|
1
|
Global variation in copy number in the human genome.
|
Nature
|
2006
|
57.50
|
|
2
|
Mapping copy number variation by population-scale genome sequencing.
|
Nature
|
2011
|
12.55
|
|
3
|
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.
|
Nature
|
2010
|
12.27
|
|
4
|
A systematic survey of loss-of-function variants in human protein-coding genes.
|
Science
|
2012
|
12.25
|
|
5
|
Recurrent 16p11.2 microdeletions in autism.
|
Hum Mol Genet
|
2007
|
6.75
|
|
6
|
Towards a comprehensive structural variation map of an individual human genome.
|
Genome Biol
|
2010
|
2.79
|
|
7
|
Mismatch induced speciation in Salmonella: model and data.
|
Philos Trans R Soc Lond B Biol Sci
|
2006
|
2.11
|
|
8
|
DeNovoGear: de novo indel and point mutation discovery and phasing.
|
Nat Methods
|
2013
|
1.65
|
|
9
|
Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia.
|
Schizophr Res
|
2011
|
1.28
|
|
10
|
Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation.
|
Genetics
|
2009
|
1.13
|
|
11
|
Haplotypic background of a private allele at high frequency in the Americas.
|
Mol Biol Evol
|
2009
|
1.08
|
|
12
|
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
|
PLoS Genet
|
2013
|
1.08
|
|
13
|
Inverted duplications on acentric markers: mechanism of formation.
|
Hum Mol Genet
|
2009
|
0.93
|
|
14
|
Reduced burden of very large and rare CNVs in bipolar affective disorder.
|
Bipolar Disord
|
2013
|
0.86
|
|
15
|
A protein allergen microarray detects specific IgE to pollen surface, cytoplasmic, and commercial allergen extracts.
|
PLoS One
|
2010
|
0.85
|
|
16
|
Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data.
|
Hum Genet
|
2011
|
0.85
|
|
17
|
A review of genome-wide approaches to study the genetic basis for spermatogenic defects.
|
Methods Mol Biol
|
2013
|
0.83
|
|
18
|
Multispecies Purification of Testicular Germ Cells.
|
Biol Reprod
|
2016
|
0.75
|
|
19
|
Validation of Spanish language dyspepsia questionnaire.
|
Dig Dis Sci
|
2002
|
0.75
|