Published in Nat Genet on March 06, 2011
Rate of de novo mutations and the importance of father's age to disease risk. Nature (2012) 11.92
Variant of TREM2 associated with the risk of Alzheimer's disease. N Engl J Med (2012) 10.16
A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. Nature (2012) 8.10
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet (2011) 6.36
Haplotype phasing: existing methods and new developments. Nat Rev Genet (2011) 4.66
Mutations in BRIP1 confer high risk of ovarian cancer. Nat Genet (2011) 3.06
Seventy-five genetic loci influencing the human red blood cell. Nature (2012) 2.77
Identification of low-frequency variants associated with gout and serum uric acid levels. Nat Genet (2011) 2.48
Imputation of the rare HOXB13 G84E mutation and cancer risk in a large population-based cohort. PLoS Genet (2015) 2.19
Current status of genome-wide association studies in cancer. Hum Genet (2011) 2.14
Molecular genetic studies of complex phenotypes. Transl Res (2011) 1.95
A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway. Cell (2013) 1.75
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet (2013) 1.72
Informed conditioning on clinical covariates increases power in case-control association studies. PLoS Genet (2012) 1.57
Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing. Heart Rhythm (2014) 1.55
Deep whole-genome sequencing of 100 southeast Asian Malays. Am J Hum Genet (2013) 1.55
Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. Diabetologia (2012) 1.55
Exome sequencing and complex disease: practical aspects of rare variant association studies. Hum Mol Genet (2012) 1.52
Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: a genome-wide association study of 13,372 participants. Heart Rhythm (2012) 1.43
Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'. Eur J Hum Genet (2014) 1.41
Mapping rare and common causal alleles for complex human diseases. Cell (2011) 1.38
Whole-exome sequencing and imaging genetics identify functional variants for rate of change in hippocampal volume in mild cognitive impairment. Mol Psychiatry (2013) 1.30
Next-generation association studies for complex traits. Nat Genet (2011) 1.30
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. J Med Genet (2013) 1.27
In search of low-frequency and rare variants affecting complex traits. Hum Mol Genet (2013) 1.14
Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data. PLoS Genet (2015) 1.12
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity. Eur J Hum Genet (2012) 1.12
Strategies and utility of imputed SNP genotypes for genomic analysis in dairy cattle. BMC Genomics (2012) 1.10
Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. Circ Cardiovasc Genet (2012) 1.10
Genome-wide association analysis of imputed rare variants: application to seven common complex diseases. Genet Epidemiol (2012) 1.06
Imputation of coding variants in African Americans: better performance using data from the exome sequencing project. Bioinformatics (2013) 1.05
Identity-by-descent-based phasing and imputation in founder populations using graphical models. Genet Epidemiol (2011) 1.05
Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets. PLoS Genet (2013) 1.04
DNA sequencing: clinical applications of new DNA sequencing technologies. Circulation (2012) 1.03
Melanesian blond hair is caused by an amino acid change in TYRP1. Science (2012) 1.01
Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs. Eur J Hum Genet (2014) 1.01
Re-ranking sequencing variants in the post-GWAS era for accurate causal variant identification. PLoS Genet (2013) 1.00
Fast and accurate long-range phasing in a UK Biobank cohort. Nat Genet (2016) 1.00
From genetic discovery to future personalized health research. N Biotechnol (2012) 0.98
Accurate imputation of rare and common variants in a founder population from a small number of sequenced individuals. Genet Epidemiol (2012) 0.96
Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium. Am J Hum Genet (2012) 0.94
Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome. Am J Hum Genet (2014) 0.93
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. Nat Genet (2014) 0.93
Genomic view of bipolar disorder revealed by whole genome sequencing in a genetic isolate. PLoS Genet (2014) 0.92
Atrial fibrillation: the role of common and rare genetic variants. Eur J Hum Genet (2013) 0.92
Systems biology and cardiac arrhythmias. Lancet (2012) 0.92
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. Hum Mol Genet (2014) 0.90
Hunting human disease genes: lessons from the past, challenges for the future. Hum Genet (2013) 0.90
A comprehensive SNP and indel imputability database. Bioinformatics (2013) 0.90
Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals. J Hum Genet (2015) 0.89
Small effective population size and genetic homogeneity in the Val Borbera isolate. Eur J Hum Genet (2012) 0.89
Genome-wide association studies of late-onset cardiovascular disease. J Mol Cell Cardiol (2015) 0.89
Using population isolates in genetic association studies. Brief Funct Genomics (2014) 0.87
Sampling strategies for rare variant tests in case-control studies. Eur J Hum Genet (2012) 0.87
The "missing" link in atrial fibrillation heritability. J Electrocardiol (2011) 0.87
Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels. Nat Commun (2015) 0.86
Dating rare mutations from small samples with dense marker data. Genetics (2014) 0.86
Educational attainment: a genome wide association study in 9538 Australians. PLoS One (2011) 0.86
Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline. Hum Mutat (2014) 0.85
Leveraging prior information to detect causal variants via multi-variant regression. PLoS Comput Biol (2013) 0.85
Principal component analysis reveals the 1000 Genomes Project does not sufficiently cover the human genetic diversity in Asia. Front Genet (2013) 0.84
Clinical considerations of heritable factors in common heart failure. Circ Cardiovasc Genet (2011) 0.84
Perspectives on the use of multiple sclerosis risk genes for prediction. PLoS One (2011) 0.84
Genetic variants and their interactions in disease risk prediction - machine learning and network perspectives. BioData Min (2013) 0.83
Local exome sequences facilitate imputation of less common variants and increase power of genome wide association studies. PLoS One (2013) 0.83
Determining the causes and consequences of nicotine dependence: emerging genetic research methods. Curr Psychiatry Rep (2014) 0.82
Using genetically isolated populations to understand the genomic basis of disease. Genome Med (2014) 0.81
PAIR: polymorphic Alu insertion recognition. BMC Bioinformatics (2012) 0.80
Strategies for Imputing and Analyzing Rare Variants in Association Studies. Trends Genet (2015) 0.79
Regularized rare variant enrichment analysis for case-control exome sequencing data. Genet Epidemiol (2013) 0.79
Human complex trait genetics: lifting the lid of the genomics toolbox - from pathways to prediction. Curr Genomics (2012) 0.78
Human genetics as a foundation for innovative drug development. Nat Biotechnol (2013) 0.78
Rare Variants Association Analysis in Large-Scale Sequencing Studies at the Single Locus Level. PLoS Comput Biol (2016) 0.78
Systematic assessment of imputation performance using the 1000 Genomes reference panels. Brief Bioinform (2014) 0.78
Imputation of rare variants in next-generation association studies. Hum Hered (2013) 0.78
Post-genomic update on a classical candidate gene for coronary artery disease: ESR1. Circ Cardiovasc Genet (2011) 0.77
Promoter polymorphism G-6A, which modulates angiotensinogen gene expression, is associated with non-familial sick sinus syndrome. PLoS One (2012) 0.77
Merging Electronic Health Record Data and Genomics for Cardiovascular Research: A Science Advisory From the American Heart Association. Circ Cardiovasc Genet (2016) 0.77
Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus. Am J Med Genet A (2015) 0.76
Chamber Specific Gene Expression Landscape of the Zebrafish Heart. PLoS One (2016) 0.76
Molgenis-impute: imputation pipeline in a box. BMC Res Notes (2015) 0.76
Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. Nat Genet (2017) 0.75
Trans-ethnic follow-up of breast cancer GWAS hits using the preferential linkage disequilibrium approach. Oncotarget (2016) 0.75
Mining beyond the exome. BioData Min (2011) 0.75
Epigenetic and genetic components of height regulation. Nat Commun (2016) 0.75
gsSKAT: Rapid gene set analysis and multiple testing correction for rare-variant association studies using weighted linear kernels. Genet Epidemiol (2017) 0.75
Transforming Growth Factor-β1 T869C Gene Polymorphism Is Associated with Acquired Sick Sinus Syndrome via Linking a Higher Serum Protein Level. PLoS One (2016) 0.75
Inherited bradyarrhythmia: A diverse genetic background. J Arrhythm (2015) 0.75
Exploring predisposition and treatment response--the promise of genomics. Prog Cardiovasc Dis (2012) 0.75
Functional and Structural Consequence of Rare Exonic Single Nucleotide Polymorphisms: One Story, Two Tales. Genome Biol Evol (2015) 0.75
Cardiac troponin T is necessary for normal development in the embryonic chick heart. J Anat (2016) 0.75
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
A haplotype map of the human genome. Nature (2005) 105.70
A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet (2007) 52.68
Prediction of deleterious human alleles. Hum Mol Genet (2001) 21.00
Detection of sharing by descent, long-range phasing and haplotype imputation. Nat Genet (2008) 9.69
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. Nat Genet (2010) 7.08
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature (2003) 5.94
A family of microRNAs encoded by myosin genes governs myosin expression and muscle performance. Dev Cell (2009) 5.28
Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum Mol Genet (2003) 4.63
A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet (1996) 4.38
Several common variants modulate heart rate, PR interval and QRS duration. Nat Genet (2010) 3.34
Estimating allele age. Annu Rev Genomics Hum Genet (2000) 3.30
Myosin heavy chain isoform expression in the failing and nonfailing human heart. Circ Res (2000) 3.08
Cardiac alpha- and beta-myosin heavy chain genes are organized in tandem. Proc Natl Acad Sci U S A (1984) 3.05
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest (2003) 3.00
New insights into pacemaker activity: promoting understanding of sick sinus syndrome. Circulation (2007) 2.89
Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel. N Engl J Med (2006) 2.69
Multidrug resistance polypeptide 1 (MDR1, ABCB1) variant 3435C>T affects mRNA stability. Pharmacogenet Genomics (2005) 2.68
Contribution of sodium channel mutations to bradycardia and sinus node dysfunction in LQT3 families. Circ Res (2003) 2.14
Association between two mu-opioid receptor gene (OPRM1) haplotype blocks and drug or alcohol dependence. Hum Mol Genet (2006) 1.93
Cardiac pacing. N Engl J Med (1996) 1.78
The sick sinus syndrome in atrial disease. JAMA (1968) 1.74
Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians. Am J Hum Genet (1996) 1.68
Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. Circulation (2005) 1.67
Genome-wide association analysis identifies multiple loci related to resting heart rate. Hum Mol Genet (2010) 1.67
Myosin VI rewrites the rules for myosin motors. Cell (2010) 1.43
Patterns of expression in the developing myocardium: towards a morphologically integrated transcriptional model. Cardiovasc Res (1998) 1.34
Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects. Hum Mol Genet (2010) 1.22
Structural organization of the human cardiac alpha-myosin heavy chain gene (MYH6). Genomics (1993) 0.94
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
A high-resolution recombination map of the human genome. Nat Genet (2002) 28.66
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Genetics of gene expression and its effect on disease. Nature (2008) 21.35
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet (2007) 19.18
Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet (2006) 19.03
A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science (2007) 18.96
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet (2010) 14.81
A common inversion under selection in Europeans. Nat Genet (2005) 13.66
A common variant associated with prostate cancer in European and African populations. Nat Genet (2006) 13.47
A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet (2007) 13.28
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25