Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
1
|
Complement factor H variant increases the risk of age-related macular degeneration.
|
Science
|
2005
|
17.95
|
2
|
Risk alleles for multiple sclerosis identified by a genomewide study.
|
N Engl J Med
|
2007
|
17.06
|
3
|
Functional impact of global rare copy number variation in autism spectrum disorders.
|
Nature
|
2010
|
14.66
|
4
|
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
|
Nat Genet
|
2007
|
14.05
|
5
|
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
|
Nature
|
2011
|
13.23
|
6
|
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
|
Nat Genet
|
2011
|
10.07
|
7
|
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
|
Nat Genet
|
2013
|
8.02
|
8
|
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
|
Nat Genet
|
2004
|
7.45
|
9
|
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
|
Nature
|
2009
|
7.39
|
10
|
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
|
Nat Genet
|
2009
|
7.16
|
11
|
A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.
|
Science
|
2005
|
7.03
|
12
|
A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set.
|
Am J Hum Genet
|
2003
|
5.34
|
13
|
Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis.
|
Nat Genet
|
2007
|
5.09
|
14
|
No gene is an island: the flip-flop phenomenon.
|
Am J Hum Genet
|
2007
|
4.69
|
15
|
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
|
Nat Genet
|
2013
|
4.62
|
16
|
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.
|
Nature
|
2011
|
4.56
|
17
|
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
|
Proc Natl Acad Sci U S A
|
2010
|
4.30
|
18
|
Seven new loci associated with age-related macular degeneration.
|
Nat Genet
|
2013
|
3.81
|
19
|
Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.
|
Am J Hum Genet
|
2009
|
3.54
|
20
|
A genome-wide scan for common alleles affecting risk for autism.
|
Hum Mol Genet
|
2010
|
3.42
|
21
|
Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.
|
Am J Hum Genet
|
2003
|
3.39
|
22
|
Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis.
|
Hum Mol Genet
|
2006
|
3.13
|
23
|
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).
|
Am J Hum Genet
|
2002
|
2.98
|
24
|
Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes.
|
Arch Neurol
|
2010
|
2.91
|
25
|
Age at onset in two common neurodegenerative diseases is genetically controlled.
|
Am J Hum Genet
|
2002
|
2.90
|
26
|
Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.
|
Am J Hum Genet
|
2006
|
2.89
|
27
|
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
|
Nat Genet
|
2005
|
2.79
|
28
|
Clustering of autoimmune diseases in families with a high-risk for multiple sclerosis: a descriptive study.
|
Lancet Neurol
|
2006
|
2.77
|
29
|
Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans.
|
Am J Hum Genet
|
2003
|
2.71
|
30
|
Genomic screen and follow-up analysis for autistic disorder.
|
Am J Med Genet
|
2002
|
2.70
|
31
|
Evidence for polygenic susceptibility to multiple sclerosis--the shape of things to come.
|
Am J Hum Genet
|
2010
|
2.64
|
32
|
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
|
BMC Med
|
2009
|
2.60
|
33
|
Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions.
|
Am J Hum Genet
|
2004
|
2.58
|
34
|
Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.
|
JAMA
|
2013
|
2.58
|
35
|
A high-density screen for linkage in multiple sclerosis.
|
Am J Hum Genet
|
2005
|
2.50
|
36
|
Exome sequencing of a multigenerational human pedigree.
|
PLoS One
|
2009
|
2.48
|
37
|
Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
|
Hum Mol Genet
|
2012
|
2.46
|
38
|
The role of the CD58 locus in multiple sclerosis.
|
Proc Natl Acad Sci U S A
|
2009
|
2.38
|
39
|
Analysis of European mitochondrial haplogroups with Alzheimer disease risk.
|
Neurosci Lett
|
2004
|
2.36
|
40
|
Meta-analysis of genome scans of age-related macular degeneration.
|
Hum Mol Genet
|
2005
|
2.34
|
41
|
Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.
|
PLoS Genet
|
2012
|
2.23
|
42
|
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.
|
Ann Hum Genet
|
2009
|
2.15
|
43
|
SNPselector: a web tool for selecting SNPs for genetic association studies.
|
Bioinformatics
|
2005
|
2.14
|
44
|
Identification of MeCP2 mutations in a series of females with autistic disorder.
|
Pediatr Neurol
|
2003
|
2.14
|
45
|
GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.
|
Neuron
|
2013
|
2.13
|
46
|
Novel late-onset Alzheimer disease loci variants associate with brain gene expression.
|
Neurology
|
2012
|
2.08
|
47
|
SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk.
|
Ann Neurol
|
2011
|
2.01
|
48
|
Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.
|
Ann Neurol
|
2003
|
2.01
|
49
|
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.
|
Am J Hum Genet
|
2006
|
2.00
|
50
|
A second major histocompatibility complex susceptibility locus for multiple sclerosis.
|
Ann Neurol
|
2007
|
1.99
|
51
|
Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease.
|
Hum Mol Genet
|
2003
|
1.98
|
52
|
Comprehensive search for Alzheimer disease susceptibility loci in the APOE region.
|
Arch Neurol
|
2012
|
1.97
|
53
|
Factor analysis of restricted and repetitive behaviors in autism using the Autism Diagnostic Interview-R.
|
Child Psychiatry Hum Dev
|
2003
|
1.97
|
54
|
Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing.
|
Hum Hered
|
2005
|
1.86
|
55
|
Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration.
|
Hum Mol Genet
|
2007
|
1.83
|
56
|
Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
|
PLoS Genet
|
2010
|
1.80
|
57
|
Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families.
|
Am J Ophthalmol
|
2005
|
1.73
|
58
|
A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study.
|
Am J Hum Genet
|
2004
|
1.71
|
59
|
Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease.
|
Am J Hum Genet
|
2004
|
1.70
|
60
|
Vitamin D from different sources is inversely associated with Parkinson disease.
|
Mov Disord
|
2014
|
1.67
|
61
|
Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration.
|
Hum Mol Genet
|
2007
|
1.67
|
62
|
Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder.
|
Am J Hum Genet
|
2002
|
1.64
|
63
|
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.
|
Nat Genet
|
2012
|
1.63
|
64
|
Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6.
|
Invest Ophthalmol Vis Sci
|
2006
|
1.60
|
65
|
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
|
Nat Genet
|
2001
|
1.59
|
66
|
Meta-analysis of the association between variants in SORL1 and Alzheimer disease.
|
Arch Neurol
|
2011
|
1.59
|
67
|
Comparison of three targeted enrichment strategies on the SOLiD sequencing platform.
|
PLoS One
|
2011
|
1.55
|
68
|
Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease.
|
Am J Hum Genet
|
2007
|
1.55
|
69
|
Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma.
|
Invest Ophthalmol Vis Sci
|
2006
|
1.51
|
70
|
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.
|
Hum Mol Genet
|
2012
|
1.46
|
71
|
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
|
Hum Genet
|
2011
|
1.43
|
72
|
C3 R102G polymorphism increases risk of age-related macular degeneration.
|
Hum Mol Genet
|
2008
|
1.39
|
73
|
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration.
|
Nat Genet
|
2013
|
1.39
|
74
|
Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22.
|
Am J Hum Genet
|
2003
|
1.35
|
75
|
Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26.
|
Mol Vis
|
2004
|
1.35
|
76
|
Investigation of autism and GABA receptor subunit genes in multiple ethnic groups.
|
Neurogenetics
|
2006
|
1.33
|
77
|
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
|
J Clin Invest
|
2012
|
1.32
|
78
|
Linkage of a gene causing familial membranoproliferative glomerulonephritis type III to chromosome 1.
|
J Am Soc Nephrol
|
2002
|
1.31
|
79
|
Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.
|
Am J Hum Genet
|
2005
|
1.31
|
80
|
Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping.
|
Hum Mol Genet
|
2004
|
1.29
|
81
|
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
|
Hum Mol Genet
|
2012
|
1.29
|
82
|
Design of the Genetics of Early Onset Cardiovascular Disease (GENECARD) study.
|
Am Heart J
|
2003
|
1.28
|
83
|
A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism.
|
Mol Autism
|
2011
|
1.27
|
84
|
Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12.
|
BMC Genet
|
2004
|
1.27
|
85
|
Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration.
|
PLoS One
|
2008
|
1.23
|
86
|
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.
|
PLoS One
|
2013
|
1.23
|
87
|
Genomic convergence to identify candidate genes for Alzheimer disease on chromosome 10.
|
Hum Mutat
|
2009
|
1.21
|
88
|
Genetic analysis of biological pathway data through genomic randomization.
|
Hum Genet
|
2011
|
1.20
|
89
|
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
|
Neurogenetics
|
2004
|
1.19
|
90
|
The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study.
|
J Alzheimers Dis
|
2010
|
1.19
|
91
|
Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians.
|
Neurobiol Aging
|
2012
|
1.18
|
92
|
Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis.
|
Nat Genet
|
2010
|
1.16
|
93
|
Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma.
|
Arch Ophthalmol
|
2003
|
1.15
|
94
|
Early adult-onset POAG linked to 15q11-13 using ordered subset analysis.
|
Invest Ophthalmol Vis Sci
|
2005
|
1.14
|
95
|
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.
|
Autism Res
|
2012
|
1.10
|
96
|
Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease.
|
Hum Genet
|
2005
|
1.09
|
97
|
The genetic epidemiology of multiple sclerosis.
|
J Neuroimmunol
|
2003
|
1.08
|
98
|
ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.
|
Acta Neuropathol
|
2014
|
1.07
|
99
|
Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism.
|
Arch Ophthalmol
|
2007
|
1.07
|
100
|
Localization of age-related macular degeneration-associated ARMS2 in cytosol, not mitochondria.
|
Invest Ophthalmol Vis Sci
|
2009
|
1.07
|
101
|
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
|
PLoS One
|
2011
|
1.06
|
102
|
Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States.
|
J Glaucoma
|
2006
|
1.06
|
103
|
Analysis of the indel at the ARMS2 3'UTR in age-related macular degeneration.
|
Hum Genet
|
2010
|
1.04
|
104
|
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
|
Neurobiol Aging
|
2012
|
1.02
|
105
|
Joint effects of smoking history and APOE genotypes in age-related macular degeneration.
|
Mol Vis
|
2005
|
1.02
|
106
|
Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach.
|
PLoS One
|
2011
|
1.02
|
107
|
Differences in apolipoprotein E3/3 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease.
|
Neurobiol Dis
|
2005
|
1.02
|
108
|
Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis.
|
Neurogenetics
|
2004
|
1.02
|
109
|
Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci.
|
Ann Hum Genet
|
2013
|
1.02
|
110
|
CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis.
|
Hum Mol Genet
|
2010
|
1.01
|
111
|
Genome-wide linkage scan in fuchs endothelial corneal dystrophy.
|
Invest Ophthalmol Vis Sci
|
2008
|
1.01
|
112
|
Multiple susceptibility loci for multiple sclerosis.
|
Hum Mol Genet
|
2002
|
1.01
|
113
|
Complement factor H increases risk for atrophic age-related macular degeneration.
|
Ophthalmology
|
2006
|
1.00
|
114
|
A genome-wide linkage analysis of dementia in the Amish.
|
Am J Med Genet B Neuropsychiatr Genet
|
2006
|
1.00
|
115
|
Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis.
|
Ann Neurol
|
2004
|
0.99
|
116
|
Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility.
|
Hum Genet
|
2010
|
0.99
|
117
|
A major histocompatibility Class I locus contributes to multiple sclerosis susceptibility independently from HLA-DRB1*15:01.
|
PLoS One
|
2010
|
0.98
|
118
|
Complex gene-gene interactions in multiple sclerosis: a multifactorial approach reveals associations with inflammatory genes.
|
Neurogenetics
|
2006
|
0.97
|
119
|
A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12.
|
Neurogenetics
|
2006
|
0.97
|
120
|
APOE is not associated with Alzheimer disease: a cautionary tale of genotype imputation.
|
Ann Hum Genet
|
2010
|
0.97
|
121
|
C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.
|
Ann Hum Genet
|
2013
|
0.96
|
122
|
Sample degradation leads to false-positive copy number variation calls in multiplex real-time polymerase chain reaction assays.
|
Anal Biochem
|
2008
|
0.96
|
123
|
CALHM1 polymorphism is not associated with late-onset Alzheimer disease.
|
Ann Hum Genet
|
2009
|
0.96
|
124
|
Vitamin D receptor and Alzheimer's disease: a genetic and functional study.
|
Neurobiol Aging
|
2012
|
0.96
|
125
|
Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis.
|
Am J Hum Genet
|
2002
|
0.96
|
126
|
Association study of Parkin gene polymorphisms with idiopathic Parkinson disease.
|
Arch Neurol
|
2003
|
0.95
|
127
|
Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA-CLEC16A-SOCS1 gene complex.
|
Hum Mol Genet
|
2011
|
0.95
|
128
|
Using genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degeneration.
|
PLoS One
|
2011
|
0.94
|
129
|
myotilin Mutation found in second pedigree with LGMD1A.
|
Am J Hum Genet
|
2002
|
0.94
|
130
|
Peripheral reticular pigmentary change is associated with complement factor H polymorphism (Y402H) in age-related macular degeneration.
|
Ophthalmology
|
2007
|
0.94
|
131
|
Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma.
|
Hum Genet
|
2014
|
0.93
|
132
|
Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12,566 individuals.
|
Hum Mol Genet
|
2010
|
0.93
|
133
|
Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degeneration.
|
Am J Ophthalmol
|
2007
|
0.93
|
134
|
Variation within DNA repair pathway genes and risk of multiple sclerosis.
|
Am J Epidemiol
|
2010
|
0.93
|
135
|
Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype.
|
Neurogenetics
|
2004
|
0.93
|
136
|
Autism in African American families: clinical-phenotypic findings.
|
Am J Med Genet B Neuropsychiatr Genet
|
2007
|
0.93
|
137
|
Investigation of potential gene-gene interactions between APOE and RELN contributing to autism risk.
|
Psychiatr Genet
|
2007
|
0.93
|
138
|
Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration.
|
Ophthalmology
|
2007
|
0.92
|
139
|
Successful aging shows linkage to chromosomes 6, 7, and 14 in the Amish.
|
Ann Hum Genet
|
2011
|
0.92
|
140
|
A SAGE study of apolipoprotein E3/3, E3/4 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease.
|
Mol Cell Neurosci
|
2007
|
0.92
|
141
|
Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases.
|
Neurobiol Aging
|
2005
|
0.92
|
142
|
A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.
|
Autism Res
|
2011
|
0.92
|
143
|
An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males.
|
Mol Autism
|
2011
|
0.92
|
144
|
Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.
|
Ann Hum Genet
|
2012
|
0.91
|
145
|
FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4.
|
PLoS One
|
2009
|
0.91
|
146
|
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
|
Ann Hum Genet
|
2013
|
0.91
|
147
|
Estrogen pathway polymorphisms in relation to primary open angle glaucoma: an analysis accounting for gender from the United States.
|
Mol Vis
|
2013
|
0.90
|
148
|
SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approach.
|
BMC Genomics
|
2007
|
0.89
|
149
|
Derivation of autism spectrum disorder-specific induced pluripotent stem cells from peripheral blood mononuclear cells.
|
Neurosci Lett
|
2012
|
0.89
|
150
|
Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.
|
Neurogenetics
|
2009
|
0.89
|
151
|
Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia.
|
Neurogenetics
|
2005
|
0.89
|
152
|
Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer disease.
|
Neurogenetics
|
2004
|
0.88
|
153
|
Maternal lineages and Alzheimer disease risk in the Old Order Amish.
|
Hum Genet
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