Blodi, C.F., Stone, E.M., Best's vitelliform dystrophy, Ophthalmic Paediatrics and Genetics, (11) 49-59, 1990.
Stone, E.M., Nichols, B.E., Streb, L.M., Kimura A.E., Sheffield, V.C., Genetic Linkage of Vitelliform Macular Degeneration (Best's Disease) to Chromosome 11q13, Nature Genetics, (1) 246-250, 1992.
Nichols, B.E., Bascom, R., Litt, M., McInnes, R., Sheffield, V.C., Stone, E.M., Refining the Locus for Best's Vitelliform Macular Dystrophy and Mutation Analysis of the Candidate Gene ROM1, American Journal of Human Genetics, (54) 95-103, 1994.
Stone, E.M., Nichols, B.E., Kimura, A.E., Weingeist, T.A., Drack, A.V., Sheffield, V.C., Clinical Features of a Stargardt-like Dominant Progressive Macular Dystrophy with Genetic Linkage to Chromosome 6q, Archives of Ophthalmology, (112) 763-772, 1994.
Heon, E., Piguet, B., Munier, F., Sneed, S.R., Morgan, C.M., Forni, S., Schorderet, D., Taylor, C.M., Streb, L.M., Wiles, C.D., Nishimura, D.Y., Sheffield, V.C., Stone, E.M., Linkage of Autosomal Dominant Radial Drusen (Malattia Leventinese) to Chromosome 2p16-21, Archives of Ophthalmology, (114) 193-198, 1996.
Stone EM, Lotery AJ, Munier FL, Heon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, Schorderet DF Nature Genetics 1999 (22):199-202 A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
Nichols, B.E., Sheffield, V.C., Vandenburgh, K., Drack, A.V., Kimura, A.E., Stone, E.M., Butterfly-Shaped Pigment Dystrophy of the Fovea is Caused by a Point Mutation in Codon 167 of the RDS Gene, Nature Genetics, (3) 202-207, 1993.
Nichols, B.E., Drack, A.V., Vandenburgh, K., Kimura, A.E., Sheffield, V.C., Stone, E.M., A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea, Human Molecular Genetics, (2) 601-603, 1993.
Weleber, R.G., Carr, R.E., Murphey, W.H., Sheffield, V.C., Stone, E.M., Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family with a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene, Archives of Ophthalmology, (111) 1531-1542, 1993.
Kemp, C.M., Jacobson, S.G., Cideciyan, A.V., Kimura, A.E., Sheffield, V.C., Stone, E.M., RDS Gene Mutations Causing Retinitis Pigmentosa or Macular Degeneration Lead to the Same Abnormality in Photoreceptor Function, Invest. Ophth. Vis. Sci., (35) 3154-3162, 1994.
Feist, R.M., White, M.F., Skajka, H., Stone, E.M., Choroidal Neovascularization in a Patient with Adult Foveomacular Dystrophy and a Mutation in the Retinal Degeneration Slow Gene(Pro210Arg), American Journal of Ophthalmology, (18) 259-260, 1994.
Gorin, M.B., Jackson, K.E., Ferrell, R.E., Sheffield, V.C., Jacobson, S.G., Gass, J.D., Mitchell, E., Stone, E.M., A Peripherin/Retinal Degeneration Slow Mutation (Pro-210-Arg) Associated with Macular and Peripheral Retinal Degeneration, Ophthalmology, (102) 246-255, 1995.
Jacobson, S.G., Cideciyan, A.V., Regunath, G., Rodriguez, F.J., Vandenburgh, K., Sheffield, V.C., Stone, E.M., Night blindness in Sorsby's fundus dystrophy TIMP-3-associated is reversed by vitamin A therapy, Nature Genetics, (11) 27-32, 1995.
Stone, E.M., Kimura, A.E., Nichols, B.E., Khadivi, P., Fishman, G.A., Sheffield, V.C., Regional Distribution of Retinal Degeneration in Patients with the Proline to Histidine Mutation in Codon 23 of the Rhodopsin Gene, Ophthalmology, (98) 1806-1813, 1991.
Fishman, G.A., Stone, E.M., Sheffield, V.C., Gilbert, L.D., Kenna, P., Ocular Findings Associated with a Rhodopsin Gene Codon 58 Transversion Mutation in Autosomal Dominant Retintis Pigmentosa, Archives of Ophthalmology, (109) 1387-1393, 1991.
Sheffield, V.C., Fishman, G.A., Beck, J.S., Kimura, A.E., Stone, E.M., Identification of Novel Rhodopsin Mutations Associated with Retintis Pigmentosa using GC-clamped Denaturing Gradient Gel Electrophoresis, American Journal of Human Genetics, (49) 699-706, 1991.
Fishman, G.A., Stone, E.M., Sheffield, V.C., Gilbert, L.D., Kimura, A.E., Ocular Findings Associated with Rhodopsin Gene Codon 17 and 182 Transition Mutations in Dominant Retinitis Pigmentosa, Archives of Ophthalmology, (110) 54-62, 1992.
Fishman, G.A., Stone, E.M., Gilbert, L.D., Sheffield, V.C., Ocular Findings Associated with a Rhodopsin Gene Codon 106 Transition Mutation in Autosomal Dominant Retinitis Pigmentosa, Archives of Ophthalmology, (110) 646-653, 1992.
Fishman, G.A., Vandenburgh, K., Stone, E.M., Gilbert, L.D., Alexander, K.R., Sheffield, V.C., Ocular Findings Associated With Rhodopsin Gene Codon 267 and Codon 190 Mutations in Dominant Retinitis Pigmentosa, Archives of Ophthalmology, (110) 1582-1588, 1992.
Stone, E.M., Vandenburgh, K., Nichols, B.E., Sheffield, V.C., Identification of rhodopsin gene mutations using GC-clamped denaturing gradient gel electrophoresis. In Photoreceptor Cells, edited by Paul Hargrave; one of a series: Methods in Neurosciences, P. Michael Conn, editor, Academic Press, Orlando, FL, pages 377-392, 1993.
Weleber, R.G., Carr, R.E., Murphey, W.H., Sheffield, V.C., Stone, E.M., Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family with a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene, Archives of Ophthalmology, (111) 1531-1542, 1993.
Kemp, C.M., Jacobson, S.G., Cideciyan, A.V., Kimura, A.E., Sheffield, V.C., Stone, E.M., RDS Gene Mutations Causing Retinitis Pigmentosa or Macular Degeneration Lead to the Same Abnormality in Photoreceptor Function, Invest. Ophth. Vis. Sci., (35) 3154-3162, 1994.
Fishman, G.A., Stone, E.M., Gilbert, L.D., Vandenburgh, K., Sheffield, V.C., Heckenlively, J.R., Clinical Features of a Previously Undescribed Codon 216 (Proline to Serine) Mutation in the Peripherin/RDS Gene in Autosomal Dominant Retinitis Pigmentosa, Ophthalmology, (101) 1409-1421, 1994.
Kimura, A.E., Drack, A.V., Stone, E.M., Retinitis Pigmentosa and Associated Disorders, in Pediatric Ophthalmology, K. Wright, F. Ellis, M. Mets, M. Del Monte, E. Buckley and E. Stone, editors, J. B. Lippincott Co., Philadelphia, PA, (1) 449-466, 1995.
Gorin, M.B., Jackson, K.E., Ferrell, R.E., Sheffield, V.C., Jacobson, S.G., Gass, J.D., Mitchell, E., Stone, E.M., A Peripherin/Retinal Degeneration Slow Mutation (Pro-210-Arg) Associated with Macular and Peripheral Retinal Degeneration, Ophthalmology, (102) 246-255, 1995.
Lam, B.L., Vandenburgh, K., Sheffield, V.C., Stone, E.M., Retinitis Pigmentosa Associated with a Dominant Mutation in Codon 46 of the Peripherin/RDS Gene (Arg-46-Stop), American Journal of Ophthalmology, (119) 65-71, 1995.
Bascom, R.A., Liu, L., Heckenlively, J.R., Stone, E.M., McInnes, R.R., Mutation analysis of ROM1 gene in retinitis pigmentosa, Human Molecular Genetics, (4) 1895-1902, 1995.
Johnson, A.T., Drack, A.V., Kwitek, A.E., Cannon, R.L., Stone, E.M., Alward, W.L.M., Clinical Features and Linkage Analysis of a Family with Autosomal Dominant Juvenile Glaucoma, Archives of Ophthalmology, (100) 524-529, 1993.
Sheffield, V.C., Stone, E.M., Alward, W.L.M., Drack, A.V., Johnson, A.T., Streb, L.M., Nichols, B.E., Genetic Linkage of familial open angle glaucoma to chromosome 1q21-q31, Nature Genetics, (4) 47-50, 1993.
Johnson, A.T., Alward, W.L.M., Sheffield, V.C., Stone, E.M., Genetics and Glaucoma, in The Glaucomas, Robert Ritch, M. Bruce Shields and Theodore Krupin eds. CV Mosby, in press.
Stone, E.M., Fingert, J.H., Alward, W.L.M., Nguyen, T.D., Polansky, J.R., Sunden, S.L.F., Nishimura, D., Clark, A.F., Nystuen, A., Nichols, B.E., Mackey, D.A., Ritch, R., Kalenak, J.W., Craven, E.R., Sheffield, V.C., Identification of a Gene that causes Primary Open Angle Glaucoma, Science, (275) 621, 1997.
Kwitek-Black, A.E., Carmi, R., Duyk, G.M., Buetow, K.H., Elbedour, K., Parvari, R., Yandava, C.N., Stone, E.M., Sheffield, V.C., Linkage of Bardet-Biedl Syndrome to Chromosome 16q and Evidence for Non-Allelic Genetic Heterogeneity, Nature Genetics, (5) 392-396, 1993.
Sheffield, V.C., Carmi, R., Kwitek-Black, A., Rokhlina, T., Nishimura, D., Duyk, G.M., Elbedour, K., Sunden, S.L., Stone, E.M., Identification of a Bardet-Biedl Syndrome Locus on Chromosome 3 and Evaluation of an Efficient Approach to Homozygosity Mapping, Human Molecular Genetics, (3) 1331-1335, 1994.
Carmi, R., Rokhlina, T., Kwitek-Black, A.E., Elbedour, K., Nishimura, D., Stone, E.M., Sheffield, V.C., Use of DNA Pooling Strategy to Identify a Human Obesity Syndrome Locus (Bardet Biedl) on Chomosome 15, Human Molecular Genetics, (4) 9-13, 1995.
Carmi, R., Elbedour, K., Stone, E.M., Sheffield, V.C. Phenotypic Differences Among Patinets with Bardet-Biedl Syndrome Linked to Three Different Chromosome Loci, J. Med Genetics, in press.
Holland, E.J., Daya, S.M., Stone, E.M., Folberg, R., Dobler, A.A., Cameron, J.D., Doughman, D.J., Avellino Corneal Dystrophy: Clinical Manifestations and Natural History, Ophthalmology, (99) 1564-1568, 1992.
Stone, E.M., Mathers, W.D., Rosenwasser, G., Holland, E., Folberg, R., Krachmer, J.H., Nichols, B.E., Gorevic, P.D., Taylor, C., Streb, L.M., Fishbaugh, J.A., Daley, T.E., Sucheski, B., Sheffield, V.C. Three Autosomal Dominant Corneal Dystrophies Map to Chromosome 5q, Nature Genetics, (6) 47-51, 1994.
Folberg, R., Stone, E.M., Sheffield, V.C., Mathers, W.D., The Relationship Between Granular, Lattice Type 1 and Avellino Corneal Dystrophies, Archives of Ophthalmology, (112) 1080-1085, 1994.
Héon, E., Mathers, W.D., Alward, W.L.M., Weisenthal, R., Sunden, S.L.F., Fishbaugh, J., Taylor, C.M., Krachmer, J.H., Sheffield, V.C., Stone, E.M., Linkage of Posterior Polymorphous Corneal Dystrophy to 20q11, Human Molecular Genetics, (4) 485-488, 1995.
Brown, D.M., Nichols, B.E., Weingeist, T.A., Sheffield, V.C., Kimura, A.E., Stone, E.M., Procollagen II Gene Mutation in Stickler Syndrome, Archives of Ophthalmology, (110) 1589-1593, 1992.
Brown, D.M., Vandenburgh, K., Kimura, A.E., Weingeist, T.A., Sheffield, V.C., Stone, E.M., Novel Frameshift Mutations in the Procollagen 2 Gene (COL2A1) associated with Stickler Syndrome (Hereditary Arthro-ophthalmopathy), Human Molecular Genetics, (4) 141-142, 1995.
Brown, D.M., Kimura, A.E., Weingeist, T.A., Stone, E.M., Erosive Vitreoretinopathy- A New Clinical Entity, Ophthalmology, (101) 694-704, 1994.
Brown, D.M., Graemiger, R.A., Hergersber, M., Schinzel, A., Messmer, E.P., Niemeyer, G., Schneeberger, S.A., Streb, L.M., Taylor, C.M., Kimura, A.E., Weingeist, T.A., Sheffield, V.C., Stone, E.M., Genetic Linkage of Wagner Disease and Erosive Vitreoretinopathy to Chromosome 5q13-14, Archives of Ophthalmology, (113) 671-675, 1995.
Bennett, S.R., Folk, J.C., Kimura, A.E., Russell, S.R., Stone, E.M., Raphtis, E.M., Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy, Ophthalmology, (97) 1125-1135, 1990.
Stone, E.M., Kimura, A.E., Folk, J.C., Bennett, S.R., Nichols, B.E., Streb, L.M., Sheffield, V.C., Genetic Linkage of Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy to Chromosome 11q13, Human Molecular Genetics, (1) 685-689, 1992.
Stone, E.M., Coppinger, J.C., Kardon, R.H., Donelson, J., Mae III Positively Detects the Mutation Associated with Leber's Hereditary Optic Neuropathy, Archives of Ophthalmology, (108) 1417-1420, 1990.
Smith, J.L., Tse, D.T., Byrne, S.F., Johns, D.R., Stone, E.M., Optic Nerve Sheath Distention in Leber's Optic Neuropathy and the Significance of the "Wallace Mutation", Journal of Clinical Neuro-ophthalmology, (10) 231-238, 1990.
Jacobson, D.M., Stone, E.M., Difficulty Differentiating Leber's from Dominant Optic Neuropathy in a Patient with Remote Visual Loss, Journal of Clinical Neuro-Ophthalmology, (11) 152-157, 1991.
Stone, E.M., Newman, N.J., Miller, N.R., Johns, D.R., Lott, M.T., Wallace, D.C., Visual Recovery in Patients with Leber's Hereditary Optic Neuropathy and the 11778 Mutation, Journal of Clinical Neuro-Ophthalmology, (12) 10-14, 1992.
Joos, K.M., Kimura, A.E., Vandenburgh, K., Bartley, J., Stone, E.M., Ocular Findings Associated with a Single Base Pair Mutation in the Norrie Disease Gene, Archives of Ophthalmology, (112) 1574-1579, 1994.
Scott, D.A., Carmi, R., Elbedour, K., Duyk, G.M., Stone, E.M., Sheffield, V.C., Non-Syndromic Autosomal Recessive Deafness is Linked to the DFNB1 Locus in a Large Inbred Bedouin Family from Israel, American Journal of Human Genetics, (57) 965-968, 1995.
Heon, E., Sheth, B.P., Kalenak, J.W., Sunden, S.L.F., Streb, L.M., Taylor, C.M., Alward, W.L.M., Sheffield, V.C., Stone, E.M., Linkage of Autosomal Dominant Iris Hypoplasia to the Rieger Syndrome Locus (4q25), Human Molecular Genetics, (4) 1435-1439, 1995.
Nystruen, A., Benke, P.J., Merren, J., Stone, E.M., Sheffield, V.C. A Cerebellar Ataxia Locus Identified by DNA Pooling to Search for Linkage Disequilibrium in an Isolated Population from the Cayman Islands, Human Molecular Genetics, in press.
Sheffield, V.C., Kraiem, Z., Beck, J.C., Nishimura, D., Stone, E.M., Salameh, M., Sadeh, O., Glaser, B. Pendred Syndrome 100 Year Later: Mapping the Disease Locus to Chromosome 7q21-34 and In Vitro Characterization of an Intrinsic Defect in Thyroid Iodine Organification, Nature Genetics, in press.
Johnson, A.T., Folberg, R., Vrabec, M.P., Florakis, G.J., Stone, E.M., Krachmer, J.H., The Pathology of Posterior Amorphous Corneal Dystrophy, Ophthalmology, (97) 104-109, 1990.
Sheffield, V.C., Beck, J.S., Myers, R.M., Stone, E.M., A Simple and Efficient Method for Attachment of a 40 Base Pair GC-Rich Sequence to PCR-Amplified DNA, Biotechniques, (12) 386-388, 1992.
Sheffield, V.C., Beck, J.S., Nichols, B.E., Cousineau, A., Lidral, A.C., Stone, E.M., Detection of Multi-Allele Polymorphisms within Gene Sequences by GC-clamped Denaturing Gradient Gel Electrophoresis, American Journal of Human Genetics, (50) 567-575, 1992.
Sheffield, V.C., Beck, J.S., Kwitek, A.E., Stone, E.M., The Sensitivity of Single Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions, Genomics, (16) 325-332, 1993.
Emery, M.M., Siegfried, E.C., Stone, M.S., Stone, E.M., Patil, S.R., Incontinentia Pigmenti: Transmission from Father to Daughter, Journal of the American Academy of Dermatology, (29) 368-372, 1993.
Nichols, B.E., Sheffield, V.C., Stone, E.M., A User Friendly Hypercard Interface for Human Linkage Analysis, Computer Applications in the Biosciences, (9) 757-759, 1993.
Sheffield, V.C., Nishimura, D.Y., Stone, E.M., Novel Approaches to Linkage Mapping, Current Opinions in Genetics and Development, (5) 335-341, 1995.
Stone, E.M., Nichols, B.E., Wolken, M.S., Montague, P.R., Thompson, H.S., New normative data for the Fransworth-Munsell 100-hue test, Colour Vision Deficiencies XI, Proceedings of the International Symposium, Sydney, 1991, Kluwer Academic Publishers, (56) 303-320.
Stone, E.M., Heritable disorders of RPE, Bruchs' membrane, and the choriocapillaris, in Pediatric Ophthalmology, K. Wright, F. Ellis, M. Mets, M. Del Monte, E. Buckley and E. Stone, editors, J. B. Lippincott Co., Philadelphia, PA, (1) 431-447, 1995.
Drack, A.V., Stone, E.M., Patterns of retinal disease in children, in Pediatric Ophthalmology, K. Wright, F. Ellis, M. Mets, M. Del Monte, E. Buckley and E. Stone, editors, J. B. Lippincott Co., Philadelphia, PA, (1) 563-580, 1995.
Stone, E.M., Sheffield, V.C., The Molecular Genetic Approach to Macular Degeneration, in Molecular Genetics of Inherited Eye Disorders, edited by A.F. Wright and B. Jay, Harwood Academic Publishers, Chur, Switzerland, (2) 173-195, 1994.
