Long-term functional and structural outcomes in X-linked retinoschisis: implications for clinical trials
Fenner, Beau J, Russell, Jonathan F, Drack, Arlene V, Dumitrescu, Alina V, Sohn, Elliott H, Russell, Stephen R, Boldt, H Culver, Affatigato, Louisa M, Hoffmann, Jeremy M, Andorf, Jeaneen L, Stone, Edwin M, Han, Ian C
Published in Frontiers in medicine (15.06.2023)
Published in Frontiers in medicine (15.06.2023)
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Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
Schindler, Emily I., Nylen, Erik L., Ko, Audrey C., Affatigato, Louisa M., Heggen, Andrew C., Wang, Kai, Sheffield, Val C., Stone, Edwin M.
Published in Human molecular genetics (01.10.2010)
Published in Human molecular genetics (01.10.2010)
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Journal Article
Wide-Field Swept-Source OCT and Angiography in X-Linked Retinoschisis
Han, Ian C, Whitmore, S Scott, Critser, D Brice, Lee, Sun Young, DeLuca, Adam P, Daggett, Heather T, Affatigato, Louisa M, Mullins, Robert F, Tucker, Budd A, Drack, Arlene V, Stone, Edwin M
Published in Ophthalmology retina (01.02.2019)
Published in Ophthalmology retina (01.02.2019)
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Journal Article
cGMP production of patient-specific iPSCs and photoreceptor precursor cells to treat retinal degenerative blindness
Wiley, Luke A, Burnight, Erin R, DeLuca, Adam P, Anfinson, Kristin R, Cranston, Cathryn M, Kaalberg, Emily E, Penticoff, Jessica A, Affatigato, Louisa M, Mullins, Robert F, Stone, Edwin M, Tucker, Budd A
Published in Scientific reports (29.07.2016)
Published in Scientific reports (29.07.2016)
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Journal Article
Scleral pits represent degeneration around the posterior ciliary arteries and are signs of disease severity in choroideremia
Harvey, Christy M, Whitmore, S Scott, Critser, D Brice, Affatigato, Louisa M, Daggett, Heather T, Stone, Edwin M, Han, Ian C
Published in Eye (London) (01.04.2020)
Published in Eye (London) (01.04.2020)
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Journal Article
Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene
Stone, Edwin M, Luo, Xunda, Héon, Elise, Lam, Byron L, Weleber, Richard G, Halder, Jennifer A, Affatigato, Louisa M, Goldberg, Jacqueline B, Sumaroka, Alexander, Schwartz, Sharon B, Cideciyan, Artur V, Jacobson, Samuel G
Published in Investigative ophthalmology & visual science (01.12.2011)
Published in Investigative ophthalmology & visual science (01.12.2011)
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Journal Article
Intrafamilial Variability of Ocular Manifestations of von Hippel-Lindau Disease
Bowen, Randy Christopher, Boldt, H Culver, Mullins, Robert F, Field, Matthew G, Affatigato, Louisa M, Hoffmann, Jeremy M, Folk, James C, Gehrs, Karen M, Han, Ian C, Sohn, Elliott H, Russell, Stephen R, Stone, Edwin M, Tucker, Budd A, Binkley, Elaine M
Published in Ophthalmology retina (01.01.2022)
Published in Ophthalmology retina (01.01.2022)
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Journal Article
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma
Alward, Wallace L.M, Kwon, Young H, Kawase, Kazuhide, Craig, Jamie E, Hayreh, Sohan S, Johnson, A.Tim, Khanna, Cheryl L, Yamamoto, Tetsuya, Mackey, David A, Roos, Benjamin R, Affatigato, Louisa M, Sheffield, Val C, Stone, Edwin M
Published in American journal of ophthalmology (01.11.2003)
Published in American journal of ophthalmology (01.11.2003)
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Journal Article
A Novel GCAP1 Missense Mutation (L151F) in a Large Family with Autosomal Dominant Cone-Rod Dystrophy (adCORD)
Sokal, Izabela, Dupps, William J, Grassi, Michael A, Brown, Jeremiah, Jr, Affatigato, Louisa M, Roychowdhury, Nirmalya, Yang, Lili, Filipek, Slawomir, Palczewski, Krzysztof, Stone, Edwin M, Baehr, Wolfgang
Published in Investigative ophthalmology & visual science (01.04.2005)
Published in Investigative ophthalmology & visual science (01.04.2005)
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Journal Article
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration
Swain, P K, Chen, S, Wang, Q L, Affatigato, L M, Coats, C L, Brady, K D, Fishman, G A, Jacobson, S G, Swaroop, A, Stone, E, Sieving, P A, Zack, D J
Published in Neuron (Cambridge, Mass.) (01.12.1997)
Published in Neuron (Cambridge, Mass.) (01.12.1997)
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Journal Article
Allelic Variation in the VMD2 Gene in Best Disease and Age-Related Macular Degeneration
Lotery, Andrew J, Munier, Francis L, Fishman, Gerald A, Weleber, Richard G, Jacobson, Samuel G, Affatigato, Louisa M, Nichols, Brian E, Schorderet, Daniel F, Sheffield, Val C, Stone, Edwin M
Published in Investigative ophthalmology & visual science (01.05.2000)
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Published in Investigative ophthalmology & visual science (01.05.2000)
Journal Article
Disease Expression of RP1 Mutations Causing Autosomal Dominant Retinitis Pigmentosa
Jacobson, Samuel G, Cideciyan, Artur V, Iannaccone, Alessandro, Weleber, Richard G, Fishman, Gerald A, Maguire, Albert M, Affatigato, Louisa M, Bennett, Jean, Pierce, Eric A, Danciger, Michael, Farber, Debora B, Stone, Edwin M
Published in Investigative ophthalmology & visual science (01.06.2000)
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Published in Investigative ophthalmology & visual science (01.06.2000)
Journal Article
Familial Cavitary Optic Disk Anomalies: Identification of a Novel Genetic Locus
Fingert, John H, Honkanen, Robert A, Shankar, Suma P, Affatigato, Louisa M, Ehlinger, Mary A, Moore, Michael D, Jampol, Lee M, Sheffield, Val C, Stone, Edwin M, Alward, Wallace L.M
Published in American journal of ophthalmology (01.05.2007)
Published in American journal of ophthalmology (01.05.2007)
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Journal Article
Gene transfer to the nonhuman primate retina with recombinant feline immunodeficiency virus vectors
Lotery, Andrew J, Derksen, Todd A, Russell, Stephen R, Mullins, Robert F, Sauter, Sybille, Affatigato, Louisa M, Stone, Edwin M, Davidson, Beverly L
Published in Human gene therapy (10.04.2002)
Published in Human gene therapy (10.04.2002)
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Journal Article
Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene
Jacobson, SG, Cideciyan, AV, Huang, Y, Hanna, DB, Freund, CL, Affatigato, LM, Carr, RE, Zack, DJ, Stone, EM, McInnes, RR
Published in Investigative ophthalmology & visual science (01.11.1998)
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Published in Investigative ophthalmology & visual science (01.11.1998)
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