Val C. Sheffield, M.D., Ph.D.
机构: Investigator, Howard Hughes Medical Institute, Professor of Pediatrics, University of Iowa
每年引用次数
引用次数
引用: 58,618
H-指数: 126
I10-指数 : 353
出版物: 707
Microsatellite instability in adenocarcinoma of the prostate
A. M. Nystuen , R. B. Terrell , M. B. Cohen , V. C. Sheffield
American Journal of Pathology 147 ( 3) 799 -805
27
1995
Detection of single base changes in DNA : Ribonuclease cleavage and denaturing gradient gel electrophoresis
K. E. Davies , R. M. Myers , D. R. Cox , V. C. Sheffield
Genome analysis: a practical approach. 95 -139
67
1988
Novel Mutation in the Retinol Dehydrogenase 12 (rdh12) Gene Is Associated With Retinitis Pigmentosa in a Large Autosomal Dominant Pedigree From Iowa
U. J. Adkins , J. H. Fingert , T. E. Scheetz , B. R. Roos
Investigative Ophthalmology & Visual Science 49 ( 13) 1695 -1695
2008
Variations in the TCF8 Gene Are Associated With a Posterior Polymorphous Corneal Dystrophy Phenotype
J. E. Sutphin , J. A. Scheibe-Owens , J. H. Fingert , J. M. Hoffmann
Investigative Ophthalmology & Visual Science 48 ( 13) 5848 -5848
1
2007
CPS: A Collaborative Phenotype System
T. L. Casavant , T. E. Scheetz , T. A. Braun , W. D. Walls
Investigative Ophthalmology & Visual Science 50 ( 13) 2825 -2825
2009
Multigenic Heteroygous Mutations in Bbs1/bbs7 Result in Pathogenic Phenotypes in Mice
A. R. Philp , A. R. Philp , D. Y. Nishimura , D. Y. Nishimura
Investigative Ophthalmology & Visual Science 49 ( 13) 2211 -2211
2008
Automated Sequence Analysis Pipeline (ASAP) for Genetic Testing
T. L. Casavant , T. E. Scheetz , T. A. Braun , A. P. DeLuca
Investigative Ophthalmology & Visual Science 50 ( 13) 4133 -4133
2009
A Strategy for Efficient Molecular Diagnosis of Genetically Heterogeneous Autosomal Recessive Diseases
R. G. Weleber , J. H. Fingert , T. A. Braun , J. L. Andorf
Investigative Ophthalmology & Visual Science 48 ( 13) 2333 -2333
2007
Genomic Fragment Capture and Pyrophosphate Sequencing for Retinitis Pigmentosa Gene Discovery
A. J. Grundstad , T. E. Scheetz , T. A. Braun , T. R. Kinnick
Investigative Ophthalmology & Visual Science 50 ( 13) 2820 -2820
2009
Novel FRMD7 Mutation Is Associated With X-Linked Idiopathic Congenital Nystagmus in a Large Pedigree From Iowa
S. P. Shankar , E. M. Stone , E. M. Stone , V. C. Sheffield
Investigative Ophthalmology & Visual Science 48 ( 13) 1323 -1323
2007
Different Bipolar Cell Input Pathways for Negative Masking and the Pupil Light Reflex in Mice
R. H. Kardon , R. H. Kardon , R. F. Mullins , S. F. Stasheff
Investigative Ophthalmology & Visual Science 51 ( 13) 669 -669
2010
Identification of a Novel Glaucoma Locus
E. M. Stone , V. C. Sheffield , V. C. Sheffield , T. H. Wassink
Investigative Ophthalmology & Visual Science 51 ( 13) 2159 -2159
2010
Association Study of Pigment Dispersion Syndrome
J. H. Fingert , T. E. Scheetz , B. R. Roos , Y. H. Kwon
Investigative Ophthalmology & Visual Science 50 ( 13) 880 -880
2009
Correlation of Gene Expression in Retinitis Pigmentosa and Bardet-Bieldl Syndrome
T. L. Casavant , T. A. Braun , E. M. Stone , E. M. Stone
Investigative Ophthalmology & Visual Science 48 ( 13) 2336 -2336
2007
Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.
R. McInnes , B. E. Nichols , E. M. Stone , V. C. Sheffield
American Journal of Human Genetics 54 ( 1) 95 -103
34
1994
Gene expression during chick limb cartilage differentiation.
D. Kravis , A. Dorfman , W. B. Upholt , V. C. Sheffield
Progress in Clinical and Biological Research 175 -182
1982
Post-receptoral rod and cone abnormalities in retinitis pigmentosa caused by rhodopsin gene mutations
D. C. Hood , J. Nathans , E. M. Stone , S. G. Jacobson
Investigative Ophthalmology & Visual Science 37 ( 3)
1996
Photoreceptor function in patients with heterozygous peripherin/RDS gene mutations
E. M. Stone , S. G. Jacobson , V. C. Sheffield , C. M. Kemp
Investigative Ophthalmology & Visual Science 36 ( 4) 913
3
1995
Development of a Collaborative Ocular Phenotype Database
T. L. Casavant , T. E. Scheetz , T. A. Braun , D. J. Tack
Investigative Ophthalmology & Visual Science 48 ( 13) 4634 -4634
2007
Identification of a Novel Genetic Locus for Familial Cavitary Optic Disc Anomalies
J. H. Fingert , T. E. Scheetz , L. M. Affatigato , R. A. Honkanen
Investigative Ophthalmology & Visual Science 48 ( 13) 4038 -4038
2007