Samuel G. Jacobson
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Engineering Computer Science
Samuel G. Jacobson's Degrees
- PhD Computer Science Stanford University
- Masters Electrical Engineering University of California, Berkeley
- Bachelors Computer Engineering University of California, Berkeley
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(Suggest an Edit or Addition)Samuel G. Jacobson's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Gene therapy restores vision in a canine model of childhood blindness (2001) (1172)
- 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. (2008) (942)
- Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics (2008) (687)
- Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa (2000) (656)
- Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. (2012) (598)
- Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene ( CRX ) Essential for Maintenance of the Photoreceptor (1997) (545)
- Rhodopsin mutations in autosomal dominant retinitis pigmentosa. (1991) (482)
- Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate (2000) (463)
- 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. (2005) (461)
- Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement (2013) (402)
- Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome (2002) (354)
- Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year. (2009) (336)
- Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel (1998) (333)
- Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness (2000) (332)
- Improvement and decline in vision with gene therapy in childhood blindness. (2015) (322)
- CNGA3 mutations in hereditary cone photoreceptor disorders. (2001) (295)
- De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis (1998) (290)
- Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa (1997) (283)
- A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies (2009) (275)
- Automated light- and dark-adapted perimetry for evaluating retinitis pigmentosa. (1986) (273)
- Identification of the gene that, when mutated, causes the human obesity syndrome BBS4 (2001) (270)
- Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). (2001) (268)
- Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. (1998) (267)
- Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success (2005) (267)
- Psychophysical evidence for rod vulnerability in age-related macular degeneration. (2000) (265)
- Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. (2000) (263)
- Mutations in the Cone-Rod Homeobox Gene Are Associated with the Cone-Rod Dystrophy Photoreceptor Degeneration (1997) (261)
- Stable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retina. (1999) (256)
- Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. (2002) (246)
- Relation of optical coherence tomography to microanatomy in normal and rd chickens. (1998) (242)
- Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa (2012) (240)
- Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. (2000) (240)
- Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence. (2004) (237)
- Mutations in the CRB1 gene cause Leber congenital amaurosis. (2001) (236)
- Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. (2003) (231)
- A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. (2002) (229)
- Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa. (2001) (223)
- TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. (2009) (223)
- CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia (2005) (222)
- Vision 1 year after gene therapy for Leber's congenital amaurosis. (2009) (218)
- Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection. (2006) (215)
- Autoantibodies against retinal bipolar cells in cutaneous melanoma-associated retinopathy. (1993) (212)
- Probing Mechanisms of Photoreceptor Degeneration in a New Mouse Model of the Common Form of Autosomal Dominant Retinitis Pigmentosa due to P23H Opsin Mutations*♦ (2011) (211)
- The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration (2002) (211)
- An analysis of allelic variation in the ABCA4 gene. (2001) (210)
- 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 (2011) (207)
- In utero gene therapy rescues vision in a murine model of congenital blindness. (2004) (203)
- Night blindness in Sorsby's fundus dystrophy reversed by vitamin A (1995) (195)
- In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa. (2005) (183)
- 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. (2003) (179)
- Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa (2002) (171)
- The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders. (2010) (171)
- ABCA4 disease progression and a proposed strategy for gene therapy. (2009) (171)
- Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. (1990) (170)
- Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations. (1991) (167)
- Mutation analysis of 3 genes in patients with Leber congenital amaurosis. (2000) (166)
- Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease (2013) (160)
- Macular pigment and lutein supplementation in retinitis pigmentosa and Usher syndrome. (2001) (159)
- Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. (2009) (159)
- Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man. (1998) (157)
- Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect (2018) (157)
- Autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation: retinal histopathology and immunocytochemistry. (1994) (153)
- Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. (2006) (152)
- Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. (2000) (152)
- Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis. (2006) (151)
- TULP1 mutation in two extended Dominican kindreds with autosomal recessive Retinitis pigmentosa (1998) (151)
- Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. (2002) (145)
- Early age-related maculopathy and self-reported visual difficulty in daily life. (2002) (145)
- Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing (2013) (143)
- Human cone photoreceptor dependence on RPE65 isomerase (2007) (142)
- Centrosomal‐ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis (2007) (141)
- Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations. (2007) (139)
- Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. (1993) (138)
- Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures. (2005) (138)
- SWS (blue) cone hypersensitivity in a newly identified retinal degeneration. (1990) (135)
- Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa. (2000) (131)
- Negative electroretinograms in retinitis pigmentosa. (1993) (130)
- Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations. (2008) (124)
- Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). (2003) (123)
- Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. (1998) (122)
- Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. (2006) (122)
- Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. (1995) (121)
- An Alternative Phototransduction Model for Human Rod and Cone ERG a-waves: Normal Parameters and Variation with Age (1996) (121)
- In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development. (2006) (120)
- Age-Related Macular Degeneration: A High-Resolution Genome Scan for Susceptibility Loci in a Population Enriched for Late-Stage Disease (2004) (120)
- Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population (2005) (119)
- Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. (2013) (117)
- A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. (2011) (116)
- ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina. (2005) (116)
- Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. (2009) (115)
- Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. (1996) (115)
- 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. (2011) (114)
- Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. (2012) (114)
- Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa. (1989) (114)
- Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome (2004) (111)
- Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. (2010) (111)
- Pattern of retinal dysfunction in acute zonal occult outer retinopathy. (1995) (111)
- IQCB1 mutations in patients with leber congenital amaurosis. (2011) (110)
- Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials. (2012) (108)
- Macular pigment and lutein supplementation in choroideremia. (2002) (107)
- Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations. (2007) (107)
- Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives (2019) (107)
- Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa. (1994) (106)
- Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. (2008) (105)
- Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model. (2011) (105)
- Lifespan and mitochondrial control of neurodegeneration (2004) (104)
- BBS genotype–phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition (2011) (103)
- Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis. (2004) (102)
- Enhanced S cone syndrome: Evidence for an abnormally large number of S cones (1995) (101)
- Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. (2012) (101)
- Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations. (2008) (101)
- Canine Retina Has a Primate Fovea-Like Bouquet of Cone Photoreceptors Which Is Affected by Inherited Macular Degenerations (2014) (101)
- Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. (2005) (100)
- Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration. (1996) (99)
- Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. (2004) (99)
- Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector (2018) (98)
- Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. (1997) (97)
- Visual function and rhodopsin levels in humans with vitamin A deficiency. (1988) (97)
- Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man (2000) (97)
- 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. (2013) (96)
- In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations. (2017) (96)
- Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. (2002) (95)
- Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials (2007) (94)
- Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene. (1997) (93)
- Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy. (2013) (92)
- Augmented rod bipolar cell function in partial receptor loss: an ERG study in P23H rhodopsin transgenic and aging normal rats (2001) (92)
- Pitfalls in homozygosity mapping. (2000) (92)
- Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing (2016) (90)
- Relatively enhanced S cone function in the Goldmann-Favre syndrome. (1991) (89)
- Clinicopathologic effects of the Q64ter rhodopsin mutation in retinitis pigmentosa. (1996) (89)
- Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. (2002) (89)
- Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. (2004) (88)
- CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. (2009) (86)
- QRX, a novel homeobox gene, modulates photoreceptor gene expression. (2004) (85)
- Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations. (2009) (85)
- Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene. (2008) (84)
- Lentiviral Expression of Retinal Guanylate Cyclase-1 (RetGC1) Restores Vision in an Avian Model of Childhood Blindness (2006) (84)
- Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. (2006) (84)
- Development of visual acuity in infants with congenital cataracts. (1981) (83)
- Cone-rod dystrophy. Phenotypic diversity by retinal function testing. (1989) (82)
- A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. (1999) (82)
- Subconjunctivally implantable hydrogels with degradable and thermoresponsive properties for sustained release of insulin to the retina. (2009) (82)
- Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation. (1992) (82)
- Foveal cone electroretinograms in retinitis pigmentosa and juvenile maular degeneration. (1979) (82)
- Defective photoreceptor phagocytosis in a mouse model of enhanced S‐cone syndrome causes progressive retinal degeneration (2011) (82)
- Retinal Rod Photoreceptor–Specific Gene Mutation Perturbs Cone Pathway Development (1999) (81)
- Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration. (2000) (80)
- Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. (1994) (79)
- Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. (2012) (79)
- Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice (2009) (79)
- Treatment possibilities for retinitis pigmentosa. (2010) (78)
- Normal central retinal function and structure preserved in retinitis pigmentosa. (2010) (78)
- Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate. (2009) (77)
- Calcium channel blocker D-cis-diltiazem does not slow retinal degeneration in the PDE6B mutant rcd1 canine model of retinitis pigmentosa. (2001) (76)
- Abnormal thickening as well as thinning of the photoreceptor layer in intermediate age-related macular degeneration. (2013) (75)
- Visual acuity of the cat (1976) (74)
- RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression. (2007) (74)
- Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence. (2009) (74)
- Photoreceptor rosettes with blue cone opsin immunoreactivity in retinitis pigmentosa. (1990) (73)
- RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function. (1994) (72)
- Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease (2015) (72)
- A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. (1995) (71)
- Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel. (2010) (68)
- Ultrastructure of connecting cilia in different forms of retinitis pigmentosa. (1992) (68)
- The spectral reflectance of the nerve fiber layer of the macaque retina. (1989) (68)
- In vivo micropathology of Best macular dystrophy with optical coherence tomography. (2003) (66)
- Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations. (2015) (66)
- Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies (2015) (65)
- 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. (1997) (65)
- Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. (2011) (65)
- Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11. (1998) (64)
- Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining. (2011) (64)
- Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. (1999) (64)
- Retinal disease course in Usher syndrome 1B due to MYO7A mutations. (2011) (64)
- Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations. (2007) (64)
- Phase I Trial of Leber Congenital Amaurosis due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results (2008) (63)
- Nonhuman primate models for diabetic ocular neovascularization using AAV2-mediated overexpression of vascular endothelial growth factor. (2005) (63)
- ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies (2008) (63)
- A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. (1998) (63)
- Phenotypic marker for early disease detection in dominant late-onset retinal degeneration. (2001) (62)
- Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. (2000) (62)
- Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene. (1996) (61)
- Visual Function and Central Retinal Structure in Choroideremia. (2016) (61)
- RPGR-associated retinal degeneration in human X-linked RP and a murine model. (2012) (59)
- The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65 (2011) (58)
- Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations. (2017) (58)
- Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis (2001) (58)
- Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration. (1999) (58)
- Melatonin delays photoreceptor degeneration in the rds/rds mouse (2001) (57)
- BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure (2018) (57)
- Registration of high-resolution images of the retina (1992) (57)
- Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. (2003) (56)
- Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. (2014) (55)
- Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. (2005) (55)
- AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis. (2013) (54)
- Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. (2015) (54)
- Rod plateaux during dark adaptation in Sorsby's fundus dystrophy and vitamin A deficiency. (1997) (53)
- DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. (2016) (50)
- Expanded clinical spectrum of enhanced S-cone syndrome. (2012) (49)
- Visual acuity of infants with ocular diseases. (1982) (48)
- Two types of visual dysfunction in autosomal dominant retinitis pigmentosa. (1988) (48)
- Autofluorescence imaging with near-infrared excitation:normalization by reflectance to reduce signal from choroidal fluorophores. (2015) (47)
- Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. (2002) (47)
- Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290. (2013) (46)
- Sites of disease action in a retinal dystrophy with supernormal and delayed rod electroretinogramb-waves (1996) (46)
- Patterns of rod and cone dysfunction in Bardet-Biedl syndrome. (1990) (45)
- Automated Light- and Dark-Adapted Perimetry for Evaluating Retinitis Pigmentosa: Filling a Need to Accommodate Multicenter Clinical Trials. (2016) (44)
- Predicting the pathogenicity of RPE65 mutations (2009) (44)
- Pseudo-fovea formation after gene therapy for RPE65-LCA. (2014) (43)
- Development of amblyopia in infants. (1979) (43)
- Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision (2019) (43)
- Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential. (2007) (43)
- Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations. (2014) (43)
- Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene. (2011) (42)
- Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3. (2003) (42)
- Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C. (2009) (42)
- Patterns of Individual Variation in Visual Pathway Structure and Function in the Sighted and Blind (2016) (42)
- Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis. (2007) (42)
- Optical coherence tomography (OCT) abnormalities in rhodopsin mutant transgenic swine with retinal degeneration. (2000) (41)
- Long-Term Structural Outcomes of Late-Stage RPE65 Gene Therapy. (2020) (41)
- Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene. (2017) (41)
- OUTCOME MEASURES AND THEIR APPLICATION IN CLINICAL TRIALS FOR RETINAL DEGENERATIVE DISEASES: Outline, Review, and Perspective (2005) (40)
- TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones. (2014) (40)
- The Enhanced S Cone Syndrome: An Analysis of Receptoral and Post-receptoral Changes (1996) (40)
- De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa. (2003) (40)
- Usher syndromes due to MYO 7 A , PCDH 15 , USH 2 A or GPR 98 mutations share retinal disease mechanism (2008) (39)
- Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II (2009) (39)
- Retinal optogenetic therapies: clinical criteria for candidacy (2013) (39)
- Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept. (2012) (39)
- S cone-driven but not S cone-type electroretinograms in the enhanced S cone syndrome. (1991) (38)
- Evidence for retinal remodelling in retinitis pigmentosa caused by PDE6B mutation (2007) (37)
- Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. (2016) (37)
- A homozygous PDE6B mutation in a family with autosomal recessive retinitis pigmentosa. (1996) (36)
- Nasal field loss in cats reared with convergent squint: behavioural studies. (1977) (36)
- Rescue of Enzymatic Function for Disease-associated RPE65 Proteins Containing Various Missense Mutations in Non-active Sites* (2014) (34)
- Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations (2016) (33)
- Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report (2021) (32)
- CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene. (2001) (32)
- Blue Cone Monochromacy: Visual Function and Efficacy Outcome Measures for Clinical Trials (2015) (32)
- EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression (2017) (31)
- Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front. (2015) (31)
- Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization (2009) (31)
- CDHR1 mutations in retinal dystrophies (2017) (31)
- Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations. (2010) (30)
- Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration. (2016) (30)
- X-linked retinitis pigmentosa: functional phenotype of an RP2 genotype. (1992) (30)
- Image analysis of the tapetal-like reflex in carriers of X-linked retinitis pigmentosa. (1994) (29)
- Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration (2017) (29)
- Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR. (2015) (29)
- Retinal morphology and visual pigment levels in 6‐and 12‐month‐old rhesus monkeys fed a taurine‐free human infant formula (1993) (28)
- Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations. (2016) (28)
- Rhodopsin levels and retinal function in cats during recovery from vitamin A deficiency. (1989) (28)
- Rhodopsin levels in the central retinas of normal miniature poodles and those with progressive rod-cone degeneration. (1992) (27)
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- From observations in the retina clinic to insights into pathophysiology (2018) (0)
- Macular Pigment And Lutein Supplementation In Macular Diseases (2004) (0)
- Hypotheses about the Identity of Outer Retinal Microstructure in OCT Cross-sections and Quantitative Measurements in Normal Subjects (2014) (0)
- The late–onset retinal degeneration gene product C1QTNF5 (CTRP5) interacts with the membrane–type frizzled–related protein MFRP. (2004) (0)
- X-linked RP Caused by RPGR Mutations: Natural History of the Human Disease and an Rpgr-mutant Rodent Model (2012) (0)
- Retinal Remodeling in Human Retinitis Pigmentosa Caused by Rhodopsin Gene Mutations: Intraretinal and Inter-Class Differences (2007) (0)
- CERKL Mutations Cause Retina-Wide Cone and Rod Disease With Prominent Maculopathy (2009) (0)
- Fragile Maculas in Patients with Retinal Degeneration due to RPGR-ORF15 Mutations: Spatio-temporal Models of Disease Progression (2016) (0)
- Canine Multifocal Retinopathy (cmr1) Model of Human Best Macular Dystrophy: Imaging Earliest Retinal Lesions (2010) (0)
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What Schools Are Affiliated With Samuel G. Jacobson?
Samuel G. Jacobson is affiliated with the following schools:
