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1
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Global variation in copy number in the human genome.
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Nature
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2006
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57.50
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2
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Detection of large-scale variation in the human genome.
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Nat Genet
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2004
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49.18
|
|
3
|
The diploid genome sequence of an individual human.
|
PLoS Biol
|
2007
|
44.80
|
|
4
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Origins and functional impact of copy number variation in the human genome.
|
Nature
|
2009
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23.63
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|
5
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Structural variation of chromosomes in autism spectrum disorder.
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Am J Hum Genet
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2008
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15.51
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|
6
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Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
|
Nat Genet
|
2007
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14.05
|
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7
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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
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Am J Hum Genet
|
2010
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13.70
|
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8
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.
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Nature
|
2010
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12.27
|
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9
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Prepublication data sharing.
|
Nature
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2009
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12.24
|
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10
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Copy number variation: new insights in genome diversity.
|
Genome Res
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2006
|
8.66
|
|
11
|
Genome assembly comparison identifies structural variants in the human genome.
|
Nat Genet
|
2006
|
6.93
|
|
12
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Challenges and standards in integrating surveys of structural variation.
|
Nat Genet
|
2007
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6.05
|
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13
|
Accurate and reliable high-throughput detection of copy number variation in the human genome.
|
Genome Res
|
2006
|
5.50
|
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14
|
Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma.
|
Nat Genet
|
2009
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4.52
|
|
15
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The Database of Genomic Variants: a curated collection of structural variation in the human genome.
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Nucleic Acids Res
|
2013
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4.42
|
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16
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Public data archives for genomic structural variation.
|
Nat Genet
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2010
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3.92
|
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17
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Copy-number variation in control population cohorts.
|
Hum Mol Genet
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2007
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3.88
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18
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Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.
|
Nat Biotechnol
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2011
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3.25
|
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19
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Towards a comprehensive structural variation map of an individual human genome.
|
Genome Biol
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2010
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2.79
|
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20
|
Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain.
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Nat Struct Mol Biol
|
2011
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2.73
|
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21
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Global and unbiased detection of splice junctions from RNA-seq data.
|
Genome Biol
|
2010
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2.32
|
|
22
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Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.
|
Proc Natl Acad Sci U S A
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2008
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2.22
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23
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Linkage disequilibrium patterns vary substantially among populations.
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Eur J Hum Genet
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2005
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1.73
|
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24
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Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2.
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Am J Med Genet A
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2006
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1.70
|
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25
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Strategies for the detection of copy number and other structural variants in the human genome.
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Hum Genomics
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2006
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1.32
|
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26
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Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing.
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Hum Mutat
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2013
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1.26
|
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27
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Genome-wide association study of susceptibility loci for cervical cancer.
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J Natl Cancer Inst
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2013
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1.22
|
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28
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Diagnostic interpretation of array data using public databases and internet sources.
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Hum Mutat
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2012
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1.16
|
|
29
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Frequent appearance of novel protein-coding sequences by frameshift translation.
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Genomics
|
2006
|
1.14
|
|
30
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Genetic variation in a haplotype block spanning IDE influences Alzheimer disease.
|
Hum Mutat
|
2003
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1.14
|
|
31
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Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids.
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Am J Hum Genet
|
2012
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1.13
|
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32
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Identification of novel exons and transcribed regions by chimpanzee transcriptome sequencing.
|
Genome Biol
|
2010
|
1.13
|
|
33
|
Elevated amyloid beta protein (Abeta42) and late onset Alzheimer's disease are associated with single nucleotide polymorphisms in the urokinase-type plasminogen activator gene.
|
Hum Mol Genet
|
2004
|
1.13
|
|
34
|
Haplotypes extending across ACE are associated with Alzheimer's disease.
|
Hum Mol Genet
|
2003
|
1.11
|
|
35
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Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.
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J Clin Invest
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2014
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1.00
|
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36
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Towards compendia of negative genetic association studies: an example for Alzheimer disease.
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Hum Genet
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2005
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1.00
|
|
37
|
Sequence variants of IDE are associated with the extent of beta-amyloid deposition in the Alzheimer's disease brain.
|
Neurobiol Aging
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2005
|
0.99
|
|
38
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Exome RNA sequencing reveals rare and novel alternative transcripts.
|
Nucleic Acids Res
|
2012
|
0.96
|
|
39
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Mechanisms of formation of structural variation in a fully sequenced human genome.
|
Hum Mutat
|
2012
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0.95
|
|
40
|
Variants of CYP46A1 may interact with age and APOE to influence CSF Abeta42 levels in Alzheimer's disease.
|
Hum Genet
|
2004
|
0.92
|
|
41
|
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
|
Am J Hum Genet
|
2012
|
0.92
|
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42
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Longitudinal memory performance during normal aging: twin association models of APOE and other Alzheimer candidate genes.
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Behav Genet
|
2006
|
0.91
|
|
43
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Characterization of copy number-stable regions in the human genome.
|
Hum Mutat
|
2011
|
0.90
|
|
44
|
Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.
|
Epilepsia
|
2012
|
0.83
|
|
45
|
Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder.
|
BMC Med Genet
|
2012
|
0.82
|
|
46
|
Characterizing and interpreting genetic variation from personal genome sequencing.
|
Methods Mol Biol
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2012
|
0.79
|
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47
|
RNA-binding protein QKI regulates Glial fibrillary acidic protein expression in human astrocytes.
|
Hum Mol Genet
|
2013
|
0.78
|