Published in Am J Med Genet A on May 24, 2012
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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature (2010) 6.26
K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science (2011) 5.40
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Somatic mutations affect key pathways in lung adenocarcinoma. Nature (2008) 30.02
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Landscape of transcription in human cells. Nature (2012) 20.18
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
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Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
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Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Replicating genotype-phenotype associations. Nature (2007) 16.11
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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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Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
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
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 13.61
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med (2010) 13.57
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell (2012) 12.32
Genome architecture, rearrangements and genomic disorders. Trends Genet (2002) 12.26
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
Prepublication data sharing. Nature (2009) 12.24
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10
A Bayesian networks approach for predicting protein-protein interactions from genomic data. Science (2003) 12.07
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Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet (2009) 11.73
Genome-wide association study of blood pressure and hypertension. Nat Genet (2009) 11.54
High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med (2002) 11.28
Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1. Science (2011) 11.12
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet (2008) 10.87
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
SNPdetector: a software tool for sensitive and accurate SNP detection. PLoS Comput Biol (2005) 10.04
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell (2007) 9.81
The Atlas genome assembly system. Genome Res (2004) 9.78
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res (2002) 9.50
Genomic analysis of regulatory network dynamics reveals large topological changes. Nature (2004) 9.32
Spatio-temporal transcriptome of the human brain. Nature (2011) 9.19
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res (2004) 9.18
ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia. Genome Res (2012) 9.13
Complete Khoisan and Bantu genomes from southern Africa. Nature (2010) 9.06
Automating sequence-based detection and genotyping of SNPs from diploid samples. Nat Genet (2006) 9.04
Mechanisms of change in gene copy number. Nat Rev Genet (2009) 9.01
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature (2012) 8.91
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The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science (2009) 8.23
Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science (2005) 8.20