Published in Brain on October 20, 2009
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Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature (2008) 20.31
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet (2009) 3.87
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Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet (2009) 2.12
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Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
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Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
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Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
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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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet (2009) 11.73
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Complete Khoisan and Bantu genomes from southern Africa. Nature (2010) 9.06
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The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science (2009) 8.23
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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21