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ARVO Annual Meeting Abstract June 2023

An Open-access Web-based System for Inherited Retinal Disease Education

Edwin M Stone; Adam P DeLuca; Jeaneen L Andorf; Ben P Faga; Laurel A Faga; Louisa M Affatigato; Jeremy M Hoffmann; Douglas B Critser; Nicholas D Lessing; Terry A Braun; Todd E Scheetz

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):480.

ARVO Annual Meeting Abstract June 2022

Relative abundance of FH and FHR-4 in genotyped human donor eyes: significance for AMD pathogenesis

Kelly Mulfaul; Malia M Collins; Louisa M Affatigato; Edwin M Stone; Budd A. Tucker; Robert F Mullins

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4615 – F0407.

ARVO Annual Meeting Abstract June 2021

Mutational burden of mt3243G in blood correlates with the age of onset of retinal symptoms.

Nathaniel Kevin Mullin; Kristin R. Anfinson; Louisa M. Affatigato; Jeaneen L. Andorf; Megan J. Riker; Robert F Mullins; Edwin M Stone; Budd A. Tucker

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1518.

ARVO Annual Meeting Abstract July 2019

Development of a CRISPR dCas9-KRAB based strategy for treatment for dominant retinal degenerative blindness

Erin R. Burnight; Jessica A. Cooke; Darcey Klaahsen; Luan M. Streb; Louisa M. Affatigato; Robert F Mullins; Edwin M Stone; Budd Tucker

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5983.

ARVO Annual Meeting Abstract July 2018

Predominance of hyperopia in patients with molecularly confirmed Best disease

Sam Abbassi; Elaine Binkley; Ian C Han; Steven M. Christiansen; Meagan Luse; Louisa M Affatigato; Jeanen Andorf; Lawrence A. Yannuzzi; Edwin M Stone

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3368.

ARVO Annual Meeting Abstract June 2017

Characterization and Treatment of RPGR-associated Photoreceptor Disease

Joseph C Giacalone; Luke A Wiley; Erin R Burnight; Jeaneen Andorf; Luan M Streb; Louisa M Affatigato; Cathryn Cranston; Dalyz Ochoa; Robert F Mullins; Budd Tucker; Edwin M Stone

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4515.

ARVO Annual Meeting Abstract September 2016

CRISPR-based Genome Editing for treatment of CEP290 -IVS26-associated Leber Congenital Amaurosis (LCA)

Edwin M Stone; Erin R Burnight; Luke A Wiley; Luan M Streb; Louisa M Affatigato; Jeaneen A Andorf; Robert F Mullins; Budd A Tucker

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12)

ARVO Annual Meeting Abstract June 2015

Any Way You Splice It: Analysis of Alternative Splicing in Macular, Nasal, and Temporal Retina as Assessed by RNA-Seq

S Scott Whitmore; Adam P DeLuca; Shemin Zeng; Louisa M. Affatigato; Jade S. East; Budd Tucker; Edwin M Stone; Robert F Mullins; Todd E Scheetz

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5500.

ARVO Annual Meeting Abstract April 2014

Using stem cells to develop gene therapy for Batten Disease.

Budd A Tucker; Luke A Wiley; Kristin Anfinson; Dalyz Ochoa; Jeaneen Andorf; Louisa M Affatigato; Arlene V Drack; Edwin M Stone

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3986.

ARVO Annual Meeting Abstract March 2012

ARMS2 A69S Associated Alternative Splicing and Differential Gene Expression in Human RPE/Choroid

S. Scott Whitmore; Terry A. Braun; Todd E. Scheetz; Aditi Khanna; Louisa M. Affatigato; Edwin M. Stone; Robert F. Mullins

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):6501.

Genetics December 2011

Autosomal Recessive Retinitis Pigmentosa Caused by Mutations in the MAK Gene

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Edwin M. Stone; Xunda Luo; Elise Héon; Byron L. Lam; Richard G. Weleber; Jennifer A. Halder; Louisa M. Affatigato; Jacqueline B. Goldberg; Alexander Sumaroka; Sharon B. Schwartz; Artur V. Cideciyan; Samuel G. Jacobson
TAGS: autosomal recessive inheritance, genes, mutation, retinitis pigmentosa, rod photoreceptors, perimetry, retinal cone, vision
Invest. Ophthalmol. Vis. Sci.. 2011; 52(13):9665-9673. https://doi.org/10.1167/iovs.11-8527

ARVO Annual Meeting Abstract April 2011

Analysis of 200 Human Exomes for Improved Mutation Detection Specificity

Edwin M. Stone; Adam DeLuca; Todd E. Scheetz; Terry A. Braun; Louisa M. Affatigato; Heather T. Daggett; Rebecca M. Johnston; Megan R. Streb; Val C. Sheffield

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):3314.

ARVO Annual Meeting Abstract April 2009

A Method for Deducing the Pathogenic Contribution of Individual Recessive Disease Alleles

E. M. Stone; E. I. Schindler; A. C. Ko; L. M. Affatigato; J. M. Hoffmann; G. A. Fishman; R. G. Weleber; S. G. Jacobson; A. V. Cideciyan; A. V. Drack

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):4128.

ARVO Annual Meeting Abstract May 2008

Useful Vision in Mice Lacking Photoreceptor Outer-Segments

S. Thompson; A. R. Philp; R. F. Mullins; L. M. Streb; L. M. Affatigato; R. Johnston; J. A. Scheibe-Owens; A. C. Owings; N. Mrosovsky; E. M. Stone

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):2845.

ARVO Annual Meeting Abstract May 2007

Identification of a Novel Genetic Locus for Familial Cavitary Optic Disc Anomalies

J. H. Fingert; R. A. Honkanen; S. P. Shankar; M. A. Ehlinger; L. M. Affatigato; L. M. Jampol; T. E. Scheetz; V. C. Sheffield; E. M. Stone; W. L. M. Alward

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):4038.

Biochemistry and Molecular Biology April 2005

A Novel GCAP1 Missense Mutation (L151F) in a Large Family with Autosomal Dominant Cone-Rod Dystrophy (adCORD)

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Izabela Sokal; William J. Dupps; Michael A. Grassi; Jeremiah Brown, Jr; Louisa M. Affatigato; Nirmalya Roychowdhury; Lili Yang; Sławomir Filipek; Krzysztof Palczewski; Edwin M. Stone; Wolfgang Baehr
TAGS: family, missense mutation, mutation, progressive cone-rod dystrophy, retinitis pigmentosa, phenotype, fluorescence, persistence, photoreceptors
Invest. Ophthalmol. Vis. Sci.. 2005; 46(4):1124-1132. https://doi.org/10.1167/iovs.04-1431

ARVO Annual Meeting Abstract December 2002

Identification of a Novel OPA1 Mutation in a Large Family With a Severe Dominant Optic Atrophy Phenotype

JH Fingert; LM Affatigato; JL Secrist; SP Shankar; VC Sheffield; EM Stone

Invest. Ophthalmol. Vis. Sci.. 2002; 43(13):2397.

Retina June 2000

Disease Expression of RP1 Mutations Causing Autosomal Dominant Retinitis Pigmentosa

PDF

Samuel G. Jacobson; Artur V. Cideciyan; Alessandro Iannaccone; Richard G. Weleber; Gerald A. Fishman; Albert M. Maguire; Louisa M. Affatigato; Jean Bennett; Eric A. Pierce; Michael Danciger; Debora B. Farber; Edwin M. Stone
TAGS: mutation, retinitis pigmentosa, retinal cone, rod photoreceptors, phenotype, family, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2000; 41(7):1898-1908.

Biochemistry and Molecular Biology May 2000

Allelic Variation in the VMD2 Gene in Best Disease and Age-Related Macular Degeneration

PDF

Andrew J. Lotery; Francis L. Munier; Gerald A. Fishman; Richard G. Weleber; Samuel G. Jacobson; Louisa M. Affatigato; Brian E. Nichols; Daniel F. Schorderet; Val C. Sheffield; Edwin M. Stone
TAGS: age-related macular degeneration, genes, vitelliform dystrophy
Invest. Ophthalmol. Vis. Sci.. 2000; 41(6):1291-1296.

Articles November 1998

Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.

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S G Jacobson; A V Cideciyan; Y Huang; D B Hanna; C L Freund; L M Affatigato; R E Carr; D J Zack; E M Stone; R R McInnes
TAGS: genes, mutation, retinal cone, retinal degeneration, rod photoreceptors
Invest. Ophthalmol. Vis. Sci.. 1998; 39(12):2417-2426.

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An Open-access Web-based System for Inherited Retinal Disease Education

Relative abundance of FH and FHR-4 in genotyped human donor eyes: significance for AMD pathogenesis

Mutational burden of mt3243G in blood correlates with the age of onset of retinal symptoms.

Development of a CRISPR dCas9-KRAB based strategy for treatment for dominant retinal degenerative blindness

Predominance of hyperopia in patients with molecularly confirmed Best disease

Characterization and Treatment of RPGR-associated Photoreceptor Disease

CRISPR-based Genome Editing for treatment of CEP290 -IVS26-associated Leber Congenital Amaurosis (LCA)

Any Way You Splice It: Analysis of Alternative Splicing in Macular, Nasal, and Temporal Retina as Assessed by RNA-Seq

Using stem cells to develop gene therapy for Batten Disease.

ARMS2 A69S Associated Alternative Splicing and Differential Gene Expression in Human RPE/Choroid

Autosomal Recessive Retinitis Pigmentosa Caused by Mutations in the MAK Gene

Analysis of 200 Human Exomes for Improved Mutation Detection Specificity

A Method for Deducing the Pathogenic Contribution of Individual Recessive Disease Alleles

Useful Vision in Mice Lacking Photoreceptor Outer-Segments

Identification of a Novel Genetic Locus for Familial Cavitary Optic Disc Anomalies

A Novel GCAP1 Missense Mutation (L151F) in a Large Family with Autosomal Dominant Cone-Rod Dystrophy (adCORD)

Identification of a Novel OPA1 Mutation in a Large Family With a Severe Dominant Optic Atrophy Phenotype

Disease Expression of RP1 Mutations Causing Autosomal Dominant Retinitis Pigmentosa

Allelic Variation in the VMD2 Gene in Best Disease and Age-Related Macular Degeneration

Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.

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