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
|
The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function.
|
Cell
|
2003
|
12.50
|
3
|
Retracted
Detection of an infectious retrovirus, XMRV, in blood cells of patients with chronic fatigue syndrome.
|
Science
|
2009
|
10.76
|
4
|
Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.
|
Nat Genet
|
2006
|
8.33
|
5
|
The genome of the sea urchin Strongylocentrotus purpuratus.
|
Science
|
2006
|
6.41
|
6
|
Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumor.
|
Cell
|
2012
|
5.62
|
7
|
Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.
|
Proc Natl Acad Sci U S A
|
2008
|
4.76
|
8
|
ABCA3 gene mutations in newborns with fatal surfactant deficiency.
|
N Engl J Med
|
2004
|
4.64
|
9
|
Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation.
|
Nat Genet
|
2013
|
3.87
|
10
|
The B30.2(SPRY) domain of the retroviral restriction factor TRIM5alpha exhibits lineage-specific length and sequence variation in primates.
|
J Virol
|
2005
|
3.63
|
11
|
The multidrug resistance transporter ABCG2 (breast cancer resistance protein 1) effluxes Hoechst 33342 and is overexpressed in hematopoietic stem cells.
|
Clin Cancer Res
|
2002
|
2.75
|
12
|
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
|
13
|
ABCA3 mutations associated with pediatric interstitial lung disease.
|
Am J Respir Crit Care Med
|
2005
|
2.52
|
14
|
ABCG2: a perspective.
|
Adv Drug Deliv Rev
|
2008
|
1.97
|
15
|
Analysis of the ABCA4 gene by next-generation sequencing.
|
Invest Ophthalmol Vis Sci
|
2011
|
1.87
|
16
|
Fine mapping and functional analysis of a common variant in MSMB on chromosome 10q11.2 associated with prostate cancer susceptibility.
|
Proc Natl Acad Sci U S A
|
2009
|
1.81
|
17
|
Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations.
|
J Natl Cancer Inst
|
2013
|
1.81
|
18
|
Physical and mental health of homebound older adults: an overlooked population.
|
J Am Geriatr Soc
|
2010
|
1.69
|
19
|
Effects of human TRIM5alpha polymorphisms on antiretroviral function and susceptibility to human immunodeficiency virus infection.
|
Virology
|
2006
|
1.59
|
20
|
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.
|
PLoS Genet
|
2010
|
1.56
|
21
|
The Drakensberg declaration on the control of rheumatic fever and rheumatic heart disease in Africa.
|
S Afr Med J
|
2006
|
1.53
|
22
|
Evolution of a cytoplasmic tripartite motif (TRIM) protein in cows that restricts retroviral infection.
|
Proc Natl Acad Sci U S A
|
2006
|
1.53
|
23
|
The essential vertebrate ABCE1 protein interacts with eukaryotic initiation factors.
|
J Biol Chem
|
2006
|
1.52
|
24
|
Estrogen receptor genotypes and haplotypes associated with breast cancer risk.
|
Cancer Res
|
2004
|
1.52
|
25
|
Association assessment of copy number polymorphism and risk of age-related macular degeneration.
|
Ophthalmology
|
2011
|
1.46
|
26
|
Inherited GATA3 variants are associated with Ph-like childhood acute lymphoblastic leukemia and risk of relapse.
|
Nat Genet
|
2013
|
1.45
|
27
|
Molecular cloning of a brain-specific, developmentally regulated neuregulin 1 (NRG1) isoform and identification of a functional promoter variant associated with schizophrenia.
|
J Biol Chem
|
2007
|
1.41
|
28
|
ARID5B genetic polymorphisms contribute to racial disparities in the incidence and treatment outcome of childhood acute lymphoblastic leukemia.
|
J Clin Oncol
|
2012
|
1.39
|
29
|
Surfactant composition and function in patients with ABCA3 mutations.
|
Pediatr Res
|
2006
|
1.37
|
30
|
An exhaustive DNA micro-satellite map of the human genome using high performance computing.
|
Genomics
|
2003
|
1.33
|
31
|
HIV-1 infection in individuals with the CCR5-Delta32/Delta32 genotype: acquisition of syncytium-inducing virus at seroconversion.
|
J Acquir Immune Defic Syndr
|
2002
|
1.33
|
32
|
Unique features of TRIM5alpha among closely related human TRIM family members.
|
Virology
|
2006
|
1.33
|
33
|
Mutational analysis of ABCG2: role of the GXXXG motif.
|
Biochemistry
|
2004
|
1.29
|
34
|
The new sequencer on the block: comparison of Life Technology's Proton sequencer to an Illumina HiSeq for whole-exome sequencing.
|
Hum Genet
|
2013
|
1.27
|
35
|
A high-throughput cell-based assay for inhibitors of ABCG2 activity.
|
J Biomol Screen
|
2006
|
1.26
|
36
|
Biological validation of increased schizophrenia risk with NRG1, ERBB4, and AKT1 epistasis via functional neuroimaging in healthy controls.
|
Arch Gen Psychiatry
|
2010
|
1.24
|
37
|
The ABC transporter gene family of Daphnia pulex.
|
BMC Genomics
|
2009
|
1.20
|
38
|
Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people.
|
Am J Epidemiol
|
2011
|
1.19
|
39
|
Single-cell sequencing analysis characterizes common and cell-lineage-specific mutations in a muscle-invasive bladder cancer.
|
Gigascience
|
2012
|
1.18
|
40
|
New inhibitors of ABCG2 identified by high-throughput screening.
|
Mol Cancer Ther
|
2007
|
1.18
|
41
|
Multilocus analysis of age-related macular degeneration.
|
Eur J Hum Genet
|
2009
|
1.18
|
42
|
Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies.
|
Hum Mutat
|
2011
|
1.17
|
43
|
A locally funded Puerto Rican parrot (Amazona vittata) genome sequencing project increases avian data and advances young researcher education.
|
Gigascience
|
2012
|
1.15
|
44
|
Evolution of the vertebrate ABC gene family: analysis of gene birth and death.
|
Genomics
|
2006
|
1.14
|
45
|
The 6q22.33 locus and breast cancer susceptibility.
|
Cancer Epidemiol Biomarkers Prev
|
2009
|
1.13
|
46
|
UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.
|
PLoS One
|
2010
|
1.12
|
47
|
Partial retraction. Detection of an infectious retrovirus, XMRV, in blood cells of patients with chronic fatigue syndrome.
|
Science
|
2011
|
1.10
|
48
|
The SERPING1 gene and age-related macular degeneration.
|
Lancet
|
2009
|
1.08
|
49
|
SMUCKLER/TIM4 is a distinct member of TIM family expressed by stromal cells of secondary lymphoid tissues and associated with lymphotoxin signaling.
|
Eur J Immunol
|
2004
|
1.06
|
50
|
Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease.
|
Acta Paediatr
|
2007
|
1.05
|
51
|
Bringing age-related macular degeneration into focus.
|
Nat Genet
|
2008
|
1.04
|
52
|
Long homopurine*homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal region.
|
Nucleic Acids Res
|
2006
|
1.03
|
53
|
Genetic factors leading to chronic Epstein-Barr virus infection and nasopharyngeal carcinoma in South East China: study design, methods and feasibility.
|
Hum Genomics
|
2006
|
1.01
|
54
|
Comparative genome analysis of potential regulatory elements in the ABCG5-ABCG8 gene cluster.
|
Biochem Biophys Res Commun
|
2002
|
0.99
|
55
|
Expression of 25 human ABC transporters in the yeast Pichia pastoris and characterization of the purified ABCC3 ATPase activity.
|
Biochemistry
|
2007
|
0.98
|
56
|
Geographic atrophy in age-related macular degeneration and TLR3.
|
N Engl J Med
|
2009
|
0.97
|
57
|
The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.
|
Hum Mutat
|
2012
|
0.95
|
58
|
Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8.
|
J Biol Chem
|
2011
|
0.95
|
59
|
Risk for HIV-1 infection associated with a common CXCL12 (SDF1) polymorphism and CXCR4 variation in an African population.
|
J Acquir Immune Defic Syndr
|
2005
|
0.95
|
60
|
Effect of a 4-month tea intervention on oxidative DNA damage among heavy smokers: role of glutathione S-transferase genotypes.
|
Cancer Epidemiol Biomarkers Prev
|
2004
|
0.95
|
61
|
CYP1A1 and GSTM1 polymorphisms in relation to lung cancer risk in Chinese women.
|
Cancer Lett
|
2004
|
0.94
|
62
|
Somatic alterations contributing to metastasis of a castration-resistant prostate cancer.
|
Hum Mutat
|
2013
|
0.92
|
63
|
Variation and evolution of the ABC transporter genes ABCB1, ABCC1, ABCG2, ABCG5 and ABCG8: implication for pharmacogenetics and disease.
|
Drug Metabol Drug Interact
|
2011
|
0.92
|
64
|
Structural analogues of smoothened intracellular loops as potent inhibitors of Hedgehog pathway and cancer cell growth.
|
J Med Chem
|
2007
|
0.91
|
65
|
Comparison of 1D and 2D NMR spectroscopy for metabolic profiling.
|
J Proteome Res
|
2008
|
0.91
|
66
|
Mutational studies of G553 in TM5 of ABCG2: a residue potentially involved in dimerization.
|
Biochemistry
|
2006
|
0.91
|
67
|
DHPLC screening of cystic fibrosis gene mutations.
|
Hum Mutat
|
2002
|
0.91
|
68
|
The abcc6a gene expression is required for normal zebrafish development.
|
J Invest Dermatol
|
2010
|
0.91
|
69
|
Molecular evolutionary analysis of ABCB5: the ancestral gene is a full transporter with potentially deleterious single nucleotide polymorphisms.
|
PLoS One
|
2011
|
0.91
|
70
|
Single-nucleotide polymorphism (SNP) analysis in the ABC half-transporter ABCG2 (MXR/BCRP/ABCP1).
|
Cancer Biol Ther
|
2003
|
0.91
|
71
|
Purification and ATP hydrolysis of the putative cholesterol transporters ABCG5 and ABCG8.
|
Biochemistry
|
2006
|
0.89
|
72
|
Degeneration of an ATP-binding cassette transporter gene, ABCC13, in different mammalian lineages.
|
Genomics
|
2004
|
0.89
|
73
|
Three ATP-binding cassette transporter genes, Abca14, Abca15, and Abca16, form a cluster on mouse Chromosome 7F3.
|
Mamm Genome
|
2004
|
0.89
|
74
|
Microsomal epoxide hydrolase polymorphisms and risk for advanced colorectal adenoma.
|
Cancer Epidemiol Biomarkers Prev
|
2005
|
0.89
|
75
|
Arginine 383 is a crucial residue in ABCG2 biogenesis.
|
Biochim Biophys Acta
|
2009
|
0.88
|
76
|
Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer.
|
Hum Genet
|
2009
|
0.88
|
77
|
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.
|
Hum Genet
|
2011
|
0.87
|
78
|
Haplotype structure and linkage disequilibrium in chemokine and chemokine receptor genes.
|
Hum Genomics
|
2004
|
0.87
|
79
|
Differential gene and microRNA expression between etoposide resistant and etoposide sensitive MCF7 breast cancer cell lines.
|
PLoS One
|
2012
|
0.86
|
80
|
Population distribution of the functional caspase-12 allele.
|
Hum Mutat
|
2006
|
0.86
|
81
|
Evolution of ABC transporters by gene duplication and their role in human disease.
|
Biol Chem
|
2011
|
0.85
|
82
|
Evolutionary analysis of a cluster of ATP-binding cassette (ABC) genes.
|
Mamm Genome
|
2003
|
0.85
|
83
|
Intensivist-led team approach to critical care of children with heart disease.
|
Pediatrics
|
2006
|
0.85
|
84
|
Common germline MDR1/ABCB1 functional polymorphisms and haplotypes modify susceptibility to colorectal cancers with high microsatellite instability.
|
Cancer Genet Cytogenet
|
2008
|
0.84
|
85
|
C to A single nucleotide polymorphism in intron 18 of the human MST1R (RON) gene that maps at 3p21.3.
|
Mol Cell Probes
|
2003
|
0.82
|
86
|
Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings.
|
Invest Ophthalmol Vis Sci
|
2002
|
0.82
|
87
|
A rare null allele potentially encoding a dominant-negative TRIM5alpha protein in Baka pygmies.
|
Virology
|
2009
|
0.82
|
88
|
Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia.
|
Hum Mutat
|
2002
|
0.82
|
89
|
Retrospective family study of childhood medulloblastoma.
|
Am J Med Genet A
|
2005
|
0.81
|
90
|
The livestock photosensitizer, phytoporphyrin (phylloerythrin), is a substrate of the ATP-binding cassette transporter ABCG2.
|
Res Vet Sci
|
2006
|
0.81
|
91
|
Frequency of thiopurine S-methyltransferase mutant alleles in indigenous and admixed Guatemalan patients with acute lymphoblastic leukemia.
|
Med Oncol
|
2013
|
0.81
|
92
|
The ERCC6 gene and age-related macular degeneration.
|
PLoS One
|
2010
|
0.80
|
93
|
HCV infection clearance with functional or non-functional caspase-12.
|
Scand J Gastroenterol
|
2007
|
0.79
|
94
|
Natural animal models of human genetic diseases.
|
Methods Mol Med
|
2002
|
0.78
|
95
|
Moving out: from sterol transport to drug resistance - the ABCG subfamily of efflux pumps.
|
Drug Metabol Drug Interact
|
2011
|
0.78
|
96
|
Molecular cloning and characterization of the human ErbB4 gene: identification of novel splice isoforms in the developing and adult brain.
|
PLoS One
|
2010
|
0.78
|
97
|
Polymorphisms in metalloproteinase-9 are associated with the risk for asthma in Mexican pediatric patients.
|
Hum Immunol
|
2013
|
0.77
|
98
|
ATM mutations and protein expression are not associated with familial B-CLL cases.
|
Leuk Res
|
2003
|
0.77
|
99
|
Characterisation of SNP haplotype structure in chemokine and chemokine receptor genes using CEPH pedigrees and statistical estimation.
|
Hum Genomics
|
2004
|
0.76
|
100
|
Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration.
|
Mol Vis
|
2012
|
0.76
|
101
|
Characterization of a new SNP c767A/T (Arg222Trp) in the candidate TSG FUS2 on human chromosome 3p21.3: prevalence in Asian populations and analysis of association with nasopharyngeal cancer.
|
Mol Cell Probes
|
2004
|
0.76
|
102
|
The authors reply.
|
Crit Care Med
|
2016
|
0.75
|
103
|
VATA-L: visual-analogue test assessing anosognosia for language impairment.
|
Clin Neuropsychol
|
2010
|
0.75
|
104
|
CHRM2 but not CHRM1 or CHRM3 polymorphisms are associated with asthma susceptibility in Mexican patients.
|
Mol Biol Rep
|
2014
|
0.75
|