Published in Nat Rev Genet on May 01, 2010
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Revisiting Mendelian disorders through exome sequencing. Hum Genet (2011) 2.57
Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia. Am J Hum Genet (2012) 1.47
Strategic approaches to unraveling genetic causes of cardiovascular diseases. Circ Res (2011) 1.31
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Transcriptome analysis of distinct mouse strains reveals kinesin light chain-1 splicing as an amyloid-β accumulation modifier. Proc Natl Acad Sci U S A (2014) 0.85
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Discovery of mutations for Mendelian disorders. Hum Genet (2016) 0.82
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The Norwegian preeclampsia family cohort study: a new resource for investigating genetic aspects and heritability of preeclampsia and related phenotypes. BMC Pregnancy Childbirth (2015) 0.75
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Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
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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
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
A polymorphic DNA marker genetically linked to Huntington's disease. Nature (1984) 16.71
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Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
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Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet (2007) 2.09
Application of genome-wide single nucleotide polymorphism typing: simple association and beyond. PLoS Genet (2006) 2.02
Inflammation, the complement system and the diseases of aging. Neurobiol Aging (2005) 1.70
The complement cascade: Yin-Yang in neuroinflammation--neuro-protection and -degeneration. J Neurochem (2008) 1.48
The law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases. Hum Mol Genet (2004) 1.36
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Finding the missing heritability of complex diseases. Nature (2009) 67.95
A common allele on chromosome 9 associated with coronary heart disease. Science (2007) 20.37
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Prevalence of hepatic steatosis in an urban population in the United States: impact of ethnicity. Hepatology (2004) 18.86
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet (2007) 14.99
Development of human protein reference database as an initial platform for approaching systems biology in humans. Genome Res (2003) 14.79
Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat Genet (2007) 13.78
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
A survey of genetic human cortical gene expression. Nat Genet (2007) 12.04
Genome-wide association study of blood pressure and hypertension. Nat Genet (2009) 11.54
TREM2 variants in Alzheimer's disease. N Engl J Med (2012) 11.35
Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet (2008) 10.87
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet (2011) 9.10
Haplotype inference in random population samples. Am J Hum Genet (2002) 8.07
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. Am J Hum Genet (2006) 7.89
A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. J Clin Psychiatry (2007) 7.23
GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers. Neuron (2007) 6.88
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med (2010) 6.84
Parkinson's disease. Lancet (2009) 6.60
Functional brain abnormalities in young adults at genetic risk for late-onset Alzheimer's dementia. Proc Natl Acad Sci U S A (2003) 6.46
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature (2003) 6.40
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet (2006) 6.39
Toxic proteins in neurodegenerative disease. Science (2002) 5.82
Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies. Nat Genet (2004) 5.78
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet (2006) 5.50
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet (2008) 5.28
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol (2012) 5.18
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. J Clin Invest (2008) 5.05
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature (2005) 4.92
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet (2012) 4.87
A genome-wide linkage and association scan reveals novel loci for autism. Nature (2009) 4.76
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci U S A (2005) 4.64
Biomarkers for Alzheimer's disease: academic, industry and regulatory perspectives. Nat Rev Drug Discov (2010) 4.55
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet (2009) 4.28
Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet (2009) 4.10
Pnpla3I148M knockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis. Hepatology (2014) 4.01
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain (2009) 4.01
Common variants in KCNN3 are associated with lone atrial fibrillation. Nat Genet (2010) 3.97
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol (2007) 3.93
PCSK9: a convertase that coordinates LDL catabolism. J Lipid Res (2008) 3.92
Genomic alterations in cultured human embryonic stem cells. Nat Genet (2005) 3.89
Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol. J Clin Invest (2002) 3.85
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet (2012) 3.80
Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nat Genet (2009) 3.80
Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice. Nature (2010) 3.77
Genome-wide association study of PR interval. Nat Genet (2010) 3.73
Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet (2012) 3.73
Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat Genet (2012) 3.71
Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol (2013) 3.70
Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol (2009) 3.62
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol (2010) 3.61
Molecular biology of PCSK9: its role in LDL metabolism. Trends Biochem Sci (2007) 3.59
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet (2010) 3.55
Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation. J Biol Chem (2007) 3.45
Evolutionary toggling of the MAPT 17q21.31 inversion region. Nat Genet (2008) 3.42
A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis. J Biol Chem (2009) 3.41
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
From the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene. Proc Natl Acad Sci U S A (2008) 3.39
Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote. Am J Hum Genet (2006) 3.38
Genetic control of human brain transcript expression in Alzheimer disease. Am J Hum Genet (2009) 3.35
Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. Hum Mol Genet (2010) 3.34
Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging (2011) 3.27
Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus. Nat Commun (2011) 3.23
CHIP and Hsp70 regulate tau ubiquitination, degradation and aggregation. Hum Mol Genet (2004) 3.12
Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion. Proc Natl Acad Sci U S A (2002) 3.09
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. PLoS Genet (2011) 3.07
Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet (2002) 3.07
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol (2008) 3.03
Correlations between apolipoprotein E epsilon4 gene dose and brain-imaging measurements of regional hypometabolism. Proc Natl Acad Sci U S A (2005) 3.02
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet (2011) 2.97
Biological markers for therapeutic trials in Alzheimer's disease. Proceedings of the biological markers working group; NIA initiative on neuroimaging in Alzheimer's disease. Neurobiol Aging (2003) 2.96
Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet (2013) 2.92
Human embryonic stem cells have a unique epigenetic signature. Genome Res (2006) 2.89
Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies. J Neurochem (2011) 2.82
A genome-wide linkage analysis investigating the determinants of blood pressure in whites and African Americans. Am J Hypertens (2003) 2.76
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet (2002) 2.74
Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels. Hum Mol Genet (2002) 2.71
Sequence variations in the public human genome data reflect a bottlenecked population history. Proc Natl Acad Sci U S A (2002) 2.70
Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons. Neuron (2002) 2.65
Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain (2012) 2.65
Alpha-synuclein implicated in Parkinson's disease is present in extracellular biological fluids, including human plasma. FASEB J (2003) 2.64
Atypical angiopoietin-like protein that regulates ANGPTL3. Proc Natl Acad Sci U S A (2012) 2.62
Neuropathological assessment of Parkinson's disease: refining the diagnostic criteria. Lancet Neurol (2009) 2.60
Repeat expansion in C9ORF72 in Alzheimer's disease. N Engl J Med (2012) 2.58
Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One (2010) 2.57
Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. Circulation (2009) 2.55
The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection. Genome Res (2004) 2.54
Public stem cell banks: considerations of justice in stem cell research and therapy. Hastings Cent Rep (2004) 2.53
Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test. Am J Hum Genet (2003) 2.51
Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. Hum Mol Genet (2010) 2.51
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol (2010) 2.48
ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion. J Biol Chem (2003) 2.48