PubRank

S G Jacobson

Author PubWeight™ 157.07‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Gene therapy restores vision in a canine model of childhood blindness. Nat Genet 2001 7.88
2 Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet 2000 4.81
3 Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A 1991 4.10
4 Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nat Genet 2000 3.72
5 Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 1997 3.42
6 Relation of optical coherence tomography to microanatomy in normal and rd chickens. Invest Ophthalmol Vis Sci 1998 3.05
7 The spectral reflectance of the nerve fiber layer of the macaque retina. Invest Ophthalmol Vis Sci 1989 2.78
8 Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat Genet 2001 2.77
9 Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat Genet 2000 2.70
10 Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet 1998 2.63
11 Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. Proc Natl Acad Sci U S A 2000 2.60
12 Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet 2001 2.56
13 De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet 1998 2.53
14 CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet 2001 2.51
15 Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Invest Ophthalmol Vis Sci 2000 2.46
16 Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa. Nat Biotechnol 1997 2.42
17 Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol 2001 2.38
18 Automated light- and dark-adapted perimetry for evaluating retinitis pigmentosa. Ophthalmology 1986 2.34
19 Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron 1997 2.34
20 Pitfalls in homozygosity mapping. Am J Hum Genet 2000 2.12
21 An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci 2001 1.90
22 Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol 2000 1.89
23 Stable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retina. Proc Natl Acad Sci U S A 1999 1.89
24 Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. Invest Ophthalmol Vis Sci 2000 1.84
25 An alternative phototransduction model for human rod and cone ERG a-waves: normal parameters and variation with age. Vision Res 1996 1.77
26 Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. Proc Natl Acad Sci U S A 1998 1.75
27 Psychophysical evidence for rod vulnerability in age-related macular degeneration. Invest Ophthalmol Vis Sci 2000 1.67
28 Retinal rod photoreceptor-specific gene mutation perturbs cone pathway development. Neuron 1999 1.64
29 Autoantibodies against retinal bipolar cells in cutaneous melanoma-associated retinopathy. Invest Ophthalmol Vis Sci 1993 1.62
30 TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. Nat Genet 1998 1.60
31 Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. Am J Ophthalmol 1990 1.53
32 Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man. Proc Natl Acad Sci U S A 1998 1.52
33 Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. Am J Hum Genet 1997 1.45
34 Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. Am J Hum Genet 1993 1.45
35 Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa. Mol Ther 2001 1.43
36 Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. Genomics 1995 1.38
37 Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. Am J Hum Genet 1996 1.34
38 A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. Hum Mol Genet 1999 1.33
39 Autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation: retinal histopathology and immunocytochemistry. Exp Eye Res 1994 1.31
40 Cone-rod dystrophy. Phenotypic diversity by retinal function testing. Arch Ophthalmol 1989 1.31
41 Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. Am J Hum Genet 2000 1.29
42 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. Am J Hum Genet 1997 1.25
43 Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. Hum Mutat 2001 1.24
44 Augmented rod bipolar cell function in partial receptor loss: an ERG study in P23H rhodopsin transgenic and aging normal rats. Vision Res 2001 1.23
45 Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration. Invest Ophthalmol Vis Sci 1996 1.18
46 Negative electroretinograms in retinitis pigmentosa. Invest Ophthalmol Vis Sci 1993 1.18
47 Enhanced S cone syndrome: evidence for an abnormally large number of S cones. Vision Res 1995 1.17
48 Macular pigment and lutein supplementation in retinitis pigmentosa and Usher syndrome. Invest Ophthalmol Vis Sci 2001 1.17
49 Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation. Am J Ophthalmol 1992 1.17
50 Two types of visual dysfunction in autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 1988 1.16
51 Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11. Genomics 1998 1.15
52 Foveal cone electroretinograms in retinitis pigmentosa and juvenile maular degeneration. Am J Ophthalmol 1979 1.13
53 Development of visual acuity in infants with congenital cataracts. Br J Ophthalmol 1981 1.13
54 CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene. Invest Ophthalmol Vis Sci 2001 1.11
55 Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration. Invest Ophthalmol Vis Sci 1999 1.09
56 Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet 1999 1.09
57 Sites of disease action in a retinal dystrophy with supernormal and delayed rod electroretinogram b-waves. Vision Res 1996 1.06
58 Photoreceptor rosettes with blue cone opsin immunoreactivity in retinitis pigmentosa. Ophthalmology 1990 1.06
59 A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. Am J Hum Genet 1998 1.05
60 A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy. Mol Vis 2000 1.05
61 Visual function and rhodopsin levels in humans with vitamin A deficiency. Exp Eye Res 1988 1.05
62 Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration. Ophthalmology 2000 1.04
63 A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. Ophthalmology 1995 1.02
64 Optical coherence tomography (OCT) abnormalities in rhodopsin mutant transgenic swine with retinal degeneration. Exp Eye Res 2000 1.02
65 A homozygous PDE6B mutation in a family with autosomal recessive retinitis pigmentosa. Mol Vis 1996 1.02
66 Predicting the pathogenicity of RPE65 mutations. Hum Mutat 2009 1.01
67 Ultrastructure of connecting cilia in different forms of retinitis pigmentosa. Arch Ophthalmol 1992 1.01
68 Clinicopathologic effects of the Q64ter rhodopsin mutation in retinitis pigmentosa. Invest Ophthalmol Vis Sci 1996 0.99
69 Morphological findings in retinitis pigmentosa with early diffuse rod dysfunction. Retina 1988 0.99
70 Binocular visual form deprivation in human infants. Doc Ophthalmol 1983 0.99
71 Rhodopsin levels in the central retinas of normal miniature poodles and those with progressive rod-cone degeneration. Exp Eye Res 1992 0.98
72 Rod plateaux during dark adaptation in Sorsby's fundus dystrophy and vitamin A deficiency. Invest Ophthalmol Vis Sci 1997 0.97
73 Image analysis of the tapetal-like reflex in carriers of X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci 1994 0.97
74 Visual acuity of the cat. Vision Res 1976 0.97
75 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. Ophthalmology 1998 0.95
76 Calcium channel blocker D-cis-diltiazem does not slow retinal degeneration in the PDE6B mutant rcd1 canine model of retinitis pigmentosa. Mol Vis 2001 0.94
77 Behavioural studies of spatial vision in cats reared with convergent squint: is amblyopia due to arrest of development? Exp Brain Res 1979 0.94
78 Foveal cone electroretinograms in strabismic amblyopia: comparison with juvenile macular degeneration, macular scars, and optic atrophy. Trans Ophthalmol Soc U K 1979 0.93
79 USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele. Clin Genet 2003 0.92
80 Melatonin delays photoreceptor degeneration in the rds/rds mouse. Neuroreport 2001 0.92
81 S cone-driven but not S cone-type electroretinograms in the enhanced S cone syndrome. Exp Eye Res 1991 0.91
82 The enhanced S cone syndrome: an analysis of receptoral and post-receptoral changes. Vision Res 1996 0.90
83 Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease. Mol Vis 1998 0.87
84 The distribution and kinetics of visual pigments in the cat retina. Invest Ophthalmol Vis Sci 1988 0.86
85 Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa. Exp Eye Res 1996 0.86
86 Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21. Am J Hum Genet 1995 0.85
87 Mutational spectrum in Usher syndrome type II. Clin Genet 2004 0.84
88 Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. Hum Mol Genet 1994 0.84
89 Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets. Eye (Lond) 2008 0.83
90 Development of amblyopia in infants. Trans Ophthalmol Soc U K 1979 0.83
91 Concentric retinitis pigmentosa: clinicopathologic correlations. Exp Eye Res 2001 0.83
92 RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function. Invest Ophthalmol Vis Sci 1994 0.83
93 Retinal morphology and visual pigment levels in 6- and 12-month-old rhesus monkeys fed a taurine-free human infant formula. J Neurosci Res 1993 0.82
94 Psychophysical assessment of visual acuity in infants with visual disorders. Behav Brain Res 1983 0.82
95 Visual acuity of infants with ocular diseases. Am J Ophthalmol 1982 0.82
96 Monocular visual form deprivation in human infants. Doc Ophthalmol 1983 0.82
97 Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS gene. Exp Eye Res 1996 0.82
98 Visual acuity development in tyrosinase negative oculocutaneous albinism. Doc Ophthalmol 1984 0.80
99 Nasal field loss in cats reared with convergent squint: behavioural studies. J Physiol 1977 0.80
100 Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations. Invest Ophthalmol Vis Sci 1999 0.80
101 Optic nerve fibre lesions in adult cats: pattern of recovery of spatial vision. Exp Brain Res 1979 0.80
102 Visual pigment levels in retinitis pigmentosa. Trans Ophthalmol Soc U K 1983 0.79
103 Rhodopsin levels and retinal function in cats during recovery from vitamin A deficiency. Exp Eye Res 1989 0.79
104 Analysis of phosducin as a candidate gene for retinopathies. Ophthalmic Genet 1996 0.78
105 Rod and cone psychophysics and electroretinography: methods for comparison in retinal degenerations. Doc Ophthalmol 1988 0.78
106 Dark- and light-adapted visual evoked cortical potentials in retinitis pigmentosa. Doc Ophthalmol 1985 0.78
107 Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3. Genomics 1998 0.77
108 Advanced retinitis pigmentosa: quantifying visual function. Prog Clin Biol Res 1989 0.77
109 Convergent squint arrests the development of spatial vision in cats: behavioural evidence [proceedings]. J Physiol 1977 0.76
110 Rod or cone dysfunction: uniocular presentations. Doc Ophthalmol 1986 0.75
111 Pattern of recovery of spatial vision after pre-geniculate nerve fibre lesions in adult cats [proceedings]. J Physiol 1977 0.75
112 A framework of continuous education for HSA and SHPDA staff. Am J Health Plann 1977 0.75
113 Rod mediated retinal dysfunction in cats with zinc depletion: comparison with taurine depletion. Clin Sci (Lond) 1986 0.75
114 Pathological changes in the optic chiasm of the cat following local injection of diphtheria toxin. J Neurol Sci 1977 0.75
115 Behavioural, neurophysiological and morphological evidence for a nasal visual field loss in cats reared with monocular convergent squint [proceedings]. J Physiol 1976 0.75
116 The distribution and kinetics of visual pigments in the owl monkey retina. Exp Eye Res 1991 0.75
117 Proceedings: The visual acuity of the cat. J Physiol 1975 0.75
118 [Modification of an automated perimeter for dark- and light-adapted perimetry]. Nippon Ganka Gakkai Zasshi 1990 0.75
119 Analysis of DNA elements that modulate myosin VIIA expression in humans. Hum Mutat 1999 0.75
120 Evaluation of eyes with stage-5 retinopathy of prematurity. Graefes Arch Clin Exp Ophthalmol 1989 0.75
121 Erratum: analysis of DNA elements that modulate myosin VIIa expression in humans. Hum Mutat 2000 0.75