E. Stone

发表

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.

Young H. Kwon, V. Sheffield, B. Davidson, 2001, Human molecular genetics.

Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization.

V. Sheffield, R. Swiderski, E. Stone, 2000, Investigative ophthalmology & visual science.

Use of isolated inbred human populations for identification of disease genes.

V. Sheffield, E. Stone, R. Carmi, 1998, Trends in genetics : TIG.

Novel approaches to linkage mapping.

V. Sheffield, E. Stone, D. Nishimura, 1995, Current opinion in genetics & development.

The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions.

V. Sheffield, A. Kwitek, E. Stone, 1993, Genomics.

A gene for familial juvenile polyposis maps to chromosome 18q21.1.

E. Stone, R. Summers, D. Nishimura, 1998, American journal of human genetics.

Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q.

V. Sheffield, E. Stone, T. Weingeist, 1994, Archives of ophthalmology.

Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cells.

V. Sheffield, E. Stone, J. Fingert, 2001, Investigative ophthalmology & visual science.

Prioritizing regions of candidate genes for efficient mutation screening

Brian O'Leary, V. Sheffield, T. Casavant, 2006, Human mutation.

An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.

V. Sheffield, E. Stone, K. Elbedour, 1996, American journal of human genetics.

An analysis of allelic variation in the ABCA4 gene.

V. Sheffield, S. Jacobson, T. Casavant, 2001, Investigative ophthalmology & visual science.

Characterization and comparison of the human and mouse GLC1A glaucoma genes.

V. Sheffield, R. Swiderski, E. Stone, 1998, Genome research.

Pitfalls in homozygosity mapping.

V. Sheffield, A. Cideciyan, S. Jacobson, 2000, American journal of human genetics.

Human genome meeting 2016

Kumar Kshitij Patel, Jose Maria Gonzalez-Izarzugaza, A. Pang, 2016, Human Genomics.

Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21.

V. Sheffield, E. Stone, D. Schorderet, 1996, Archives of ophthalmology.

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.

V. Sheffield, R. Ritch, J. Dickinson, 1999, Human molecular genetics.

Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure.

Edwin M Stone, Val C Sheffield, Abbot F Clark, 2008, The Journal of clinical investigation.

Mutation analysis of 3 genes in patients with Leber congenital amaurosis.

V. Sheffield, R. Carr, S. Jacobson, 2000, Archives of ophthalmology.

Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)

Annie P. Chiang, V. Sheffield, T. Casavant, 2004 .

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

V. Sheffield, S. Jacobson, A. Fulton, 2001, Human molecular genetics.

Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.

V. Sheffield, E. Stone, K. Elbedour, 1995, American journal of medical genetics.

A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands.

V. Sheffield, E. Stone, A. Nystuen, 1996, Human molecular genetics.

The relationship between granular, lattice type 1, and Avellino corneal dystrophies. A histopathologic study.

V. Sheffield, R. Folberg, E. Stone, 1994, Archives of ophthalmology.

Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.

V. Sheffield, E. Stone, D. Schorderet, 1996, Ophthalmic genetics.

Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension.

V. Sheffield, D. Mackey, E. Stone, 2001, Investigative ophthalmology & visual science.

Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa.

V. Sheffield, G. Fishman, E. Stone, 1992, Archives of ophthalmology.

Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2).

C. Wadelius, E. Stone, R. Mullins, 2007, Experimental eye research.

Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure.

V. Sheffield, E. Stone, I. Pang, 2007, Human molecular genetics.

A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy.

T. Beaty, N. Newman, E. Stone, 2000, American journal of ophthalmology.

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.

D Y Nishimura, V. Sheffield, D. Mackey, 2001, American journal of human genetics.

Autosomal dominant Stargardt-like macular dystrophy.

A. Edwards, E. Stone, L. Donoso, 2001, Survey of ophthalmology.

Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.

R G Weleber, A. Cideciyan, S. Jacobson, 2000, Investigative ophthalmology & visual science.

In Vivo Dark-field Imaging of the Retinal Pigment Epithelium Cell Mosaic References

D. M. Tait, T. Aleman, S. Jacobson, 2022 .

Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint.

V. Sheffield, E. Stone, S. Patil, 1997, Human molecular genetics.

Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration.

D F Schorderet, V. Sheffield, E. Stone, 2001, Archives of ophthalmology.

A Genome-Wide Association Study for Primary Open Angle Glaucoma and Macular Degeneration Reveals Novel Loci

V. Sheffield, T. Casavant, T. Scheetz, 2013, PloS one.

Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues.

V. Sheffield, R. Swiderski, E. Stone, 2001, Investigative ophthalmology & visual science.

Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly.

J. Fingert, C. M. Taylor, E. Stone, 1999, Archives of ophthalmology.

Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg)

E. Stone, R. Feist, M. White, 1994, American journal of ophthalmology.

Concentric retinitis pigmentosa: clinicopathologic correlations.

S. Jacobson, A. Milam, G. Aguirre, 2001, Experimental eye research.

Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1)

V. Sheffield, E. Stone, B. Lam, 1996, Ophthalmic genetics.

Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop).

V. Sheffield, E. Stone, B. Lam, 1995, American journal of ophthalmology.

Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14.

A. Schinzel, T. Weingeist, E. Messmer, 1995, Archives of ophthalmology.

Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization.

E. Stone, R. Mullins, M. H. Kuehn, 2012, Investigative ophthalmology & visual science.

Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene.

C. M. Kemp, V. Sheffield, A. Cideciyan, 1996, Investigative ophthalmology & visual science.

Genome-wide analysis of copy number variants in age-related macular degeneration

Young H. Kwon, V. Sheffield, T. Wassink, 2010, Human Genetics.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.