Published in Investig Genet on May 20, 2013
Simultaneous Whole Mitochondrial Genome Sequencing with Short Overlapping Amplicons Suitable for Degraded DNA Using the Ion Torrent Personal Genome Machine. Hum Mutat (2015) 0.77
High Y-chromosomal diversity and low relatedness between paternal lineages on a communal scale in the Western European Low Countries during the surname establishment. Heredity (Edinb) (2015) 0.77
Arlequin (version 3.0): an integrated software package for population genetics data analysis. Evol Bioinform Online (2007) 54.21
The detection of disease clustering and a generalized regression approach. Cancer Res (1967) 39.90
Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. Am J Hum Genet (2007) 24.68
CLUMPP: a cluster matching and permutation program for dealing with label switching and multimodality in analysis of population structure. Bioinformatics (2007) 16.52
Fast model-based estimation of ancestry in unrelated individuals. Genome Res (2009) 15.63
Genes mirror geography within Europe. Nature (2008) 14.23
Estimation of individual admixture: analytical and study design considerations. Genet Epidemiol (2005) 11.00
Synthetic maps of human gene frequencies in Europeans. Science (1978) 10.35
Spatial autocorrelation analysis of individual multiallele and multilocus genetic structure. Heredity (Edinb) (1999) 7.03
Correlation between genetic and geographic structure in Europe. Curr Biol (2008) 5.02
A fast, powerful method for detecting identity by descent. Am J Hum Genet (2011) 4.26
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet (2008) 2.09
A model-based approach for analysis of spatial structure in genetic data. Nat Genet (2012) 2.02
Estimating diversifying selection and functional constraint in the presence of recombination. Genetics (2005) 2.02
The genetic history of Europeans. Trends Genet (2012) 1.63
The architecture of long-range haplotypes shared within and across populations. Mol Biol Evol (2011) 1.50
Comparing spatial maps of human population-genetic variation using Procrustes analysis. Stat Appl Genet Mol Biol (2010) 1.48
SPLATCHE2: a spatially explicit simulation framework for complex demography, genetic admixture and recombination. Bioinformatics (2010) 1.26
Historical population movements in Europe influence genetic relationships in modern samples. Hum Biol (1996) 1.23
Principal component analysis under population genetic models of range expansion and admixture. Mol Biol Evol (2010) 1.22
The genetic structure of the Swedish population. PLoS One (2011) 1.05
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat (2009) 9.66
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
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet (2006) 5.36
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
Correlation between genetic and geographic structure in Europe. Curr Biol (2008) 5.02
An Aboriginal Australian genome reveals separate human dispersals into Asia. Science (2011) 4.84
The role of selection in the evolution of human mitochondrial genomes. Genetics (2005) 4.56
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
Denisova admixture and the first modern human dispersals into Southeast Asia and Oceania. Am J Hum Genet (2011) 3.53
A "Copernican" reassessment of the human mitochondrial DNA tree from its root. Am J Hum Genet (2012) 3.31
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
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Am J Hum Genet (2006) 2.96
Lifestyle transitions in plant pathogenic Colletotrichum fungi deciphered by genome and transcriptome analyses. Nat Genet (2012) 2.92
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
Cyclic adenosine monophosphate is a key component of regulatory T cell-mediated suppression. J Exp Med (2007) 2.88
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
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet (2007) 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
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol (2010) 2.42
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet (2004) 2.40
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet (2002) 2.34
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A (2006) 2.31
Mannose binding lectin gene polymorphisms confer a major risk for severe infections after liver transplantation. Gastroenterology (2005) 2.30
A genome scan to detect candidate regions influenced by local natural selection in human populations. Mol Biol Evol (2003) 2.30
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am J Hum Genet (2009) 2.29
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
Secretory phospholipase A(2)-IIA and cardiovascular disease: a mendelian randomization study. J Am Coll Cardiol (2013) 2.18
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
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
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
Inferring human population sizes, divergence times and rates of gene flow from mitochondrial, X and Y chromosome resequencing data. Genetics (2007) 2.00
Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. Nat Neurosci (2010) 2.00
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
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
Glyoxalase-1 prevents mitochondrial protein modification and enhances lifespan in Caenorhabditis elegans. Aging Cell (2008) 1.81
Evaluation of saliva as a source of human DNA for population and association studies. Anal Biochem (2006) 1.81
MicroRNA markers for forensic body fluid identification obtained from microarray screening and quantitative RT-PCR confirmation. Int J Legal Med (2010) 1.78