S. Jacobson

发表

Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial.

W. Hauswirth, T. Aleman, S. Kaushal, 2008, Human gene therapy.

Macular pigment and lutein supplementation in choroideremia.

T. Aleman, A. Cideciyan, S. Jacobson, 2002, Experimental eye research.

Pitfalls in homozygosity mapping.

V. Sheffield, A. Cideciyan, S. Jacobson, 2000, American journal of human genetics.

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.

S. Jacobson, B. Lorenz, T. Rosenberg, 2002, American journal of human genetics.

Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year.

A. J. Roman, W. Hauswirth, T. Aleman, 2009, Human gene therapy.

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

T. Aleman, A. Cideciyan, S. Schwartz, 2005, Proceedings of the National Academy of Sciences of the United States of America.

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

A. J. Roman, Ian C. Han, A. Cideciyan, 2018, Nature Medicine.

Relation of optical coherence tomography to microanatomy in normal and rd chickens.

A. Cideciyan, S. Jacobson, A. Milam, 1998, Investigative ophthalmology & visual science.

Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype.

T. Aleman, A. Cideciyan, S. Jacobson, 2002, Experimental eye research.

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

S. Jacobson, G. Fishman, Rui Chen, 2013, Journal of Medical Genetics.

IQCB1 mutations in patients with leber congenital amaurosis.

S. Jacobson, A. D. den Hollander, E. Zrenner, 2011, Investigative ophthalmology & visual science.

TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.

A. J. Roman, A. Cideciyan, S. Schwartz, 2014, Investigative ophthalmology & visual science.

Patterns of Individual Variation in Visual Pathway Structure and Function in the Sighted and Blind

Efstathios D. Gennatas, Omar H. Butt, H. Bridge, 2016, bioRxiv.

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.

Olivier Poch, Xavier Zanlonghi, Odile Lecompte, 2013, American journal of human genetics.

Patterns of individual variation in visual pathway structure and function in the sighted and blind

Efstathios D. Gennatas, Omar H. Butt, H. Bridge, 2016, bioRxiv.

Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence

Alexander Sumaroka, Artur V. Cideciyan, Rebecca Sheplock, 2019, Investigative ophthalmology & visual science.

Title Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients

S. Jacobson, C. Cremers, D. Corey, 2007 .

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.

Subhadra Jalali, Anand Swaroop, S. Jacobson, 2006, American journal of human genetics.

OUTCOME MEASURES AND THEIR APPLICATION IN CLINICAL TRIALS FOR RETINAL DEGENERATIVE DISEASES: Outline, Review, and Perspective

A. V. Cideciyan, A. Cideciyan, S. Jacobson, 2005, Retina.

Pseudo-fovea formation after gene therapy for RPE65-LCA.

Omar H. Butt, A. J. Roman, W. Hauswirth, 2014, Investigative ophthalmology & visual science.

Cynthia Owsley, Maureen G Maguire, G. R. Jackson, 2002, Ophthalmology.

Phenotypic marker for early disease detection in dominant late-onset retinal degeneration.

A. Cideciyan, S. Jacobson, A. Wright, 2001, Investigative ophthalmology & visual science.

Psychophysical evidence for rod vulnerability in age-related macular degeneration.

C Owsley, G. R. Jackson, M G Maguire, 2000, Investigative ophthalmology & visual science.

Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration.

A. Cideciyan, S. Jacobson, A. Milam, 1996, Investigative ophthalmology & visual science.

Night blindness in Sorsby's fundus dystrophy reversed by vitamin A

V. Sheffield, A. Cideciyan, S. Jacobson, 1995, Nature Genetics.

RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function.

C. M. Kemp, V. Sheffield, A. Cideciyan, 1994, Investigative ophthalmology & visual science.

Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial

A. J. Roman, Ian C. Han, A. Cideciyan, 2022, Nature Medicine.

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies

A. Cideciyan, S. Jacobson, E. Zrenner, 2008, European Journal of Human Genetics.

Analysis of phosducin as a candidate gene for retinopathies.

S. Jacobson, K. Fujiki, M. Hayakawa, 1996, Ophthalmic genetics.

Whole exome sequencing identifies mutations in LRIT3 as a cause for autosomal recessive complete congenital stationary night blindness

Xavier Zanlonghi, Christian P. Hamel, Samuel G. Jacobson, 2013 .

Imaging Lenticular Autofluorescence in Older Subjects

A. V. Cideciyan, A. Cideciyan, S. Jacobson, 2017, Investigative ophthalmology & visual science.

Imaging Lenticular Autofluorescence in Older Subjects

A. V. Cideciyan, A. Cideciyan, S. Jacobson, 2017, Investigative ophthalmology & visual science.

Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations.

A. J. Roman, T. Aleman, S. Kaushal, 2008, Investigative ophthalmology & visual science.

Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.

A. Cideciyan, S. Jacobson, A. Milam, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Retina Intervisit Variability of Visual Parameters in Leber Congenital Amaurosis Caused by RPE 65 Mutations

A. J. Roman, A. Cideciyan, S. Schwartz, 2013 .

Normal central retinal function and structure preserved in retinitis pigmentosa.

A. J. Roman, T. Aleman, A. Cideciyan, 2010, Investigative ophthalmology & visual science.

Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration.

A. Cideciyan, S. Jacobson, A. Milam, 2000, Ophthalmology.

Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front.

A. Cideciyan, S. Schwartz, S. Jacobson, 2015, Investigative ophthalmology & visual science.

Morphological findings in retinitis pigmentosa with early diffuse rod dysfunction.

S. Jacobson, G. Tucker, 1988, Retina.

Abnormal thickening as well as thinning of the photoreceptor layer in intermediate age-related macular degeneration.

A. Cideciyan, S. Jacobson, J. Steinberg, 2013, Investigative ophthalmology & visual science.

The Enhanced S Cone Syndrome: An Analysis of Receptoral and Post-receptoral Changes

A. Cideciyan, S. Jacobson, B. Spehar, 1996, Vision Research.

Toxicity and Efficacy Evaluation of an Adeno-Associated Virus Vector Expressing Codon-Optimized RPGR Delivered by Subretinal Injection in a Canine Model of X-linked Retinitis Pigmentosa

A. Cideciyan, S. Jacobson, G. Ying, 2020 .

Region but Splice Defects in Two Families

P. Sieving, S. Jacobson, R. Fujita, 2006 .

Image analysis of the tapetal-like reflex in carriers of X-linked retinitis pigmentosa.

A. Cideciyan, S. Jacobson, 1994, Investigative ophthalmology & visual science.

Sites of disease action in a retinal dystrophy with supernormal and delayed rod electroretinogramb-waves

A. Cideciyan, S. Jacobson, D. Hood, 1996, Vision Research.

Automated Light- and Dark-Adapted Perimetry for Evaluating Retinitis Pigmentosa: Filling a Need to Accommodate Multicenter Clinical Trials.

A. V. Cideciyan, A. J. Roman, A. Cideciyan, 2016, Investigative ophthalmology & visual science.

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.

Ivana K. Kim, G. Abecasis, J. Haines, 2014, Human molecular genetics.

Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

Colin A. Johnson, S. Jacobson, Rebecca K. Chance, 2009, American journal of human genetics.

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

S. Jacobson, C. Cremers, D. Corey, 1996, American journal of human genetics.

for retinopathies Analysis of phosducin as a candidate gene

S. Jacobson, K. Fujiki, M. Hayakawa, 1996 .

Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity.

S. Jacobson, M. Marmor, R. Weleber, 1990, American journal of ophthalmology.

Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.

V. Sheffield, S. Jacobson, G. Fishman, 2000, Investigative ophthalmology & visual science.

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

P. Sieving, S. Jacobson, R. Salati, 2022, Human mutation.

CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.

S. Jacobson, G. Fishman, D. Farber, 2001, Investigative ophthalmology & visual science.

SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa

T. Aleman, A. Cideciyan, S. Schwartz, 2016, Ophthalmic genetics.

Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report

A. J. Roman, A. Cideciyan, S. Jacobson, 2021, Nature Medicine.

Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290.

J. J. McAnany, S. Jacobson, G. Fishman, 2013, JAMA ophthalmology.

Mutations in the CRB1 gene cause Leber congenital amaurosis.

V. Sheffield, S. Jacobson, A. Fulton, 2001, Archives of ophthalmology.

Visual acuity development in tyrosinase negative oculocutaneous albinism

R. Held, S. Jacobson, T. Dryja, 1984, Documenta Ophthalmologica.

Durable Vision Improvement Following a Single Treatment with Antisense Oligonucleotide Sepofarsen: a Case Report

A. Cideciyan, S. Jacobson, A. Ho, 2021 .

Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial

A. J. Roman, A. Cideciyan, S. Jacobson, 2020, Translational Vision Science & Technology.

Developing an Outcome Measure With High Luminance for Optogenetics Treatment of Severe Retinal Degenerations and for Gene Therapy of Cone Diseases

A. J. Roman, S. Nirenberg, A. Cideciyan, 2016, Investigative ophthalmology & visual science.

Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis

A. J. Roman, A. Cideciyan, S. Jacobson, 2022, BMC Ophthalmology.

Gene therapy for rare diseases: summary of a National Institutes of Health workshop, September 13, 2012.

B. Byrne, S. Jacobson, K. Cornetta, 2013, Human gene therapy.

Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells

A. J. Roman, A. Cideciyan, S. Jacobson, 2017, Investigative ophthalmology & visual science.

Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1

S. Jacobson, V. Marino, K. Koch, 2016, Human molecular genetics.

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

A. Cideciyan, S. Jacobson, B. Lorenz, 2022, Proceedings of the National Academy of Sciences of the United States of America.

Reserpine maintains photoreceptor survival in retinal ciliopathy by resolving proteostasis imbalance and ciliogenesis defects

Hyun Beom Song, K. Nagashima, S. Jacobson, 2022, medRxiv.

Title Changes in the retinal inner limiting membrane associated withValsalva retinopathy

T. Aleman, A. Cideciyan, S. Jacobson, 2007 .

Night vision restored in days after decades of congenital blindness

A. J. Roman, A. Cideciyan, S. Boye, 2022, iScience.

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

N. de Leeuw, U. Surti, A. Pagnamenta, 2016, American journal of human genetics.

Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy.

V. Sheffield, A. Cideciyan, S. Jacobson, 2002, Archives of ophthalmology.

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

A. J. Roman, A. Cideciyan, S. Jacobson, 2017, Genes.

Intravitreal Sepofarsen for Leber Congenital Amaurosis Type 10 (LCA10)

A. J. Roman, Ian C. Han, A. Cideciyan, 2020 .

Late-onset retinal degeneration caused by C1QTNF5 mutation: sub-retinal pigment epithelium deposits and visual consequences.

A. J. Roman, A. Cideciyan, S. Jacobson, 2014, JAMA ophthalmology.

The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65

K. Steel, T. Aleman, S. Jacobson, 2011, Human molecular genetics.

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) required for maintenance of the mammalian photoreceptor.

S. Scherer, L. Tsui, S. Jacobson, 1997 .

Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene ( CRX ) Essential for Maintenance of the Photoreceptor

Stephen W Scherer, Cheryl Y Gregory-Evans, James Bellingham, 1997, Cell.

Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the β-subunit of transducin with digenic disease

S. Jacobson, D. Farber, Yong-Qing Gao, 2007, Molecular vision.

Mutations in the Cone-Rod Homeobox Gene Are Associated with the Cone-Rod Dystrophy Photoreceptor Degeneration

P. Sieving, D. Zack, S. Jacobson, 1997, Neuron.

Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations

A. V. Cideciyan, A. Cideciyan, S. Jacobson, 2022, Investigative ophthalmology & visual science.

A homozygous PDE6B mutation in a family with autosomal recessive retinitis pigmentosa.

S. Jacobson, D. Farber, M. Danciger, 1996, Molecular vision.

Blue Cone Monochromacy: Visual Function and Efficacy Outcome Measures for Clinical Trials

A. V. Cideciyan, A. J. Roman, A. Cideciyan, 2015, PloS one.

Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel.

A. V. Cideciyan, A. J. Roman, W. Hauswirth, 2010, Human gene therapy.

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II

S. Jacobson, X. Liu, D. Yan, 2009, Journal of Human Genetics.

Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.

A. V. Cideciyan, S. Brodie, A. Cideciyan, 2018, American journal of ophthalmology.

A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration

A. V. Cideciyan, A. Cideciyan, S. Jacobson, 2019, The Journal of Biological Chemistry.

Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial

A. V. Cideciyan, A. J. Roman, A. Cideciyan, 2023, Translational vision science & technology.

Lifespan and mitochondrial control of neurodegeneration

A. V. Cideciyan, A. J. Roman, A. Cideciyan, 2004, Nature Genetics.

BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure

A. V. Cideciyan, W. Hauswirth, A. Cideciyan, 2018, Proceedings of the National Academy of Sciences.

Dark- and light-adapted visual evoked cortical potentials in retinitis pigmentosa

S. Jacobson, R. Knighton, R. Levene, 1985, Documenta Ophthalmologica.

Registration of high-resolution images of the retina

Joachim H. Nagel, Samuel G. Jacobson, Robert W. Knighton, 1992, Medical Imaging.

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

J. Lupski, P. Gouras, P. Sieving, 2005, Human molecular genetics.

Foveal cone electroretinograms in strabismic amblyopia: comparison with juvenile macular degeneration, macular scars, and optic atrophy.

S. Jacobson, M. Sandberg, E. Berson, 1979, Transactions of the ophthalmological societies of the United Kingdom.

Retina Automated Light-and Dark-Adapted Perimetry for Evaluating Retinitis Pigmentosa : Filling a Need to Accommodate Multicenter Clinical Trials

A. V. Cideciyan, A. J. Roman, A. Cideciyan, 2016 .

Evaluation of eyes with stage-5 retinopathy of prematurity

S. Jacobson, J. Flynn, J. Clarkson, 2005, Graefe's Archive for Clinical and Experimental Ophthalmology.

Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide‐gated channel

S. Jacobson, A. Plomp, A. Janecke, 2010, Human mutation.

Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene

Omar H. Butt, A. V. Cideciyan, A. J. Roman, 2017, Investigative ophthalmology & visual science.

Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis.

Krzysztof Palczewski, Jean Bennett, A. V. Cideciyan, 2004, Investigative ophthalmology & visual science.

Cone-mediated retinal function in cats during development

K. Ruddock, S. Jacobson, H. Ikeda, 2004, Documenta Ophthalmologica.

Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology.

A. V. Cideciyan, A. J. Roman, A. Cideciyan, 2021, EBioMedicine.

Short-Wavelength Sensitive Cone (S-cone) Testing as an Outcome Measure for NR2E3 Clinical Treatment Trials

A. V. Cideciyan, A. J. Roman, A. Cideciyan, 2019, International journal of molecular sciences.

REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival

A. V. Cideciyan, K. Nagashima, A. Cideciyan, 2017, Human molecular genetics.

Defective photoreceptor phagocytosis in a mouse model of enhanced S‐cone syndrome causes progressive retinal degeneration

A. V. Cideciyan, A. J. Roman, M. Adams, 2011, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development.

A. V. Cideciyan, T. Aleman, A. Cideciyan, 2006, Human molecular genetics.

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

A. V. Cideciyan, T. Aleman, A. Cideciyan, 2004, Human mutation.

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.

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate

Jean Bennett, Val C. Sheffield, Edwin M. Stone, 2000, Nature Genetics.

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

A. V. Cideciyan, R. Carr, D. Zack, 1998, Investigative ophthalmology & visual science.

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.

A. V. Cideciyan, A. Cideciyan, S. Schwartz, 2013, Human gene therapy.

The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration

A. V. Cideciyan, V. Sheffield, T. Aleman, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Augmented rod bipolar cell function in partial receptor loss: an ERG study in P23H rhodopsin transgenic and aging normal rats

A. V. Cideciyan, T. Aleman, A. Cideciyan, 2001, Vision Research.

Modeling ciliogenesis in Leber congenital amaurosis using fibroblasts from patients with CEP290 mutations

S. Jacobson, A. Swaroop, B. Brooks, 2016 .

Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.

T. Aleman, S. Jacobson, G. Fishman, 2010, Ophthalmology.

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

P. Sieving, S. Jacobson, R. Salati, 2005, European Journal of Human Genetics.

CNGA3 mutations in hereditary cone photoreceptor disorders.

S. Jacobson, R. Salati, L. Sharpe, 2001, American journal of human genetics.

Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence.

A. V. Cideciyan, Daniel Gibbs, A. Cideciyan, 2009, Investigative ophthalmology & visual science.

Visual Function and Central Retinal Structure in Choroideremia.

A. V. Cideciyan, A. Cideciyan, S. Jacobson, 2016, Investigative ophthalmology & visual science.

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

S. Jacobson, D. Vollrath, Yun Li, 2000, Nature Genetics.

Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa.

S. Jacobson, D. Farber, M. Danciger, 1996, Experimental Eye Research.

In utero gene therapy rescues vision in a murine model of congenital blindness.

T. Aleman, A. Cideciyan, S. Jacobson, 2004, Molecular therapy : the journal of the American Society of Gene Therapy.

Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations.

T. Aleman, A. Cideciyan, S. Schwartz, 2007, Journal of the Optical Society of America. A, Optics, image science, and vision.

In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa.

Alexander Sumaroka, T. Aleman, A. Cideciyan, 2005, Proceedings of the National Academy of Sciences of the United States of America.

The distribution and kinetics of visual pigments in the cat retina.

C. M. Kemp, S. Jacobson, D. Faulkner, 1988, Investigative ophthalmology & visual science.

Rhodopsin levels and rod-mediated function in Abyssinian cats with hereditary retinal degeneration.

C. M. Kemp, S. Jacobson, K. Narfström, 1989, Experimental eye research.

Rhodopsin levels and retinal function in cats during recovery from vitamin A deficiency.

C. M. Kemp, S. Jacobson, F. Borruat, 1989, Experimental eye research.

Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa

T. Aleman, A. Cideciyan, S. Jacobson, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Calcium channel blocker D-cis-diltiazem does not slow retinal degeneration in the PDE6B mutant rcd1 canine model of retinitis pigmentosa.

T. Aleman, S. Jacobson, G. Acland, 2001, Molecular vision.

Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa

A. Cideciyan, S. Jacobson, E. Banin, 1997, Nature Biotechnology.

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

S. Jacobson, B. Koop, D. Birch, 2000, Nature Genetics.

Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives

A. Cideciyan, S. Jacobson, G. Aguirre, 2019, Progress in Retinal and Eye Research.

Exon screening of the genes encoding the β- and γ-subunits of cone transducin in patients with inherited retinal disease

S. Jacobson, G. Fishman, J. Heckenlively, 1998 .

Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector

W. Hauswirth, A. Cideciyan, S. Jacobson, 2018, Proceedings of the National Academy of Sciences.

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

Adam P. DeLuca, V. Sheffield, S. Jacobson, 2011, Proceedings of the National Academy of Sciences.

An analysis of allelic variation in the ABCA4 gene.

V. Sheffield, S. Jacobson, T. Casavant, 2001, Investigative ophthalmology & visual science.

Probing Mechanisms of Photoreceptor Degeneration in a New Mouse Model of the Common Form of Autosomal Dominant Retinitis Pigmentosa due to P23H Opsin Mutations*♦

A. J. Roman, A. Cideciyan, S. Jacobson, 2011, The Journal of Biological Chemistry.

Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis.

A. J. Roman, W. Hauswirth, T. Aleman, 2007, Molecular vision.

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

V. Sheffield, R. Carr, S. Jacobson, 2000, Archives of ophthalmology.

Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.

J. Ott, T. Aleman, A. Cideciyan, 1999, Investigative ophthalmology & visual science.

Retinal optogenetic therapies: clinical criteria for candidacy

A. Cideciyan, S. Jacobson, A. Sumaroka, 2013, Clinical genetics.

Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis.

A. J. Roman, W. Hauswirth, T. Aleman, 2006, Human gene therapy.

Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness.

W. Hauswirth, T. Aleman, A. Cideciyan, 2005, Molecular therapy : the journal of the American Society of Gene Therapy.

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

S. Jacobson, T. de Ravel, B. Lorenz, 2019, Human mutation.

Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.

A. J. Roman, A. Cideciyan, S. Schwartz, 2015, Ophthalmology.

Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel

S. Jacobson, L. Sharpe, E. Zrenner, 1998, Nature Genetics.

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

Olivier Poch, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, 2012, American journal of human genetics.

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

T. Léveillard, J. Sahel, S. Jacobson, 2009, American journal of human genetics.

Improvement and decline in vision with gene therapy in childhood blindness.

A. J. Roman, W. Hauswirth, A. Cideciyan, 2015, The New England journal of medicine.

Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement

Alexander Sumaroka, Artur V. Cideciyan, Samuel G. Jacobson, 2013, Proceedings of the National Academy of Sciences.

Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa.

S. Jacobson, J. Heckenlively, D. Farber, 1995, Genomics.

CDHR1 mutations in retinal dystrophies

S. Jacobson, E. Zrenner, K. Stingl, 2017, Scientific Reports.

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

S. Jacobson, T. Strom, T. Rosenberg, 2016, PloS one.

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

Val C. Sheffield, Edwin M. Stone, Anne B. Fulton, 2002, Nature Genetics.

Gene therapy restores vision in a canine model of childhood blindness

Jean Bennett, Artur V. Cideciyan, Samuel G. Jacobson, 2001, Nature 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 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.

Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11.

S. Jacobson, L. Sharpe, E. Zrenner, 1998, Genomics.

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.

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population

Steve D. M. Brown, S. Jacobson, X. Liu, 2005, Human Genetics.

Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection.

A. J. Roman, W. Hauswirth, T. Aleman, 2006, Molecular therapy : the journal of the American Society of Gene Therapy.

Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C.

T. Aleman, S. Jacobson, E. Stone, 2009, Investigative ophthalmology & visual science.

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

S. Jacobson, C. Cremers, W. Reardon, 2000, American journal of human genetics.

De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa.

T. Aleman, A. Cideciyan, S. Schwartz, 2003, Investigative ophthalmology & visual science.

Melatonin delays photoreceptor degeneration in the rds/rds mouse

T. Aleman, A. Cideciyan, S. Jacobson, 2001, Neuroreport.

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

V. Sheffield, D. Zack, S. Jacobson, 1998, Nature Genetics.

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.

S. Jacobson, M. Othman, D. Vollrath, 2002, American journal of human genetics.

Translational Retinal Research and Therapies

P. Sieving, J. Sahel, A. Cideciyan, 2018, Translational vision science & technology.

New Developments in Vision Research Translational Retinal Research and Therapies

Artur, P. Sieving, J. Sahel, 2018 .

Treatment possibilities for retinitis pigmentosa.

A. Cideciyan, S. Jacobson, 2010, The New England journal of medicine.

Retinal Rod Photoreceptor–Specific Gene Mutation Perturbs Cone Pathway Development

T. Aleman, A. Cideciyan, S. Jacobson, 1999, Neuron.

Pattern of retinal dysfunction in acute zonal occult outer retinopathy.

A. Cideciyan, S. Jacobson, A. Milam, 1995, Ophthalmology.

Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization

T. Aleman, A. Cideciyan, S. Schwartz, 2009, Molecular vision.

Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degeneration.

A. Cideciyan, S. Jacobson, A. Lennon, 2006, Advances in experimental medicine and biology.

Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man

T. Aleman, A. Cideciyan, S. Jacobson, 2000, Visual Neuroscience.

Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision

A. Cideciyan, S. Jacobson, 2019, Investigative ophthalmology & visual science.

RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.

A. J. Roman, T. Aleman, A. Cideciyan, 2007, Investigative ophthalmology & visual science.

Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate.

T. Aleman, A. Cideciyan, S. Jacobson, 2009, Human molecular genetics.

Human cone photoreceptor dependence on RPE65 isomerase

A. J. Roman, T. Aleman, A. Cideciyan, 2007, Proceedings of the National Academy of Sciences.

Expanded clinical spectrum of enhanced S-cone syndrome.

S. Jacobson, S. Tsang, L. Yannuzzi, 2012, JAMA ophthalmology.

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4

Alfonso Baldi, Val C. Sheffield, Edwin M. Stone, 2001, Nature Genetics.

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

V. Sheffield, S. Jacobson, A. Fulton, 2003, American journal of human genetics.

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

V. Sheffield, S. Jacobson, A. Fulton, 2001, Human molecular genetics.

RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP)

E. L. West, A. Cideciyan, S. Jacobson, 2020, Human molecular genetics.

Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations.

Paul D. Gamlin, W. Hauswirth, A. Cideciyan, 2017, Molecular therapy : the journal of the American Society of Gene Therapy.

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.

A. J. Roman, A. Cideciyan, S. Schwartz, 2016, Human molecular genetics.

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

P. Sieving, S. Jacobson, A. Swaroop, 2002, American journal of human genetics.

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.

S. Jacobson, A. D. den Hollander, A. Swaroop, 2012, The Journal of clinical investigation.

AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis.

W. Hauswirth, S. Boye, S. Jacobson, 2013, Human gene therapy.

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.

A. Cideciyan, S. Schwartz, S. Jacobson, 2011, American journal of human genetics.

Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials.

T. Aleman, A. Cideciyan, S. Schwartz, 2012, Investigative ophthalmology & visual science.

The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders.

S. Jacobson, R. Mcinnes, A. Wright, 2010, Annual review of neuroscience.

ABCA4 disease progression and a proposed strategy for gene therapy.

A. J. Roman, T. Aleman, A. Cideciyan, 2009, Human molecular genetics.

Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations.

T. Aleman, A. Cideciyan, S. Schwartz, 2007, Investigative ophthalmology & visual science.

ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina.

T. Aleman, A. Cideciyan, S. Schwartz, 2005, Investigative ophthalmology & visual science.

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.

Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations.

S. Jacobson, G. Fishman, E. Stone, 1999, Investigative ophthalmology & visual science.

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Colin A. Johnson, Michael A. Beer, R. Gibbs, 2009, Nature Genetics.

Vision 1 year after gene therapy for Leber's congenital amaurosis.

Alexander Sumaroka, A. J. Roman, W. Hauswirth, 2009, The New England journal of medicine.

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

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

Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis.

S. Jacobson, D. Bok, A. Aiyar, 2015, Journal of biochemistry.

Rescue of Enzymatic Function for Disease-associated RPE65 Proteins Containing Various Missense Mutations in Non-active Sites*

S. Jacobson, D. Bok, T. Izumi, 2014, The Journal of Biological Chemistry.

Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

S. Jacobson, D. Sharon, K. Stingl, 2019, Human mutation.

Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa.

S. Jacobson, D. Burt, K. Prescott, 2011, Investigative ophthalmology & visual science.

UvA-DARE ( Digital Academic Repository ) Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus ( BBS 1 )

V. Sheffield, S. Jacobson, A. Fulton, 2003 .

Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness.

T. Aleman, A. Cideciyan, S. Jacobson, 2000, Proceedings of the National Academy of Sciences of the United States of America.

Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.

C. M. Davenport, P. Gouras, P. Sieving, 1993, American journal of human genetics.

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.

Automated light- and dark-adapted perimetry for evaluating retinitis pigmentosa.

S. Jacobson, J. Parel, V. M. Patella, 1986, Ophthalmology.

Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.

A. J. Roman, V. Sheffield, T. Aleman, 2006, Investigative ophthalmology & visual science.

Nonhuman primate models for diabetic ocular neovascularization using AAV2-mediated overexpression of vascular endothelial growth factor.

Jean Bennett, Rebecca Grant, T. Aleman, 2005, Diabetes.

Patterns of rod and cone dysfunction in Bardet-Biedl syndrome.

S. Jacobson, F. Borruat, P. Apáthy, 1990, American journal of ophthalmology.

Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.

R G Weleber, A. Cideciyan, S. Jacobson, 2000, Investigative ophthalmology & visual science.

Disease Expression of RP 1 Mutations Causing Autosomal Dominant Retinitis Pigmentosa

A. Cideciyan, S. Jacobson, G. Fishman, 2000 .

Foveal cone electroretinograms in retinitis pigmentosa and juvenile maular degeneration.

S. Jacobson, M. Sandberg, E. Berson, 1979, American journal of ophthalmology.

Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.

A. J. Roman, A. Cideciyan, S. Schwartz, 2013, Human molecular genetics.

Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations.

A. J. Roman, A. Cideciyan, S. Schwartz, 2017, American journal of ophthalmology.

A BSTRACT PURPOSE : To determine outcome measures for a clinical trial of Leber congenital amaurosis ( LCA ) associated with mutations in the GUCY 2 D gene

A. J. Roman, A. Cideciyan, S. Schwartz, 2017 .

Shigeo Yoshida, Anand Swaroop, Gonçalo R Abecasis, 2004, American journal of human genetics.

G. Abecasis, P. Sieving, S. Jacobson, 2004 .

In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.

K. Nagashima, A. Cideciyan, S. Jacobson, 2017, Cell reports.

QRX, a novel homeobox gene, modulates photoreceptor gene expression.

D. Zack, S. Jacobson, A. Swaroop, 2004, Human molecular genetics.

Canine Retina Has a Primate Fovea-Like Bouquet of Cone Photoreceptors Which Is Affected by Inherited Macular Degenerations

Alexander Sumaroka, Artur V. Cideciyan, Samuel G. Jacobson, 2014, PloS one.

Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21.

T. Matise, J. Ott, S. Jacobson, 1995, American journal of human genetics.

Autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation: retinal histopathology and immunocytochemistry.

S. Jacobson, A. Milam, Z. Y. Li, 1994, Experimental eye research.

Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa.

T. Aleman, S. Jacobson, F. Liang, 2001, Molecular therapy : the journal of the American Society of Gene Therapy.

Stable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retina.

T. Aleman, A. Cideciyan, S. Jacobson, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.

A. J. Roman, T. Aleman, A. Cideciyan, 2007, Investigative ophthalmology & visual science.

Clinicopathologic effects of the Q64ter rhodopsin mutation in retinitis pigmentosa.

A. Cideciyan, S. Jacobson, A. Milam, 1996, Investigative ophthalmology & visual science.

Negative electroretinograms in retinitis pigmentosa.

A. Cideciyan, S. Jacobson, 1993, Investigative ophthalmology & visual science.

TULP1 mutation in two extended Dominican kindreds with autosomal recessive Retinitis pigmentosa

J. Ott, S. Jacobson, T. Gilliam, 1998, Nature Genetics.

Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.

A. J. Roman, T. Aleman, A. Cideciyan, 2006, Investigative ophthalmology & visual science.

Relatively enhanced S cone function in the Goldmann-Favre syndrome.

A. J. Roman, S. Jacobson, J. Parker, 1991, American journal of ophthalmology.

Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.

A. Cideciyan, S. Jacobson, A. Milam, 2003, Human molecular genetics.

Enhanced S cone syndrome: Evidence for an abnormally large number of S cones

A. J. Roman, A. Cideciyan, S. Jacobson, 1995, Vision Research.

S cone-driven but not S cone-type electroretinograms in the enhanced S cone syndrome.

A. J. Roman, S. Jacobson, 1991, Experimental eye research.

SWS (blue) cone hypersensitivity in a newly identified retinal degeneration.

C. M. Kemp, S. Jacobson, M. Marmor, 1990, Investigative ophthalmology & visual science.

Concentric retinitis pigmentosa: clinicopathologic correlations.

S. Jacobson, A. Milam, G. Aguirre, 2001, Experimental eye research.

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

C. M. Davenport, P. Gouras, J. Nathans, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa

Hemant Khanna, Alexander Sumaroka, Artur V. Cideciyan, 2012, Proceedings of the National Academy of Sciences.

Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations

A. Cideciyan, S. Jacobson, G. Aguirre, 2022, Vision Research.

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

S. Jacobson, M. McKibbin, A. Lotery, 2009, 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.

Allelic Variation in the VMD 2 Gene in Best Disease and Age-Related Macular Degeneration

V. Sheffield, S. Jacobson, G. Fishman, 2000 .

Measures of Function and Structure to Determine Phenotypic Features, Natural History, and Treatment Outcomes in Inherited Retinal Diseases.

A. J. Roman, A. Cideciyan, S. Jacobson, 2021, Annual review of vision science.

Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations

A. J. Roman, A. Cideciyan, S. Jacobson, 2020, Scientific Reports.

Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations

A. J. Roman, T. Aleman, A. Cideciyan, 2016, Investigative ophthalmology & visual science.

A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus.

A. Cideciyan, S. Jacobson, X. Guillonneau, 1999, Human molecular genetics.

Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.

A. Cideciyan, S. Jacobson, A. Milam, 1997, Investigative ophthalmology & visual science.

Rod plateaux during dark adaptation in Sorsby's fundus dystrophy and vitamin A deficiency.

T. Lamb, A. Cideciyan, S. Jacobson, 1997, Investigative ophthalmology & visual science.

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.

A. J. Roman, K. Steel, T. Aleman, 2008, Human molecular genetics.

Usher syndromes due to MYO 7 A , PCDH 15 , USH 2 A or GPR 98 mutations share retinal disease mechanism

A. J. Roman, K. Steel, T. Aleman, 2008 .

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.

A. J. Roman, T. Aleman, A. Cideciyan, 2005, Investigative ophthalmology & visual science.

Optic nerve fibre lesions in adult cats: Pattern of recovery of spatial vision

S. Jacobson, W. Mcdonald, R. Eames, 1979, Experimental Brain Research.

Long-Term Structural Outcomes of Late-Stage RPE65 Gene Therapy.

W. Hauswirth, A. Cideciyan, S. Jacobson, 2020, Molecular therapy : the journal of the American Society of Gene Therapy.

Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model.

A. J. Roman, T. Aleman, A. Cideciyan, 2011, Investigative ophthalmology & visual science.

Retinal disease course in Usher syndrome 1B due to MYO7A mutations.

A. J. Roman, T. Aleman, A. Cideciyan, 2011, Investigative ophthalmology & visual science.

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF 15-associated retinal degeneration

A. J. Roman, A. Cideciyan, S. Schwartz, 2018 .

Progression in X-linked Retinitis Pigmentosa Due to ORF15-RPGR Mutations: Assessment of Localized Vision Changes Over 2 Years.

A. J. Roman, A. Cideciyan, S. Jacobson, 2018, Investigative ophthalmology & visual science.

Retina Progression in X-linked Retinitis Pigmentosa Due to ORF 15-RPGR Mutations : Assessment of Localized Vision Changes Over 2 Years

A. J. Roman, A. Cideciyan, S. Jacobson, 2018 .

Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR.

W. Hauswirth, A. Cideciyan, S. Jacobson, 2015, Cold Spring Harbor perspectives in medicine.

RPGR-associated retinal degeneration in human X-linked RP and a murine model.

A. J. Roman, A. Cideciyan, S. Schwartz, 2012, Investigative ophthalmology & visual science.

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.

P. Sieving, S. Jacobson, A. Swaroop, 1997, American journal of human genetics.

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.

P. Sieving, S. Jacobson, A. Swaroop, 1997, American journal of human genetics.

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.

P. Sieving, S. Schwartz, S. Jacobson, 2012, Investigative ophthalmology & visual science.

X-Linked Retinitis Pigmentosa: Current Status

P. Sieving, S. Jacobson, A. Swaroop, 2001 .

Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3.

J. Ott, S. Jacobson, T. Gilliam, 1998, Genomics.

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

V. Sheffield, S. Jacobson, E. Stone, 1995, Ophthalmology.

A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

J. Ott, A. Cideciyan, S. Jacobson, 1998, American journal of human genetics.

Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man.

A. Cideciyan, S. Jacobson, K. Palczewski, 1998, Proceedings of the National Academy of Sciences of the United States of America.

X-linked retinitis pigmentosa: functional phenotype of an RP2 genotype.

A. J. Roman, A. Cideciyan, S. Jacobson, 1992, Investigative ophthalmology & visual science.

Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations.

A. J. Roman, A. Cideciyan, S. Jacobson, 2018, Investigative ophthalmology & visual science.

Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation.

A. J. Roman, C. M. Kemp, J. Nathans, 1992, American journal of ophthalmology.

Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations.

C. M. Kemp, J. Nathans, S. Jacobson, 1991, American journal of ophthalmology.

Visual pigment levels in retinitis pigmentosa.

C. M. Kemp, S. Jacobson, D. Faulkner, 1983, Transactions of the ophthalmological societies of the United Kingdom.

Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.

S. Jacobson, D. Sharon, Z. Guan, 2017, Ophthalmology.

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

I. Chowers, S. Jacobson, A. Swaroop, 2015, Scientific Reports.

Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p.

J. Ott, S. Jacobson, T. Gilliam, 1994, Human molecular genetics.

Foveal Therapy in Blue Cone Monochromacy: Predictions of Visual Potential From Artificial Intelligence

Alexander Sumaroka, Artur V. Cideciyan, Rebecca Sheplock, 2020, Frontiers in Neuroscience.

Retina Blue Cone Monochromacy Caused by the C 203 R Missense Mutation or Large Deletion Mutations

A. J. Roman, A. Cideciyan, S. Jacobson, 2018 .

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

P. Sieving, S. Jacobson, B. Lorenz, 2000, Investigative ophthalmology & visual science.

Full-field stimulus testing: Role in the clinic and as an outcome measure in clinical trials of severe childhood retinal disease

A. J. Roman, A. Cideciyan, S. Jacobson, 2021, Progress in Retinal and Eye Research.

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

V. Sheffield, T. Aleman, A. Cideciyan, 2011, Archives of ophthalmology.

Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease.

S. Jacobson, G. Fishman, J. Heckenlively, 1998, Molecular vision.

Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3.

A. Cideciyan, S. Jacobson, A. Milam, 2003, Investigative ophthalmology & visual science.

An Alternative Phototransduction Model for Human Rod and Cone ERG a-waves: Normal Parameters and Variation with Age

A. Cideciyan, S. Jacobson, ARTUR V. CIDECIYAN, 1996, Vision Research.

Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa.

C. M. Kemp, J. Nathans, A. Cideciyan, 1994, Investigative ophthalmology & visual science.

Predicting the pathogenicity of RPE65 mutations

S. Jacobson, G. Fishman, A. Philp, 2009, Human mutation.

Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene.

C. M. Kemp, V. Sheffield, A. Cideciyan, 1996, Investigative ophthalmology & visual science.

Autoantibodies against retinal bipolar cells in cutaneous melanoma-associated retinopathy.

S. Jacobson, A. Milam, K. Alexander, 1993, Investigative ophthalmology & visual science.

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa.

P. Sieving, S. Jacobson, A. Swaroop, 1999, American journal of human genetics.

X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.

S. Jacobson, A. Swaroop, G. Fishman, 1998, Ophthalmology.

A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration

A. J. Roman, A. Cideciyan, S. Jacobson, 2021, Frontiers in Cell and Developmental Biology.

Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures.

A. J. Roman, T. Aleman, A. Cideciyan, 2005, Experimental eye research.

Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.

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

Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.

A. J. Roman, A. Cideciyan, S. Schwartz, 2015, Investigative ophthalmology & visual science.

Modeling Of High Resolution Digital Retinal Imaging

Joachim H. Nagel, Artur V. Cideciyan, Samuel G. Jacobson, 1991, Proceedings of the Annual International Conference of the IEEE Engineering in Medicine and Biology Society Volume 13: 1991.

Subconjunctivally implantable hydrogels with degradable and thermoresponsive properties for sustained release of insulin to the retina.

T. Aleman, S. Jacobson, T. Gardner, 2009, Biomaterials.

Drusen and Photoreceptor Abnormalities in African-Americans with Intermediate Non-neovascular Age-related Macular Degeneration

A. Cideciyan, S. Jacobson, W. Feuer, 2015, Current eye research.

Macular pigment and lutein supplementation in retinitis pigmentosa and Usher syndrome.

T. Aleman, A. Cideciyan, S. Jacobson, 2001, Investigative ophthalmology & visual science.

Printed in Great Britain NASAL FIELD LOSS IN CATS REARED WITH CONVERGENT SQUINT: BEHAVIOURAL STUDIES BY HISAKO IKEDA AND S. G. JACOBSON

S. Jacobson, H. Ikeda, 2006 .

Behavioural studies of spatial vision in cats reared with convergent squint: Is amblyopia due to arrest of development?

S. Jacobson, H. Ikeda, 1979, Experimental Brain Research.

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.

A. J. Roman, T. Aleman, A. Cideciyan, 2011, Human molecular genetics.

In Vitro Modeling Using Ci liopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP 290 Mutations Graphical

K. Nagashima, A. Cideciyan, S. Jacobson, 2017 .

Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration

A. Cideciyan, S. Jacobson, A. Lennon, 2017, Scientific Reports.

Efficacy Outcome Measures for Clinical Trials of USH2A Caused by the Common c.2299delG Mutation.

A. J. Roman, A. Cideciyan, S. Jacobson, 2018, American journal of ophthalmology.

Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials

A. J. Roman, T. Aleman, A. Cideciyan, 2007, Physiological measurement.

Characterisation of a C1qtnf5 Ser163Arg Knock-In Mouse Model of Late-Onset Retinal Macular Degeneration

S. E. Barker, T. Aleman, S. Jacobson, 2011, PloS one.

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

A. J. Roman, T. Aleman, A. Cideciyan, 2009, Investigative ophthalmology & visual science.

Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.

A. J. Roman, T. Aleman, A. Cideciyan, 2011, Investigative ophthalmology & visual science.

Retinal morphology and visual pigment levels in 6‐and 12‐month‐old rhesus monkeys fed a taurine‐free human infant formula

C. M. Kemp, S. Jacobson, R. Knighton, 1993, Journal of neuroscience research.

Visual acuity of infants with ocular diseases.

R. Held, S. Jacobson, I. Mohindra, 1982, American journal of ophthalmology.

Visual function and rhodopsin levels in humans with vitamin A deficiency.

C. M. Kemp, S. Jacobson, D. Faulkner, 1988, Experimental eye research.

Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations.

A. J. Roman, A. Cideciyan, S. Schwartz, 2014, Investigative ophthalmology & visual science.

Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations.

A. J. Roman, A. Cideciyan, S. Jacobson, 2018, Investigative ophthalmology & visual science.

Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.

P. Sieving, S. Jacobson, A. Swaroop, 2003, Molecular vision.

Centrosomal‐ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

T. Aleman, A. Cideciyan, S. Schwartz, 2007, Human mutation.

Rod mediated retinal dysfunction in cats with zinc depletion: comparison with taurine depletion.

S. Jacobson, R. P. Thompson, P. Keeling, 1986, Clinical science.

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.

T. Aleman, S. Jacobson, J. Duncan, 2021, Investigative ophthalmology & visual science.

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis

Jeremy Nathans, J. Nathans, S. Jacobson, 2001, Human mutation.

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

A. J. Roman, Ian C. Han, A. Cideciyan, 2018, Nature Medicine.

Monocular visual form deprivation in human infants

R. Held, S. Jacobson, I. Mohindra, 1983, Documenta Ophthalmologica.

Retina Cone Vision Changes in the Enhanced SCone Syndrome Caused by NR 2 E 3 Gene Mutations

A. J. Roman, A. Cideciyan, S. Jacobson, 2018 .

Macular Rod Function in Retinitis Pigmentosa Measured With Scotopic Microperimetry

A. J. Roman, A. Cideciyan, S. Jacobson, 2021, Translational vision science & technology.

Autosomal Dominant Retinitis Pigmentosa Due to Class B Rhodopsin Mutations: An Objective Outcome for Future Treatment Trials

A. Cideciyan, S. Jacobson, A. Sumaroka, 2019, International journal of molecular sciences.

Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.

A. Cideciyan, S. Jacobson, G. Aguirre, 2016, Human molecular genetics.

Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations.

A. Cideciyan, S. Schwartz, S. Jacobson, 2016, Investigative ophthalmology & visual science.

Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast

A. J. Roman, A. Cideciyan, S. Schwartz, 2015, BMC Ophthalmology.

Autofluorescence imaging with near-infrared excitation:normalization by reflectance to reduce signal from choroidal fluorophores.

A. Cideciyan, S. Jacobson, M. Świder, 2015, Investigative ophthalmology & visual science.

Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.

A. J. Roman, T. Aleman, A. Cideciyan, 2009, Investigative ophthalmology & visual science.

Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins.

S. Jacobson, D. Bok, Songhua Li, 2016, Advances in experimental medicine and biology.

Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept.

A. J. Roman, W. Hauswirth, T. Aleman, 2012, Human gene therapy.

Gene Therapy Reforms Photoreceptor Structure and Restores Vision in NPHP5-associated Leber Congenital Amaurosis

W. Hauswirth, A. Cideciyan, S. Boye, 2020, bioRxiv.

Improvement in vision: a new goal for treatment of hereditary retinal degenerations

A. J. Roman, W. Hauswirth, A. Cideciyan, 2015, Expert opinion on orphan drugs.

Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations.

A. J. Roman, W. Hauswirth, T. Aleman, 2010, Investigative ophthalmology & visual science.

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.

T. Aleman, A. Cideciyan, S. Schwartz, 2008, Investigative ophthalmology & visual science.

A novel RDS/peripherin gene mutation associated with diverse macular phenotypes

D. Zack, S. Jacobson, Zhenglin Yang, 2004, Ophthalmic genetics.

Photoreceptor function in patients with heterozygous peripherin/RDS gene mutations

D. F. G. Azevedo, C. M. Kemp, V. Sheffield, 1995 .

Dose Range Finding Studies with Two RPGR Transgenes in a Canine Model of X-linked Retinitis Pigmentosa Treated with Subretinal Gene Therapy.

A. Cideciyan, S. Jacobson, G. Aguirre, 2020, Human Gene Therapy.

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.

Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations

A. J. Roman, A. Cideciyan, S. Boye, 2021, iScience.

Lentiviral Expression of Retinal Guanylate Cyclase-1 (RetGC1) Restores Vision in an Avian Model of Childhood Blindness

Melissa L. Williams, T. Aleman, A. Cideciyan, 2006, PLoS medicine.

Retinal Disease in Rpe 65-Deficient Mice : Comparison to Human Leber Congenital Amaurosis Due to RPE 65 Mutations

A. J. Roman, W. Hauswirth, T. Aleman, 2010 .

Retina Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells

A. J. Roman, A. Cideciyan, S. Jacobson, 2017 .

A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy.

T. Aleman, A. Cideciyan, S. Jacobson, 2000, Molecular vision.

Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function

A. J. Roman, A. Cideciyan, S. Jacobson, 2020, Vision Research.

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene.

A. J. Roman, A. Cideciyan, S. Schwartz, 2017, Investigative ophthalmology & visual science.

Retinal Structure Measurements as Inclusion Criteria for Stem Cell-Based Therapies of Retinal Degenerations.

A. Cideciyan, S. Jacobson, A. Sumaroka, 2016, Investigative ophthalmology & visual science.

Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations.

A. J. Roman, A. Cideciyan, S. Schwartz, 2013, Investigative ophthalmology & visual science.

Retina Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP 290 Gene

A. J. Roman, A. Cideciyan, S. Schwartz, 2017 .

Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes.

A. Cideciyan, S. Schwartz, S. Jacobson, 2016, Advances in experimental medicine and biology.

Establishing A Course For AAV-mediated Gene Therapy For Leber Congenital Amaurosis-1 (LCA1)

W. Hauswirth, S. Boye, S. Jacobson, 2012 .

Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.

A. J. Roman, T. Aleman, A. Cideciyan, 2007, Ophthalmology (Rochester, Minn.).

Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa.

A. J. Roman, S. Jacobson, K. Yagasaki, 1989, Experimental eye research.

Ultrastructure of connecting cilia in different forms of retinitis pigmentosa.

S. Jacobson, A. Milam, D. Possin, 1992, Archives of ophthalmology.

Toxicity and Efficacy Evaluation of an AAV Vector Expressing Codon-Optimized RPGR Delivered by Subretinal Injection in a Canine Model of X-linked Retinitis Pigmentosa.

A. Cideciyan, S. Jacobson, G. Ying, 2020, Human gene therapy.

Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.

A. Cideciyan, S. Schwartz, S. Jacobson, 2011, Investigative ophthalmology & visual science.

Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.

Jack R. Davis, S. Jacobson, C. Möller, 2002, American journal of human genetics.

Photoreceptor rosettes with blue cone opsin immunoreactivity in retinitis pigmentosa.

S. Jacobson, A. Milam, Samuel G. Jacobson, 1990, Ophthalmology.

Analysis of DNA elements that modulate myosin VIIA expression in humans

S. Jacobson, M. D. Weston, P. M. Kelley, 1999, Human mutation.

Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease

W. Hauswirth, A. Cideciyan, S. Boye, 2015, Proceedings of the National Academy of Sciences.

Pathological changes in the optic chiasm of the cat following local injection of diphtheria toxin

S. Jacobson, W. Mcdonald, R. Eames, 1977, Journal of the Neurological Sciences.

Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide in CEP290-LCA: Replication in two eyes

A. J. Roman, A. Cideciyan, S. Jacobson, 2023, American journal of ophthalmology case reports.

Retina Pseudo-Fovea Formation After Gene Therapy for RPE 65-LCA

Omar H. Butt, A. J. Roman, W. Hauswirth, 2015 .

Nasal field loss in cats reared with convergent squint: behavioural studies.

S. Jacobson, H. Ikeda, 1977, The Journal of physiology.

Convergent squint arrests the development of spatial vision in cats: behavioural evidence [proceedings].

S. Jacobson, H. Ikeda, 1977, The Journal of physiology.

Behavioural, neurophysiological and morphological evidence for a nasal visual field loss in cats reared with monocular convergent squint [proceedings].

S. Jacobson, H. Ikeda, G. Plant, 1976, The Journal of physiology.

Development of amblyopia in infants.

R. Held, S. Jacobson, I. Mohindra, 1979, Transactions of the ophthalmological societies of the United Kingdom.

Cutaneous melanoma associated retinopathy (MAR)

S. Jacobson, A. Milam, L. Feun, 1992 .

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.

A. J. Roman, T. Aleman, A. Cideciyan, 2008, Investigative ophthalmology & visual science.

The spectral reflectance of the nerve fiber layer of the macaque retina.

C. M. Kemp, S. Jacobson, R. Knighton, 1989, Investigative ophthalmology & visual science.

Cone-Rod Dystrophy: Phenotypic Diversity by Retinal Function Testing

S. Jacobson, K. Yagasaki, 1989 .

Phase I Trial of Leber Congenital Amaurosis due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results

W. Hauswirth, T. Aleman, S. Kaushal, 2008 .

Rhodopsin levels in the central retinas of normal miniature poodles and those with progressive rod-cone degeneration.

C. M. Kemp, S. Jacobson, 1992, Experimental eye research.

Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to CEP290 Mutation: Determining the Timing and Expectation of Therapy

A. J. Roman, W. Hauswirth, A. Cideciyan, 2014, PloS one.

Severe diffuse lamellar keratitis after femtosecond lamellar keratectomy

T. Aleman, A. Cideciyan, S. Jacobson, 2007, British Journal of Ophthalmology.

Rhodopsin Gene Mutations Causing Retinitis Pigmentosa

C. M. Kemp, J. Nathans, A. Cideciyan, 1995 .

BBS genotype–phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

S. Jacobson, G. Fishman, J. Duncan, 2011, Human mutation.

Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function

A. J. Roman, A. Cideciyan, S. Jacobson, 2021, International Journal of Molecular Sciences.

Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration.

S. E. Barker, T. Aleman, S. Jacobson, 2011, PloS one.

Psychophysical assessment of visual acuity in infants with visual disorders

R. Held, S. Jacobson, I. Mohindra, 1983, Behavioural Brain Research.

Visual acuity of the cat

W. I. McDonald, S. Jacobson, W. Mcdonald, 1976, Vision Research.

Computer-aided analysis in automated dark-adapted static perimetry

Samuel G. Jacobson, Robert W. Knighton, Peter P. Apáthy, 1987 .

Development of visual acuity in infants with congenital cataracts.

R Held, R. Held, S. Jacobson, 1981, The British journal of ophthalmology.

Blinded by the light

S. Jacobson, R. Mcinnes, 2002, Nature Genetics.

Improvement and decline in vision with gene therapy in childhood blindness.

A. J. Roman, W. Hauswirth, A. Cideciyan, 2015, The New England journal of medicine.

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

A. J. Roman, T. Aleman, A. Cideciyan, 2009, Investigative ophthalmology & visual science.

Late-onset retinal degeneration caused by C1QTNF5 mutation: sub-retinal pigment epithelium deposits and visual consequences.

A. J. Roman, A. Cideciyan, S. Jacobson, 2014, JAMA ophthalmology.

Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa

T. Aleman, A. Cideciyan, S. Jacobson, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Retinal disease course in Usher syndrome 1B due to MYO7A mutations.

A. J. Roman, T. Aleman, A. Cideciyan, 2011, Investigative ophthalmology & visual science.

Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate.

T. Aleman, A. Cideciyan, S. Jacobson, 2009, Human molecular genetics.

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

A. J. Roman, T. Aleman, A. Cideciyan, 2009, Investigative ophthalmology & visual science.

The distribution and kinetics of visual pigments in the owl monkey retina.

C. M. Kemp, S. Jacobson, 1991, Experimental eye research.

Rod and cone psychophysics and electroretinography: Methods for comparison in retinal degenerations

S. Jacobson, R. Knighton, K. Yagasaki, 1988, Documenta Ophthalmologica.

In Vivo Dark-field Imaging of the Retinal Pigment Epithelium Cell Mosaic References

D. M. Tait, T. Aleman, S. Jacobson, 2022 .

Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial

A. J. Roman, A. Cideciyan, S. Jacobson, 2022, Ophthalmology science.

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene.

A. J. Roman, A. Cideciyan, S. Schwartz, 2017, Investigative ophthalmology & visual science.

Optical coherence tomography (OCT) abnormalities in rhodopsin mutant transgenic swine with retinal degeneration.

T. Aleman, A. Cideciyan, S. Jacobson, 2000, Experimental eye research.

Visual Function and Central Retinal Structure in Choroideremia.

A. Cideciyan, S. Jacobson, E. Héon, 2016, Investigative ophthalmology & visual science.

Expanded clinical spectrum of enhanced S-cone syndrome.

S. Jacobson, S. Tsang, L. Yannuzzi, 2013, JAMA ophthalmology.

Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations.

Paul D. Gamlin, W. Hauswirth, A. Cideciyan, 2017, Molecular therapy : the journal of the American Society of Gene Therapy.

Electroretinogram Below b-Wave Threshold in the Cat: Studies of Retinal Development and Retinal Degeneration

S. Jacobson, H. Ikeda, 1983 .

Efficacy Outcome Measures for Clinical Trials of USH2A Caused by the Common c.2299delG Mutation.

A. J. Roman, A. Cideciyan, S. Jacobson, 2018, American journal of ophthalmology.

Specular Reflection From The Surface Of The Retina

Samuel G. Jacobson, Robert W. Knighton, Marisa I. Roman, 1989, Photonics West - Lasers and Applications in Science and Engineering.

associated with Valsalva retinopathy Changes in the retinal inner limiting membrane

T. Aleman, A. Cideciyan, S. Jacobson, 2007 .

Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation–Effect of an ALG6 Modifier Variant

A. J. Roman, A. Cideciyan, S. Jacobson, 2024, International journal of molecular sciences.

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.

A. J. Roman, A. Cideciyan, S. Schwartz, 2018, Human molecular genetics.