Published in Eur J Hum Genet on February 28, 2007
How culture shaped the human genome: bringing genetics and the human sciences together. Nat Rev Genet (2010) 3.21
Worldwide population differentiation at disease-associated SNPs. BMC Med Genomics (2008) 2.32
Inter-chromosomal variation in the pattern of human population genetic structure. Hum Genomics (2011) 0.98
Positive selection of protective variants for type 2 diabetes from the Neolithic onward: a case study in Central Asia. Eur J Hum Genet (2013) 0.89
Testing the thrifty gene hypothesis: the Gly482Ser variant in PPARGC1A is associated with BMI in Tongans. BMC Med Genet (2011) 0.83
Fine-scale detection of population-specific linkage disequilibrium using haplotype entropy in the human genome. BMC Genet (2010) 0.79
Lack of direct evidence for natural selection at the candidate thrifty gene locus, PPARGC1A. BMC Med Genet (2016) 0.75
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Renal outcomes with telmisartan, ramipril, or both, in people at high vascular risk (the ONTARGET study): a multicentre, randomised, double-blind, controlled trial. Lancet (2008) 13.34
Risk factors for ischaemic and intracerebral haemorrhagic stroke in 22 countries (the INTERSTROKE study): a case-control study. Lancet (2010) 11.25
Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat (2009) 9.66
Genetic history of an archaic hominin group from Denisova Cave in Siberia. Nature (2010) 8.99
Urinary sodium and potassium excretion, mortality, and cardiovascular events. N Engl J Med (2014) 7.54
Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancer. Sci Transl Med (2010) 6.39
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet (2006) 5.29
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nat Genet (2012) 5.28
Global diversity in the human salivary microbiome. Genome Res (2009) 5.16
Correlation between genetic and geographic structure in Europe. Curr Biol (2008) 5.02
Association of urinary sodium and potassium excretion with blood pressure. N Engl J Med (2014) 4.86
Lipids, lipoproteins, and apolipoproteins as risk markers of myocardial infarction in 52 countries (the INTERHEART study): a case-control study. Lancet (2008) 4.37
The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time. Am J Hum Genet (2003) 4.34
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet (2003) 4.34
HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics (2004) 4.00
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
HomozygosityMapper--an interactive approach to homozygosity mapping. Nucleic Acids Res (2009) 3.86
A new approach for using genome scans to detect recent positive selection in the human genome. PLoS Biol (2007) 3.71
Denisova admixture and the first modern human dispersals into Southeast Asia and Oceania. Am J Hum Genet (2011) 3.53
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol (2012) 3.29
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25
A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat Genet (2002) 3.19
Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium. J Natl Cancer Inst (2010) 3.18
A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet (2009) 3.06
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet (2008) 3.00
Melanesian and Asian origins of Polynesians: mtDNA and Y chromosome gradients across the Pacific. Mol Biol Evol (2006) 2.98
Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes. Am J Hum Genet (2010) 2.98
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet (2013) 2.91
ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics (2005) 2.90
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet (2005) 2.83
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet (2007) 2.75
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet (2008) 2.74
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet (2005) 2.70
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci (2009) 2.54
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet (2007) 2.46
Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol. Hum Mol Genet (2004) 2.45
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet (2004) 2.40
Mitochondrial DNA and human evolution. Annu Rev Genomics Hum Genet (2005) 2.36
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet (2002) 2.34
Worldwide population differentiation at disease-associated SNPs. BMC Med Genomics (2008) 2.32
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A (2006) 2.31
A genome scan to detect candidate regions influenced by local natural selection in human populations. Mol Biol Evol (2003) 2.30
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest (2011) 2.21
Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes. J Hum Genet (2005) 2.19
A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals. Science (2007) 2.15
Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. Circulation (2003) 2.12
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet (2009) 2.10
Molecular evolution of Pediculus humanus and the origin of clothing. Curr Biol (2003) 2.09
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet (2008) 2.09
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet (2009) 2.09
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. Nat Med (2009) 2.08
Evaluation of a potential epigenetic biomarker by quantitative methyl-single nucleotide polymorphism analysis. Electrophoresis (2002) 2.07
Mechanism of all-trans retinoic acid effect on tumor-associated myeloid-derived suppressor cells. Cancer Res (2007) 2.06
Common genetic variants of the human uromodulin gene regulate transcription and predict plasma uric acid levels. Kidney Int (2013) 2.05
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. Hum Mol Genet (2009) 2.03
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet (2004) 2.03
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat (2008) 2.03
Wnt signaling and Dupuytren's disease. N Engl J Med (2011) 2.02
Genome-wide analysis indicates more Asian than Melanesian ancestry of Polynesians. Am J Hum Genet (2008) 2.02
Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. Nat Neurosci (2010) 2.00
The portability of tagSNPs across populations: a worldwide survey. Genome Res (2006) 1.99
CYP2D6 worldwide genetic variation shows high frequency of altered activity variants and no continental structure. Pharmacogenet Genomics (2007) 1.97
A comprehensive survey of human Y-chromosomal microsatellites. Am J Hum Genet (2004) 1.97
HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter. Genome Res (2012) 1.96
Demographic history of Oceania inferred from genome-wide data. Curr Biol (2010) 1.93
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ Cardiovasc Genet (2008) 1.93
A genome-wide association study identifies five loci influencing facial morphology in Europeans. PLoS Genet (2012) 1.91
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet (2012) 1.91
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications. Am J Hum Genet (2010) 1.88
NAD(P)H oxidase and multidrug resistance protein genetic polymorphisms are associated with doxorubicin-induced cardiotoxicity. Circulation (2005) 1.87
Reduced Y-chromosome, but not mitochondrial DNA, diversity in human populations from West New Guinea. Am J Hum Genet (2002) 1.86
Effect of telmisartan on renal outcomes: a randomized trial. Ann Intern Med (2009) 1.85
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest (2010) 1.85
Human placenta is a potent hematopoietic niche containing hematopoietic stem and progenitor cells throughout development. Cell Stem Cell (2009) 1.85
Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies. Gastroenterology (2013) 1.83
Molecular analysis reveals tighter social regulation of immigration in patrilocal populations than in matrilocal populations. Proc Natl Acad Sci U S A (2005) 1.83
Evaluation of saliva as a source of human DNA for population and association studies. Anal Biochem (2006) 1.81