Jeaneen Andorf

发表

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

V. Sheffield, R. Carr, S. Jacobson, 2000, 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.

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.

V. Sheffield, R. Swiderski, E. Stone, 2004, Proceedings of the National Academy of Sciences of the United States of America.

Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

A. Munnich, A. D. den Hollander, F. Cremers, 2013, PloS one.

Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.

Rebecca M. Johnson, V. Sheffield, T. Scheetz, 2008, Archives of ophthalmology.

Propensity of Patient-Derived iPSCs for Retinal Differentiation: Implications for Autologous Cell Replacement

Adam P. DeLuca, Andrew P. Voigt, E. Stone, 2023, Stem cells translational medicine.

Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9

E. Stone, B. Tucker, E. Burnight, 2019, Genes.

Predominance of hyperopia in autosomal dominant Best vitelliform macular dystrophy

Ian C. Han, L. Yannuzzi, E. Stone, 2020, British Journal of Ophthalmology.

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

Adam P. DeLuca, V. Sheffield, A. Cideciyan, 2013, Human molecular genetics.

No association between variations in the WDR36 gene and primary open-angle glaucoma.

Young H. Kwon, V. Sheffield, D. Mackey, 2007, Archives of ophthalmology.

Transcript Annotation Prioritization and Screening System (TRApss) for Mutation Screening

Thomas L. Casavant, Todd E. Scheetz, Val C. Sheffield, 2007, J. Bioinform. Comput. Biol..

Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration.

G. Daley, E. Stone, T. Schlaeger, 2017, Molecular therapy : the journal of the American Society of Gene Therapy.

Modeling rod and cone photoreceptor cell survival in vivo using optical coherence tomography

Adam P. DeLuca, Ian C. Han, E. Stone, 2022, medRxiv.

Exonic splice variant discovery using in vitro models of inherited retinal disease

B. Tucker, Nathaniel K. Mullin, L. Bohrer, 2024, bioRxiv.

Development of a Molecularly Stable Gene Therapy Vector for the Treatment of RPGR-associated X-linked Retinitis Pigmentosa.

Ian C. Han, V. Sheffield, E. Stone, 2019, Human gene therapy.

Genomic organization and mutation analysis of the gene encoding lecithin retinol acyltransferase in human retinal pigment epithelium.

E. Stone, D. Bok, G. Hageman, 2001, Investigative ophthalmology & visual science.