Edwin M Stone

发表

Spectacle: An interactive resource for ocular single-cell RNA sequencing data analysis.

Adam P. DeLuca, Andrew P Voigt, S Scott Whitmore, 2020, Experimental eye research.

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.

IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping.

Albert O Edwards, Thomas L Casavant, Edwin M Stone, 2007, Investigative ophthalmology & visual science.

Oculogenetic highlights include advances in therapy and technology

Edwin M Stone, 2010 .

Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.

Edwin M Stone, Alexander Sumaroka, A. J. Roman, 2009, Investigative ophthalmology & visual science.

Comparison of retinal and choriocapillaris thicknesses following sitting to supine transition in healthy individuals and patients with age-related macular degeneration.

Milan Sonka, Michael D Abràmoff, Edwin M Stone, 2015, JAMA ophthalmology.

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

Adam P. DeLuca, S Scott Whitmore, Adam P DeLuca, 2016, Ophthalmology.

Two-photon polymerization for production of human iPSC-derived retinal cell grafts.

Budd A Tucker, Edwin M Stone, Robert F Mullins, 2017, Acta biomaterialia.

Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation.

Edwin M Stone, David A Mackey, Jamie E Craig, 2003, Archives of ophthalmology.

Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence.

Jean Bennett, Edwin M Stone, T. Aleman, 2004, Human molecular genetics.

Lumpers or Splitters? The Role of Molecular Diagnosis in Leber Congenital Amaurosis

Elias I Traboulsi, Edwin M Stone, E. Stone, 2006, Ophthalmic genetics.

Copy number variations and primary open-angle glaucoma.

Young H. Kwon, Edwin M Stone, Todd E Scheetz, 2011, Investigative ophthalmology & visual science.

Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.

Edwin M Stone, Val C Sheffield, Michael J Pianta, 2003, Ophthalmology.

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

Edwin M Stone, Terence R Flotte, Alexander Sumaroka, 2008, Proceedings of the National Academy of Sciences.

Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.

Krzysztof Palczewski, Edwin M Stone, Ning Zhang, 2015, Human molecular genetics.

Automated discovery and quantification of image-based complex phenotypes: a twin study of drusen phenotypes in age-related macular degeneration.

Michael D Abràmoff, Johanna M Seddon, Gwenole Quellec, 2011, Investigative ophthalmology & visual science.

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).

Thomas L Casavant, Edwin M Stone, Todd E Scheetz, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.

Maureen Neitz, Alfredo Dubra, Edwin M Stone, 2012, American journal of ophthalmology.

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

Edwin M Stone, Val C Sheffield, Annie P. Chiang, 2004, American journal of human genetics.

In vivo micropathology of Best macular dystrophy with optical coherence tomography.

Edwin M Stone, Michael J Pianta, Donald J Zack, 2003, Experimental eye research.

Complement factor H polymorphism p.Tyr402His and cuticular Drusen.

Edwin M Stone, Todd E Scheetz, Val C Sheffield, 2007, Archives of ophthalmology.

Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy.

Edwin M Stone, Robert F Mullins, Elliott H Sohn, 2012, Archives of ophthalmology.

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

Adam P. DeLuca, S Scott Whitmore, Adam P DeLuca, 2017, Ophthalmology.

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

Edwin M Stone, Leslie G Biesecker, Val C Sheffield, 2005, American journal of human 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.

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration.

Edwin M Stone, Val C Sheffield, Alexander Sumaroka, 2004, Human molecular genetics.

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.

William J Feuer, Edwin M Stone, Alexander Sumaroka, 2012, Archives of ophthalmology.

Human photoreceptor outer segments shorten during light adaptation.

Milan Sonka, Kyungmoo Lee, Michael D Abràmoff, 2013, Investigative ophthalmology & visual science.

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.

Edwin M Stone, Val C Sheffield, Alexander Sumaroka, 2003, Human molecular genetics.

Macular degeneration.

Edwin M Stone, E. Stone, 2007, Annual review of medicine.