Published in Proc Natl Acad Sci U S A on November 21, 2011
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De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 13.61
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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
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Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet (2008) 6.75
The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Nat Genet (2008) 6.72
Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Nat Genet (2002) 6.46
Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease. N Engl J Med (2010) 6.45
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Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet (2008) 5.44
K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science (2011) 5.40
Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease. Hum Mol Genet (2005) 5.35
A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians. Nat Genet (2009) 5.29
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature (2010) 5.26
De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet (2007) 4.99
Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators. Nat Genet (2012) 4.84
SMYD3 encodes a histone methyltransferase involved in the proliferation of cancer cells. Nat Cell Biol (2004) 4.72
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science (2013) 4.71
IFITM3 restricts the morbidity and mortality associated with influenza. Nature (2012) 4.66
An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis. Nat Genet (2003) 4.61
Long-term survival with glioblastoma multiforme. Brain (2007) 4.51
The functional spectrum of low-frequency coding variation. Genome Biol (2011) 4.42
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet (2012) 4.37
Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat Genet (2010) 4.36
A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat Genet (2007) 4.31
Genome-wide and fine-resolution association analysis of malaria in West Africa. Nat Genet (2009) 4.30
LRP6 mutation in a family with early coronary disease and metabolic risk factors. Science (2007) 4.27
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature (2012) 4.26
Genome-wide association study identifies multiple loci influencing human serum metabolite levels. Nat Genet (2012) 4.08
WNK4 regulates the balance between renal NaCl reabsorption and K+ secretion. Nat Genet (2003) 4.08
HJURP is a cell-cycle-dependent maintenance and deposition factor of CENP-A at centromeres. Cell (2009) 3.94
Identification of seven loci affecting mean telomere length and their association with disease. Nat Genet (2013) 3.87
Identification of molecular subtypes of glioblastoma by gene expression profiling. Oncogene (2003) 3.83
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Genomewide association between GLCCI1 and response to glucocorticoid therapy in asthma. N Engl J Med (2011) 3.80
Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat Genet (2012) 3.71
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Recognition of hemi-methylated DNA by the SRA protein UHRF1 by a base-flipping mechanism. Nature (2008) 3.62
Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule. Nat Genet (2006) 3.57
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Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
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Significant effect of polymorphisms in CYP2D6 and ABCC2 on clinical outcomes of adjuvant tamoxifen therapy for breast cancer patients. J Clin Oncol (2010) 3.21
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. Lancet (2013) 3.21
Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. Nat Genet (2012) 3.19
Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma. Nat Genet (2011) 3.19
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet (2011) 3.18
A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities. Nat Genet (2005) 3.15
Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nat Genet (2011) 3.15