E M Stone

发表

Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel.

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

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

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

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.

V. Sheffield, E. Stone, K. Elbedour, 1994, Human molecular genetics.

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.

V. Sheffield, E. Stone, K. Elbedour, 1995, Human molecular genetics.

Mutations in the SMAD4/DPC4 gene in juvenile polyposis.

L. Aaltonen, R. Houlston, E. Stone, 1998, Science.

Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.

A. V. Cideciyan, R. Carr, D. Zack, 1998, Investigative ophthalmology & visual science.

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.

Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa

R G Weleber, E. Stone, R. Weleber, 2004, British Journal of Ophthalmology.

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.

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

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

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.

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.

Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.

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

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.