Published in Am J Hum Genet on June 15, 2006
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Simultaneous discovery and testing of deletions for disease association in SNP genotyping studies. Am J Hum Genet (2007) 1.23
Forging links between human mental retardation-associated CNVs and mouse gene knockout models. PLoS Genet (2009) 1.23
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A Bayesian approach to copy-number-polymorphism analysis in nuclear pedigrees. Am J Hum Genet (2007) 1.01
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Structural genomic variation in ischemic stroke. Neurogenetics (2008) 0.93
Copy number variation in the cattle genome. Funct Integr Genomics (2012) 0.92
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Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma. PLoS One (2014) 0.88
Copy number variations (CNVs) identified in Korean individuals. BMC Genomics (2008) 0.86
Genome-wide copy number variations in Oryza sativa L. BMC Genomics (2013) 0.86
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The International HapMap Project. Nature (2003) 73.65
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A high-resolution survey of deletion polymorphism in the human genome. Nat Genet (2005) 16.99
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Complex SNP-related sequence variation in segmental genome duplications. Nat Genet (2004) 5.90
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Polymorphically duplicated genes: their relevance to phenotypic variation in humans. Ann Med (2003) 2.50
Identification of frequent chromosome copy-number polymorphisms by use of high-resolution single-nucleotide-polymorphism arrays. Am J Hum Genet (2006) 1.60
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med (2009) 33.09
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Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
A collection of breast cancer cell lines for the study of functionally distinct cancer subtypes. Cancer Cell (2006) 27.36
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Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Recent segmental duplications in the human genome. Science (2002) 21.30
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet (2008) 20.73
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
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New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
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Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Genomic and transcriptional aberrations linked to breast cancer pathophysiologies. Cancer Cell (2006) 16.05
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet (2008) 15.89
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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
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Complete Khoisan and Bantu genomes from southern Africa. Nature (2010) 9.06
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