Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
1
|
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
|
Nat Genet
|
2000
|
7.20
|
2
|
The genetics of childhood cataract.
|
J Med Genet
|
2000
|
3.99
|
3
|
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.
|
Cell
|
1997
|
3.42
|
4
|
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).
|
Mol Cell
|
2001
|
3.07
|
5
|
Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy.
|
Nat Genet
|
2000
|
3.00
|
6
|
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.
|
Nat Genet
|
2000
|
2.85
|
7
|
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
|
Nat Genet
|
1999
|
2.75
|
8
|
Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28.
|
Nature
|
1984
|
2.52
|
9
|
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
|
Hum Mol Genet
|
2001
|
2.48
|
10
|
RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.
|
J Med Genet
|
2003
|
2.45
|
11
|
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.
|
Am J Hum Genet
|
2001
|
2.19
|
12
|
Prevalence of AIPL1 mutations in inherited retinal degenerative disease.
|
Mol Genet Metab
|
2000
|
2.07
|
13
|
Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy.
|
Arch Ophthalmol
|
1998
|
1.93
|
14
|
A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.
|
Am J Hum Genet
|
1991
|
1.88
|
15
|
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.
|
Hum Mol Genet
|
1998
|
1.81
|
16
|
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa.
|
Nat Genet
|
1999
|
1.79
|
17
|
Functional impairment of lens aquaporin in two families with dominantly inherited cataracts.
|
Hum Mol Genet
|
2000
|
1.73
|
18
|
Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19.
|
Hum Mol Genet
|
1994
|
1.71
|
19
|
A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract.
|
J Med Genet
|
2006
|
1.68
|
20
|
Gene transfer into the mouse retina mediated by an adeno-associated viral vector.
|
Hum Mol Genet
|
1996
|
1.67
|
21
|
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma.
|
Am J Hum Genet
|
2000
|
1.58
|
22
|
A locus for autosomal dominant posterior polar cataract on chromosome 1p.
|
Hum Mol Genet
|
1997
|
1.57
|
23
|
The Msh-like homeobox genes define domains in the developing vertebrate eye.
|
Development
|
1991
|
1.54
|
24
|
Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin.
|
Hum Genet
|
1999
|
1.54
|
25
|
A locus for autosomal dominant anterior polar cataract on chromosome 17p.
|
Hum Mol Genet
|
1996
|
1.51
|
26
|
Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site.
|
Genomics
|
1991
|
1.46
|
27
|
An immune response after intraocular administration of an adenoviral vector containing a beta galactosidase reporter gene slows retinal degeneration in the rd mouse.
|
Br J Ophthalmol
|
2001
|
1.42
|
28
|
Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study.
|
Br J Ophthalmol
|
1993
|
1.41
|
29
|
The role of molecular genetics in the prenatal diagnosis of retinal dystrophies.
|
Eye (Lond)
|
1995
|
1.39
|
30
|
A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.
|
J Med Genet
|
1998
|
1.39
|
31
|
GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy.
|
Mol Cell
|
1998
|
1.38
|
32
|
High frequency of persistent hyperplastic primary vitreous and cataracts in p53-deficient mice.
|
Cell Death Differ
|
1998
|
1.38
|
33
|
The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities.
|
J Neurol
|
1993
|
1.37
|
34
|
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
|
Hum Mol Genet
|
1999
|
1.35
|
35
|
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.
|
J Med Genet
|
1998
|
1.33
|
36
|
Linkage of congenital hereditary endothelial dystrophy to chromosome 20.
|
Hum Mol Genet
|
1995
|
1.29
|
37
|
Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract.
|
Hum Mol Genet
|
2004
|
1.29
|
38
|
Effect of varying the mitomycin-C treatment area in glaucoma filtration surgery in the rabbit.
|
Invest Ophthalmol Vis Sci
|
1997
|
1.28
|
39
|
Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4).
|
J Med Genet
|
2004
|
1.27
|
40
|
TGF-beta1, -beta2, and -beta3 in vitro: biphasic effects on Tenon's fibroblast contraction, proliferation, and migration.
|
Invest Ophthalmol Vis Sci
|
2000
|
1.25
|
41
|
Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene.
|
Br J Ophthalmol
|
2006
|
1.24
|
42
|
Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy.
|
Am J Hum Genet
|
2001
|
1.23
|
43
|
A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.
|
Invest Ophthalmol Vis Sci
|
2000
|
1.23
|
44
|
Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.
|
Arch Ophthalmol
|
2001
|
1.22
|
45
|
Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation.
|
Br J Ophthalmol
|
1992
|
1.20
|
46
|
Genetic heterogeneity in hereditary haemorrhagic telangiectasia.
|
J Med Genet
|
1994
|
1.20
|
47
|
Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.
|
Am J Hum Genet
|
1990
|
1.20
|
48
|
Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy.
|
Hum Mol Genet
|
2000
|
1.17
|
49
|
Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy.
|
Br J Ophthalmol
|
2003
|
1.17
|
50
|
A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.
|
Am J Hum Genet
|
1998
|
1.15
|
51
|
Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.
|
Hum Mol Genet
|
1994
|
1.15
|
52
|
Single exposures to antiproliferatives: long-term effects on ocular fibroblast wound-healing behavior.
|
Invest Ophthalmol Vis Sci
|
1997
|
1.13
|
53
|
A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.
|
Hum Genet
|
2001
|
1.12
|
54
|
Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9).
|
Am J Hum Genet
|
1994
|
1.11
|
55
|
A locus for isolated cataract on human Xp.
|
J Med Genet
|
2002
|
1.11
|
56
|
Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies.
|
J Med Genet
|
2001
|
1.11
|
57
|
A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family.
|
Mol Vis
|
2006
|
1.09
|
58
|
Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes.
|
Genome Res
|
1996
|
1.08
|
59
|
A novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa.
|
Ann Hum Genet
|
2006
|
1.07
|
60
|
Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families.
|
Ann Hum Genet
|
2007
|
1.07
|
61
|
Adeno-associated virus gene transfer to mouse retina.
|
Hum Gene Ther
|
1998
|
1.06
|
62
|
RP1 protein truncating mutations predominate at the RP1 adRP locus.
|
Invest Ophthalmol Vis Sci
|
2000
|
1.04
|
63
|
Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies.
|
J Med Genet
|
1999
|
1.04
|
64
|
Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14.
|
Am J Hum Genet
|
1987
|
1.03
|
65
|
An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.
|
Hum Mol Genet
|
1995
|
1.03
|
66
|
No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): evidence for genetic heterogeneity.
|
Genomics
|
1990
|
1.02
|
67
|
Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families.
|
Arch Ophthalmol
|
1999
|
1.02
|
68
|
Evidence for a new locus for X-linked retinitis pigmentosa (RP23).
|
Invest Ophthalmol Vis Sci
|
2000
|
0.99
|
69
|
Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin.
|
Am J Hum Genet
|
1999
|
0.99
|
70
|
British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.
|
Br J Ophthalmol
|
2007
|
0.99
|
71
|
Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping.
|
Genome Res
|
1996
|
0.99
|
72
|
Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.
|
Hum Genet
|
1999
|
0.99
|
73
|
Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family.
|
J Med Genet
|
1993
|
0.98
|
74
|
Spectrum of mutations in USH2A in British patients with Usher syndrome type II.
|
Exp Eye Res
|
2001
|
0.98
|
75
|
Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene.
|
Br J Ophthalmol
|
2005
|
0.97
|
76
|
Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28): further linkage data, heterogeneity testing, and risk estimation.
|
Hum Genet
|
1986
|
0.97
|
77
|
Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.
|
Arch Ophthalmol
|
1993
|
0.97
|
78
|
The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy.
|
Hum Mol Genet
|
2001
|
0.95
|
79
|
Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24.
|
Invest Ophthalmol Vis Sci
|
2000
|
0.95
|
80
|
Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs.
|
Ann Hum Genet
|
2007
|
0.94
|
81
|
Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.
|
Am J Hum Genet
|
1998
|
0.94
|
82
|
Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.
|
Ann Hum Genet
|
2007
|
0.93
|
83
|
Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu). Mutations in brief no. 208. Online.
|
Hum Mutat
|
1999
|
0.93
|
84
|
The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16.
|
Hum Mol Genet
|
1996
|
0.92
|
85
|
Molecular genetics and prospects for therapy of the inherited retinal dystrophies.
|
Curr Opin Genet Dev
|
2001
|
0.92
|
86
|
Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.
|
Arch Ophthalmol
|
1995
|
0.92
|
87
|
RP11 is the second most common locus for dominant retinitis pigmentosa.
|
J Med Genet
|
1998
|
0.92
|
88
|
Immune responses limit adenovirally mediated gene expression in the adult mouse eye.
|
Gene Ther
|
1998
|
0.92
|
89
|
Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32.
|
Br J Ophthalmol
|
1999
|
0.91
|
90
|
A YAC contig spanning the dominant retinitis pigmentosa locus (RP9) on chromosome 7p.
|
Genomics
|
1995
|
0.91
|
91
|
Characterization of the human TBX20 gene, a new member of the T-Box gene family closely related to the Drosophila H15 gene.
|
Genomics
|
2000
|
0.91
|
92
|
A sudden rise in occurrence of Salmonella paratyphi a infection in Rourkela orissa.
|
Indian J Med Microbiol
|
2007
|
0.91
|
93
|
Confirmation of the rod cGMP phosphodiesterase beta subunit (PDE beta) nonsense mutation in affected rcd-1 Irish setters in the UK and development of a diagnostic test.
|
Curr Eye Res
|
1993
|
0.91
|
94
|
Genetic and physical mapping around the properdin P gene.
|
Genomics
|
1991
|
0.91
|
95
|
Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q.
|
J Med Genet
|
1997
|
0.90
|
96
|
Expression of Drosophila omb-related T-box genes in the developing human and mouse neural retina.
|
Invest Ophthalmol Vis Sci
|
2001
|
0.90
|
97
|
Chromosome 19q cone-rod retinal dystrophy. Ocular phenotype.
|
Arch Ophthalmol
|
1995
|
0.90
|
98
|
A novel keratocan mutation causing autosomal recessive cornea plana.
|
Invest Ophthalmol Vis Sci
|
2001
|
0.90
|
99
|
Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous.
|
Invest Ophthalmol Vis Sci
|
2001
|
0.90
|
100
|
Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter.
|
Doc Ophthalmol
|
1999
|
0.89
|
101
|
Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval.
|
J Med Genet
|
1995
|
0.89
|
102
|
Novel frameshift mutations in the RP2 gene and polymorphic variants.
|
Hum Mutat
|
2000
|
0.89
|
103
|
Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing.
|
J Med Genet
|
2003
|
0.88
|
104
|
New model of conjunctival scarring in the mouse eye.
|
Br J Ophthalmol
|
1998
|
0.88
|
105
|
Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies.
|
Trends Genet
|
1998
|
0.88
|
106
|
Multidrug resistant Salmonella typhi in Rourkela, Orissa.
|
Indian J Pathol Microbiol
|
2000
|
0.87
|
107
|
Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.
|
J Med Genet
|
1991
|
0.87
|
108
|
The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms.
|
Br J Ophthalmol
|
2003
|
0.86
|
109
|
Gene therapy for inherited retinal degeneration.
|
Br J Ophthalmol
|
1997
|
0.86
|
110
|
DNA polymorphisms, identified by an X-chromosome short-arm probe L 1.28 (DXS7), in different racial groups.
|
Hum Hered
|
1988
|
0.86
|
111
|
BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI.
|
Eye (Lond)
|
2004
|
0.86
|
112
|
Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.
|
Br J Ophthalmol
|
1995
|
0.85
|
113
|
Segregation of a PRKCG mutation in two RP11 families.
|
Am J Hum Genet
|
1998
|
0.85
|
114
|
Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278.
|
J Med Genet
|
1995
|
0.85
|
115
|
The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.
|
Clin Genet
|
2003
|
0.85
|
116
|
Molecular therapy in ocular wound healing.
|
Br J Ophthalmol
|
1999
|
0.84
|
117
|
Absence of p53 delays apoptotic photoreceptor cell death in the rds mouse.
|
Curr Eye Res
|
1998
|
0.84
|
118
|
Solute and water exchanges between cells and extracellular fluids in health and disturbances after trauma.
|
JPEN J Parenter Enteral Nutr
|
1980
|
0.84
|
119
|
Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance.
|
Br J Ophthalmol
|
2008
|
0.83
|
120
|
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.
|
Br J Ophthalmol
|
2003
|
0.83
|
121
|
MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy.
|
Neuroradiology
|
2000
|
0.83
|
122
|
Refinement of the cone-rod retinal dystrophy locus on chromosome 19q.
|
Am J Hum Genet
|
1994
|
0.83
|
123
|
A genetic linkage study of choroideremia.
|
Ophthalmic Paediatr Genet
|
1986
|
0.82
|
124
|
Novel mutations of the RPGR gene in RP3 families.
|
Hum Mutat
|
2000
|
0.82
|
125
|
Association of less common cystic fibrosis mutations with a mild phenotype.
|
J Med Genet
|
1991
|
0.82
|
126
|
Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD).
|
Hum Genet
|
1999
|
0.82
|
127
|
A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families.
|
Br J Ophthalmol
|
2003
|
0.82
|
128
|
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation.
|
Br J Ophthalmol
|
2007
|
0.81
|
129
|
Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees.
|
Hum Genet
|
1998
|
0.81
|
130
|
Sequence variation within the RPGR gene: evidence for a founder complex allele.
|
Hum Mutat
|
2000
|
0.81
|
131
|
A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family.
|
Hum Mol Genet
|
1994
|
0.81
|
132
|
Antibiogram, phage typing and biotyping of Salmonella Typhi and Salmonella Paratyphi A from Rourkela, Orissa.
|
Indian J Med Res
|
2006
|
0.81
|
133
|
Dinucleotide repeat polymorphism at the DXS559 locus.
|
Hum Mol Genet
|
1992
|
0.81
|
134
|
A genetic linkage study of a kindred with X-linked retinitis pigmentosa.
|
Br J Ophthalmol
|
1985
|
0.81
|
135
|
The cytopathic 18f strain of Hepatitis A virus induces RNA degradation in FrhK4 cells.
|
Arch Virol
|
2003
|
0.81
|
136
|
A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.
|
J Med Genet
|
1996
|
0.81
|
137
|
Isolation and characterization of three microsatellite markers in the proximal long arm of the human X chromosome.
|
Genomics
|
1993
|
0.80
|
138
|
A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family.
|
Invest Ophthalmol Vis Sci
|
2001
|
0.80
|
139
|
Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding site.
|
Br J Ophthalmol
|
1994
|
0.80
|
140
|
Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp.
|
Hum Genet
|
1992
|
0.79
|
141
|
Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa.
|
Br J Ophthalmol
|
1994
|
0.79
|
142
|
The gene for Aarskog syndrome is located between DXS255 and DXS566 (Xp11.2-Xq13).
|
Genomics
|
1992
|
0.79
|
143
|
Characterization of the human diacylglycerol kinase epsilon gene and its assessment as a candidate for inherited retinitis pigmentosa.
|
Gene
|
1999
|
0.78
|
144
|
Co-injection of adenovirus expressing CTLA4-Ig prolongs adenovirally mediated lacZ reporter gene expression in the mouse retina.
|
Gene Ther
|
1998
|
0.78
|
145
|
NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies.
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