
[Link]

Howe J, Ringold J, Summers R, Mitros F, Nishimura D, Stone E.  A gene for familial juvenile polyposis maps to chromosome 18q21.1.  Am J Hum Genet.  1998 May. 62(5):1129-36.
[Link]

Alward W, Fingert J, Coote M, Johnson A, Lerner S, Junqua D, Durcan F, McCartney P, Mackey D, Sheffield V, Stone E.  Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A).  N Engl J Med.  1998 April 9. 338(15):1022-7.
[Link]

Fingert J, Ying L, Swiderski R, Nystuen A, Arbour N, Alward W, Sheffield V, Stone E.  Characterization and comparison of the human and mouse GLC1A glaucoma genes.  Genome Res.  1998 April. 8(4):377-84.
[Link]

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

Lotery A, Webster A, Héon E, Levin A, Barr E, Wiles C, Sheffield V, Stone E.  A Survey of Populations for Specific Variants in the ABCR Gene Using a Multiplex Allele-Specific PCR Assay.  The American Journal of Human Genetics.  1998. 63-Suppl:2153.

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

Sheffield V, Webster A, Streb L, Taylor C, Vandenburgh K, Hockey R, Stone E.  Analysis of Allelic Variation of the ABCR and Bestrophin Genes in Early-Onset Maculopathy and Age-Related Macular Degeneration.  The American Journal of Human Genetics.  1998. 63-Suppl:2235.

Nystuen , Benke P, Mohrenweiser H, Burmeister M, Stone E, Sheffield V.  Analysis of Candidate Genes for the Cayman Cerebellar Ataxia Locus on Chromosome 19p13.3.  The American Journal of Human Genetics.  1998. 63-Suppl:1475.

Fingert J, Dickinson J, Héon E, Liebmann J, Yamamoto T, Kawase K, Koh S, Trope G, Craig J, Kitazawa Y, Ritch R, Mackey D, Alward W, Sheffield V, Stone E.  Analysis of Myocilin Mutations in 1800 Glaucoma Patients from Five Different Populations.  The American Journal of Human Genetics.  1998. 63-Suppl:2087.

Park D, Arbour N, Brown D, Stone E.  Best’s Disease -- Molecular and Clinical Findings.  WB Saunders Company.  1998. 

Lugtu J, Greenwald M, Wiles C, Stone E.  Clinical and Genetic Linkage of an autosomal dominant congenital cataract.  Investigative Ophthalmology & Visual Science.  1998. 39-Suppl:1957.

Milla E, Héon E, Piguet B, Grounauer P, Ducrey N, Butler N, Stone E, Buchi E, Schorderet D, Munier F.  Clinical features of RHO C110Y Mutation in a Family with Autosomal Dominant Retinitis Pigmentosa.  Investigative Ophthalmology & Visual Science.  1998. 39-Suppl:1368.

Fingert J, Yiong L, Swiderski R, Arbour N, Nystuen A, Alward W, Sheffield V.  Comparison and Characterization of the Human GLC1A Glaucoma Gene and its Mouse Orthologue.  Investigative Ophthalmology & Visual Science.  1998. 39-Suppl:2342.

Scott D, Kraft M, Stone E, Sheffield V, Smith R.  Connexin mutations and hearing loss.  Nature.  1998. 391(6662):32.

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

McInnes R, Freund C, Chen S, Wang O, Ploder L, Jacobson S, Zack D, Stone E.  DeNovo Mutations in the CRX Homebox Gene Associated with Leber's Congenital Amaurosis (LCA).  Experimental Eye Research.  1998. 67-Suppl 1:S28.

Craig J, Snibson G, Alward W, Mackey D, McNaught A, Rait J, Coote M, McCartney P, Schiller G, Stone E, Sheffield V.  Exclusion of GLC1A Coding Region Mutations as a Common Cause of Steroid-induced Ocular Hypertension.  Investigative Ophthalmology & Visual Science.  1998. 39-Suppl:3153.

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

Clark A, Steely H, Dickerson J, English-Wright S, Fingert J, Stone E.  Expression of GLC1A (Myocilin, TIGR) in the Trabecular Meshwork.  Investigative Ophthalmology & Visual Science.  1998. 39-Suppl:2022.

Swiderski R, Ying L, Alward W, Stone E, Sheffield V.  Expression Pattern and In Situ Localization of the Mouse Homologue of the Human GLC1A Gene.  The American Journal of Human Genetics.  1998. 63-Suppl:1111.

Nishimura D, Alward W, Searby C, Swiderski R, Bennett S, Kalenak J, Patil S, Stone E, Sheffield V.  Glaucoma Phenotypes Caused by Mutations in the FKHL7 Transcription Factor Gene and Implications of this Gene in Cardiac Development.  The American Journal of Human Genetics.  1998. 63-Suppl:2186.

Wang Q, Swain P, Chen S, Affatigato L, Coats C, Brady K, Fishman G, Jacobson S, Zack D, Stone E, Sieving P, Swaroop A.  Mutations in CRX are Associated with Cone-Rod Dystrophy.  Investigative Ophthalmology & Visual Science.  1998. 39-Suppl:4154.

Ghiasvand N, Kanis A, Helms C, Stone E, Sheffield V, Donis-Keller H.  Nonsyndromal Congenital Retinal Nonattachment Gene Maps to 10q21.  The American Journal of Human Genetics.  1998. 63-Suppl:1676.

Mackey D, Craig J, McNaught A, Wilkinson C, Healey D, Rait J, Coote M, Wong T, McCartney P, John A, Dickenson J, Stone E, Sheffield V.  Predictive DNA Testing for Glaucoma with the GLC1A Gene: Experience with a Large Australian Family.  Investigative Ophthalmology & Visual Science.  1998. 39-Suppl:130.

Nichols B, Butler N, Sheffield V, Stone E.  Prevalence Of Mitochondrial Nt3243 Mutation in Non-Syndromic Pattern Dystrophy.  Investigative Ophthalmology & Visual Science.  1998. 39-Suppl:2367.

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

Fingert J, Sheffield V, Stone E.  The Molecular Genetics of Macular Degeneration.  Experimental Eye Research.  1998. 67-Suppl 1:S101.

Alward W, Semina E, Kalenak J, Héon E, Sheth B, Stone E, Murray J.  Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.  Am J Ophthalmol.  1998 January. 125(1):98-100.
[Link]

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

Weleber R, Butler N, Murphey W, Sheffield V, Stone E.  X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR.  Arch Ophthalmol.  1997 November. 115(11):1429-35.
[Link]

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

Arbour N, Zlotogora J, Knowlton R, Merin S, Rosenmann A, Kanis A, Rokhlina T, Stone E, Sheffield V.  Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling.  Hum Mol Genet.  1997 May. 6(5):689-94.
[Link]

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

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

Fishman G, Stone E, Alexander K, Gilbert L, Derlacki D, Butler N.  Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy.  Ophthalmology.  1997 February. 104(2):299-306.
[Link]

Nystuen A, Costeff H, Bonne-Tamir B, Haider N, Mohrenweiser H, Stone E, Sheffield V.  A Syndrome Involving Optic Atrophy Demonstrates Linkage Disequilibrium with the CTG Repeat in the 3’ Untranslated Region of the Myotonic Dystrophy Protein Kinase Gene.  Investigative Ophthalmology & Visual Science.  1997. 38-Suppl:1822.

Kanis A, Love T, Nishimura D, Stone E, Sheffield V.  An Efficient Method for Evaluating fhe Prevalence of Single Base Polymorphism/Mutations in Control or Test Populations Using ARMS.  American Journal of Human Genetics.  1997. 61-Suppl:1285.

Nishimura D, Alward W, Beck G, Hockey R, Patil S, Stone E, Sheffield V.  Characterization of 6p25 Chromosomal Congenital Glaucoma.  American Journal of Human Genetics.  1997. 61-Suppl:103.

Fingert J, Clark T, Beck G, Hockey R, Alward W, Sheffield V, Stone E.  Characterization of the Glaucoma Phenotypes Associated with Two Mutations in the GLC1A Gene.  American Journal of Human Genetics.  1997. 61-Suppl:102.

Brown Jr J, Nichols B, Wiles C, Butler N, Sheffield V, Stone E.  Clinical Characterization and Linkage Analysis of a Four Generation Family with Cone-Rod Dystrophy.  Investigative Ophthalmology & Visual Science.  1997. 38-Suppl:5339.

Sonkin P, Brown J, Folk J, Taylor C, Affatigato L, Sheffield V, Stone E.  Clinical Characterization of a Second Family with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV) and Fine Mapping of the Disease Interval.  Investigative Ophthalmology & Visual Science.  1997. 38-Suppl:3697.

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

Arbour N, Zlotogora J, Knowlton R, Merin S, Rokhlina T, Stone E, Sheffield V.  Homozygosity Mapping of Achromatopsia to Chromosome 2p11 Using DNA Pooling.  Investigative Ophthalmology & Visual Science.  1997. 38-Suppl:3295.

Walder R, Shalev H, Carmi R, Elbedour K, Hanauer A, Patil S, Brennan T, Scott D, Mark A, Stone E, Sheffield V.  Hypomagnesemia with Secondary Hypocalcemia (HSH): Narrowing the Disease Region on Chromosome 9 and Mapping the Breakpoint in a HSH Affected Female with Balanced X;9 Translocation.  American Journal of Human Genetics.  1997. 61-Suppl:1747.

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

Fingert J, Alward W, Sunden S, Nishimura D, Nystuen A, Nichols B, Mackey D, Ritch R, Kalenak J, Craven E, Beck G, Streb L, Sheffield V, Stone E.  Identification of the Gene Causing 1q-Linked Juvenile Onset Open Angle Glaucoma (GLC1A) and Evidence for Its Involvement in Adult Primary Open Angle Glaucoma.  Investigative Ophthalmology & Visual Science.  1997. 38-Suppl:4333.

Kuehn M, Stone E, Hageman G.  Molecular Analyses of IPM 150, A Photoreceptor Cell-Specific Proteoglycan.  Investigative Ophthalmology & Visual Science.  1997. 38-Suppl:2788.

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

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

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

Nystuen A, Benke P, Mohrenweiser H, Burmeister M, Stone E, Sheffield V.  Physical Transcript and Genetic Map of the Cayman Cerebellar Ataxia Region on Chromosome 19p13.3.  American Journal of Human Genetics.  1997. 61-Suppl:1682.

Arbour N, Ziotogora J, Stone E, Sheffield V.  Refined Genetic Mapping on Chromosome 2q11-q12.  American Journal of Human Genetics.  1997. 61-Suppl:1547.

Alward W, Fingert J, Johnson A, Kwon Y, Hayreh S, Love T, Vandenburgh K, Sheffield V, Stone E.  The Phenotype of Primary Open Angle Glaucoma Patients with Mutations in the GLC1A Gene.  Investigative Ophthalmology & Visual Science.  1997. 38-Suppl:4335.

Wilkinson C, Wong T, Devereux C, Storey I, McCartney P, Cooper R, Mackey D, Stone E, Sheffield V, Coote M.  Tonography in a Primary Open Angle Glaucoma (POAG) Pedigree Linking to GLC1A.  Investigative Ophthalmology & Visual Science.  1997. 38-Suppl:4922.

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

Zhang Z, Zimonjic D, Popescu N, Wang N, Gerhard D, Stone E, Arbour N, De Vries H, Scheffer H, Gerritsen J, Colle'e J, Ten Kate L, Mukherjee A.  Human uteroglobin gene: structure, subchromosomal localization, and polymorphism.  DNA Cell Biol.  1997 January. 16(1):73-83.
[Link]

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

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

Sunden S, Alward W, Nichols B, Rokhlina T, Nystuen A, Stone E, Sheffield V.  Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genes.  Genome Res.  1996 September. 6(9):862-9.
[Link]

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

Kuntz C, Jacobson S, Cideciyan A, Li Z, Stone E, Possin D, Milam A.  Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration.  Invest Ophthalmol Vis Sci.  1996 August. 37(9):1772-82.
[Link]

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

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

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

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

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

Nystuen A, Benke P, Merren J, Stone E, Sheffield V.  A Genetic Locus Associated with Nystagmus and Strabismus Identified by Pooling of DNA from an Isolated Cayman Island Population.  Investigative Ophthalmology & Visual Science.  1996. 37-Suppl:3031.

Jacobson S, Cideciyan A, Kuntz C, Li Z, Sheffield V, Stone E, Milan A.  A Late Onset Autosomal Dominant Retinal Degeneration with Sub-Retinal Pigment Epithelial Deposits.  Investigative Ophthalmology & Visual Science.  1996. 37-Suppl:2282.

Kantor A, Sutphin J, Stone E, Folberg R, Mathers W.  Acanthamoeba Keratitis: Epidemiology, Detection and Treatment Results of a Large Series.  Investigative Ophthalmology & Visual Science.  1996. 37-Suppl:3211.

Héon E, Piguet B, Munier F, Sneed S, Morgan C, Forni S, Schorderet D, Polk T, Taylor C, Streb L, Wiles C, Sheffield V, Stone E.  Clinical and Haplotypic Characterization of 14 Families Affected with Radial Drusen (Malattia Leventinese).  Investigative Ophthalmology & Visual Science.  1996. 37-Suppl:5163.

Lam B, Fingert J, Schutte B, Singleton E, Merin L, Sheffield V, Stone E.  Clinical and Molecular Characterization of a Family Affected with X-Linked Ocular Albinism.  Investigative Ophthalmology & Visual Science.  1996. 37-Suppl:512.

Wagoner M, Stone E, Sheffield V, Jabak M, Karcioglu Z.  Clinical Features of Chromosome 16-Linked Macular Corneal Dystrophy.  Ophthalmology.  1996. 103(9A):143.

Kwitek-Black A, Krizman D, Carmi R, Doggett N, Stone E, Sheffield V.  Fine-Mapping of Bardet-Biedl Syndrome Locus on Chromosome 16.  Investigative Ophthalmology & Visual Science.  1996. 37-Suppl:5160.

Haider N, Kwitek-Black A, Iannaccone A, Carmi R, Elbedour K, Nishimura D, Stone E, Sheffield V.  Genetic and Physical Fine Mapping of the Chromosome 15 Bardet-Biedl Syndrome (BBS4) Locus.  American Journal of Human Genetics.  1996. 59-Suppl:1261.

Kwitek-Black A, Doggett N, Carmi R, Goodwin L, Charlat O, Stone E, Sheffield V.  Genetic and Physical Fine-Mapping of the Locus Causing Bardet-Biedl Syndrome in an Inbred Bedouin.  Cytogenetics and Cell Genetics.  1996. 72(4):291.

Scott D, Carmi R, Yosefsberg S, Stone E, Sheffield V.  Genetic and Physical Mapping of an Autosomal Recessive Non-Syndromic-Hearing-Loss Locus Identified by DNA Pooling Using Two Inbred Bedouin Kindreds.  American Journal of Human Genetics.  1996. 59-Suppl:1357.

Stone E, Sheffield V.  Genetic Approaches to Human Retinal Disorders.  Investigative Ophthalmology & Visual Science.  1996. 37-Suppl:3100.

Johnson A, Alward W, Sheffield V, Stone E.  Genetics and Glaucoma.  CV Mosby, St Louis, MO.  1996. 1(39-54).

Sheffield V, Sunden S, Alward W, Rohklina T, Nichols B, Stone E.  High-Density Mapping of the Juvenile Open Angle Glaucoma Region.  Investigative Ophthalmology & Visual Science.  1996. 37-Suppl:2078.

Walder R, Carmi R, Brennan T, Scott D, Shaley H, Stone E, Sheffield V.  Hypomagnesemia, An Autosomal Recessive Disease in Three Inbred Bedouin Kindred From Israel: Linkage of the Disease Loci to Chromosome 9q.  American Journal of Human Genetics.  1996. 59-Suppl:1385.

Nystuen A, Benke P, Merren J, Mohrenweiser H, Stone E, Sheffield V.  Identification and Genetic Fine Mapping of a Cerebellar Ataxia Locus in an Isolated Population from the Cayman Islands.  American Journal of Human Genetics.  1996. 59-Suppl:1324.

Arbour N, Zlotogora J, Knowlton R, Rokhlina T, Stone E, Sheffield V.  Linkage of Achromatopsia (Total Color Blindness) to Chromosome 2p11 Using DNA Pooling.  American Journal of Human Genetics.  1996. 59-Suppl:1205.

Alward W, Johnson A, Nishimura D, Sheffield V, Stone E.  Molecular genetics of glaucoma: current status.  Journal of Glaucoma.  1996. 5(4):276-284.

Sunden S, Alward W, Nichols B, Rokhlina T, Nystuen A, Fingert J, Stone E, Sheffield V.  Narrowing the GLC1A Critical Region Using a Late-Onset Autosomal Dominant Open Angle Glaucoma Family.  American Journal of Human Genetics.  1996. 59-Suppl:1369.

Aleman T, Stone E, Hernandez R, Jacobson S, Moreno N, Caballero O.  Ophthalmologic Findings in a Retinitis Pigmentosa Family with Rhodopsin Mutation ASP-190-ASN.  Investigative Ophthalmology & Visual Science.  1996. 37-Suppl:3064.

Iannaccone A, Cideciyan A, Sheffield V, Stone E, Jacobson S.  Phenotype of Chromosome 8-Linked Autosomal Dominant Retinitis Pigmentosa.  Investigative Ophthalmology & Visual Science.  1996. 37-Suppl:1586.

Cideciyan A, Hood D, Regunath G, Sheffield V, Stone E, Nathans J, Jacobson S.  Post-Receptoral Rod and Cone Abnormalities in Retinitis Pigmentosa Caused by Rhodopsin Gene Mutations.  Investigative Ophthalmology & Visual Science.  1996. 37-Suppl:2284.

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

Fingert J, Brown Jr J, Taylor C, Butler N, Lake M, Sheffield V, Stone E.  Refinement of the Dominant Optic Atrophy Locus (3q) and Clinical Characterization of a Large Family.  Investigative Ophthalmology & Visual Science.  1996. 37-Suppl:3026.

Nishimura D, Pierpont M, Beck J, Burns T, Berg M, Stone E, Lauer R, Sheffield V.  The Use of Novel Strategy for Genome-Wide Linkage Studies to Identify a Susceptibility Locus for a Complex Congenital Heart Defect.  American Journal of Human Genetics.  1996. 59-Suppl:221.

Sheffield V, Nystuen A, Benke P, Stone E.  Use of Isolated Populations, A DNA Pooling Strategy, and Linkage Disequilibrium to Map Genetic Disease Loci.  Cold Spring Harbor.  1996. 

Regunath G, Cideciyan A, Sheffield V, Stone E, Jacobson S.  Vitamin A Increases Pericentral Visual Function in Patients with Macular Degeneration Due to Sorsby’s Fundus Dystrophy and a TIMP-3 Gene Mutation.  Investigative Ophthalmology & Visual Science.  1996. 37-Suppl:2288.

Carmi R, Elbedour K, Stone E, Sheffield V.  Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.  Am J Med Genet.  1995 November 6. 59(2):199-203.
[Link]

Bascom R, Liu L, Heckenlively J, Stone E, McInnes R.  Mutation analysis of the ROM1 gene in retinitis pigmentosa.  Hum Mol Genet.  1995 October. 4(10):1895-902.
[Link]

Jacobson S, Cideciyan A, Regunath G, Rodriguez F, Vandenburgh K, Sheffield V, Stone E.  Night blindness in Sorsby's fundus dystrophy reversed by vitamin A.  Nat Genet.  1995 September. 11(1):27-32.
[Link]

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

Sheffield V, Nishimura D, Stone E.  Novel approaches to linkage mapping.  Curr Opin Genet Dev.  1995 June. 5(3):335-41.
[Link]

Héon E, Mathers W, Alward W, Weisenthal R, Sunden S, Fishbaugh J, Taylor C, Krachmer J, Sheffield V, Stone E.  Linkage of posterior polymorphous corneal dystrophy to 20q11.  Hum Mol Genet.  1995 March. 4(3):485-8.
[Link]

Gorin M, Jackson K, Ferrell R, Sheffield V, Jacobson S, Gass J, Mitchell E, Stone E.  A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.  Ophthalmology.  1995 February. 102(2):246-55.
[Link]

Sheth B, Héon E, Kalenak K, Taylor C, Streb L, Alward W, Stone E, Sheffield V.  Clinical and Molecular Evaluation of a Large Family with Iris Hypoplasia and Glaucoma.  Investigative Ophthalmology & Visual Science.  1995. 36-Suppl:2576.

Koenekoop R, Sunness J, Fingert J, Stone E, Maumenee I.  Dominant Bull’s Eye Maculopathy: Clinical, Physiological and Molecular Analysis of a Family.  Investigative Ophthalmology & Visual Science.  1995. 36-Suppl:4257.

Sheffield V, Kwitek-Black A, Nishimura D, Carmi R, Sunden S, Stone E.  Evaluation of an Efficient Approach to Disease Gene Mapping: Application to Bardet-Biedl Syndrome.  Investigative Ophthalmology & Visual Science.  1995. 36-Suppl:3579.

Nishimura D, Patil S, Alward W, Stone E, Sheffield V.  Fine Mapping of the Chromosomal Breakpoints in an Individual with Congenital Glaucoma and a 6:13 Translocation.  Investigative Ophthalmology & Visual Science.  1995. 36-Suppl:2574.

Kwitek-Black A, Haider N, Carmi R, Doggett N, Charlat O, Nishimura D, Stone E, Sheffield V.  Genetic and Physical Fine-Mapping of the Heterogeneous Bardet-Biedl Syndrome.  American Journal of Human Genetics.  1995. 57-Suppl:294.

Sunden S, Héon E, Kwitek-Black A, Green J, Parfrey P, Musarella M, Nishimura D, Harnett J, Efferton D, Stone E, Sheffield V.  Genetic Heterogeneity in 23 Canadian Bardet-Biedl Families and Evidence for a Fifth BBS Locus.  Investigative Ophthalmology & Visual Science.  1995. 36-Suppl:3582.

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

Stone E.  Heritable disorders of RPE, Bruchs’ membrane, and the choriocapillaris.  Mosby, St Louis, MO.  1995. 

Comier A, Fulton A, Rokhlina T, Nishimura D, Stone E, Sheffield V, Whiteman D, Cox G.  Homozygosity Mapping of a Bardet-Biedl Syndrome Gene in Inbred Families of Puerto Rican Ancestry Confirms the Existence of a Chromosome 11 Locus.  American Journal of Human Genetics.  1995. 57-Suppl:1086.

Baehr W, Subbaraya I, Dang Y, Ruiz C, Helekar B, Banerjee P, Knowles J, Gilliam T, Vandenburgh K, Stone E.  Human and Mouse GCAP Genes and Involvement of GCAP Gene Mutations in Human Disease.  Investigative Ophthalmology & Visual Science.  1995. 36-Suppl:3820.

Nishimura D, Soares M, De Fatima Bonaldo M, Nishimura C, Mattes G, Morrison B, Stone E, Sheffield V.  Isolation and Characterization of Genes from Human Neural Retina.  American Journal of Human Genetics.  1995. 57-Suppl:1143.

Héon E, Mathers W, Alward W, Weisenthal R, Sunden S, Fishbaugh J, Taylor C, Krachmer J, Sheffield V, Stone E.  Linkage Analysis of Posterior Polymorphous Corneal Dystrophy and Assessment of Genetic Heterogeneity.  Investigative Ophthalmology & Visual Science.  1995. 36-Suppl:3561.

Héon E, Sheth B, Kalenak J, Sunden S, Streb L, Taylor C, Munden P, Alward W, Sheffield V, Stone E.  Linkage of Autosomal Dominant Iris Hypoplasia to the Rieger Syndrome Locus (4q25).  American Journal of Human Genetics.  1995. 57-Suppl:1108.

Munier F, Piguet B, Héon E, Pescia G, Sheffield V, Schorderet D, Stone E.  Malattia Levantinese: Exclusion of Known Disease Causing Genes Associated With Macular Dystrophies.  American Journal of Human Genetics.  1995. 57-Suppl:1931.

Alward W, Nishimura D, Patil S, Stone E, Sheffield V.  Molecular Characterization of Chromosomal Anomalies in Two Patients Indicate That a Gene Causing Congenital Glaucoma Maps to a 5 cm Region of 6p25.  American Journal of Human Genetics.  1995. 57-Suppl:1482.

Stone E, Wood J, Butler N, Wiles C.  No Evidence for a Causal Relationship Between a Mitochondrial Polymorphism at Position 15257 and Macular Disease.  Investigative Ophthalmology & Visual Science.  1995. 36-Suppl:4900.

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

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

Drack A, Stone E.  Patterns of retinal disease in children.  Mosby, St Louis, MO.  1995. 

 .  Pediatric Ophthalmology and Strabismus.  Mosbey, St Louis, MO;  1995.

Cideciyan A, Jacobson S, Kemp C, Azevedo D, Regunath G, Sheffield V, Stone E.  Photoreceptor Function in Patients with Heterozygous Peripherin/RDS Gene Mutations and ROM-1 Gene Mutations.  Investigative Ophthalmology & Visual Science.  1995. 36-Suppl:4196.

Sunden S, Nichols B, Alward W, Nishimura D, Stone E, Sheffield V.  Physical and Genetic Fine Mapping of the Juvenile Open Angle Glaucoma Region (1q21-q31).  American Journal of Human Genetics.  1995. 57-Suppl:1174.

Kanis A, Mathers W, Holland E, Rosenwasser G, Rosa N, Kim W, Proud V, Lam B, Sheffield V, Stone E.  Pooling Strategies and Haplotype Analysis of Autosomal Dominant Corneal Dystrophies: Studies in Lattice, Granular and Avellino dystrophies.  Investigative Ophthalmology & Visual Science.  1995. 36-Suppl:3560.

Kimura A, Drack A, Stone E.  Retinitis Pigmentosa and Associated Disorders.  Mosby, St Louis, MO.  1995. 

Brown J, Weleber R, Kimura A, Vandenburgh K, Sheffield V, Stone E.  Three Families Affected with a Rapidly Progressive Severe Form of Autosomal Dominant Retinitis Pigmentosa Associated with Mutations in Codon 347 of the Rhodopsin Gene (Pro-347-Ala and Pro-347-Gla).  Investigative Ophthalmology & Visual Science.  1995. 36-Suppl:3814.

Kanis A, Beck J, Rokhlina T, Tchida C, Stone E, Sheffield V.  Use of DNA Pooling Strategies for Mapping Dominant Disorders and the Potential Application to Mapping Complex Diseases.  American Journal of Human Genetics.  1995. 57-Suppl:1119.

Jacobson S, Cideciyan A, Bascom R, McInnes R, Sheffield V, Stone E.  Variable Expression of Retinitis Pigmentosa in Patients with Digenic Inheritance of Peripherin/RDS and ROM-1 Gene Mutations.  Investigative Ophthalmology & Visual Science.  1995. 36-Suppl:4195.

Piguet B, Munier F, Héon E, Pescia G, Schorderet D, Stone E.  Zermatt Macular Dystrophy – A New Autosomal-Dominant Phenotype and Exclusion of Known Macular Genes.  Vision Research.  1995. 

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

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

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

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

Folberg R, Stone E, Sheffield V, Mathers W.  The relationship between granular, lattice type 1, and Avellino corneal dystrophies. A histopathologic study.  Arch Ophthalmol.  1994 August. 112(8):1080-5.
[Link]

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

Brown D, Kimura A, Weingeist T, Stone E.  Erosive vitreoretinopathy. A new clinical entity.  Ophthalmology.  1994 April. 101(4):694-704.
[Link]

Kwitek-Black A, Carmi R, Duyk G, Rokhlina T, Charlat O, Nishimura D, Sunden S, Callen D, Stone E, Sheffield V.  Bardet-Biedl Syndrome: Mapping of a New Locus to Chromosome 3 and Fine-Mapping of the Chromosome 16 Linked Locus.  American Journal of Human Genetics.  1994. 55-Suppl:1112.

Feist R, White Jr M, Skalka H, Stone E.  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.  1994. 118(2):259-260.

Fishman G, Stone E, Gilbert L, Vandenburgh K, Sheffield V, Heckenlively J.  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.  1994. 101(8):1409-1421.

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

Sunden S, Stone E, Beck J, Duyk G, Murray J, Weber J, Buetow K, Sheffield V.  Development of Tri- and Tetra-Nucleotide Repeat Marker Screening Sets for Efficient Linkage Mapping of Hereditary Eye Diseases.  Investigative Ophthalmology & Visual Science.  1994. 35-Suppl:272.

Sheffield V, Kwitek-Black A, Carmi R, Nichols B, Rokhlina T, Buetow K, Duyk G, Stone E.  Evaluation of an Efficient Approach for Identifying Genetic Disease Loci.  American Journal of Human Genetics.  1994. 55-Suppl:266.

Sunden S, Nichols B, Alward W, Raymond M, Ludwigsen S, Stone E, Sheffield V.  Exclusion of Candidate Genes from the Chromosome 1q Juvenile Glaucoma Region and Mapping of the Peripheral Cannabis Receptor Gene (CNR2) to Chromosome 1.  American Journal of Human Genetics.  1994. 55-Suppl:1190.

Nichols B, Alward W, Ritch R, Streb L, Taylor C, Sunden S, Sheffield V, Stone E.  Fine Mapping of the Primary Open Angle Glaucoma Locus on Chromosome 1.  Investigative Ophthalmology & Visual Science.  1994. 35-Suppl:1009.

Stone E, Nichols B, Kimura A, Weingeist T, Drack A, Sheffield V.  Genetic Linkage of a Stargardt-Like Dominant Progressive Macular Dystrophy to Chromosome 6.  Investigative Ophthalmology & Visual Science.  1994. 35-Suppl:2160.

Sheffield V, Kwitek-Black A, Carmi R, Duyk G, Rokhlina T, Stone E.  Homozygosity Mapping of the Gene for Bardet-Biedl Syndrome in Large Inbred Families.  Investigative Ophthalmology & Visual Science.  1994. 35-Suppl:2164.

Brown D, Vandenburgh K, Nichols B, Kimura A, Weingeist T, Sheffield V, Stone E.  Incidence of Frameshift Mutations in the Procollagen II Gene in Stickler Syndrome and Identification of Four New Mutations.  Investigative Ophthalmology & Visual Science.  1994. 35-Suppl:2159.

Héon E, Sheth B, Kalenak J, Taylor C, Alward W, Sheffield V, Stone E.  Linkage Analysis Excludes the Glaucoma Locus on 1q from Involvement in Autosomal Dominant Glaucoma with Iris Hypoplasia.  American Journal of Human Genetics.  1994. 55-Suppl:2043.

McGeorge A, Curtis M, Brown D, Stone E.  Long Term Visual Outcome of Patients with Von Hippel-Lindau Syndrome.  Investigative Ophthalmology & Visual Science.  1994. 35-Suppl:3640.

Sheffield V, Kwitek-Black A, Carmi T, Rokhlina T, Nishimura D, Sunden S, Duyk G, Buetow K, Stone E.  Mapping of Rare Recessive Disease Loci Using Isolated Inbred Populations.  1994. 

Nishimura D, Patil S, Alward W, Stone E, Sheffield V.  Mapping the Breakpoints of an Individual with Congenital Glaucoma and a 6:13 Translocation.  American Journal of Human Genetics.  1994. 55-Suppl:1150.

Bascom R, Liu L, Heckenlively J, Sheffield V, Stone E, McInnes R.  Putative Disease - Causing ROM1 Mutations in Typical and Atypical Retinitis Pigmentosa Patients.  Experimental Eye Research.  1994. 59-Suppl 1:S6.

Rokhlina T, McClain A, Mattes G, Sunden S, Nichols B, Duyk G, Stone E, Sheffield V.  Rapid Genome-wide Linkage Analysis Using a Set of Tri and Tetranucleotide Repeat Markers and Automated Silver Staining.  American Journal of Human Genetics.  1994. 55-Suppl:1173.

Kemp C, Jacobson S, Cideciyan A, Kimura A, Sheffield V, Stone E.  RDS Gene Mutations Causing Either Macular Degeneration or Retinitis Pigmentosa Lead to Similar Abnormalities of Dark Adaptation.  Investigative Ophthalmology & Visual Science.  1994. 35-Suppl:1041.

Jacobson S, Kemp C, Cideciyan A, Sun X, Vandenburgh K, Sheffield V, Stone E.  Spectrum of Functional Phenotypes in RDS Gene Mutations.  Investigative Ophthalmology & Visual Science.  1994. 35-Suppl:1044.

Stone E, Sheffield V.  The Molecular Genetic Approach to Macular Degeneration.  Harwood Academic Publishers, Chur, Switzerland.  1994. 2:173-195.

Folberg R, Stone E, Mathers W, Sheffield V.  The Relationship Between Granular, Lattice Type 1, and Avellino Corneal Dystrophies.  Investigative Ophthalmology & Visual Science.  1994. 35-Suppl:1447.

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

Stone E, Mathers W, Rosenwasser G, Holland E, Folberg R, Krachmer J, Nichols B, Gorevic P, Taylor C, Streb L.  Three autosomal dominant corneal dystrophies map to chromosome 5q.  Nat Genet.  1994 January. 6(1):47-51.
[Link]

Nichols B, Sheffield V, Stone E.  A user-friendly Hypercard interface for human linkage analysis.  Comput Appl Biosci.  1993 December. 9(6):757-9.
[Link]

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

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

Emery M, Siegfried E, Stone M, Stone E, Patil S.  Incontinentia pigmenti: transmission from father to daughter.  J Am Acad Dermatol.  1993 August. 29(2 Pt 2):368-72.
[Link]

Sheffield V, Beck J, Kwitek A, Sandstrom D, Stone E.  The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions.  Genomics.  1993 May. 16(2):325-32.
[Link]

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

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

Drack A, Kimura A, Keech R, Stone E.  Clinical Characterization and Molecular Genetic Studies of Autosomal Recessive Congenital Stationary Night Blindness with Myopia.  Investigative Ophthalmology & Visual Science.  1993. 34-Suppl:2189.

Johnson A, Lichter P, Richards J, Alward W, Sheffield V, Stone E.  Clinical Comparison of Two Families with Autosomal-Dominant Juvenile-onset Open Angle Glaucoma Linked to Chromosome 1q.  American Journal of Human Genetics.  1993. 53-Suppl:459.

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

Nichols B, Bascom R, Litt M, McInnes R, Taylor C, Sheffield V, Stone E.  Fine Mapping of the Best’s Disease Locus and Mutation Analysis of the Candidate Gene ROM1.  American Journal of Human Genetics.  1993. 53-Suppl:1050.

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

Sheffield V, Nichols B, Alward W, Drack A, Johnson A, Streb L, Stone E.  Genetic Mapping of Familial Open Angle Glaucoma to Chromosome 1q21-q31 and Analysis of Candidate Genes.  American Journal of Human Genetics.  1993. 53-Suppl:1075.

Kwitek-Black A, Carmi R, Duyk G, Buetow K, Stone E, Sheffield V.  Genetic Mapping of the Gene for Bardet-Biedl Syndrome to 16q21 in a Large Inbred Pedigree.  American Journal of Human Genetics.  1993. 53-Suppl:139.

Brown D, Vandenburgh K, Nichols B, Arhart A, Kimura A, Weingeist T, Sheffield V, Stone E.  Genetic Mutations at the C-terminal End of the Procollagen II Gene in Stickler Syndrome (Hereditary Arthro-Ophthalmopathy) and Identification and Phenotypic Description of a New Mutation.  American Journal of Human Genetics.  1993. 53-Suppl:1133.

Stone E, Vandenburgh K, Nichols B, Sheffield V.  Identification of rhodopsin gene mutations using GC-clamped denaturing gradient gel electrophoresis.  Academic Press, Orlando, FL.  1993. 

Stone E, Nichols B, Kimura A, Weleber R, Gorin M, Fishman G, Jacobson S, Gass J, Drack A, Vandenburgh K, Sheffield V.  Mutation in the RDS/Peripherin Gene Cause Widely Different Phenotypes Between and Within Affected Families.  American Journal of Human Genetics.  1993. 53-Suppl:14.

NIchols B, Kimura A, Streb L, Sheffield V, Stone E.  Mutations in the RDS Gene are Associated with Butterfly-Shaped Pigment Dystrophy of the Fovea.  Investigative Ophthalmology & Visual Science.  1993. 34-Suppl:2194.

Stone E, Nichols B, Wolken M, Montague P, Thompson H.  New normative data for the Farnsworth-Munsell 100-hue test.  Kluwer Academic Publishers.  1993. 56:303-320.

Stone E, Vandenburgh K, Kimura A, Lam B, Fishman G, Heckenlively J, Castillo T, Sheffield V.  Novel Mutations in the Peripherin (RDS) and Rhodopsin Genes Associated with Autosomal Dominant Retinitis Pigmentosa (ADRP).  Investigative Ophthalmology & Visual Science.  1993. 34-Suppl:2196.

Weleber R, Carr R, Murphey W, Sheffield V, Stone E.  Pattern Macular Dystrophy, Retinitis Pigmentosa, and Fundus Flavimaculatus/Stargardt Dystrophy from Deletion of Codon 154 of the Peripherin/RDS Gene.  American Journal of Human Genetics.  1993. 53-Suppl:115.

Jackson K, Mitchell E, Stone E, Ferrell R, Gorin M.  The Identification of an Exon-2 Peripherin Mutation in a Family with Heterogeneous Manifestations of a Butterfly Pattern Macular Dystrophy.  American Journal of Human Genetics.  1993. 53-Suppl:1177.

Stone E, Kimura A, Folk J, Bennett S, Nichols B, Streb L, Sheffield V.  Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13.  Hum Mol Genet.  1992 December. 1(9):685-9.
[Link]

Fishman G, Vandenburgh K, Stone E, Gilbert L, Alexander K, Sheffield V.  Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa.  Arch Ophthalmol.  1992 November. 110(11):1582-8.
[Link]

Brown D, Nichols B, Weingeist T, Sheffield V, Kimura A, Stone E.  Procollagen II gene mutation in Stickler syndrome.  Arch Ophthalmol.  1992 November. 110(11):1589-93.
[Link]

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

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

Fishman G, Stone E, Gilbert L, Sheffield V.  Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa.  Arch Ophthalmol.  1992 May. 110(5):646-53.
[Link]

Sheffield V, Beck J, Nichols B, Cousineau A, Lidral A, Stone E.  Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis.  Am J Hum Genet.  1992 March. 50(3):567-75.
[Link]

Stone E, Newman N, Miller N, Johns D, Lott M, Wallace D.  Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation.  J Clin Neuroophthalmol.  1992 March. 12(1):10-4.
[Link]

Mack R, Alward W, Vockrodt L, Taylor C, Stone E.  A Patient With Open Angle Glaucoma and a Heteroplasmic Mutation At Position 3460 of the Mitochondrial DNA.  Investigative Ophthalmology & Visual Science.  1992. 33-Suppl:1923.

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

Beck J, Kwitek A, Sandstrom D, Stone E, Sheffield V.  Analysis of the Sensitivity of Single Base Substitution Detection by SSCP.  American Journal of Human Genetics.  1992. 51-Suppl:A208.

Lehmer J, Heckenlively J, Stone E, Kimura A, Blanton S, Daiger S.  Clinical Characterization of Chromosome 8 Autosomal Dominant Retinitis Pigmentosa (UCLA-RP01).  Investigative Ophthalmology & Visual Science.  1992. 33-Suppl:3522.

Brown D, Weingeist T, Kimura A, Stone E.  Erosive vitreoretinopathy - a new clinical entity.  Ophthalmology.  1992. 99(9A).

Brown D, Weingeist T, Kimura A, Stone E.  Erosive vitreoretinopathy - a new clinical entity.  Opthalmology.  1992. 99(9A).

Coppinger J, Nichols B, Streb L, Mack R, Sheffield V, Stone E.  Identification of Mitochondrial Gene Mutations Associated with Leber’s Hereditary Optic Neuropathy by GC-Clamped Denaturing Gradient Gel Electrophoresis.  Investigative Ophthalmology & Visual Science.  1992. 33-Suppl:2631.

Sucheski B, Rosenwasser G, Holland E, Daya S, Perry H, Folberg R, Stone E.  Phenotypic Variation in Avellino (Combined Granular/Lattice) Corneal Dystrophy.  Investigative Ophthalmology & Visual Science.  1992. 33-Suppl:396.

Sheffield V, Kimura A, Folk J, Bennett S, Streb L, Nichols B, Stone E.  The Gene for Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Maps to 11q13.  American Journal of Human Genetics.  1992. 51-Suppl:A35.

Stone E, Nichols B, McInnes R, Bascom R, Kimura A, Streb L, Sheffield V.  The Gene for Best’s Disease (Vitelliform Macular Dystrophy) Maps to Chromosome 11q13.  American Journal of Human Genetics.  1992. 51-Suppl:A35.

Sheffield V, Stone E.  The Genes for Two Hereditary Forms of Blindness Map to Chromosome 11q13.  Chromosome 11 Workshop, San Diego, CA.  1992. 

Brown D, Nichols B, Weingeist T, Kimura A, Sheffield V, Stone E.  Type II Procollagen Gene Mutation in Stickler Syndrome.  American Journal of Human Genetics.  1992. 51-Suppl:A301.

Nichols B, Sheffield V, Stone E.  User-Friendly Macintosh Interface for DOS-Based Linkage Analysis.  American Journal of Human Genetics.  1992. 51-Suppl:A369.

Fishman G, Stone E, Sheffield V, Gilbert L, Kimura A.  Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa.  Arch Ophthalmol.  1992 January. 110(1):54-62.
[Link]

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

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

Fishman G, Stone E, Gilbert L, Kenna P, Sheffield V.  Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.  Arch Ophthalmol.  1991 October. 109(10):1387-93.
[Link]

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

Stone E, Khadivi P, Kimura A, Sheffield V.  A Rapid Denaturing Gradient Gel Method of Screening for Rhodopsin Gene Mutations in Patients with Retinitis Pigmentosa.  Investigative Ophthalmology & Visual Science.  1991. 32-Suppl:891.

Wolken M, Nichols B, Vockrodt L, Montague P, Stone E.  An 83 Hue Color Vision Test Has a More Even Error Distribution Than Farnsworth’s 84 Hue Test.  Investigative Ophthalmology & Visual Science.  1991. 32-Suppl:1283.

Johnson A, Stone E, Cameron R, Alward W.  Autosomal Dominant Juvenile Glaucoma in a Six-Generation Family.  Investigative Ophthalmology & Visual Science.  1991. 32-Suppl:813.

Freneaux E, Shires A, Stone E, Rhead W.  Complex I (NADH Dehydrogenase) Activity and Biosynthesis in Fibroblasts and Lymphoblasts from Patients with Leber’s Hereditary Optic Neuropathy (LHON).  American Journal of Human Genetics.  1991. 49-Suppl:513.

Freneaux E, Stone E, Rhead W.  Complex-I (NADH) Dehydrogenase in Fibroblasts and Lymphoblasts from Patients with Leber’s Hereditary Optic Neuropathy (LHON) and Other Mitochondrial Disorders.  Pediatric Research.  1991. 29-Suppl:358.

Neill N, Mack R, Heffron E, Ward W, Stone E.  Fluorescein Angiography in the Dutch Rabbit - Normative Data and Common Artifacts.  Investigative Ophthalmology & Visual Science.  1991. 32-Suppl:866.

Sheffield V, Fishman G, Beck J, Stone E.  Identification of Novel Rhodopsin Mutations Associated with Retinitis Pigmentosa Using GC-Clamped Denaturing Gradient Gel Electrophoresis.  American Journal of Human Genetics.  1991. 49-Suppl:1097.

Cousineau A, Beck J, Stone E, Sheffield V.  Identification of PCR-based DNA Polymorphisms Useful for Linkage Analysis in Candidate Genes and Anonymous DNA Probes Using GC-Clamped Denaturing Gradient Gel Electrophoresis.  American Journal of Human Genetics.  1991. 49-Suppl:2059.

Nichols B, Massicotte S, Slavin M, Folberg R, Stone E.  Light Microscopy of the Eyes of a Patient with Non-Wallace-Type Leber’s Hereditary Optic Neuropathy.  Investigative Ophthalmology & Visual Science.  1991. 32-Suppl:857.

Nichols B, Stone E, Sheffield V.  Mitochondrial DNA Polymorphisms Detected with GC-Clamped Gradient Gel Electrophoresis.  American Journal of Human Genetics.  1991. 49-Suppl:2520.

Smith J, Tse D, Byrne S, Johns D, Stone E.  Optic nerve sheath distention in Leber's optic neuropathy and the significance of the "Wallace mutation".  J Clin Neuroophthalmol.  1990 December. 10(4):231-8.
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Stone E, Coppinger J, Kardon R, Donelson J.  Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy.  Arch Ophthalmol.  1990 October. 108(10):1417-20.
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Bennett S, Folk J, Kimura A, Russell S, Stone E, Raphtis E.  Autosomal dominant neovascular inflammatory vitreoretinopathy.  Ophthalmology.  1990 September. 97(9):1125-35; discussion 1135-6.
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Blodi C, Stone E.  Best's vitelliform dystrophy.  Ophthalmic Paediatr Genet.  1990 March. 11(1):49-59.
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Holland E, Stone E, Folberg R, Dobler A, Cameron J, Doughman D, Weismann B.  Avellino Corneal Dystrophy.  Ophthalmology.  1990. 97(9Suppl):140.

Blodi C, Stone E.  Best's vitelliform dystrophy.  Ophthalmic Paediatrics and Genetics.  1990. 11(1):49-59.

Stone E.  Deletions of the long arm of chromosome 13.  JB Lippincott.  1990. 

Stone E, Schwartz R.  Intervening Sequences in Evolution and Development.  Oxford University Press;  1990.

Stone E, Schwartz R.  Intron dependent evolution of progenotic genes.  Oxford University Press.  1990. 

Coppinger J, Keller C, Slavin M, Donelson J, Stone E.  Mae III and Sfa NI Did Not Detect a Mutation in Human Mitochondrial DNA Responsible for Leber’s Hereditary Optic Neuropathy.  Investigative Ophthalmology & Visual Science.  1990. 31-Suppl:296.

Johnson A, Folberg R, Vrabec M, Florakis G, Stone E, Krachmer J.  The pathology of posterior amorphous corneal dystrophy.  Ophthalmology.  1990 January. 97(1):104-9.
[Link]

Weismann B, Stone E, Weingeist A, Johnson A, Murray J.  A Panel of Fifty DNA Probes Selected to Maximize the Power and Minimize the Cost of Random Chromosome Linkage Analysis of Autosomal Dominant Disorders.  Investigative Ophthalmology & Visual Science.  1989. 30-Suppl:33.

Nichols B, Stone E, Brody J, Johnson A, Raphtis M, Thompson H.  A Single Rack of the Farnsworth Munsell 100 Hue Test is as Sensitive and Specific as the Entire Test for Three Common Optic Nerve Disorders.  Investigative Ophthalmology & Visual Science.  1989. 30 Suppl:244.

Stone E, Perri G, Weingeist A, Johnson A, Wells K, Blodi C, Murray J, Ferrell R, Buetow K.  Chromosome Linkage Analysis of Six Pedigrees Affected with Autosomal Dominant Macular Dystrophies.  Investigative Ophthalmology & Visual Science.  1989. 30-Suppl:33.

Stone E, Folberg R, Weingeist T.  Light And Electron Microscopic Observations Of Two Eyes Affected With Autosomal Dominant Dystrophy Of The Retinal Pigment Epithelium.  Investigative Ophthalmology & Visual Science.  1988. 29-Suppl:288.

Barnes C, Stone E, Brody J, Blodi C.  Loss Of Contrast Sensitivity At High Spatial Frequencies In Nineteen Patients Affected With An Autosomal Dominant Dystrophy Of The Retinal Pigment Epithelium.  Investigative Ophthalmology & Visual Science.  1988. 29-Suppl:315.

Wells K, Stone E, McCarthy M, et al .  Natural History And Range Of Clinical Appearance Of Autosomal Dominant Retinal Pigment Epithelial Dystrophy In Three Iowa Families.  Investigative Ophthalmology & Visual Science.  1988. 29-Suppl:177.

Johnson A, Folberg R, Vrabec M, Stone E, Florakis G, Krachmer J.  Pathology Of Posterior Amorphous Corneal Dystrophy.  Ophthalmology.  1988. 95-Suppl:161.

Stone E, Blodi C.  Autosomal Dominant RPE Dystrophy Variably Expressed As Best’s Vitelliform Dystrophy And Pattern Macular Dystrophy In A 6-Generation Family.  Investigative Ophthalmology & Visual Science.  1987. 28 Suppl:113.

Buetow K, Murray J, Ferrell R, Stone E.  Linkage Heterogeneity In Atypical Vitelliform Macular Dystrophy (VMD-1).  Cytogenetics and Cell Genetics.  1987. 46:588.

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

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

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

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

Schwartz R, Stone E.  Cloning of contractile protein genes.  Cell and Muscle Motility.  1983. 3:195-257.

Reiss N, Stone E, Carroll S, Schwartz R.  Coordinate Regulation of Glycolytic-Enzymes in Chicken Myogenesis.  Journal of Cell Biology.  1983. 97:A50.

Stone E, Rothblum K, Schwartz R.  Organization of the Chicken Glyceradlehyde-3-Phosphate Dehydrogenase Gene.  Journal of Cell Biology.  1983. 97:A136.

Stone E, Schwartz R.  Developmental Expression Of The GAPDH Gene In Fast Twitch Chicken Muscle.  1982. 35:43.

Stone E, Schwartz R.  Regulation of the Chicken GAPDH gene.  Journal of Cell Biology.  1982. 95:367a.

Date Last Modified: 08/22/2014 - 13:44:56