-Edwin M Stone Researcher Activity Profile

Research Author Detailed Information 

Edwin M Stone Publication Rate By Year

Edwin M Stone has published 2 paper(s) in 2006, 28 paper(s) in 2007, 6 paper(s) in 2008, for a total of 36 research publications in total.

Edwin M Em Stone Author Information

LAST NAME: stone

FIRST NAME: Edwin M

INITIALS: em

AFFILIATION:

Papers

Edwin M Stone's Publication Record

1. Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure. Year Published: 2007
Glaucoma Research, Alcon Research, Ltd, Fort Worth, TX 76134, USA. allan.shepard@alconlabs.com
2. Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations. Year Published: 2007
Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia 19104, and Howard Hughes Medical Institute, University of Iowa Hospitals and Clinics, Iowa City 52242, USA. cideciya@mail.med.upenn.edu
3. Familial cavitary optic disk anomalies: identification of a novel genetic locus. Year Published: 2007
Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa 52242, USA.
4. Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Year Published: 2007
Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
5. IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping. Year Published: 2007
Department of Computer Science, University of Iowa, Iowa City, Iowa, USA.
6. Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Year Published: 2006
Clinical Studies-Philadelphia, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
7. Fibulin-5 distribution in human eyes: relevance to age-related macular degeneration. Year Published: 2006
8. Complement factor H polymorphism p.Tyr402His and cuticular Drusen. Year Published: 2007
Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, USA.
9. Genetic factors modifying clinical expression of autosomal dominant RP. Year Published: 2007
Human Genetics Ctr and Dept. of Ophthalmology, Univ. of Texas, Houston, TX, USA. stephen.p.daiger@uth.tmc.edu
10. Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations. Year Published: 2007
Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, USA. aleman@mail.med.upenn.edu
11. Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease. Year Published: 2007
Carver Family Center for Macular Degeneration, Department of Ophthalmology and Visual Science, The University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA.
12. Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene. Year Published: 2007
Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida 33136, USA. blam@med.miami.edu
13. Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2). Year Published: 2007
Department of Ophthalmology and Vision Science, University of Arizona, Tucson, AZ 85724, USA.
14. Human cone photoreceptor dependence on RPE65 isomerase. Year Published: 2007
Scheie Eye Institute, Department of Ophthalmology, School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. jacobsos@mail.med.upenn.edu
15. Retinal dysfunction in carriers of bardet-biedl syndrome. Year Published: 2007
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, USA.
16. The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. Year Published: 2007
F.M. Kirby Center for Molecular Ophthalmology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
17. ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy. Year Published: 2007
Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK.
18. Leber Congenital Amaurosis-A Model for Efficient Genetic Testing of Heterogeneous Disorders: LXIV Edward Jackson Memorial Lecture. Year Published: 2007
Department of Ophthalmology, The University of Iowa College of Medicine, Carver Family Center for Macular Degeneration, Iowa City, Iowa.
19. LOXL1 Mutations Are Associated with Exfoliation Syndrome in Patients from the Midwestern United States. Year Published: 2007
Iowa City, Iowa.
20. ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy. Year Published: 2007
Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK.
21. A knockin mouse model of the Bardet Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Year Published: 2007
Departments of Pediatrics, Internal Medicine, Ophthalmology and Visual Sciences, Anatomy and Cell Biology, Radiology, and **Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242.
22. A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Year Published: 2007
Department of Pediatrics, Anatomy and Cell Biology, Radiology, University of Iowa, Iowa City, IA 52242, USA.
23. Retinal dysfunction in carriers of bardet-biedl syndrome. Year Published: 2007
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, USA.
24. TRANSCRIPT ANNOTATION PRIORITIZATION AND SCREENING SYSTEM (TrAPSS) FOR MUTATION SCREENING. Year Published: 2008
Coordinated Laboratory for Computational Genomics, University of Iowa, 5017 SC Iowa City, IA 52242, USA. boleary@eng.uiowa.edu.
25. A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Year Published: 2007
Department of Pediatrics, Anatomy and Cell Biology, Radiology, University of Iowa, Iowa City, IA 52242, USA.
26. Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Year Published: 2007
Department of Ophthalmology, The University of Iowa College of Medicine, Carver Family Center for Macular Degeneration, Iowa City, IA 52242, USA. edwin-stone@uiowa.edu
27. LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. Year Published: 2007
28. Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Year Published: 2007
Department of Ophthalmology, The University of Iowa College of Medicine, Carver Family Center for Macular Degeneration, Iowa City, IA 52242, USA. edwin-stone@uiowa.edu
29. LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. Year Published: 2007
30. Visual function testing: A quantifiable visually guided behavior in mice. Year Published: 2008
Howard Hughes Medical Institute and The Carver Family Center for Macular Degeneration, Department of Ophthalmology and Visual Sciences, 4111 MERF, 375 Newton Road, The University of Iowa, Iowa City, IA 52242, USA.
31. Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. Year Published: 2008
Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.
32. Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family. Year Published: 2008
Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
33. The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. Year Published: 2007
F.M. Kirby Center for Molecular Ophthalmology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
34. LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. Year Published: 2007
35. Transcript annotation prioritization and screening system (TrAPSS) for mutation screening. Year Published: 2008
Coordinated Laboratory for Computational Genomics, University of Iowa, Iowa City, IA 52242, USA. boleary@eng.uiowa.edu
36. Retinal laminar architecture in human retinitis pigmentosa caused by rhodopsin gene mutations. Year Published: 2008
Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania; the.