|
1
|
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.
|
Proc Natl Acad Sci U S A
|
2005
|
13.44
|
|
2
|
Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.
|
Nat Genet
|
2006
|
8.33
|
|
3
|
A first-generation linkage disequilibrium map of human chromosome 22.
|
Nature
|
2002
|
7.03
|
|
4
|
Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications.
|
Ann Med
|
2006
|
2.65
|
|
5
|
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
|
Invest Ophthalmol Vis Sci
|
2012
|
2.26
|
|
6
|
Quantitative fundus autofluorescence in recessive Stargardt disease.
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Invest Ophthalmol Vis Sci
|
2014
|
1.27
|
|
7
|
Evaluating the arrayed primer extension resequencing assay of TP53 tumor suppressor gene.
|
Proc Natl Acad Sci U S A
|
2002
|
1.16
|
|
8
|
A novel mutation and phenotypes in phosphodiesterase 6 deficiency.
|
Am J Ophthalmol
|
2008
|
1.07
|
|
9
|
Genotype-phenotype correlation in Italian families with Stargardt disease.
|
Ophthalmic Res
|
2005
|
1.06
|
|
10
|
Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease.
|
Invest Ophthalmol Vis Sci
|
2005
|
1.04
|
|
11
|
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
|
Hum Mutat
|
2009
|
1.03
|
|
12
|
Comprehensive analysis of the candidate genes CCL2, CCR2, and TLR4 in age-related macular degeneration.
|
Invest Ophthalmol Vis Sci
|
2008
|
0.98
|
|
13
|
Early-onset macular degeneration with drusen in a cynomolgus monkey (Macaca fascicularis) pedigree: exclusion of 13 candidate genes and loci.
|
Invest Ophthalmol Vis Sci
|
2005
|
0.93
|
|
14
|
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
|
Ophthalmology
|
2013
|
0.91
|
|
15
|
ABCA4 gene screening by next-generation sequencing in a British cohort.
|
Invest Ophthalmol Vis Sci
|
2013
|
0.90
|
|
16
|
Peripapillary atrophy in Stargardt disease.
|
Retina
|
2009
|
0.88
|
|
17
|
Familial discordance in Stargardt disease.
|
Mol Vis
|
2012
|
0.87
|
|
18
|
Distinct characteristics of inferonasal fundus autofluorescence patterns in stargardt disease and retinitis pigmentosa.
|
Invest Ophthalmol Vis Sci
|
2013
|
0.86
|
|
19
|
Fine central macular dots associated with childhood-onset Stargardt Disease.
|
Acta Ophthalmol
|
2013
|
0.81
|
|
20
|
Abnormality in the external limiting membrane in early Stargardt disease.
|
Ophthalmic Genet
|
2012
|
0.81
|
|
21
|
The value of retinal imaging with infrared scanning laser ophthalmoscopy in patients with stargardt disease.
|
Retina
|
2014
|
0.80
|
|
22
|
Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family.
|
Ophthalmic Res
|
2004
|
0.78
|
|
23
|
Psychophysical measurement of rod and cone thresholds in stargardt disease with full-field stimuli.
|
Retina
|
2014
|
0.77
|
|
24
|
Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.
|
Invest Ophthalmol Vis Sci
|
2014
|
0.76
|
|
25
|
Pseudo-vitelliform macular detachment and cuticular drusen: exclusion of 6 candidate genes.
|
Ophthalmic Genet
|
2007
|
0.75
|
|
26
|
HYPERREFLECTIVE DEPOSITION IN THE BACKGROUND OF ADVANCED STARGARDT DISEASE.
|
Retina
|
2017
|
0.75
|