1
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Adult-onset primary open-angle glaucoma caused by mutations in optineurin.
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Science
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2002
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6.53
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2
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Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.
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Hum Mol Genet
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2005
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3.56
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3
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BIGH3 mutation spectrum in corneal dystrophies.
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Invest Ophthalmol Vis Sci
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2002
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2.19
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4
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Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.
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Am J Hum Genet
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2002
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2.13
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5
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The need for standardization of antiretinal antibody detection and measurement.
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Am J Ophthalmol
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2008
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1.83
|
6
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Structural abnormalities of the cornea and lid resulting from collagen V mutations.
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Invest Ophthalmol Vis Sci
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2006
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1.53
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7
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CRYBA4, a novel human cataract gene, is also involved in microphthalmia.
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Am J Hum Genet
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2006
|
1.41
|
8
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Adult ovarian retinoblastoma genomic profile distinct from prior childhood eye tumor.
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Arch Ophthalmol
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2011
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1.39
|
9
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Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB).
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Doc Ophthalmol
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2008
|
1.33
|
10
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BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
|
Hum Mutat
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2011
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1.28
|
11
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Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography.
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Arch Ophthalmol
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2008
|
1.21
|
12
|
CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype.
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Invest Ophthalmol Vis Sci
|
2004
|
1.21
|
13
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CRYBB1 mutation associated with congenital cataract and microcornea.
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Mol Vis
|
2005
|
1.16
|
14
|
Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations.
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Invest Ophthalmol Vis Sci
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2004
|
1.12
|
15
|
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
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Vision Res
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2007
|
1.08
|
16
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Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.
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Invest Ophthalmol Vis Sci
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2013
|
1.08
|
17
|
An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes.
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PLoS Genet
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2008
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1.06
|
18
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High-resolution retinal imaging in young children using a handheld scanner and Fourier-domain optical coherence tomography.
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J AAPOS
|
2009
|
1.05
|
19
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BBS mutational analysis: a strategic approach.
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Ophthalmic Genet
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2011
|
1.03
|
20
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Prosthetic conformers: a step towards improved rehabilitation of enucleated children.
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Clin Experiment Ophthalmol
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2002
|
1.03
|
21
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Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
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J Med Genet
|
2010
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1.02
|
22
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Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes.
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Mol Vis
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2008
|
1.02
|
23
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Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.
|
Vision Res
|
2007
|
0.99
|
24
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Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation.
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Acta Ophthalmol
|
2010
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0.98
|
25
|
Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.
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Invest Ophthalmol Vis Sci
|
2011
|
0.98
|
26
|
The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration.
|
Retina
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2012
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0.95
|
27
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Periocular topotecan for intraocular retinoblastoma.
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Arch Ophthalmol
|
2011
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0.91
|
28
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Eight previously unidentified mutations found in the OA1 ocular albinism gene.
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BMC Med Genet
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2006
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0.90
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29
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Management and outcome of unilateral retinoblastoma.
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J AAPOS
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2009
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0.90
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30
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A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.
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Mol Vis
|
2011
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0.89
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31
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Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.
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Invest Ophthalmol Vis Sci
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2004
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0.88
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32
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Mutational analysis of the OA1 gene in ocular albinism.
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Ophthalmic Genet
|
2003
|
0.88
|
33
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Ocular Genetics Program: multidisciplinary care of patients with ocular genetic eye disease.
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Can J Ophthalmol
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2007
|
0.87
|
34
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Assessment of central retinal function in patients with advanced retinitis pigmentosa.
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Invest Ophthalmol Vis Sci
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2007
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0.87
|
35
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Hey, I just did a new operation!: Introducing innovative procedures and devices within an academic health center.
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Ann Surg
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2015
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0.85
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36
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Using RB1 mutations to assess minimal residual disease in metastatic retinoblastoma.
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Transl Res
|
2010
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0.84
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37
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BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
|
Hum Mutat
|
2009
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0.84
|
38
|
Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans.
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PLoS Genet
|
2011
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0.83
|
39
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Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity.
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Genet Med
|
2010
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0.83
|
40
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Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.
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Ophthalmic Genet
|
2012
|
0.82
|
41
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Retinoblastoma CSF metastasis cured by multimodality chemotherapy without radiation.
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Ophthalmic Genet
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2009
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0.82
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42
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Detection of optic nerve disease in retinoblastoma by use of spectral domain optical coherence tomography.
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J AAPOS
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2012
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0.81
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43
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Further genetic heterogeneity for autosomal dominant human sutural cataracts.
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Ophthalmic Res
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2003
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0.81
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44
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Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram".
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Invest Ophthalmol Vis Sci
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2013
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0.81
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45
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Morning glory disc anomaly, midline cranial defects and abnormal carotid circulation: an association worth looking for.
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Pediatr Radiol
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2004
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0.81
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46
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Ocular manifestations of the Johanson-Blizzard syndrome.
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J AAPOS
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2009
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0.80
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47
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Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders.
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Ophthalmic Genet
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2011
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0.80
|
48
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Toxocariasis mimicking liver, lung, and spinal cord metastases from retinoblastoma.
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Pediatr Infect Dis J
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2009
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0.79
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49
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Retinoma underlying retinoblastoma revealed after tumor response to 1 cycle of chemotherapy.
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Arch Ophthalmol
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2009
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0.79
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50
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Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.
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Arch Ophthalmol
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2007
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0.78
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51
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My child has Leber congenital amaurosis: why is he/she not eligible for gene therapy trials?
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J AAPOS
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2009
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0.78
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52
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Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis.
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J Child Neurol
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2003
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0.78
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53
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Multifaceted chemotherapy for trilateral retinoblastoma.
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Arch Ophthalmol
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2011
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0.77
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54
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Trilateral retinoblastoma with pituitary-hypothalamic dysfunction.
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Ophthalmic Genet
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2008
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0.76
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55
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No ocular motility complications after subtenon topotecan with fibrin sealant for retinoblastoma.
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Can J Ophthalmol
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2013
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0.76
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56
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Radiologic surveillance for retinoblastoma metastases unexpectedly showed disseminated toxocariasis in liver, lung, and spinal cord.
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Can J Ophthalmol
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2010
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0.76
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57
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Caenorhabditis elegans as a model organism for ciliopathies and related forms of photoreceptor degeneration.
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Adv Exp Med Biol
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2012
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0.76
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58
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Molecular testing prognostic of low risk in epithelioid uveal melanoma in a child.
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Br J Ophthalmol
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2013
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0.75
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59
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Unusual ocular presentation of von Hippel-Lindau disease.
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Can J Ophthalmol
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2005
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0.75
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60
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Leukocoria caused by intraocular heterotopic brain tissue.
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Arch Ophthalmol
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2004
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0.75
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61
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Utility of molecular testing for related retinal dystrophies.
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Can J Ophthalmol
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2006
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0.75
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62
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Reply to Letter: "Hey, I Just Did a Better Operation! Toward an IDEAL Innovation Model".
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Ann Surg
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2017
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0.75
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63
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Jack Crawford Day 2009.
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Can J Ophthalmol
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2009
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0.75
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64
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Pupillary reflex dilation and skin temperature to assess sensory level during combined general and caudal anesthesia in children.
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Paediatr Anaesth
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2004
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0.75
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